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Rare Disease Registries in Europe - May 2017 2 May 2017 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 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 11 1- Distribution of registries by country 11 2- Distribution of registries by coverage 12 3- Distribution of registries by affiliation 12 Distribution of registries by country 13 European registries 37 International registries 39 Orphanet Report Series - Rare Disease Registries in Europe - May 2017 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 authorization is usually granted at a time when evidence is still limited although already somewhat convincing. This report gathers 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 RARECARENet or focus on a rare form of cancer. The report includes data about EU countries and other neighbour 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. Orphanet Report Series - Rare Disease Registries in Europe - May 2017 3 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf List of rare diseases that are covered by the listed registries Orpha Disease name 2666 Adult familial 747 Autoimmune pulmonary Number nephronophthisis-spastic alveolar proteinosis 98078 46,XX disorder of sex quadriparesia syndrome 71203 Autoimmune development induced by 86875 Adult T-cell thrombocytopenia androgens excess leukemia/lymphoma 93665 Autoinflammatory syndrome 752 46,XY disorder of sex 829 Adult-onset Still disease development due to 17-beta- 99 Autosomal dominant hydroxysteroid 300846 Aggressive B-cell non- cerebellar ataxia dehydrogenase 3 deficiency Hodgkin lymphoma 94145 Autosomal dominant 753 46,XY disorder of sex 86873 Aggressive NK-cell leukemia cerebellar ataxia type I development due to 5-alpha- 94148 Autosomal dominant reductase 2 deficiency 1164 Allergic bronchopulmonary cerebellar ataxia type III aspergillosis 325351 46,XY disorder of sex 73229 Autosomal dominant familial development of endocrine 60 Alpha-1-antitrypsin deficiency hematuria-retinal arteriolar origin tortuosity-contractures 61 Alpha-mannosidosis 13 6-pyruvoyl-tetrahydropterin syndrome synthase deficiency 846 Alpha-thalassemia 34149 Autosomal dominant 988 Absent tibia-polydactyly medullary cystic kidney syndrome 63 Alport syndrome disease with or without 48818 Aceruloplasminemia hyperuricemia 64 Alström syndrome 1797 Autosomal dominant 15 Achondroplasia spondylocostal dysostosis 2131 Alternating hemiplegia of 79278 Autosomal erythropoietic 49382 Achromatopsia childhood protoporphyria 284 Alveolar echinococcosis 101963 Acquired chronic primary 1172 Autosomal recessive cerebellar ataxia adrenal insufficiency 803 Amyotrophic lateral sclerosis 73274 Acquired hemophilia 34515 Autosomal recessive limb- 251630 Anaplastic oligodendroglioma girdle muscular dystrophy 79356 Acrokeratoderma type 2I 754 Androgen insensitivity 731 Autosomal recessive syndrome polycystic kidney disease 72 Angelman syndrome 2512 Autosomal recessive primary 963 Acromegaly microcephaly 77 Aniridia 99892 ACTH-dependent Cushing 2311 Autosomal recessive spondylocostal dysostosis syndrome 98555 Anophthalmia-microphthalmia 318 Acute erythroid leukemia syndrome 782 Axenfeld-Rieger syndrome 96346 Anorectal malformation 293173 Acute generalized 110 Bardet-Biedl syndrome exanthematous pustulosis 375 Anti-glomerular basement 111 Barth syndrome 79276 Acute intermittent porphyria membrane disease 2299 Aortic arch interruption 67038 B-cell chronic lymphocytic 79126 Acute interstitial pneumonia leukemia 87 Apert syndrome 513 Acute lymphoblastic leukemia 86852 B-cell prolymphocytic leukemia 320 Apparent mineralocorticoid 518 Acute megakaryoblastic excess 98895 Becker muscular dystrophy leukemia 90 Argininemia 514 Acute monoblastic leukemia 116 Beckwith-Wiedemann syndrome 23 Argininosuccinic aciduria 519 Acute myeloid leukemia 117 Behçet disease 517 Acute myelomonocytic 247 Arrhythmogenic right 848 Beta-thalassemia leukemia ventricular cardiomyopathy 35889 Acute opioid poisoning 610 Bethlem myopathy 94 Astrocytoma 520 Acute promyelocytic leukemia 30391 Biliary atresia 100 Ataxia-telangiectasia 309120 Acyl-CoA dehydrogenase 179 Birdshot chorioretinopathy deficiency 