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Prevalence distribution of rare diseases 200 Orphanet Report Series 180 160 collection 140 Rare Diseases 120 100 80 Number Number of diseases 60 May 2009 40 May 2010 Number 1 20 0 0 5 10 15 20 25 30 35 40 45 50 Estimated prevalence (/100000) Prevalence of rare diseases: Bibliographic data Listed in alphabetical order of diseases www.orpha.net 20091215 Methodology A systematic survey of the literature is being Updated Data performed in order to provide an estimate of the New information from available data sources: EMA, prevalence of rare diseases in Europe. An updated new scientific publications, grey literature, expert report will be published regularly and will replace opinion. the previous version. This update contains new epidemiological data and modifications to existing data for which new information has been made Limitation of the study available. The exact prevalence rate of each rare disease is difficult to assess from the available data sources. Search strategy There is a low level of consistency between studies, a poor documentation of methods used, confusion The search strategy is carried out using several data between incidence and prevalence, and/or confusion sources: between incidence at birth and life-long incidence. - Websites: Orphanet, e-medicine, GeneClinics, EMA The validity of the published studies is taken for and OMIM ; granted and not assessed. It is likely that there - Medline is consulted using the search algorithm: is an overestimation for most diseases as the few «Disease names» AND Epidemiology[MeSH:NoExp] published prevalence surveys are usually done in OR Incidence[Title/abstract] OR Prevalence[Title/ regions of higher prevalence and are usually based abstract] OR Epidemiology[Title/abstract] ; on hospital data. Therefore, these estimates are an - Medical books, grey literature and reports from indication of the assumed prevalence but may not experts are also important sources of data. be accurate. Collected data Prevalence values provided are the mean of the highest and lowest values collected. When prevalence is not documented we calculate it using incidence: - For congenital diseases with birth-onset, prevalence = incidence at birth x (patient life expectancy/ general population life expectancy) ; - For the other rare diseases, prevalence = incidence x rare disease mean duration ; When no prevalence or incidence data are available, the number of cases reported in the literature is provided. NB: Life expectancy of the French population (78 years) is used as the general population life expectancy. For any questions or comments, please contact us: [email protected] Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May 2010 - Number 1 2 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf Prevalence or reported number of published cases listed in alphabetical order of diseases number of number of Estimated Estimated published published Diseases name prevalence Diseases name prevalence cases or cases or (/100,000) (/100,000) families families 2,8 dihydroxyadenine urolithiasis 1,7 Acrocallosal syndrome, Schinzel type 34 cases 3C syndrome 25 cases Acrocephalosyndactyly 4,6 3-hydroxy 3-methylglutaryl-CoA synthase 6 cases Acrocraniofacial dysostosis 2 cases deficiency Acrodermatitis enteropathica, zinc 0,2 3M syndrome 40 cases deficiency type 3-methylcrotonylglycinuria 2,25 Acrofacial dysostosis, Catania type 6 cases 3-methylglutaconic aciduria type 1 20 cases Acrofacial dysostosis, Nager type 90 cases 3-methylglutaconic aciduria type 3 10 Acrofacial dysostosis, palagonia type 4 cases 46,XX disorder of sex development - 2 cases Acrofacial dysostosis, Rodriguez type < 10 cases skeletal anomalies Acro-fronto-facio-nasal dysostosis 5 cases 46,XX gonadal dysgenesis 12 Acromegaloid facial appearance syndrome < 20 cases 46,XY disorder of sex development - 2 cases Acromegaloid facies - hypertrichosis < 20 cases adrenal insufficiency Acromegaly 5 46,XY gonadal dysgenesis - motor and 6 cases sensory neuropathy Acromegaly - cutis verticis gyrata - 16 cases corneal leukoma 4-hydroxybutyricaciduria 350 cases Acromelanosis < 10 cases 5-oxoprolinase deficiency 8 cases Acromesomelic dysplasia, Brahimi-Bacha 3 cases 6-pyruvoyl-tetrahydropterin synthase 248 cases type deficiency Acromesomelic dysplasia, Hunter- 10 cases 6q terminal deletion 19 cases Thomson type Aarskog-Scott syndrome > 200 cases Acromesomelic dysplasia, Maroteaux type 50 cases Aase-Smith syndrome < 10 cases Acromicric dysplasia < 40 cases Ablepharon macrostomia syndrome 15 cases Acroosteolysis dominant type 50 cases