January 2015

Rare Disease Registries in Europe

www.orpha.net Table of contents

Methodology 3 List of rare diseases that are covered by the listed registries 4 Summary 13 1- Distribution of registries by country 13

2- Distribution of registries by coverage 14

3- Distribution of registries by affiliation 14

Distribution of registries by country 15 European registries 38 International registries 41

Orphanet Report Series - Rare Disease Registries in Europe - January 2015 2 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf Methodology

Patient registries and databases constitute key instruments to develop clinical research in the field of rare diseases (RD), to improve patient care and healthcare planning. They are the only way to pool data in order to achieve a sufficient sample size for epidemiological and/or clinical research. They are vital to assess the feasibility of clinical trials, to facilitate the planning of appropriate clinical trials and to support the enrolment of patients. Registries of patients treated with orphan drugs are particularly relevant as they allow the gathering of evidence on the effectiveness of the treatment and on its possible side effects, keeping in mind that marketing authorisation is usually granted at a time when evidence is still limited although already somewhat convincing. This report gather the information collected by Orphanet so far, regarding systematic collections of data for a specific disease or a group of diseases.

Cancer registries are listed only if they belong to the network RARECARE or focus on a rare form of cancer.

The report includes data about EU countries and surrounding countries participating to the Orphanet consortium. The diseases covered by each register are provided with Orpha number which is their identifier in the Orphanet nomenclature.

For any questions or comments, please contact us: [email protected]

Orphanet Report Series - Rare Disease Registries in Europe - January 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf 3 List of rare diseases that are covered by the listed registries

ORPHA ORPHA ORPHA Disease name Disease name Disease name Number Number Number 3718 3C syndrome 514 Acute monoblastic leukemia 417 Angelman syndrome 1031 46,XX disorder of sex development 519 Acute myeloid leukemia 1572 Ankyloblepharon - ectodermal defects - cleft lip/palate 98078 46,XX disorder of sex development 517 Acute myelomonocytic leukemia induced by androgens excess 1587 Anonychia - microcephaly 35889 Acute opioid poisoning 1002 46,XY disorder of sex development due to 2858 Anophthalmia - megalocornea - 520 Acute promyelocytic leukemia 17-beta-hydroxysteroid dehydrogenase 3 cardiopathy - skeletal anomalies deficiency 309120 Acyl-CoA dehydrogenase deficiency 1593 Anophthalmia plus syndrome 94 46,XY disorder of sex development due to 55881 Adamantinoma 96346 Anorectal malformation 5-alpha-reductase 2 deficiency 85138 Addison disease 3482 Anti-glomerular basement membrane 325351 46,XY disorder of sex development of 3710 Adducted thumbs - arthrogryposis, disease endocrine origin Christian type 80 Antiphospholipid syndrome 34 6-pyruvoyl-tetrahydropterin synthase 8641 Adenosine monophosphate deaminase 3032 Aortic arch interruption deficiency deficiency 59 Apert syndrome 3009 Aase-Smith syndrome 100091 Adrenal/paraganglial tumor 320 Apparent mineralocorticoid excess 258 Ablepharon macrostomia syndrome 1501 Adrenocortical carcinoma 2878 Arachnodactyly - abnormal ossification - 1490 Abruzzo-Erickson syndrome 2792 Adult familial nephronophthisis - spastic intellectual disability 7030 Absent tibia - polydactyly quadriparesia 3457 Arachnodactyly - intellectual disability - 235 Acatalasemia 1530 ADULT syndrome dysmorphism 48818 Aceruloplasminemia 829 Adult-onset Still disease 1609 AREDYLD syndrome 462 Achondroplasia 83617 Agammaglobulinemia - microcephaly - 508 Argininemia craniosynostosis - severe dermatitis 49382 Achromatopsia 8642 Argininosuccinic aciduria 52055 Agenesis of the corpus callosum 2207 Ackerman syndrome - intellectual disability - coloboma - 8607 Arnold-Chiari malformation type II 101963 Acquired chronic primary adrenal micrognathia 2853 Arrhinia insufficiency 86873 Aggressive NK-cell leukemia 247 Arrhythmogenic right ventricular dysplasia 861 Acrocraniofacial dysostosis 1536 Agnathia - holoprosencephaly - situs 3387 Arterial tortuosity syndrome 3082 Acrodermatitis enteropathica inversus 5522 Arthrogryposis - renal dysfunction - 1789 Acrofacial dysostosis, Catania type 484 Albers-Schönberg osteopetrosis cholestasis 64542 Acrofacial dysostosis, Kennedy-Teebi type 565 Allergic bronchopulmonary aspergillosis 982 Arthrogryposis multiplex congenita 1787 Acrofacial dysostosis, Palagonia type 3644 Alopecia - epilepsy - pyorrhea - 1666 Ascher syndrome intellectual disability 3140 Acrofacial dysostosis, Rodríguez type 94 Astrocytoma 1542 Alopecia-contractures-dwarfism- 3187 Acrofacial dysostosis, Weyers type intellectual disability syndrome 167 Ataxia-telangiectasia 1788 Acro-fronto-facio-nasal dysostosis 989 Alpha-1-antitrypsin deficiency 8694 Atresia of small intestine 79356 Acrokeratoderma 4040 Alpha-mannosidosis 8608 Atypical hemolytic-uremic syndrome 1518 Acromegaloid facial appearance syndrome 254 Alpha-thalassemia 77300 Auricular abnormalities - cleft lip 463 Acromegaly with or without cleft palate - ocular 7020 Alport syndrome abnormalities 1522 Acromicric dysplasia 1551 Alström syndrome 71270 Auriculoocular anomalies - cleft lip 1511 Acroosteolysis dominant type 8746 Alternating hemiplegia of childhood 98375 Autoimmune hemolytic anemia 1524 Acrorenal syndrome 8658 Alveolar echinococcosis 2554 Autoimmune polyendocrinopathy type 2 1513 Acro-renal-mandibular syndrome 1450 Amelo-cerebro-hypohidrotic syndrome 71203 Autoimmune thrombocytopenia 99892 ACTH-dependent Cushing syndrome 88661 Amelogenesis imperfecta 93665 Autoinflammatory syndrome 318 Acute erythroid leukemia 1558 Amelogenesis imperfecta - 8734 Autosomal dominant cerebellar ataxia 293173 Acute generalized exanthematous nephrocalcinosis pustulosis 94145 Autosomal dominant cerebellar ataxia 1748 Aminopterin/methotrexate type 1 79276 Acute intermittent porphyria embryofetopathy 94148 Autosomal dominant cerebellar ataxia 79126 Acute interstitial pneumonia 312 Amyotrophic lateral sclerosis type 3 513 Acute lymphoblastic leukemia 1245 Androgen insensitivity syndrome 73229 Autosomal dominant familial hematuria - 518 Acute megakaryoblastic leukemia 157954 ANE syndrome retinal arteriolar tortuosity - contractures

4 Orphanet Report Series - Rare Disease Registries in Europe - January 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf ORPHA ORPHA ORPHA Disease name Disease name Disease name Number Number Number 4048 Autosomal dominant hyper-IgE syndrome 1691 Brachymorphism - onychodysplasia - 726 Classical homocystinuria dysphalangism 34149 Autosomal dominant medullary 8530 Cleft lip with or without cleft palate cystic kidney disease with or without 3195 Branchio-oculo-facial syndrome 1892 Cleft lip/palate - intestinal malrotation - hyperuricemia 1697 Branchio-skeleto-genital syndrome cardiopathy 3155 Autosomal dominant osteosclerosis, Worth 97287 Bronchial endocrine tumor 1351 Cleft palate type 1303 Bronchiolitis obliterans with obstructive 2817 Cleft palate - short stature - vertebral 5013 Autosomal dominant polycystic kidney pulmonary disease anomalies disease 70589 Bronchopulmonary dysplasia 1198 Cleft palate - stapes fixation - oligodontia 3252 Autosomal dominant severe congenital neutropenia 8029 Budd-Chiari syndrome 1200 Cleft palate-lateral synechia syndrome 3619 Autosomal dominant spondylocostal 703 Bullous pemphigoid 8565 Cleidocranial dysplasia dysostosis 543 Burkitt lymphoma 930 Cockayne syndrome 1172 Autosomal recessive cerebellar ataxia 1359 C syndrome 1741 CODAS syndrome 34515 Autosomal recessive limb-girdle muscular 329931 C3 glomerulonephritis 1043 Coffin-Lowry syndrome dystrophy type 2I 1313 CADASIL 2566 COFS syndrome 264 Autosomal recessive polycystic kidney disease 280062 Calciphylaxis 92 Cohen syndrome 700 Autosomal recessive primary microcephaly 1706 Cantrell pentalogy 31824 Colchicine poisoning 3070 Autosomal recessive spondylocostal 137667 Capillary malformation - arteriovenous 157820 Cold-induced sweating syndrome malformation dysostosis 1081 Colonic atresia 42 Carbamoyl-phosphate synthase deficiency 782 Axenfeld-Rieger syndrome 35909 Combined deficiency of factor V and 1653 Bamforth-Lazarus syndrome 1220 Cardiocranial syndrome, Pfeiffer type factor VIII 1656 Barber-Say syndrome 1365 Carey-Fineman-Ziter syndrome 3049 Common variable immunodeficiency 2901 Bardet-Biedl syndrome 97286 Carney-Stratakis syndrome 965 Complete atrioventricular canal 415 Barth syndrome 65759 Carpenter syndrome 1822 Cone rod dystrophy 818 Bartsocas-Papas syndrome 160 Castleman disease 1526 Congenital absence/hypoplasia of fingers excluding thumb, unilateral 67038 B-cell chronic lymphocytic leukemia 1094 Cataract - intellectual disability - hypogonadism 206 Congenital adrenal hyperplasia 86852 B-cell prolymphocytic leukemia 540 Catecholamine-producing tumor 2807 Congenital bronchobiliary fistula 98895 Becker muscular dystrophy 1095 Catel-Manzke syndrome 532 Congenital diaphragmatic hernia 8722 Beckwith-Wiedemann syndrome 478 Cat-eye syndrome 137 Congenital disorder of glycosylation 1658 Beemer-Ertbruggen syndrome 1265 Caudal regression sequence 98873 Congenital dyserythropoietic anemia type 8663 Behçet disease II 86870 CD4+/CD56+ hematodermic neoplasm 38 Bernard-Soulier syndrome 1244 Congenital factor VII deficiency 3243 Central core disease 1309 Beta-thalassemia 329 Congenital factor XI deficiency 595 Centronuclear myopathy 16 Bethlem myopathy 2960 Congenital factor XIII deficiency 1933 Cerebral gigantism - jaw cysts 140963 Bilateral microtia - deafness - cleft palate 8645 Congenital fiber-type disproportion 329 Cerebro-costo-mandibular syndrome 2427 Bilateral renal agenesis myopathy 46627 Char syndrome 30391 Biliary atresia 3184 Congenital fibrinogen deficiency 183 Charcot-Marie-Tooth disease 3002 Birdshot chorioretinopathy 903 Congenital generalized hypertrichosis, 3244 CHARGE syndrome Ambras type 161 Blackfan-Diamond anemia 1311 Cherubism 88991 Congenital heart malformation 90340 Blau syndrome 3474 CHIME syndrome 671 Congenital hypothyroidism 889 Blepharo-cheilo-odontic syndrome 3395 Choanal atresia-deafness-cardiac defects- 68378 Congenital limb malformation 1665 Blepharonasofacial malformation dysmorphism syndrome syndrome 97242 Congenital muscular dystrophy 5530 Cholestasis - pigmentary retinopathy - 370953 Congenital muscular dystrophy due to 1922 Blepharophimosis - ptosis - esotropia - cleft palate syndactyly - short stature dystroglycanopathy 55880 Chondrosarcoma 2302 Blepharophimosis-intellectual disability 206973 Congenital myotonia 1248 Choroideremia syndrome, Ohdo type 839 Congenital nephrotic syndrome, Finnish 2499 Blepharophimosis-intellectual disability 85278 Christianson syndrome type syndrome, SBBYS type 68335 Chromosomal anomaly 79394 Congenital non-bullous ichthyosiform 223727 Bone sarcoma 5532 Chronic granulomatous disease erythroderma 1670 Böök syndrome 521 Chronic myeloid leukemia 3386 Congenital pulmonary airway malformation 293 Botulism 101959 Chronic primary adrenal insufficiency 264675 Congenital pulmonary alveolar proteinosis 1673 Bowen-Conradi syndrome 247525 Citrullinemia type I 123 Congenital pulmonary lymphangiectasia 168984 CLAPO syndrome

