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