1201 Atresia of small intestine 124 Blackfan-Diamond anemia 85138 Addison disease 85447 ATTRV30M amyloidosis 90340 Blau syndrome 45 Adenosine monophosphate 2134 Atypical hemolytic-uremic deaminase deficiency syndrome 16 Blue cone monochromatism 100091 Adrenal/paraganglial tumor 98375 Autoimmune hemolytic 223727 Bone sarcoma 1501 Adrenocortical carcinoma anemia 3143 Autoimmune polyendocrinopathy type 2 Orphanet Report Series - Rare Disease Registries in Europe - May 2017 4 http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf 168598 Brain demyelination due to 35909 Combined deficiency of factor 54251 Corticosteroid-sensitive methionine V and factor VIII aseptic abscess syndrome adenosyltransferase 1572 Common variable 2935 Crossed polysyndactyly deficiency immunodeficiency 352649 Brain dopamine-serotonin 1329 Complete atrioventricular 553 Cushing syndrome vesicular transport disease canal 79140 Cutaneous neuroendocrine 97287 Bronchial neuroendocrine 1872 Cone rod dystrophy tumor carcinoma 1303 Bronchiolitis obliterans with 973 Congenital 400 Cystic echinococcosis obstructive pulmonary disease absence/hypoplasia of fingers 586 Cystic fibrosis 70589 Bronchopulmonary dysplasia excluding thumb, unilateral 418 Congenital adrenal 213 Cystinosis 131 Budd-Chiari syndrome hyperplasia 2040 Congenital bronchobiliary 397587 Deep dermatophytosis 543 Burkitt lymphoma fistula 1578 Dehydratase deficiency 329931 C3 glomerulonephritis 2140 Congenital diaphragmatic hernia 1652 Dent disease 136 CADASIL 137 Congenital disorder of glycosylation 220 Denys-Drash syndrome 280062 Calciphylaxis 98873 Congenital dyserythropoietic anemia type II 221 Dermatomyositis 137667 Capillary malformation- 327 Congenital factor VII arteriovenous malformation deficiency 98909 Desminopathy syndrome 329 Congenital factor XI deficiency 147 Carbamoyl-phosphate 873 Desmoid tumor synthetase 1 deficiency 331 Congenital factor XIII 83469 Desmoplastic small round cell deficiency 167848 Cardiomyopathy tumor 2020 Congenital fiber-type 1666 Dextrocardia 97286 Carney-Stratakis syndrome disproportion myopathy 335 Congenital fibrinogen 146 Differentiated thyroid 160 Castleman disease deficiency carcinoma 88991 Congenital heart malformation 464343 Catastrophic antiphospholipid 90060 Diffuse alveolar hemorrhage syndrome 442 Congenital hypothyroidism 544 Diffuse large B-cell lymphoma 717 Catecholamine-producing tumor 68378 Congenital limb malformation 31828 Digitalis poisoning 3027 Caudal regression sequence 1928 Congenital lobar emphysema 226 Dihydropteridine reductase 86870 CD4+/CD56+ hematodermic deficiency 97242 Congenital muscular neoplasm 79166 Disorder of amino acid dystrophy 597 Central core disease absorption and transport 370953 Congenital muscular 309830 Disorder of catecholamine dystrophy due to 595 Centronuclear myopathy synthesis dystroglycanopathy 79175 Disorder of gamma- 166 Charcot-Marie-Tooth disease 590 Congenital myasthenic aminobutyric acid metabolism syndrome 309819 Disorder of pterin metabolism 55880 Chondrosarcoma 97245 Congenital myopathy 79167 Disorder of urea cycle 206973 Congenital myotonia 180 Choroideremia metabolism and ammonia 79394 Congenital non-bullous detoxification 68335 Chromosomal anomaly ichthyosiform erythroderma 599 Distal myopathy 2444 Congenital pulmonary airway 18 Distal renal tubular acidosis 379 Chronic granulomatous malformation disease 2414 Congenital pulmonary 255 Dopa-responsive dystonia 2932 Chronic inflammatory lymphangiectasia demyelinating polyneuropathy 3161 Congenital pulmonary 870 Down syndrome 521 Chronic myeloid leukemia sequestration 3090 Congenital pulmonary venous 139402 Drug rash with eosinophilia 101959 Chronic primary adrenal return anomaly and systemic symptoms insufficiency 3091 Congenital systemic veins 262 Duchenne and Becker 247525 Citrullinemia type I anomaly muscular dystrophy 391 Classic Hodgkin lymphoma 93583 Congenital thrombotic 98896 Duchenne muscular dystrophy thrombocytopenic purpura 394 Classic homocystinuria 169826 Congenital vitamin K- 1203 Duodenal atresia dependent coagulation factors 1991 Cleft lip with or without cleft deficiency 1775 Dyskeratosis
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