Orphanet Report Series - Rare Disease Registries in Europe - January 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf 5 ORPHA ORPHA ORPHA Disease name Disease name Disease name Number Number Number 372 Congenital pulmonary venous return 66637 Diaphanospondylodysostosis 3338 Familial hemophagocytic anomaly lymphohistiocytosis 3569 Diastrophic dwarfism 3035 Congenital systemic veins anomaly 864 Familial hypospadias 90060 Diffuse alveolar hemorrhage 169826 Congenital vitamin K-dependent 656 Familial idiopathic steroid-resistant 544 Diffuse large B-cell lymphoma coagulation factors deficiency nephrotic syndrome 31828 Digitalis poisoning 812 Congenitally uncorrected transposition of 93217 Familial idiopathic steroid-resistant the great arteries 2139 Dihydropteridine reductase deficiency nephrotic syndrome with diffuse mesangial sclerosis 1334 Conotruncal heart malformations 79166 Disorder of amino acid absorption and transport 93213 Familial idiopathic steroid-resistant 101987 Constitutional neutropenia 602 Distal myopathy, Nonaka type nephrotic syndrome with focal segmental 1747 Contractures - ectodermal dysplasia - cleft hyalinosis lip/palate 18 Distal renal tubular acidosis 209886 Familial juvenile hyperuricemic 3571 Cornelia de Lange syndrome 362 Dopa-responsive dystonia nephropathy type 1 54251 Corticosteroid-sensitive aseptic abscess 260 Down syndrome 1247 Familial Mediterranean fever syndrome 139402 Drug rash with eosinophilia and systemic 99361 Familial medullary thyroid carcinoma 1011 Cowden syndrome symptoms 618 Familial melanoma 8600 Coxopodopatellar syndrome 8548 Dubowitz syndrome 213517 Familial ovarian cancer 1761 Craniodiaphyseal dysplasia 311 Duchenne and Becker muscular dystrophy 1333 Familial pancreatic carcinoma 3206 Craniodigital syndrome - intellectual 98896 Duchenne muscular dystrophy 319487 Familial papillary or follicular thyroid disability 443 Duodenal atresia carcinoma 1762 Cranioectodermal dysplasia 520 Dyskeratosis congenita 71290 Familial platelet syndrome with 1149 Craniofacial-deafness-hand syndrome 1786 Dysosteosclerosis predisposition to acute myelogenous leukemia 293843 Craniofacial-ulnar-renal syndrome 303 Dystrophic epidermolysis bullosa 54595 Craniopharyngioma 31043 Familial primary hypomagnesemia with 256 Early-onset generalized limb-onset hypercalciuria and nephrocalcinosis 8556 Craniosynostosis - Dandy-Walker dystonia without severe ocular involvement malformation - hydrocephalus 797 Ear-patella-short stature syndrome 3497 Familial prostate cancer 1056 Crohn disease 2198 Ebstein malformation 168624 Familial scaphocephaly syndrome, 3072 Crossed polysyndactyly 1797 Ectodermal dysplasia - blindness McGillivray type 665 Crouzon disease 79373 Ectodermal dysplasia syndrome 938 Fanconi anemia 553 Cushing syndrome 3439 EEC syndrome 1890 Femoral agenesis/hypoplasia 79140 Cutaneous neuroendocrine carcinoma 1839 EEM syndrome 22 Fetal alcohol syndrome 8708 Cystic fibrosis 98249 Ehlers-Danlos syndrome 1900 Fibrochondrogenesis 378 Cystinosis 612 Ellis Van Creveld syndrome 242 Fibrodysplasia ossificans progressiva 1053 Darier disease 1315 Emery-Dreifuss muscular dystrophy 3519 Filippi syndrome 2608 Deafness - enamel hypoplasia - nail 877 Endocrine tumor 3458 Fine-Lubinsky syndrome defects 85186 Endosteal sclerosis - cerebellar hypoplasia 1910 Floating-Harbor syndrome 85321 Deafness - intellectual disability, Martin- Probst type 60015 Enlarged parietal foramina 1912 Flynn-Aird syndrome 3000 Dehydratase deficiency 85438 Enthesitis-related arthritis 1941 Focal dermal hypoplasia 1652 Dent disease 301 Ependymal tumor 48918 Focal myositis 1179 Dentin dysplasia 79355 Erythrokeratoderma 1866 Focal, segmental or multifocal dystonia 99791 Dentin dysplasia type II 79278 Erythropoietic protoporphyria 545 Follicular lymphoma 49042 Dentinogenesis imperfecta 8741 Esophageal atresia 2607 Fountain syndrome 71267 Dentinogenesis imperfecta - short stature 3318 Essential thrombocythemia 137834 Frank-Ter Haar syndrome - hearing loss - intellectual disability 31826 Ethylene glycol poisoning 413 Fraser syndrome 220 Denys-Drash syndrome 8711 Evans syndrome 347 Frasier syndrome 1672 Dermato-cardio-skeletal syndrome, 319 Ewing sarcoma 2190 Freeman-Sheldon syndrome Borrone type 3754 Fabry disease 458 Friedreich ataxia 1321 Dermatomyositis 678 Facioscapulohumeral dystrophy 1919 Frontometaphyseal dysplasia 1181 Dermatoosteolysis, Kirghizian type 8698 Familial adenomatous polyposis 227796 Fundus albipunctatus 1184 Dermo-odonto dysplasia 85447 Familial amyloid polyneuropathy 1925 GAPO syndrome 98909 Desminopathy 313846 Familial cutaneous telangiectasia and 314022 Gastric adenocarcinoma and proximal 873 Desmoid tumor oropharyngeal predisposition cancer polyposis of the stomach 83469 Desmoplastic small round cell tumor syndrome 36273 Gastric linitis plastica 1666 Dextrocardia 26106 Familial gastric cancer 100092 Gastroenteropancreatic endocrine tumor

6 Orphanet Report Series - Rare Disease Registries in Europe - January 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf ORPHA ORPHA ORPHA Disease name Disease name Disease name Number Number Number 44890 Gastrointestinal stromal tumor 1962 Hennekam syndrome 3654 Hypotrichosis-intellectual disability, Lopes type 97 Gastroschisis 890 Hepatic veno-occlusive disease 79354 Ichthyosis 182 Gaucher disease 3699 Hepatoblastoma 8531 Idiopathic achalasia 2609 Generalized resistance to thyroid hormone 88673 Hepatocellular carcinoma 60033 Idiopathic bronchiectasis 101960 Genetic chronic primary adrenal 64743 Hepatoportal sclerosis insufficiency 182101 Idiopathic eosinophilic pneumonia 91378 Hereditary angioedema 183497 Genetic neuromuscular disease 33208 Idiopathic hypersomnia 2997 Hereditary breast and ovarian cancer 1903 Gingival fibromatosis - facial dysmorphism syndrome 98482 Idiopathic inflammatory myopathy 1904 Gingival fibromatosis - progressive 227535 Hereditary breast cancer 98300 Idiopathic interstitial pneumonia deafness 401 Hereditary chronic pancreatitis 747 Idiopathic pulmonary alveolar proteinosis 3576 Gitelman syndrome 79273 Hereditary coproporphyria 2032 Idiopathic pulmonary fibrosis 3527 Glanzmann thrombasthenia 1902 Hereditary gingival fibromatosis 99931 Idiopathic pulmonary hemosiderosis 360 Glioblastoma 346 Hereditary hemorrhagic telangiectasia 3337 Immune thrombocytopenic purpura 141163 Glossopalatine ankylosis 523 Hereditary leiomyomatosis and renal cell 8695 Immunoglobulin A vasculitis 25 Glutaryl-CoA dehydrogenase deficiency cancer 68367 Inborn errors of metabolism 252 Glycogen storage disease due to acid 2902 Hereditary nonpolyposis colon cancer 4028 Inclusion body myositis maltase deficiency 79357 Hereditary palmoplantar keratoderma 3752 Incontinentia pigmenti 177 Glycogen storage disease due to glycogen 29072 Hereditary pheochromocytoma- branching enzyme deficiency 1641 Infantile onset spinocerebellar ataxia paraganglioma 148 Glycogen storage disease due to glycogen 90003 Inflammatory pseudotumor of the liver 213524 Hereditary site-specific ovarian cancer debranching enzyme deficiency syndrome 140162 Inherited cancer-predisposing syndrome 284426 Glycogen storage disease due to lactate 1306 Hidrotic ectodermal dysplasia 319462 Inherited cancer-predisposing syndrome dehydrogenase M-subunit deficiency due to biallelic BRCA2 mutations 1799 Hidrotic ectodermal dysplasia, Halal type 137625 Glycogen storage disease due to muscle 79361 Inherited epidermolysis bullosa and heart glycogen synthase deficiency 1046 Hirschsprung disease - nail hypoplasia - dysmorphism 252190 Inherited nervous system cancer- 99849 Glycogen storage disease due to muscle predisposing syndrome beta-enolase deficiency 391 Hodgkin lymphoma, classical 319328 Inherited renal cancer-predisposing 3750 Holoprosencephaly 776 Glycogen storage disease due to muscle syndrome glycogen phosphorylase deficiency 8691 Homocystinuria due to methylene 3540 Intellectual disability - dysmorphism - tetrahydrofolate reductase deficiency 3362 Glycogen storage disease due to muscle hypogonadism - diabetes mellitus phosphofructokinase deficiency 2986 Homocystinuria without methylmalonic 3574 Interauricular communication 139 Glycogen storage disease due to aciduria 182095 Interstitial lung disease phosphoglycerate kinase 1 deficiency 7 Huntington disease 264735 Interstitial lung disease specific to 97234 Glycogen storage disease due to 93473 Hurler syndrome phosphoglycerate mutase deficiency adulthood 1072 Hydrocephalus with stenosis of the 104010 Intestinal polyposis syndrome 292 Glycogen storage disease due to aqueduct of Sylvius phosphorylase kinase deficiency 104011 Intestinal tumor 1991 Hydrolethalus 66629 Goldberg-Shprintzen megacolon syndrome 1048 Isolated anencephaly/exencephaly 3209 Hyperammonemia due to 8578 Goldenhar syndrome N-acetylglutamate synthetase deficiency 2542 Isolated anophthalmia - microphthalmia 1943 Gordon syndrome 866 Hyperornithinemia-hyperammonemia- 1356 Isolated anorectal malformation 244 Gorlin syndrome homocitrullinuria 279 Isolated Pierre Robin syndrome 1945 Gorlin-Chaudhry-Moss syndrome 2705 Hyperostosis corticalis generalisata 823 Isolated spina bifida 53693 GRACILE syndrome 99880 Hyperparathyroidism-jaw tumor syndrome 2062 Isotretinoin-like syndrome 8674 Granulomatosis with polyangiitis 238583 Hyperphenylalaninemia 118 Isovaleric acidemia 3520 GTP cyclohydrolase I deficiency 31740 Hypersensitivity pneumonitis 8563 Jacobsen syndrome 99803 Haddad syndrome 3437 Hypertelorism, Teebi type 3237 Jalili syndrome 3611 Haim-Munk syndrome 2003 Hypertelorism-microtia-facial clefting 8543 Jeune syndrome syndrome 1952 Hallermann-Streiff syndrome 2065 Johanson-Blizzard syndrome 2010 Hypertrichosis lanuginosa congenita 2038 Harlequin ichthyosis 2066 Johnson neuroectodermal syndrome 725 Hypoglossia - hypodactyly 1957 Hartsfield-Bixler-Demyer syndrome 1330 Joubert syndrome 1790 Hypomandibular faciocranial dysostosis 5519 Hemimelia 2322 Joubert syndrome with orofaciodigital 88637 Hypomyelination - hypogonadotropic 139491 Hemochromatosis type 4 defect hypogonadism - hypodontia 68364 Hemoglobinopathy 220497 Joubert syndrome with renal defect 8748 Hypophosphatasia 158032 Hemophagocytic syndrome 2068 Juberg-Hayward syndrome 708 Hypoplastic left heart syndrome 853 Hemophilia 93672 Juvenile dermatomyositis 2667 Hypoplastic tibiae - postaxial polydactyly

Orphanet Report Series - Rare Disease Registries in Europe - January 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf 7 ORPHA ORPHA ORPHA Disease name Disease name Disease name Number Number Number 248111 Juvenile Huntington disease 2148 Marshall-Smith syndrome 3556 Nager syndrome 831 Juvenile hyaline fibromatosis 821 Matthew-Wood syndrome 1255 Nance-Horan syndrome 8585 Juvenile idiopathic arthritis 1663 Maxillonasal dysplasia 83465 Narcolepsy without cataplexy 93568 Juvenile polymyositis 373 Meacham syndrome 2073 Narcolepsy-cataplexy 85408 Juvenile rheumatoid factor-negative 891 Median cleft lip/mandibule 509 Nasopalpebral lipoma - coloboma - polyarthritis telecanthus 1332 Medullary thyroid carcinoma 85435 Juvenile rheumatoid factor-positive 3543 Nasopharyngeal carcinoma 616 Medulloblastoma polyarthritis 8534 Nemaline myopathy 97338 Melanoma of soft parts 837 Kabuki syndrome 8690 Nephroblastoma 51013 Melanoma-pancreatic cancer syndrome 2906 Kallmann syndrome 223 Nephrogenic diabetes insipidus 50251 Mesothelioma 33276 Kaposi's sarcoma 137617 Nephrogenic systemic fibrosis 33067 Metaphyseal chondrodysplasia, Jansen 164 Kapur-Toriello syndrome type 655 Nephronophthisis 8713 Kawasaki disease 31825 Methanol poisoning 2260 Neu-Laxova syndrome 3189 KBG syndrome 234 Methylmalonic acidemia with 2699 Neural tube defect 8559 KID syndrome homocystinuria 263440 Neuroacanthocytosis 2908 Kindler syndrome 280183 Methylmalonic aciduria due to 1036 Neuroblastoma transcobalamin receptor defect 99978 Klatskin tumor 514 Neurocutaneous melanocytosis 2178 Microbrachycephaly - ptosis - cleft lip 33543 Kleine-Levin syndrome 1045 Neurodegeneration with brain iron 788 Microcephaly - cleft palate 2084 Kousseff syndrome accumulation 83642 Microcytic anemia with liver iron overload 5545 Lacrimoauriculodentodigital syndrome 2262 Neurofaciodigitorenal syndrome 2822 Microgastria - limb reduction defect 8721 Lamellar ichthyosis 3462 Neurofibromatosis type 1 1083 Microlissencephaly 389 Langerhans cell histiocytosis 745 Neurofibromatosis type 2 3089 Microphthalmia - cataract 357 Large congenital melanocytic nevus 93921 Neurofibromatosis type 3 201 Microphthalmia, Lenz type 8551 Larynx atresia 2263 Neurofibromatosis type 6 83463 Microtia 46059 Lathosterolosis 68381 Neuromuscular disease 68380 Mitochondrial disease 3057 Leber congenital amaurosis 71211 Neuromyelitis optica 217613 Mitochondrial disease with dilated 54260 Left ventricular noncompaction 924 Neuronal ceroid lipofuscinosis cardiomyopathy 957 Legionellosis 77293 Niemann-Pick disease type B 552 MODY 137605 Legius syndrome 8692 Niemann-Pick disease type C 3340 Moebius syndrome 140936 Lelis syndrome 2557 Nijmegen breakage syndrome 243 Monosomy 5p 8661 Lennox-Gastaut syndrome 86867 Nodal marginal zone B-cell lymphoma 98503 Motor neuron disease 1185 Lethal restrictive dermopathy 547 Non-Hodgkin lymphoma 1972 Mowat-Wilson syndrome 99844 Leukocyte adhesion deficiency type III 157987 Non-Langerhans cell histiocytosis 79213 Mucopolysaccharidosis 137639 Leukoencephalopathy - ataxia - 94080 Non-secreting paraganglioma 53271 Muenke syndrome hypodontia - hypomyelination 91364 Non-specific interstitial pneumonia 68341 Multiple congenital anomalies/dysmorphic 951 Li-Fraumeni syndrome syndrome 91492 Non-syndromic congenital cataract 3090 Limb body wall complex 460 Multiple endocrine neoplasia type 1 10 Noonan syndrome 263 Limb-girdle muscular dystrophy 29073 Multiple myeloma 98733 Noonan syndrome and Noonan-related 69085 Limb-mammary syndrome syndrome 2904 Multiple osteochondromas 867 Lymphangioleiomyomatosis 2486 NPHP3-related Meckel-like syndrome 228145 Multiple sclerosis variant 309337 Lysosomal glycogen storage disease 1304 Ocular coloboma 102 Multiple system atrophy 592 Macrophagic myofasciitis 319 Ocular motor apraxia, Cogan type 588 Muscle-eye-brain disease 83619 Macrostomia - preauricular tags - external 1177 Oculocerebrocutaneous syndrome 71864 Muscular channelopathy ophthalmoplegia 2281 Oculocerebrofacial syndrome, Kaufman 2530 Myasthenia gravis 8542 Malaria type 52688 Myelodysplastic syndrome 679 Malignant atrophic papulosis 2283 Oculodental syndrome, Rutherfurd type 824 Myelofibrosis with myeloid metaplasia 190 Malignant hyperthermia 2284 Oculodentodigital dysplasia 98274 Myeloproliferative neoplasm 168999 Malignant melanoma of the mucosa 1792 Oculomaxillofacial dysostosis 182050 MYH9-related disease 52417 MALT lymphoma 2287 Oculoosteocutaneous syndrome 3663 Myhre syndrome 2138 Mandibuloacral dysplasia 77302 Oculo-oto-facial dysplasia 206647 Myotonic dystrophy 52416 Mantle cell lymphoma 2288 Oculo-palato-cerebral syndrome 69087 Naegeli-Franceschetti-Jadassohn 2142 Marden-Walker syndrome 2291 Oculotrichodysplasia syndrome 1473 Marfan syndrome 77295 Odontoleukodystrophy

8 Orphanet Report Series - Rare Disease Registries in Europe - January 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf ORPHA ORPHA ORPHA Disease name Disease name Disease name Number Number Number 2295 Odonto-onycho-dermal dysplasia 2393 Pierre Robin syndrome - faciodigital 68411 Rare bone tumor anomaly 2297 Odontotrichomelic syndrome 180250 Rare breast tumor 99408 Pituitary adenoma 69082 Odonto-tricho-ungual-digito-palmar 101945 Rare bronchopulmonary tumor syndrome 64742 Pleuropulmonary blastoma 183651 Rare constitutional anemia 2897 Okamoto syndrome 54028 Plummer-Vinson syndrome 93890 Rare developmental defect during 46484 Oligodendroglial tumor 2407 Poland syndrome embryogenesis 64 Omphalocele 8583 Polymyositis 98059 Rare digestive tumor 2309 Ondine syndrome 79358 Porokeratosis 280275 Rare disease 2313 Ophthalmomandibulomelic dysplasia 1025 Porphyria 101953 Rare dyslipidemia 3013 Optic pathway glioma 101330 Porphyria cutanea tarda 101998 Rare epilepsy 8569 Ornithine transcarbamylase deficiency 79473 Porphyria variegata 97966 Rare eye disease 139039 Orofacial clefting syndrome 854 Portal vein thrombosis 180821 Rare gastroesophageal tumor 2318 Orofaciodigital syndrome type 1 3249 Postaxial acrofacial dysostosis 96210 Rare genetic deafness 2320 Orofaciodigital syndrome type 3 294942 Postaxial polydactyly of fingers 183625 Rare genetic diabetes mellitus 2321 Orofaciodigital syndrome type 4 2136 Prader-Willi syndrome 98053 Rare genetic disease 6020 Orofaciodigital syndrome type 5 294939 Preaxial polydactyly of fingers 101435 Rare genetic eye disease 2323 Orofaciodigital syndrome type 8 99860 Precursor B-cell acute lymphoblastic 158300 Rare genetic hematologic disease leukemia 2753 Oromandibular-limb hypogenesis 98056 Rare genetic renal disease syndrome 8594 Primary biliary cirrhosis 97992 Rare hematologic disease 73230 Ossification anomalies - psychomotor 46135 Primary central nervous system lymphoma 248308 Rare hemorrhagic disorder development delay 1314 Primary ciliary dyskinesia 248315 Rare hemorrhagic disorder due to a 1251 Osteodysplasty, Melnick-Needles type 541 Primary cutaneous CD30+ T-cell coagulation factors defect 852 Osteogenesis imperfecta lymphoproliferative disease 68334 Rare hemorrhagic disorder due to a 399293 Osteonecrosis of the jaw 2963 Primary cutaneous lymphoma constitutional coagulation factors defect 2339 Osteopathia striata - cranial sclerosis 416 Primary hyperoxaluria 71202 Rare hemorrhagic disorder due to a constitutional platelet anomaly 2781 Osteopetrosis 101997 Primary immunodeficiency 275729 Rare hemorrhagic disorder due to a 276 Osteopetrosis with renal tubular acidosis 35689 Primary lateral sclerosis constitutional thrombocytopenia 668 Osteosarcoma 168807 Primary malignant peritoneal tumor 101943 Rare hepatic and biliary tract tumor 2346 Otodental syndrome 54370 Primary membranoproliferative 220489 Rare hereditary hemochromatosis glomerulonephritis 736 Otopalatodigital syndrome 217454 Rare hereditary thrombophilia 168803 Primary peritoneal tumor 1740 Otospondylomegaepiphyseal dysplasia 104012 Rare inflammatory bowel disease 203 Primary pulmonary lymphoma 93460 Overgrowth syndrome 68329 Rare maxillo-facial surgical disease 151 Primary sclerosing cholangitis 2063 Pachyonychia congenita 98062 Rare nervous system tumor 1367 Progressive familial intrahepatic 489 Pai syndrome cholestasis 98026 Rare odontologic disease 180824 Pancreatic tumor 35 Propionic acidemia 98061 Rare otorhinolaryngologic tumor 950 Pancreatoblastoma 8750 Proximal myotonic myopathy 213500 Rare ovarian cancer 134 Papillary or follicular thyroid carcinoma 3250 Proximal spinal muscular atrophy 181415 Rare primary hyperaldosteronism 2354 Papilloma of choroid plexus 756 Pseudohypoaldosteronism type 1 101944 Rare pulmonary disease 2355 Papillon-Lefèvre syndrome 757 Pseudohypoaldosteronism type 2 71198 Rare pulmonary hypertension 31827 Paraquat poisoning 758 Pseudoxanthoma elasticum 93626 Rare renal disease 143 Parathyroid carcinoma 182090 Pulmonary arterial hypertension 93603 Rare renal tubular disease 712 Paroxysmal nocturnal hemoglobinuria 466 Pycnodysostosis 280342 Rare rheumatological disease of childhood 1330 Partial atrioventricular canal 764 Pyomyositis 79386 Rare skin tumor or hamartoma 3334 Patent arterial duct 207085 Qualitative or quantitative defects of 71209 Rare soft tissue tumor 33402 Pediatric hepatocellular carcinoma dystrophin 98057 Rare tumor 93552 Pediatric systemic lupus erythematosus 207119 Qualitative or quantitative defects of 182114 Rare urogenital tumor 954 Pemphigus vulgaris FKRP 101938 Rare vascular liver disease 3498 Perlman syndrome 207052 Qualitative or quantitative defects of sarcoglycan 268114 RAS-associated autoimmune 1287 Peters plus syndrome leukoproliferative disease 93321 Radial hemimelia 1039 Peutz-Jeghers syndrome 60032 Recurrent respiratory papillomatosis 2476 Ramon syndrome 42642 PFAPA syndrome 83450 Regional odontodysplasia 102002 Rare ataxia 690 Phenylketonuria 2626 Renpenning syndrome 93419 Rare bone disease 71862 Retinal dystrophy Orphanet Report Series - Rare Disease Registries in Europe - January 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf 9 ORPHA ORPHA ORPHA Disease name Disease name Disease name Number Number Number 8652 Retinitis pigmentosa 2593 Stern-Lubinsky-Durrie syndrome 387 Ventricular septal defect 8627 Retinoblastoma 1167 Steroid dehydrogenase deficiency - dental 3422 Vitamin B12-responsive methylmalonic anomalies acidemia 90050 Retinopathy of prematurity 36426 Stevens-Johnson syndrome 1501 Vitamin B12-unresponsive methylmalonic 8670 Rett syndrome acidemia 85279 Syndromic X-linked intellectual disability 69077 Rhabdoid tumor due to JARID1C mutation 263 Von Hippel-Lindau disease 284130 Rheumatoid arthritis 188 Systemic capillary leak syndrome 903 Von Willebrand disease 59315 Rhombencephalosynapsis 429 Systemic lupus erythematosus 8743 WAGR syndrome 140976 RHYNS syndrome 603 Systemic mastocytosis 899 Walker-Warburg syndrome 1372 Ring chromosome 20 240266 Systemic non-Langerhans cell 2726 Weill-Marchesani syndrome 97360 Robinow syndrome histiocytosis 2731 Wiedemann-Rautenstrauch syndrome 90339 Rosselli-Gulienetti syndrome 2946 Systemic primary carnitine deficiency 3384 Williams syndrome 555 Rothmund-Thomson syndrome 90291 Systemic sclerosis 713 Wilson disease 907 Rubinstein-Taybi syndrome 2304 Taurodontia - absent teeth - sparse hair 1771 Wolcott-Rallison syndrome 3114 Ruvalcaba syndrome 86872 T-cell large granular lymphocyte leukemia 461 Wolf-Hirschhorn syndrome 140969 Saldino-Mainzer syndrome 86871 T-cell prolymphocytic leukemia 26 Wolfram syndrome 8653 Sarcoidosis 1784 Temtamy syndrome 749 X-linked adrenoleukodystrophy 2085 Schilbach-Rott syndrome 883 Teratoma 2436 X-linked intellectual disability - 131 Schizencephaly 842 Testicular seminomatous germ cell tumor dysmorphism - cerebral atrophy 923 Schwartz-Jampel syndrome 3327 Tetralogy of Fallot 85317 X-linked intellectual disability - hypogammaglobulinemia - progressive 8625 Scleroderma 86846 Therapy related acute myeloid leukemia neurological deterioration 2560 Sclerosteosis and myelodysplastic syndrome 85276 X-linked intellectual disability, Armfield 49827 Thiamine-responsive megaloblastic 67039 Segmental odontomaxillary dysplasia type anemia syndrome 1965 Senior-Loken syndrome 85293 X-linked intellectual disability, Cabezas 2107 Thickened earlobes - conductive deafness 2564 Septo-optic dysplasia type 93573 Thrombotic microangiopathy 42738 Severe congenital neutropenia 85287 X-linked intellectual disability, Siderius 54057 Thrombotic thrombocytopenic purpura type 758 Sézary syndrome 100100 Thymic tumor 85325 X-linked intellectual disability, Stevenson 3110 Short stature - intellectual disability - eye type anomalies - cleft lip/palate 99867 Thymoma 85289 X-linked intellectual disability, Vitale type 2567 SHORT syndrome 100087 Thyroid tumor 1608 X-linked mandibulofacial dysostosis 811 Shwachman-Diamond syndrome 2665 Tibial aplasia - ectrodactyly 876 Yolk sac tumor 430 Sickle cell anemia 95455 Toxic epidermal necrolysis 1256 Young adult-onset Parkinsonism 275752 Sickle cell disease and related diseases 99886 Transient neonatal diabetes mellitus 3183 Yunis-Varon syndrome 225 Simpson-Golabi-Behmel syndrome 56970 Transmissible spongiform encephalopathy 2741 Zimmermann-Laband syndrome 79022 Simpson-Golabi-Behmel syndrome type 2 32960 TRAPS syndrome 85191 Singleton-Merten dysplasia 804 Treacher-Collins syndrome 766 Sjögren syndrome 3723 Trichinellosis 49 Sjögren-Larsson syndrome 567 Tricho-dento-osseous syndrome 818 Smith-Lemli-Opitz syndrome 33364 Trichothiodystrophy 2952 Sneddon syndrome 2431 Triphalangeal thumbs - brachyectrodactyly 8726 Sotos syndrome 171929 Trisomy 10p 79132 Sparse hair - short stature - skin 1417 Trisomy 12p anomalies 205 Trisomy 13 94147 Spinocerebellar ataxia type 7 6022 Trisomy 18 86854 Splenic marginal zone lymphoma 2697 Truncus arteriosus 2129 Split hand-split foot malformation 68347 Tumor of hematopoietic and lymphoid 84271 Sporadic idiopathic steroid-resistant tissues nephrotic syndrome 90038 Typical hemolytic-uremic syndrome

93220 Sporadic idiopathic steroid-resistant 83001 Urogenital tract malformation nephrotic syndrome with diffuse mesangial sclerosis 6520 Usher syndrome 67037 Squamous cell carcinoma of head and 39044 Uveal melanoma neck 1286 Van der Woude syndrome 324737 SRD5A3-CDG 211237 Vascular tumor 3316 Stargardt disease 52759 Vasculitis 6018 10Steinert myotonicOrphanet dystrophy Report Series - Rare Disease Registries in Europe - January 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf Summary

1- Distribution of registries by country

NOT COUNTRY REGIONAL NATIONAL EUROPEAN GLOBAL TOTAL DEFINED AT - Austria 1 14 0 2 0 17 BE - Belgium 2 16 0 3 0 21 BG - Bulgaria 0 11 0 0 0 11 CH - Switzerland* 1 7 1 2 0 11 CY - Cyprus 0 2 0 0 0 2 CZ - Czech Republic 0 4 0 0 0 4 DE - Germany 9 73 2 32 0 116 DK - Denmark 1 3 0 0 0 4 EE - Estonia 0 2 1 0 0 3 ES - Spain 11 31 3 1 0 46 FI - Finland 0 7 0 0 0 7 FR - France 19 95 13 4 1 132 GR - Greece 0 2 0 0 0 2 HR - Croatia 0 1 0 0 0 1 HU - Hungary 0 4 0 1 0 5 IE - Ireland 4 7 0 0 0 11 IL - Israel* 0 2 0 0 0 2 IS - Iceland* 0 2 0 0 0 2 IT - Italy 9 49 4 7 2 71 LT - Lithuania 0 1 0 0 0 1 LU - Luxembourg 0 1 0 0 0 1 LV - Latvia 0 1 0 0 0 1 MK - Republic of Macedonia* 0 1 0 0 0 1 MT - Malta 0 2 0 0 0 2 NL - Netherlands 1 12 4 8 0 25 NO - Norway* 0 4 3 0 0 7 PL - Poland 3 5 2 0 0 10 PT - Portugal 5 11 0 0 0 16 RO - Romania 0 2 0 0 0 2 RS - Serbia* 0 4 0 0 0 4 SE - Sweden 0 14 1 3 0 18 SI - Slovenia 0 2 0 0 0 2 SK - Slovakia 0 2 0 0 0 2 TR - Turkey* 0 4 0 0 0 4 UA - Ukraine* 0 1 0 0 0 1 UK - United Kingdom 11 55 11 8 1 86 TOTAL 77 454 45 71 4 651

*surrounding countries participating to the Orphanet consortium Orphanet Report Series - Rare Disease Registries in Europe - January 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf 11 2- Distribution of registries by coverage

COVERAGE NUMBER OF REGISTRIES Regional 77 National 454 European 45 Global 71 Not defined 4 TOTAL 651

3- Distribution of registries by affiliation

5%

5% 8% Public Private non-for-profit Private for-profit Not defined 82%

12 Orphanet Report Series - Rare Disease Registries in Europe - January 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf Distribution of registries by country

AT - AUSTRIA (17 registries) ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION Austrian acromegaly registry National Public Austrian alpha-1 antitrypsin deficiency registry - contributes to the Alpha One National Public International Registry (AIR) Austrian cancer registry - contributes to the RARECARE project National Public Austrian chronic myeloid leukemia registry National Public Austrian cystic fibrosis patient registry - contributes to the EUROCARE CF registry National Private for-profit Austrian GIST registry National Private non-for-profit Austrian Haemophilia Registry National Public Austrian Huntington disease registry National Private for-profit Austrian myeloma registry National Private non-for-profit Austrian registry for inborn errors of metabolism National Public Austrian severe chronic neutropenia patient registry - contributes to the SCN National Public international registry (SCNIR) EB Registry National Public EMSA-SG: central patient registry of the European multiple system atrophy network Global Public ENRAH: European alternating hemiplegia and rare epilepsies registry in childhood Global Private non-for-profit MDS: Austrian myelodysplastic syndromes patient registry National Public Registry for histiocytic disorders (on behalf of the Austrian Society for Hematology & National Public Oncology) Styrian registry of congenital anomalies - contributes to the EUROCAT network Regional Public

BE - BELGIUM (21 registries) ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION Antwerpen registry of congenital anomalies - contributes to the EUROCAT network Regional Private for-profit Belgian alpha-1 antitrypsin deficiency registry - contributes to the Alpha One National Public International Registry (AIR) Belgian contribution to the international rare bleeding disorders registry (RBDD) National Public Belgian cystic fibrosis patient registry (BMR-RBM) - contributes to the EUROCARE CF National Private non-for-profit and the ECFS registries Belgian familial adenomatous polyposis registry National Private non-for-profit Belgian Neuromuscular Disease Registry National Public Belgian patient database for Wilson disease - contributes to the EuroWilson registry National Public (terminated) Belgian registry of primary immunodeficiencies - contributes to the ESID European National Private for-profit registry Belgian rituximab therapy registry for immune anemia and thrombocytopenia National Public Belgian severe chronic neutropenia patient registry - contributes to the SCN National Public international registry (SCNIR) Belgian sickle cell anemia registry National Public Belgian systemic sclerosis cohort National Public

Orphanet Report Series - Rare Disease Registries in Europe - January 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf 13 Central Registry Rare Diseases National Public ENRAH: Belgian contribution to European registry for alternating hemiplegia in National Public childhood EUNEFRON: registry of the European network for the study of orphan nephropathies Global Public EURECHINOREG: Belgian contribution to the European registry of human alveolar National Public echinococcosis EUROGLYCANET - International patient registry and cohort for congenital disorders of Global Private for-profit glycosylation Haemoglobinopathies - database National Private for-profit Hainault and Namur registry of congenital anomalies - contributes to the EUROCAT Regional Public network LCH: Belgian Langerhans cell histiocytosis registry National Public Pediatric granulomatous arthritis international registry Global Private for-profit

BG - BULGARIA (11 registries) ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION Bulgarian cystic fibrosis patient registry - contributes to the EUROCARE CF registry National Public Duchenne and Becker muscular dystrophy and spinal muscular atrophy patient National Private for-profit registries in Bulgaria - part of the TREAT-NMD network National registry of adult patients with chronic myeloid leukemia - BG National Public National registry of patients with Crohn disease - BG National Public National registry of patients with Gaucher disease - BG National Public National registry of patients with mucopolysaccharidosis type II (MPS2) - BG National Public National registry of patients with phenylketonuria - BG National Public National registry of patients with primary immunodeficiencies (PID) - BG National Public National registry of patients with thalassaemia major - BG National Public National registry of patients with Wilson disease - BG National Public The Bulgarian genetic registry of monogenic disorders National Public

CH - SWITZERLAND (11 registries) ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION EUROCAT (Switzerland, Vaud) - Registry of congenital malformations of canton Vaud Regional Public Perihilar Cholangiocarcinoma International Registry Global Public PFAPA Registry: Periodic fever aphtous stomatitis, pharyngitis and adenopathy patient European Not defined registry PNH Registry: Paroxysmal Nocturnal Hemoglobinuria registry Global Private for-profit Swiss alpha-1 antitrypsin deficiency registry - contributes to the Alpha One National Public International Registry (AIR) Swiss Cleft Lip and Palate Registry National Public Swiss cystic fibrosis patient registry - contributes to the EUROCARE CF registry National Public Swiss patient registry for Duchenne/Becker Muscular Dystrophy and Spinal Muscular National Public Atrophy - contributes to the TREAT - NMD network Swiss registries for Interstitial and Orphan Lung Diseases (SIOLD Registries) National Public

Swiss registry of biliary atresia - contributes to the EBAR registry National Public SwissNET - Registry for Neuroendocrine Tumours in Switzerland National Public

14 Orphanet Report Series - Rare Disease Registries in Europe - January 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf CY - CYPRUS (2 registries) ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION Cyprian cystic fibrosis patient registry - contributes to the EUROCARE CF registry National Private for-profit NMDcy: Cypriot Neuromuscular Diseases - contributes to TREAT-NMD National Private for-profit

CZ - CZECH REPUBLIC (4 registries) ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION Czech cystic fibrosis patient registry - contributes to the EUROCARE CF registry National Public Czech severe chronic neutropenia registry - contributes to the SCN international National Public registry (SCNIR) Duchenne and Becker muscular dystrophy patient registry in the Czech Republic and National Private for-profit Slovakia - contributes to the TREAT-NMD network Spinal muscular atrophy patient registry in the Czech Republic - part of the TREAT- National Private for-profit NMD network

DE - Germany (116 registries) DE-ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION AID-NET : Registry for autoinflammatory syndromes National Public ALS registry Nordrhein-Westfalen Regional Public ALS registry Rheinland-Pfalz Regional Public ALS registry swabia Regional Public AML-BFM Registry 2012: Clinical registry for children and adolescents with acute National Not defined myeloid leukemia ARegPKD - an international registry study for autosomal recessive polycystic kidney Global Public disease Ataxia-Telangiectasia patient registry - contributes to the ESID Database National Public Bayern population based cancer registry National Public Bremen cancer registry National Public CEDATA-GPGE: Registry of Children with Inflammatory Bowel Disease in Germany and Global Public Austria Central Cutaneous Lymphoma Registry National Public Centre Saxony-Anhalt registry of congenital anomalies - contributes to the EUROCAT Regional Public network Child liver tumor registry National Public Childrens IBD registry in Saxony Regional Public CMMR: Central Malignant Melanoma Registry in germany National Public Common cancer registry of Berlin, Brandenburg, Mecklenburg-Western Pomerania, National Public Saxony-Anhalt and the free states Saxony and Thuringia Conn Registry: German registry of primary aldosteronism National Public Core documentation of rheumatic children in germany National Public CPT-SIOP-Registry : International Registry for Choroid Plexus Tumors Global Public CURE-Net : National registry for congenital uro-rectal malformations National Public CWS-SoTiSaR: A registry for soft tissue sarcoma and other soft tissue tumours in Global Public children, adolescents, and young adults DCLLSG registry - Registry of the German CLL Study Group - Long term observation of National Public patients with CLL, B-PLL, T-PLL, SLL, T/ NK-LGL and Richter transformation DÖSAK tumor registry for documentation of tumors of the face and jaws in germany, Global Public austria and switzerland

Orphanet Report Series - Rare Disease Registries in Europe - January 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf 15 Duchenne and Becker muscular dystrophy and spinal muscular atrophy patient National Public registries in Austria and Germany - part of the TREAT-NMD network EBAR: European Biliary Atresia Registry Global Public EHDN: European Huntington's disease registry Global Public EHDN: neuroacanthocytosis patient registry Global Public EIMD: European registry and network for intoxication type metabolic diseases Global Public EKRS: Saarland Cancer Registry - contributes to the RARECARE Project Regional Private non-for-profit EMBARC - European Bronchiectasis Registry - project member germany European Public ENETS: European Neuroendocrine Tumour Registry Global Public Epidemiological cancer registry Baden-Württemberg Regional Public ESID: European registry of primary immunodeficiencies Global Public EU-RHAB: European Rhabdoid Tumor Registry Global Public eurIPFreg: European idiopathic pulmonary fibrosis registry Global Public EUROFA - EFACT: European Friedreich Ataxia Registry Global Public European chILD-registry and biobank of the european network for children's interstitial Global Public lung diseases (chILD-EU). EUROSCA-R: European patient registry on spinocerebellar ataxias Global Public EUTOS: European chronic myeloid leukemia patient registry (collaboration between the Global Public European LeukemiaNet and Novartis Europe) FACE - National registry for Robin sequence National Public GeNeMove: German database for wilson disease National Public German acromegaly registry National Public German adrenal tumors registry National Private non-for-profit German AID (Autoinflammatory disorders) registry - subproject AID-NET National Public German alpha-1 antitrypsin deficiency registry - contributes to the Alpha One National Public International Registry (AIR) German calciphylaxis registry National Public German central registry for Sickle cell disease National Public German childhood cancer registry (Partner of ACCIS: Automated Childhood Cancer National Not defined Information System) German cystic fibrosis registry - contributes to the EUROCARE CF registry National Public German epilepsy registry European Public German Fanconi anemia registry National Public German gastrointestinal stromal tumor registry National Public German Haemophilia Registry (DHR) National Public German marginal zone lymphoma registry National Public German mucopolysaccharidosis patient registry National Public German multiple endocrine neoplasia type 1 (MEN 1) registry National Public German national case collection of familial pancreatic cancer National Public German paroxysmal nocturnal hemoglobinuria registry National Public German pituitary tumors registry National Private non-for-profit German registry for congenital heart defects - part of the competence network for National Private non-for-profit congenital heart defects German registry for congenital thrombocytopenia National Public German registry for Morbus Adamantiades-Behçet e.V. National Not defined German registry for papulosis atrophicans maligna National Public German severe chronic neutropenia registry - contributes to the SCN international National Public registry (SCNIR) German vasculitis registry National Public

16 Orphanet Report Series - Rare Disease Registries in Europe - January 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf GMALL-registry: registry for adult patients with acute lymphoblastic leukemia or National Public related diseases GOLDnet: Registry for Diffus Parenchymal Lung Disease National Public GPOH-MET Registry: Registry for children and adolescents with malignant endocrine National Public tumour Hamburg cancer registry National Public HepNet: German hepatocellular carcinoma (HCC) registry National Public International pheochromocytoma and paraganglioma registry Global Public INVM (Isolated Noncompaction of Ventricular Myocardium) registry National Private for-profit Kids Lung Register: International register and biobank for rare lung diseases Global Public KINDLERNET: Central patient registry Kindler syndrome Global Public LBL Registry: Registry for children with lymphoblastic lymphoma National Public LCH: German Langerhans cell histiocystosis registry National Not defined Lupus nephritis registry (established by the german paediatric nephrology association) National Public Mainz registry of congenital anomalies - contributes to the EUROCAT network Regional Public MAISTHRO-Registry : multicentric thrombophilia registry National Public (MAIn-ISar-THROmbose-Register) MCR - Munich cancer registry National Public MDS: German myelodysplastic syndromes patient registry National Public MEFOPA: registry for patients with rare Mendelian forms of Parkinson's Disease Global Public Nationa CMT-patient registry germany - part of the TREAT-NMD network National Public National FKRP-patient registry germany - part of the TREAT-NMD network National Public National nephrogenic systemic fibrosis registry National Public National registry for Blackfan-Diamond disease National Public NCL-Registry: International neuronal ceroid lipofuscinoses patient registry Global Public Nephronophthisis registry for patients in germany, austria and switzerland Global Public NET-Registry: German neuroendocrine gastrointestinal tumors National Public Neuro-Heart-Registry: Registry for patients with heart involment in neurovascular National Public diseases Neuromyelitis optica patient registry National Public NHL-BFM Registry 2012: Registry of the NHL-BFM study group for all subtypes of Non- Global Public Hodgkin Lymphoma diagnosed in children and adolescents NIRK: national central registry for ichthyoses and related keratinization disorders National Public NIRK: patient registry for autosomal recessive congenital ichthyosis National Public NKR: German registry for adrenocortical carcinoma National Public OSTEOPETR: International registry of patients suffering from osteopetrosis Global Public Patient registry for primary hyperoxaluria - contributes to the OxalEurope-Network National Public Patient registry of the German Network for Systemic Scleroderma National Public PID-NET: National registry of primary immunodeficiencies National Public PODONET: Registry for Steroid-Resistant Nephrotic Syndrome (SRNS) patients Global Public PSHN Registry - Purpura Schoenlein-Henoch-Nephritis registry of the German society National Public for paediatric nephrology (GPN) RAMEDIS : Rare Metabolic Diseases Database National Public RegiSCAR: International registry of severe cutaneous adverse reactions (SCAR) to Global Public drugs and collection of biological samples - patient registry Register for rare myeloproliferative neoplasms Global Public Registry for congenital melanocytic nevi and neurocutaneous melanocytosis National Public Registry for Merkel Cell Carcinoma National Public Registry for patients with mitochondrial diseases (mitoREGISTER) - subproject of National Public mitoNET

Orphanet Report Series - Rare Disease Registries in Europe - January 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf 17 Registry for Patients with WT1 Mutation Associated Diseases National Public RetDis Database: clinical descriptions of patients and families with inherited eye Global Public diseases ROMSE: German patient registry of orofacial manifestations in rare diseases Global Private non-for-profit Schleswig-Holstein cancer registry National Public STEP Registry: Registry for rare tumors in children and adolescents National Public STER: FVII deficiency treatment international registry Global Public TIRCON: NBIA (Neurodegeneration with Brain Iron Accumulation) patient registry and Global Public biobank Tumor Registry of Lymphatic Neoplasia (TNL-Registry): Epidemiological registry National Private for-profit describing treatment reality and therapy modalities of patients with malignant Lymphatic Systemic Diseases (Non-Hodgkin`s Lymphoma, Chronic Lymphocytic Leukemia and Multiple Myeloma) requiring therapy Von Hippel-Lindau registry Regional Public

DK - DENMARK (4 registries) ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION Danish cystic fibrosis patient registry - contributes to the EUROCARE CF registry National Public Danish malignant hyperthermia registry - contributes to the European Malignant National Public Hyperthermia Group (EMHG) Funen county registry of congenital anomalies - contributes to the EUROCAT network Regional Public Mendelian cytogenetics network online database National Public

EE - ESTONIA (3 registries) ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION Estonian cancer registry - contributes to the RARECARE project National Public Estonian cystic fibrosis patient registry - contributes to the EUROCARE CF registry National Public Estonian Rare Diseases Registry for Wolfram syndrome, Alström syndrome, Bardet-Biedl European Public syndrome and other rare diabetes syndromes - contribuiting to EURO-WABB

ES - SPAIN (46 registries) ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION aHUS/C3G: Database of atypical hemolytic uremic syndrome and C3 glomerulonephritis National Public ECEMC: Registry of the Spanish Collaborative Study of Congenital Malformations National Not defined ERCUSYN: European registry on Cushing's syndrome Global Public EUGINDAT-PIADATABASE: European primary inherited aminoacidurias database European Not defined EUROMAC: Registry of patients affected by McArdle Disease European Public EURO-WABB: An EU Rare Diseases Registry for Wolfram Syndrome, Alstrom Syndrome, European Public Bardet-Biedl Syndrome and Other Rare Diabetes Syndromes - ES Fanconi anemia patient registry database National Public Population registry of rare diseases and congenital anomalies of Cantabria (Spain) Regional Public Population registry of rare diseases of Balearic Islands (Spain) Regional Public Population registry of rare diseases of Navarra (Spain) Regional Public RACAV: Registry of congenital anomalies of the Basque Country (Spain) - contributes Regional Public to the EUROCAT network Rare disease registry of Aragon (Spain) Regional Public

18 Orphanet Report Series - Rare Disease Registries in Europe - January 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf REDAPED: Spanish registry of ataxias and degenerative spastic paraparesis National Public REDIP: Spanish registry of primary immunodeficiencies - contributes to the ESID National Public European registry REEG: Spanish Gaucher's disease registry National Private non-for-profit Registro MEN: Spanish registry of multiple endocrine neoplasia National Public Registry for rare diseases in Andalusia (Spain) Regional Public Registry for rare diseases in Extremadura (Spain) Regional Public REHAP: Spanish Registry of Pulmonary Arterial Hypertension National Public REHEVASC: Spanish registry for hepatic vascular diseases National Public REHIPED - Spanish Registry for Pediatric Pulmonary Hypertension National Public RenalTube: Spanish patient registry of primary tubulopathies National Public REPA: Spanish registry of alveolar proteinosis National Public RERGA: Registry for rare diseases in Galicia (Spain) Regional Public RETEGEP: Spanish Registry of Gastroenteropancreatic Neuroendocrine Tumors National Private non-for-profit REWBA: Spanish Registry of Wolfram, Bardet-Biedl and Alstrom syndromes National Public SIER: Information System on rare diseases in the Region of Murcia (Spain) Regional Public SIER-CV: Information System on rare diseases in Valencian Community (Spain) Regional Public SIERMA: Information system on rare diseases in Madrid (Spain) Regional Public Spanish alpha-1 antitrypsin deficiency registry (REDAAT) - contributes to the Alpha National Private non-for-profit One International Registry (AIR) Spanish Overgrowth Syndrome Registry National Public Spanish patient registry for spinal muscular atrophy - part of the TREAT-NMD network National Public Spanish patient registry of ataxias National Private non-for-profit Spanish patient registry of hereditary angioedema National Public Spanish patient registry of hereditary retinal dystrophy National Public Spanish patient registry of myelodysplasic syndromes National Private non-for-profit Spanish patient registry of rare diseases: multiple endocrine neoplasia, acromegaly National Public and enteropancreatic endocrine tumors. Spanish patient registry of transmissible spongiform encephalopathies National Public Spanish Registry of Cushing Syndrome - contributes to ERCUSYN National Private non-for-profit Spanish registry of Duchenne muscular dystrophy - part of the TREAT-NMD network National Public Spanish registry of lymphangioleiomyomatosis National Public Spanish registry of patients with McArdle disease National Private for-profit Spanish registry of pulmonary Langerhans cell histiocytosis National Public Spanish registry of rare diseases National Public Spanish registry of renal hereditary diseases National Public Spanish severe chronic neutropenia registry - contributes to the SCN international National Public registry (SCNIR)

FI - FINLAND (7 registries) ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION Finnish cancer registry - contributes to the RARECARE project National Public Finnish Hematology Register and Biobank - FHRB National Public Finnish IPF registry National Public Finnish patient registry on Fabry disease National Public Finnish TREAT-NMD Patient Registry National Private non-for-profit Register of Congenital Malformations National Public The Finnish Register of Visual Impairment National Private non-for-profit

Orphanet Report Series - Rare Disease Registries in Europe - January 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf 19 FR - FRANCE (132 registries) ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION Aquitaine registry of mesothelioma Regional Public Auvergne registry of congenital anomalies - contributes to the EUROCAT network Regional Public Bas-Rhin registry of congenital anomalies - contributes to the EUROCAT network Regional Public Basse Normandie registry of hematological malignancies Regional Public BLAU registry: French pediatric granulomatous arthritis registry National Public Breast and other gynecological cancers registry of Côte-d'Or Regional Public CEREDIH: French primary immunodeficiencies registry National Public CoF-AT study: a French cohort on ataxia-telangiectasia National Public Cohort of patients affected by Marfan or related syndrome National Public Cohort of patients with hereditary dystrophies of retina Not defined Public Côte d'Or registry of hematological malignancies Regional Public Cystadane post marketing registry of patient with homocystinuria European Private for-profit D[4]/Phenodent: French registry of patients affected by rare odontologic diseases National Public Duchenne and Becker muscular dystrophy patient registry in France - part of the National Public TREAT-NMD network EDMUS - NOMADMUS: French cohort of Devic's neuromyelitis optica and related National Public neurological disorders EDMUS: European Database for Multiple Sclerosis and other related diseases European Public EHN - EURO-HISTIO-NET: European registry of Langerhans Cell Histiocytosis European Public ENET Registry: European Neuro-Endocrine Tumors Group National Public EPI-EPNET: European hepatic and erythropoietic porphyrias registry European Public EPIMAD: registry of chronic inflammatory intestine diseases in North-West Regional Public Escort-Hu: European sickle cell disease cohort- hydroxyurea European Private for-profit Establishment of children and adolescents cohort in Behcet disease in France National Public EU-CHS: European central hypoventilation syndrome registry European Public EURECHINOREG: European registry of alveolar echinococcosis European Public European multicenters SCLS (systemic capillary leak syndromes) registry European Public European prospective registry of children born to mothers affected by the European Public antiphospholipids syndrome EUROTRAPS: European patient registry on TRAPS syndrome European Public FranceCoag: French prospective cohort of patients affected with haemophilia or severe National Public form of other hereditary hemorrhagic diseases except platelet disorders French acromegaly registry National No defined French addictive acute intoxications cohort National Public French atypical sarcoïdosis clinical forms registry National Public French auto-immunity and Rituximab (AIR) registry: prospective study of patients National Public treated with Rituximab French central hypoventilation syndrome registry - will contribute to the European CHS National Public registry French certified patient registry for Langerhans cell histiocytosis National Public French certified registry of glycogen storage disease type 2 National Public French certified registry of patients affected by Gaucher disease National Public French certified registry of patients affected by thalassemia National Public French cohort creation in retinitis pigmentosa National Public French cohort for auto-inflammatory diseases National Public French cohort in genetic microcephalies National Public French cohort in primary ciliary dyskinesia National Public

20 Orphanet Report Series - Rare Disease Registries in Europe - January 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf French cohort of acquired autoimmune haemolytic anemia National Public French cohort of Castleman's disease National Public French cohort of common variable immunodeficiency with hypogammaglobulinemia in National Public adults (CVID) French cohort of focal dystonia famillies National Public French cohort of idiopathic pulmonary fibrosis National Public French cohort of inflammatory bowel disease (IBD) National Public French cohort of rare diabetes (neonatal diabetes, monogenic, atypical and syndromic National Public forms) French cohort of rhombencephalosynapsis National Public French cohort of Usher syndrome National Public French Cohorts in Sneddon syndrome and suspected Sneddon syndrome livedo National No defined French constitutive hematologic diseases registry National Public French cystic fibrosis cohort and CFTR-RD cohort National Public French cystic fibrosis patient registry National Public French cystinosis registry National Public French Disease Registry for Wolfram syndrome, Alström syndrome, Bardet-Biedl National Public syndrome and other rare diabetes syndromes - contributes to EURO-WABB French epidemiological registry of esophageal atresia National Public French familial cardiac malformations registry National Public French National Lymphangioleiomyomatosis Registry (RE-LAM-CE) National Public French national patients registry on rare peritoneal tumor RENAPE National Public French observatory of biliary atresia National Public French observatory of gastric linitis plastica National Public French observatory of primary biliary cirrhosis National Public French observatory of primitive sclerosing cholangitis National Public French patient registry affected by genetic deafness in France National Public French patient registry in chorioretinopathy, birdshot type National Public French pediatric registry of rituximab treated patients affected by severe systemic National Public diseases - contributes to the French AIR registry French prospective cohort follow-up of children under the age of 18 with autoimmune National Public cytopenia French Register of Amyotrophic Lateral Sclerosis National Public French register of the SDH-related hereditary paraglioma National Public French registry for macrophagic myofasciitis National Public French registry for right arrythmogenic ventricular dysplasia (ARVC/D) National Public French Registry of Atypical Hemolytic Uremic Syndrome (aHUS) in Children National Public French registry of autosomal recessive polycystic kidney disease National Public French registry of child hematological malignancies National Public French registry of children solid tumors National Public French registry of corticosteroid-sensitive aseptic abscess National Public French registry of familial and premature prostate cancers (before 50 years) National Public French registry of generalized resistance to thyroid hormone National Public French registry of hereditary dyslipidemia in children: familial combined dyslipidemias National Public French registry of Iron overload genetic rare diseases, non-related to the HFE gene National Public French registry of Kabuki syndrome National Public French registry of Marshall's syndrome with periodic fever National Public French registry of neuromuscular diseases from reference centres National Public

Orphanet Report Series - Rare Disease Registries in Europe - January 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf 21 French registry of patients affect by Leber amaurosis and retinitis pigmentosa to National Public assess the clinical trial in gene therapy French registry of rare genetic metabolism disorders of steroids - contributing to the National Public international RGSDC registry French registry of rare hypersomnias National Public French registry of rare pulmonary hypertension (HTAP) National Public French registry of tetrahydrobiopterin deficiencies National Public French severe chronic neutropenia certified patient registry - contributes to the SCN National Public international registry (SCNIR) French sickle cell anemia registry National Public French Still disease patient registry National Public French Williams syndrome cohort National Public FROG: FRench Observatory on Gaucher disease National Private for-profit GENEPSO: French epidemiological cohort of BRCA systemic mutations carriers National Public Gironde registry of hematological malignancies Regional Public GMF: French registry of myelodysplastic syndromes and leukemia chemo- and National Public radio-induced GTE: French registry of endocrine tumors National Public Idiopathic pulmonary fibrosis: Cohort studies for evaluation of pronostic factors, National Public therapeutic evaluation ITINERAIR-HTAP: French cohort of adult with pulmonary arterial hypertension National Private for-profit ITINERAIR-pediatrie: French cohort of children with pulmonary arterial hypertension National Private for-profit ITINERAIR-scleroderma: French pulmonary arterial hypertension screening cohort of National Private for-profit patients with scleroderma KAWA-NET: epidemiological database of Kawasaki disease in France National Public La Réunion Fench Island registry of congenital anomalies - contributes to the Regional Public EUROCAT network LEA: children and adolescents with acute leukemia : propective cohort in France National Public Left ventricular noncompaction French registry National Public Mesothelioma cohort in Seine Saint-Denis and Val de Marne Regional Public Myotonic dystrophy patient registry in France - part of the TREAT-NMD network National Public National database for the study and follow-up of paediatric rare tumors. National Public Paris registry of congenital anomalies - contributes to the EUROCAT network Regional Private for-profit PGRx : Immune thrombocytopenic purpura (ITP) Global Private non-for-profit PGRx : Lupus Global Private non-for-profit PGRx : Myositis Global Private non-for-profit PGRx: Suspected rheumatoid arthritis Global Private non-for-profit PHA1-NET: PseudoHypoAldosteronism type 1 cohort National Public POLA: French patient registry of high level oligodendroglioma National Public Primary central nervous system tumors registry of Gironde Regional Public Regional registry of thyroid cancers in Rhône-Alpes Regional Public Registre multicentrique à vocation nationale des mésothéliomes pleuraux (registre National Public qualifié) Registry and pronostic cohort of cutaneous lymphomas in Aquitaine Regional Public Registry for digestive cancers in Burgundy Regional Public Registry of digestive tumors in Calvados (province of France) Regional Public Registry of hereditary Haemochromatosis of the Languedoc Roussillon (including rare Regional Public forms non-HFE hemochromatosis) Registry of observed trichinellosis cases in France yearly National Public Registry of the network studying thrombotic microangiopathies National Public

22 Orphanet Report Series - Rare Disease Registries in Europe - January 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf Rhône-Alpes registry of congenital anomalies - contributes to the EUROCAT network Regional Public Rhône-Alpes registry of systemic mastocytosis Regional Public SCETIDE - Stem CEll Transplant for primary Immune Deficiencies in Europe European Public SYRENE: Rett syndrome network - French database of clinical and genetic aspects of National Public Rett syndrome UMD-SMN1 France National Public VALID: cohort creation on Budd-Chiari syndrome, hepatic venooclusive disease, European Public hepatoportal sclerosis and portal vein thrombosis Vedrop registry of chronic cholestasis patient with vitamin E deficiency European Private for-profit

GR - GREECE (2 registries) ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION Greek cystic fibrosis patient registry - contributes to the EUROCARE CF registry National Private for-profit Greek severe chronic neutropenia patient registry - contributes to the SCN National Public international registry (SCNIR)

HR - CROATIA (1 registry) ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION Croatian cystic fibrosis patient registry - contributes to the EUROCARE CF registry National Private for-profit

HU - HUNGARY (5 registries) ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION Hungarian severe chronic neutropenia registry - contributes to the SCN international National Public registry (SCNIR) Hungarian cystic fibrosis patient registry - contributes to the EUROCARE CF registry National Private for-profit DMD registry - Hungary - contributes to the TREAT-NMD network Global Public National NF Register National Private for-profit SMA registry Hungary - contributes to the TREAT-NMD network National Public

IE - IRELAND (11 registries) ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION CFRI: The Cystic Fibrosis Registry of Ireland - contributes to the EUROCARE CF registry National Not defined Dublin registry of congenital anomalies - contributes to the EUROCAT network Regional Public Galway registry of congenital anomalies - contributes to the EUROCAT network Regional Public Irish myelodysplastic syndromes specific registry National Public Irish registry for Bernard-Soulier syndrome National Public Irish registry of amyotrophic lateral sclerosis and motor neurone disease National Public Irish registry of Hurler syndrome National Public Irish severe chronic neutropenia registry - contributes to the SCN international National Public registry (SCNIR) National Irish alpha-1 antitrypsin deficiency registry - contributes to the Alpha One National Not defined International Registry (AIR) South East of Ireland registry of congenital anomalies - part of BINOCAR and EUROCAT Regional Public network

Orphanet Report Series - Rare Disease Registries in Europe - January 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf 23 South of Ireland registry of congenital anomalies - contributes to the EUROCAT Regional Public network

IL - ISRAEL (2 registries) ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION Israeli cystic fibrosis patient registry - contributes to the EUROCARE CF registry National Private for-profit Israelian severe chronic neutropenia registry - contributes to the SCN international National Public registry (SCNIR)

IS - ICELAND (2 registries) ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION Icelander cancer registry - contributes to the RARECARE project National Public Icelander cystic fibrosis patient registry - contributes to the EUROCARE CF registry National Private for-profit

IT - ITALY (71 registries) ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION AICE: Italian registry of hemophilia centre National Public AIR: Italian alpha-1 antitrypsin deficiency registry - contributes to the Alpha One National Public International Registry Arrhythmogenic right ventricular cardiomyopathy/dysplasia: clinical registry and National Public database, evaluation of therapies Campania registry of congenital anomalies - contributes to the EUROCAT network Regional Public Development of the Italian National Registry for FSHD National Public Duchenne and Becker muscular dystrophy and spinal muscular dystrophy patient National Not defined registries in Italy - contributes to the TREAT-NMD network EIMD: European registry and network for intoxication type metabolic diseases European Public Enroll-HD - A Prospective Registry Study in a Global HD Cohort Global Public EUROFEVER: European registry for autoinflammatory diseases Global Public EUROWILSON: Registry and network to improve the management of Wilson Disease European Public FMF: Italian registry for familial mediterranean fever in the young National Public Friedreich's ataxia Italian patient registry National Private non-for-profit GLATIT: Glanzmann thrombasthenia Italian registry National Public HAE-registry: European hereditary angioedema patient registry European Public IBAHC: Italian registry for alternating hemiplegia of childhood National Not defined INNCB MG Registry National Public International registry of bone fragility fractures in the young Global Public International Registry of congenital dyserythropoietic anemia II Global Public International Registry of Rare Bleeding Disorders (RBDD) Global Not defined International registry of recurrent and familial hemolytic uremic syndrome/thrombotic Global Private non-for-profit thrombocytopenic purpura IPERN: Registro di pazienti affetti da atrite giovanile idiopatica trattati con anti-TNF National Public ISMAC: Sicilian registry of congenital anomalies - contributes to the EUROCAT network Regional Public Italian cystic fibrosis patient registry - contributes to the EUROCARE CF registry National Public

Italian genetic movement disorders registry National Public Italian HLH Registry National Public

24 Orphanet Report Series - Rare Disease Registries in Europe - January 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf Italian LCH Registry National Public Italian Li-Fraumeni syndrome registry National Public Italian neuroblastoma registry National Public Italian registry for MYH9-related thrombocytopenia National Public Italian Registry for patients with Shwachman Diamond Syndrome National Public Italian Registry of adult patients affected by familial mediterranean fever National Public Italian registry of congenital nephrotic syndromes National Public Italian registry of Creutzfeldt-Jakob disease and correlated syndromes National Public Italian registry of diffuse infiltrative pneumopathies National Public Italian registry of hemolytic uremic syndrome National Not defined Italian registry of hypertrophic cardiomyopathy in Anderson-Fabry disease National Private non-for-profit Italian registry of Legionellosis National Public Italian Registry of membranoproliferative glomerulonephritis National Private non-for-profit Italian registry of muscle channel-diseases National Public Italian registry of myotonic dystrophies National Public Italian registry of patients and families affected by Pseudoxanthoma Elasticum National Public Italian registry of skeletal dysplasia National Public Italian retinoblastoma registry National Public MITOCON: National registry mitochondrial disease National Public MODY: Italian registry of maturity onset diabetes of the young National Public National registry of Rare Diseases National Public North-east Italy registry of neurofibromatosis Regional Public North-East of Italy registry of congenital anomalies - contributes to the EUROCAT Regional Public network RAM-NET: Italian registry of patients with neuromuscular diseases - contributes to National Private non-for-profit Treat-NMD european network Regional registry for neuromuscular disorders Regional Public Regional Registry Rare Diseases of Puglia Region (SIMaRRP) Regional Private non-for-profit Registry for Wolfram syndrome, Alström syndrome, Bardet-Biedl syndrome and other European Public rare diabetes syndromes - contributing to EURO-WABB Registry of inherited bleeding disorders in Emilia Romagna region Regional Public Registry of pregnant patients affected by essential thrombocythemia National Not defined Registry of steroid-resistant nephrotic syndrome Not defined Private non-for-profit REM: Multiple Osteochondromas Registry National Public Rett Syndrome Database National Public RIAF: Fanconi's anemia Italian registry National Public RIAT: Ataxia teleangiectasia Italian registry National Public RIMM: Italian registry for myelofibrosis with myeloid metaplasia National Public RISMD: Italian myelodysplastic syndromes registry National Not defined RNIC: National Registry of Infant with Congenital Hypothyroidism National Not defined ROI: Osteogenesis Imperfecta Registry Not defined Public SCNIR: Italian severe chronic neutropenia registry - contributes to the SCN National Public international registry Telethon-UILDM registry CMD (Congenital Muscular Dystrophy) - contributes to National Public european Treat-NMD network Telethon-UILDM registry FSHD (Facioscapulohumeral dystrophy) - contributes to National Public european Treat-NMD network Telethon-UILDM registry LGMD (Limb Girdle Muscular Dystrophy) - contributes to National Public european Treat-NMD network

Orphanet Report Series - Rare Disease Registries in Europe - January 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf 25 TTP: International registry on thrombotic thrombocytopenic purpura Global Not defined Tuscany Registry of Rare Diseases Regional Public Venetian registry of rare diseases Regional Public V-RIAT: variant Ataxia telangiectasia Italian registry National Public

LT - LITHUANIA (1 registry) ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION Lithuanian cystic fibrosis patient registry - contributes to the EUROCARE CF registry National Private for-profit

LU - LUXEMBOURG (1 registry) ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION Luxembourgers cystic fibrosis patient registry - contributes to the EUROCARE CF National Private for-profit registry

LV - LATVIA (1 registry) ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION Latvian cystic fibrosis patient registry - contributes to the EUROCARE CF registry National Private for-profit

MK - REPUBLIC OF MACEDONIA (1 registry) ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION Macedonian cystic fibrosis patient registry - contributes to the EUROCARE CF registry National Private for-profit

MT - MALTA (2 registries) ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION MALTA CONGENITAL ANOMALIES REGISTRY (MCAR) - it contributes to EUROCAT National Public Maltese cancer registry - contributes to the RARECARE project National Public

NL - NETHERLANDS (25 registries) ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION CONCOR: Dutch registry of patients with a congenital heart malformation National Private for-profit DDRMD - Dutch Diagnosis Registration Metabolic Diseases National Public Duchenne and Becker muscular dystrophy patient registry in the Netherlands - part of National Public the TREAT-NMD network Dutch alpha-1 antitrypsin deficiency registry - contributes to the Alpha One National Public International Registry (AIR) Dutch cystic fibrosis patient registry - contributes to the European ECFS patient National Not defined registry Dutch patient registry for Fabry disease National Public Dutch patient registry for Gaucher disease National Public Dutch patient registry for Niemann-Pick Disease Type B National Public Dutch patient registry for Niemann-Pick Disease Type C National Public

26 Orphanet Report Series - Rare Disease Registries in Europe - January 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf Dutch severe chronic neutropenia registry - contributes to the SCN international National Public registry (SCNIR) ECARUCA: cytogenetic and clinical database on rare chromosomal disorders European Public EPCOT: European prospective cohort on thrombophilia European Private for-profit ESPN/ERA-EDTA Registry: European Registry for Children on Renal Replacement European Public Therapy European Parathyroid Tumor Registry Global Public International Dystrophic Epidermolysis Bullosa Patient Registry Global Public North Netherlands registry of congenital anomalies - contributes to the EUROCAT Regional Public network PAN research: Prospective amyotrophic lateral sclerosis (ALS) study Netherlands National Public PHARMACHILD patient registry: Long-term pharmacovigilance for adverse effects in Global Public childhood arthritis, focusing on immune modulatory drugs (part of PRINTO network) RP5000 database: Dutch registry for Inherited Retinal Dystrophies National Public STRIVE: A Long-term, Multi-center, Longitudinal Post-marketing, Observational Global Public Registry to Assess Long Term Safety and Effectiveness of HUMIRA® (Adalimumab) in Children With Moderately to Severely Active Polyarticular or Polyarticular-course Juvenile Idiopathic Arthritis (JIA) - NL The intenational Pompe registry Global Private for-profit The International Collaborative Gaucher Group (ICGG) Gaucher registry Global Private for-profit The international Fabry registry Global Private for-profit The international Mps I registry Global Private for-profit X-ALD: X-linked adrenoleukodystrophy database European Public

NO - NORWAY (7 registries) ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION EURADRENAL: European patient registry on autoimmune Addison's disease (sera, DNA European Public and RNA) European Porphyria Registry (EPR) European Public HUE-MAN patient registry on alpha mannosidosis European Public Norvegian Porphyria Registry National Public Norwegian cancer registry - contributes to the RARECARE project National Public Norwegian cystic fibrosis patient registry - contributes to the EUROCARE CF registry National Public Norwegian severe chronic neutropenia registry - contributes to the SCN international National Public registry (SCNIR)

PL - POLAND (10 registries) ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION Cracow cancer registry - contributes to the RARECARE project Regional Public EHDN: Observational Study of the European Huntington's Disease Network European Public Kielce cancer registry - contributes to the RARECARE project Regional Public Mazovian Cancer Registry - contributes to the RARECARE project Regional Public Polish cystic fibrosis patient registry - contributes to the EUROCARE CF registry National Public Polish Registry of Patients with Neuromuscular Diseases contributes to the TREAT-NMD National Public network Polish registry of primary immunodeficiencies - contributes to the ESID European National Public registry

Orphanet Report Series - Rare Disease Registries in Europe - January 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf 27 Polish severe chronic neutropenia registry - contributes to the SCN international National Public registry (SCNIR) PRCM: Polish registry of congenital malformations - contributes to the EUROCAT National Public network Registry for Wolfram syndrome, Astrom syndrome, Bardet-Biedl syndrome and other European Public rare diabetes syndromes contributing do EURO-WABB

PT - PORTUGAL (16 registries) ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION Açores regional cancer patient registry (RORA) Regional Public Adrenal tumor national registry National Public Central regional cancer patient registry Regional Public Duchenne and Becker muscular dystrophy patient registry in Portugal - contributes to National Public the TREAT-NMD network North regional cancer registry (RORENO) Regional Public Pituitary tumors national registry National Public Portuguese cystic fibrosis patient registry - contributes to the EUROCARE CF registry National Private for-profit Portuguese Fabry patient registry - contributing to the international Fabry registry National Public Portuguese registry for alpha-1 antitrypsin deficiency National Public Portuguese registry for bronchiectasis National Private non-for-profit Portuguese registry of primary immunodeficiency diseases (REPORID) National Public Portuguese Rett syndrome registry National Public Portuguese severe chronic neutropenia patient registry - contributes to the SCN National Public international registry (SCNIR) RENAC - Portuguese registry of congenital anomalies (contributes to the EUROCAT National Public network) Southern Portugal cancer registry - contributes to the RARECARE project Regional Public Vila Nova de Gaia regional cancer registry (ROG) Regional Public

RO - ROMANIA (2 registries) ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION Romanian biliary atresia registry National Public Romanian cystic fibrosis patient registry - contributes to the EUROCARE CF registry National Private non-for-profit

RS - SERBIA (4 registries) ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION Serbian cystic fibrosis patient registry - contributes to the EUROCARE CF registry National Public Serbian registry of patients with rare bleeding disorders - contributes to the RBDD National Public international registry Serbian registry of hemophilia and von Willebrand disease patients National Public Serbian severe chronic neutropenia registry - contributes to the SCN international National Public registry (SCNIR)

28 Orphanet Report Series - Rare Disease Registries in Europe - January 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf SE - SWEDEN (18 registries) ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION FOS : Fabry Outcome Survey Global Private for-profit HOS : Hunter Outcome Survey Global Private for-profit IOS : Icatibant Outcome Survey for hereditory angioedema Global Private for-profit National registry on bronchopulmonary dysplasia National Public SPAHR: Swedish Pulmonary Arterial Hypertension Registry National Public SWEDCON: Swedish Registry of Congenital Heart Disease National Public Swedish Acute Lymphoblastic Leukemia Registry National Public Swedish Acute Myelogenous Leukemia Registry National Public Swedish alpha-1 antitrypsin deficiency registry - contributes to the Alpha One National Public International Registry (AIR) Swedish and Finnish registry of CADASIL patients European Public Swedish Childhood Cancer Registry National Public Swedish Chronic Myeloid Leukemia Registry National Public Swedish cystic fibrosis patient registry - contributes to the EUROCARE CF registry National Public Swedish Multiple Myeloma Registry National Public Swedish Polyposis Registry National Public Swedish Registry for Familial Amyloid Polyneuropathy National Public Swedish severe chronic neutropenia registry - contributes to the SCN international National Public registry (SCNIR) SWEDROP: Swedish Registry for Retinopathy of Prematurity National Private for-profit

SI - SLOVENIA (2 registries) ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION Slovenian cancer registry - contributes to the RARECARE project National Private for-profit Slovenian cystic fibrosis patient registry - contributes to the EUROCARE CF registry National Public

SK - SLOVAKIA (2 registries) ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION National cancer registry (contributes to the RARECARE project) National Public Slovak cystic fibrosis patient registry - contributes to the EUROCARE CF registry National Public

TR - TURKEY (4 registries) ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION Database setup for the visualisation and examination of oral ulcers in Behcet disease National Public patients Duchenne and Becker muscular dystrophy and spinal muscular dystrophy patient National Private for-profit registries in Turkey - contributes to the TREAT-NMD network Turkish cystic fibrosis patient registry - contributes to the EUROCARE CF registry National Public

Turkish severe chronic neutropenia registry - contributes to the SCN international National Public registry (SCNIR)

Orphanet Report Series - Rare Disease Registries in Europe - January 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf 29 UA - UKRAINE (1 registry) ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION Spinal muscular atrophy patient registry in Ukraine - part of the TREAT-NMD network National Private for-profit

UK - UNITED KINGDOM (86 registries) ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION ADVATE Hemophilia A Outcome Database (AHEAD) - UK National Public AOMIC: adult onset myositis immunogenetic collaboration National Public Batten Disease Neuronal Ceroid Lipofuscinosis (NCL) Patient Registry National Public BPOLD: British Paediatric Orphan Lung Disease Registry National Public CARIS - Welsh registry of congenital anomalies - part of BINOCAR and EUROCAT Regional Public network CAROBB - congenital anomalies registry for Oxfordshire, Berkshire & Buckinghamshire Regional Public - part of the BINOCAR and EUROCAT network CCRN 1055: Osteonecrosis of the Jaw (ONJ) Case Registry Global Not defined CCRN 1076: A multi-centre safety registry for malaria patients treated with National Not defined EurartesimTM CCRN 1093 (aHUS): An observational, non-interventional multicenter, multinational Global Not defined study of patients with Atypical HemolyticUremic Syndrome (aHUS Registry) CCRN 2421 (Noonan/RASopathy patients): A registry study to characterize genetic and Global Not defined pathway biomarkers in Noonan syndrome and other RASopathy patients - UK CCRN 2536 (Idiopathic pulmonary fibrosis): Post-Authorisation Safety Study of National Not defined Esbriet® (Pirfenidone): A Prospective Observational Registry to Evaluate Long-Term Safety in a Real-World Setting CCRN 3119 (Spondyloarthritis): Patients with axial spondyloarthritis: multicountry National Not defined registry of clinical characteristics, including radiographic progression, and burden of disease over 5 years in reallife setting CCRN 995 (European Adrenal Insufficiency): A European multi-centre, multi-country, National Not defined post-authorisation, observational study (registry) of patients with chronic adrenal insufficiency - UK CRANE: patients registry with cleft lip and/or cleft palate in England and Wales National Public DRN 377: Clinical Register for Transient Neonatal Diabetes National Public DYSCERNE's dysmorphology diagnostic system (DDS) European Public EBV associated NK/T cell malignancies registry National Public EHDN: registry of juvenile Huntington's disease Global Public EHR: European Haemoglobinopathy Registry European Public EIMD: European registry and network for intoxication type metabolic diseases European Public EMSYCAR - East Midlands & South Yorkshire congenital anomalies registry - part of Regional Public BINOCAR and EUROCAT network English alpha-1 antitrypsin deficiency registry - contributes to the Alpha One National Public International Registry (AIR) English cystic fibrosis database National Public English cystic fibrosis patient registry - contributes to the EUROCARE CF and ECFS National Public registries English cystinosis registry National Not defined English hereditary angioedema patient registry - part of the HAE European registry National Public English hyperoxaluria registry National Not defined

30 Orphanet Report Series - Rare Disease Registries in Europe - January 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf English juvenile dermatomyositis registry and repository National Public English mucopolysaccharidosis registry National Not defined English phenylketonuria registry National Public English registry for lymphangioleiomyomatosis National Public English registry of biliary atresia - contributes to the EBAR registry National Public English registry of syndromes with abnormal vertebral segmentation National Public English registry of Wolf-Hirschhorn syndrome National Public English severe chronic neutropenia registry - contributes to the SCN international National Public registry (SCNIR) Enroll-HD: A Prospective Registry Study in a Global Huntingtons Disease Cohort European Public ERNEST - European Registry for Myeloproliferative Neoplasms towards a better European Private for-profit understanding of Epidemiology, Survival and Treatment EUMDS: European Registry for Myelodysplastic Syndromes - part of EuroLeukemiaNet European Public (ELN) Euro HD Registry 3 - REGISTRY- A study by the European Huntingtons Disease Network European Public (EHDN) EURO WILSON: Creating a European Clinical Database and designing randomised National Not defined controlled clinical trials for Wilson disease - UK EURODSD: European disorders of sexual development registry (FINISHED) European Not defined EUROPAC: the European registry of hereditary pancreatitis and familial pancreatic European Public cancer European Prader-Willi syndrome database European Public EURO-WABB: An EU Rare Diseases Registry for Wolfram Syndrome, Alstrom Syndrome, European Public Bardet-Biedl Syndrome and Other Rare Diabetes Syndromes - UK Familial Ovarian Cancer Register (FOCR) National Public Glasgow registry of congenital anomalies - part of BINOCAR and EUROCAT network Regional Public Global FKRP registry (Global Fukutin-Related Protein defects registry) - Part of TREAT- Global Public NMD Alliance Great Ormond Street Hospital Congenital Melanocytic Naevus Registry National Public Health Agents: Agent-based distributed decison support system for brain tumour and Global Not defined diagnosis and prognosis Hunter Outcome Survey (HOS): patient registry Global Public I-DSD: Disorders of sexual development registry Global Public LCH: English Langerhans cell histiocytosis registry National Public MCRN078 (E2080-E044-401): European Registry of Anti-Epileptic Drug Use in Patients National Public with Lennox-Gastaut Syndrome - UK Merseyside and Cheshire registry of congenital anomalies -part of BINOCAR and Regional Public EUROCAT network Myotonic dystrophy patient registry in United Kingdom - part of the TREAT-NMD National Public network National Congenital Anomaly System (NCAS) - part of BINOCAR and EUROCAT network Regional Public NDSCR - National Down syndrome cytogenetic registry - part of BINOCAR and EUROCAT National Public network NHD: the national haemophilia database National Not defined NHR: National Haemoglobinopathy Registry National Public NorCAS - Northern registry of congenital anomalies - part of BINOCAR and EUROCAT Regional Public network Regional spinocerebellar ataxia registry Regional Public

Orphanet Report Series - Rare Disease Registries in Europe - January 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf 31 Registry for Patients with Niemann-Pick Type C Disease Not defined Not defined SWCAR - South West congenital anomalies registry - part of BINOCAR and EUROCAT Regional Public network The Alström syndrome UK (ASUK) Clinical Research Database National Public The International GNE Myopathy Registry - Hereditary Inclusion Body Myopathy- National Public Disease Monitoring (HIBM-DMP): A Combined Registry and Prospective Observational Natural History Study to Assess HIBM Disease (part of the TREAT-NMD network) - UK The MTM and CNM Registry - The Myotubular and Centronuclear Myopathy Patient National Public Registry The National Chronic Granulomatous Disease Registry National Public UK & Ireland Fanconi Anaemia Registry National Public UK and Ireland Duchenne and Becker muscular dystrophy patient registry (part of the National Not defined TREAT-NMD network) UK and Ireland Spinal muscular atrophy (SMA) patient registry (part of the TREAT-NMD National Public network) UK Dyskeratosis Congenita (DC) registry National Public UK Huntington disease registry (collaborating with the EHDN/Euro HD Registry) National Public UK Myotonic dystrophy type I patient registry (part of the TREAT-NMD network) National Public UK national Acromegaly patient register National Public UK Neurofibromatosis 2 (NF2) Patient Registry National Public UK Paediatric ITP (Immune Thrombocytopenic Purpura) Registry National Public UK Registry for Central Hypoventilation Syndrome (CHS) National Public UK renal rare disease registry National Private for-profit UK Thrombotic Thrombocytopenia Purpura (UKTTP) Registry National Public UKAITPR: United Kingdom adult idiopathic thrombocytopenic purpura registry National Public UKCCCR: English familial ovarian cancer patient registry National Not defined UKESR: United Kingdom Evans Syndrome Registry National Public UKFITPR: United Kingdom familial idiopathic thrombocytopenic purpura (ITP) Registry National Public United Kingdom neuromyelitis optica registry National Public WANDA - Wessex registry of antenatally detected anomalies - part of BINOCAR and Regional Public EUROCAT network West Midlands registry of congenital anomalies - part of BINOCAR and EUROCAT Regional Public network

32 Orphanet Report Series - Rare Disease Registries in Europe - January 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf European registries

EUROPEAN REGISTRIES (45 registries) ENGLISH LABEL OF THE ACTIVITY COORDINATION AFFILIATION Cystadane post marketing registry of patient with homocystinuria FR Private for-profit DYSCERNE's dysmorphology diagnostic system (DDS) GB Public ECARUCA: cytogenetic and clinical database on rare chromosomal disorders NL Public EDMUS: European Database for Multiple Sclerosis and other related diseases FR Public EHDN: Observational Study of the European Huntington's Disease Network PL Public EHN - EURO-HISTIO-NET: European registry of Langerhans Cell Histiocytosis FR Public EHR: European Haemoglobinopathy Registry GB Public EIMD: European registry and network for intoxication type metabolic diseases GB Public EIMD: European registry and network for intoxication type metabolic diseases IT Public EMBARC - European Bronchiectasis Registry - project member germany DE Public Enroll-HD: A Prospective Registry Study in a Global Huntingtons Disease Cohort GB Public EPCOT: European prospective cohort on thrombophilia NL Private for-profit EPI-EPNET: European hepatic and erythropoietic porphyrias registry FR Public ERNEST - European Registry for Myeloproliferative Neoplasms towards a better GB Private for-profit understanding of Epidemiology, Survival and Treatment Escort-Hu: European sickle cell disease cohort- hydroxyurea FR Private for-profit ESPN/ERA-EDTA Registry: European Registry for Children on Renal Replacement NL Public Therapy Estonian Rare Diseases Registry for Wolfram syndrome, Alström syndrome, Bardet- EE Public Biedl syndrome and other rare diabetes syndromes - contribuiting to EURO-WABB EU-CHS: European central hypoventilation syndrome registry FR Public EUGINDAT-PIADATABASE: European primary inherited aminoacidurias database ES Not defined EUMDS: European Registry for Myelodysplastic Syndromes - part of EuroLeukemiaNet GB Public (ELN) EURADRENAL: European patient registry on autoimmune Addison's disease (sera, NO Public DNA and RNA) EURECHINOREG: European registry of alveolar echinococcosis FR Public Euro HD Registry 3 - REGISTRY- A study by the European Huntingtons Disease GB Public Network (EHDN) EURODSD: European disorders of sexual development registry (FINISHED) GB Not defined EUROMAC: Registry of patients affected by McArdle Disease ES Public EUROPAC: the European registry of hereditary pancreatitis and familial pancreatic GB Public cancer European multicenters SCLS (systemic capillary leak syndromes) registry FR Public European Porphyria Registry (EPR) NO Public European Prader-Willi syndrome database GB Public European prospective registry of children born to mothers affected by the FR Public antiphospholipids syndrome EUROTRAPS: European patient registry on TRAPS syndrome FR Public EURO-WABB: An EU Rare Diseases Registry for Wolfram Syndrome, Alstrom Syndrome, ES Public Bardet-Biedl Syndrome and Other Rare Diabetes Syndromes - ES

Orphanet Report Series - Rare Disease Registries in Europe - January 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf 33 EURO-WABB: An EU Rare Diseases Registry for Wolfram Syndrome, Alstrom Syndrome, GB Public Bardet-Biedl Syndrome and Other Rare Diabetes Syndromes - UK EUROWILSON: Registry and network to improve the management of Wilson Disease IT Public German epilepsy registry DE Public HAE-registry: European hereditary angioedema patient registry IT Public HUE-MAN patient registry on alpha mannosidosis NO Public PFAPA Registry: Periodic fever aphtous stomatitis, pharyngitis and adenopathy CH Not defined patient registry Registry for Wolfram syndrome, Alström syndrome, Bardet-Biedl syndrome and other IT Public rare diabetes syndromes - contributing to EURO-WABB Registry for Wolfram syndrome, Astrom syndrome, Bardet-Biedl syndrome and other PL Public rare diabetes syndromes contributing do EURO-WABB SCETIDE - Stem CEll Transplant for primary Immune Deficiencies in Europe FR Public Swedish and Finnish registry of CADASIL patients SE Public VALID: cohort creation on Budd-Chiari syndrome, hepatic venooclusive disease, FR Public hepatoportal sclerosis and portal vein thrombosis Vedrop registry of chronic cholestasis patient with vitamin E deficiency FR Private for-profit X-ALD: X-linked adrenoleukodystrophy database NL Public

34 Orphanet Report Series - Rare Disease Registries in Europe - January 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf International registries

INTERNATIONAL REGISTRIES (71 registries) ENGLISH LABEL OF THE ACTIVITY COORDINATION AFFILIATION ARegPKD - an international registry study for autosomal recessive polycystic kidney DE Public disease CCRN 1055: Osteonecrosis of the Jaw (ONJ) Case Registry GB Not defined CCRN 1093 (aHUS): An observational, non-interventional multicenter, multinational GB Not defined study of patients with Atypical HemolyticUremic Syndrome (aHUS Registry) CCRN 2421 (Noonan/RASopathy patients): A registry study to characterize genetic and GB Not defined pathway biomarkers in Noonan syndrome and other RASopathy patients - UK CEDATA-GPGE: Registry of Children with Inflammatory Bowel Disease in Germany and DE Public Austria CPT-SIOP-Registry : International Registry for Choroid Plexus Tumors DE Public CWS-SoTiSaR: A registry for soft tissue sarcoma and other soft tissue tumours in DE Public children, adolescents, and young adults DMD registry - Hungary - contributes to the TREAT-NMD network HU Public DÖSAK tumor registry for documentation of tumors of the face and jaws in germany, DE Public austria and switzerland EBAR: European Biliary Atresia Registry DE Public EHDN: European Huntington's disease registry DE Public EHDN: neuroacanthocytosis patient registry DE Public EHDN: registry of juvenile Huntington's disease GB Public EIMD: European registry and network for intoxication type metabolic diseases DE Public EMSA-SG: central patient registry of the European multiple system atrophy network AT Public ENETS: European Neuroendocrine Tumour Registry DE Public ENRAH: European alternating hemiplegia and rare epilepsies registry in childhood AT Private non-for-profit Enroll-HD - A Prospective Registry Study in a Global HD Cohort IT Public ERCUSYN: European registry on Cushing's syndrome ES Public ESID: European registry of primary immunodeficiencies DE Public EUNEFRON: registry of the European network for the study of orphan nephropathies BE Public EU-RHAB: European Rhabdoid Tumor Registry DE Public eurIPFreg: European idiopathic pulmonary fibrosis registry DE Public EUROFA - EFACT: European Friedreich Ataxia Registry DE Public EUROFEVER: European registry for autoinflammatory diseases IT Public EUROGLYCANET - International patient registry and cohort for congenital disorders of BE Private for-profit glycosylation European chILD-registry and biobank of the european network for children's interstitial DE Public lung diseases (chILD-EU). European Parathyroid Tumor Registry NL Public EUROSCA-R: European patient registry on spinocerebellar ataxias DE Public EUTOS: European chronic myeloid leukemia patient registry (collaboration between the DE Public European LeukemiaNet and Novartis Europe) FOS : Fabry Outcome Survey SE Private for-profit

Orphanet Report Series - Rare Disease Registries in Europe - January 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf 35 Global FKRP registry (Global Fukutin-Related Protein defects registry) - Part of TREAT- GB Public NMD Alliance Health Agents: Agent-based distributed decison support system for brain tumour and GB Not defined diagnosis and prognosis HOS : Hunter Outcome Survey SE Private for-profit Hunter Outcome Survey (HOS): patient registry GB Public I-DSD: Disorders of sexual development registry GB Public International Dystrophic Epidermolysis Bullosa Patient Registry NL Public International pheochromocytoma and paraganglioma registry DE Public International registry of bone fragility fractures in the young IT Public International Registry of congenital dyserythropoietic anemia II IT Public International Registry of Rare Bleeding Disorders (RBDD) IT Not defined International registry of recurrent and familial hemolytic uremic syndrome/thrombotic IT Private thrombocytopenic purpura non-for-profit IOS : Icatibant Outcome Survey for hereditory angioedema SE Private for-profit Kids Lung Register: International register and biobank for rare lung diseases DE Public KINDLERNET: Central patient registry Kindler syndrome DE Public MEFOPA: registry for patients with rare Mendelian forms of Parkinson's Disease DE Public NCL-Registry: International neuronal ceroid lipofuscinoses patient registry DE Public Nephronophthisis registry for patients in germany, austria and switzerland DE Public NHL-BFM Registry 2012: Registry of the NHL-BFM study group for all subtypes of Non- DE Public Hodgkin Lymphoma diagnosed in children and adolescents OSTEOPETR: International registry of patients suffering from osteopetrosis DE Public Pediatric granulomatous arthritis international registry BE Private for-profit Perihilar Cholangiocarcinoma International Registry CH Public PGRx : Immune thrombocytopenic purpura (ITP) FR Private non-for-profit PGRx : Lupus FR Private non-for-profit PGRx : Myositis FR Private non-for-profit PGRx: Suspected rheumatoid arthritis FR Private non-for-profit PHARMACHILD patient registry: Long-term pharmacovigilance for adverse effects in NL Public childhood arthritis, focusing on immune modulatory drugs (part of PRINTO network) PNH Registry: Paroxysmal Nocturnal Hemoglobinuria registry CH Private for-profit PODONET: Registry for Steroid-Resistant Nephrotic Syndrome (SRNS) patients DE Public RegiSCAR: International registry of severe cutaneous adverse reactions (SCAR) to drugs DE Public and collection of biological samples - patient registry Register for rare myeloproliferative neoplasms DE Public RetDis Database: clinical descriptions of patients and families with inherited eye DE Public diseases ROMSE: German patient registry of orofacial manifestations in rare diseases DE Private non-for-profit STER: FVII deficiency treatment international registry DE Public STRIVE: A Long-term, Multi-center, Longitudinal Post-marketing, Observational Registry NL Public to Assess Long Term Safety and Effectiveness of HUMIRA® (Adalimumab) in Children With Moderately to Severely Active Polyarticular or Polyarticular-course Juvenile Idiopathic Arthritis (JIA) - NL The intenational Pompe registry NL Public The International Collaborative Gaucher Group (ICGG) Gaucher registry NL Private for-profit The international Fabry registry NL Private for-profit 36 Orphanet Report Series - Rare Disease Registries in Europe - January 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf The international Mps I registry NL Private for-profit TIRCON: NBIA (Neurodegeneration with Brain Iron Accumulation) patient registry and DE Public biobank TTP: International registry on thrombotic thrombocytopenic purpura IT Not defined

For any questions or comments, please contact us: [email protected]

Editor-in-chief: Ana Rath  Editor of the report: Sandra Peixoto Visual design : Julie Christ  Photography : Patrice Latron / Inserm

The correct form when quoting this document is: « Rare Disease Registries in Europe », Orphanet Report Series, Rare Diseases collection, January 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf

Orphanet Report Series - Rare Disease Registries in Europe - January 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf 37