Abruzzo-Erickson syndrome 4 cases Acro-pectoral syndrome 22 cases Absence of fingerprints - congenital milia 14 cases Acro-pectoro-renal field defect 12 cases Acalvaria < 1** Acropectorovertebral dysplasia < 30 cases Acanthamoeba keratitis 1 Acrorenal syndrome 20 cases Acatalasemia 3,1 Acro-renal-mandibular syndrome 7 cases Aceruloplasminemia 0,1 Acro-renal-ocular syndrome < 20 families Achalasia - microcephaly 5 cases Action myoclonus - renal failure syndrome 17 cases Acheiropodia < 10 families Acute bilateral depigmentation of the iris 5 cases Achondrogenesis > 100 cases Acute intermittent porphyria 10,1 Achondroplasia 4,5 Acute intermittent porphyria 10 Achromatopsia 3,33 Acute interstitial pneumonia 3,8 Ackerman syndrome 8 cases Acute lymphoblastic leukemia 6,5 Aconitase deficiency 19 cases Acute myeloid leukemia 12,1 Acquired epidermolysis bullosa 100 cases Acute myeloid leukemia 11,8 Acquired generalized lipodystrophy 80 cases Acute promyelocytic leukemia 8 Acquired hemophilia 0,1 Acute recurrent pancreatitis 10 Acquired hypertrichosis lanuginosa 60 cases Adamantinoma 513 cases Acquired Von Willebrand syndrome 300 cases ** Prevalence at birth Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May 2010 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf 3 Prevalence of rare diseases: Bibliographic data - Listed in alphabetical order of diseases number of number of Estimated Estimated published published Diseases name prevalence Diseases name prevalence cases or cases or (/100,000) (/100,000) families families Adducted thumbs - arthrogryposis, 3 families Alveolar echinococcosis < 1000 cases Christian type Amaurosis - hypertrichosis 2 cases Adducted thumbs-arthrogryposis, Dundar 5 cases Ambras syndrome 40 cases type Amelo-cerebro-hypohidrotic syndrome 19 cases Adenosine monophosphate deaminase 200 cases deficiency Aminopterin embryofetopathy 17 cases Adenylosuccinate lyase deficiency 50 cases Amniotic bands 4** Adrenocortical carcinoma 1 Amoebiasis due to free-living amoebae 1,75 Adult acute respiratory distress syndrome 30 Amyloidosis 30 Adult Still's disease 1,23 Amyotrophic lateral sclerosis 5,2 ADULT syndrome 14 cases Anaplastic large cell lymphoma 2 Agammaglobulinemia - microcephaly - 3 cases Anaplastic thyroid carcinoma 0,13 craniosynostosis - severe dermatitis ANE syndrome 5 cases Agenesis of the corpus callosum 2 cases Anencephaly 3,2** - intellectual deficit - coloboma - micrognathia Angelman syndrome 6,5 Agnathia - holoprosencephaly - situs 30 cases Angel-shaped phalango-epiphyseal 15 cases inversus dysplasia Agonadism - dextrocardia - diaphragmatic 6 cases Angio-osteohypertrophic syndrome 1000 cases hernia Anhidrotic ectodermal dysplasia 2 cases Aicardi syndrome 200 cases - immunodeficiency - osteopetrosis - lymphedema Aicardi-Goutieres syndrome 120 cases Aniridia 1,75 Alagille syndrome 1,4 Aniridia - absent patella 3 cases Alar cartilages hypoplasia - coloboma - 2 cases telecanthus Aniridia - cerebellar ataxia - mental > 10 families deficiency Albers-Schönberg osteopetrosis 1 Aniridia - ptosis - intellectual deficit - 3 cases Albinism ocular - late onset sensorineural 7 cases familial obesity deafness Aniridia - renal agenesis - psychomotor 2 cases Albinism-deafness syndrome 1 family retardation Albright hereditary osteodystrophy 0,72 Aniridia-intellectual deficit syndrome 2 cases Alexander disease 300 cases Anisakiasis 3,8 Al-Gazali-Dattani syndrome 3 cases Ankyloblepharon - ectodermal defects - 8 families Alkaptonuria 0,3 cleft lip palate Allan-Herndon-Dudley syndrome 89 cases Ankyloblepharon filiforme - imperforate 2 families anus Alopecia - congenita keratosis 1 family palmoplantaris Ankylosing vertebral hyperostosis with 8 cases tylosis Alopecia - contractures - dwarfism - 5 cases intellectual deficit Anomaly of bile acid synthesis 0,6 Alopecia- epilepsy - pyorrhea - mental 12 cases Anonychia - onychodystrophy with 11 cases subnormality hypoplasia or absence of distal phalanges Alopecia totalis 10,5 Anonychia microcephaly 5 cases Alopecia universalis 25 Anonychia with flexural pigmentation 3 cases Alpers syndrome 0,025 Anophthalmia - hypothalamo-pituitary 30 cases insufficiency Alpha thalassemia - intellectual deficit, 168 cases X-linked Anophthalmia - megalocornea - 3 cases cardiopathy - skeletal anomalies Alpha-1 antitrypsin deficiency 25 Anophthalmia plus syndrome 4 cases Alpha-mannosidosis 0,1 Anophthalmia/microphthalmia - 14 cases Alpha-N-acetylgalactosaminidase 12 cases esophageal atresia deficiency Antecubital pterygium syndrome 11 cases Alport syndrome 2 Antisynthetase syndrome 1,5 Alström syndrome 300 cases ** Prevalence at birth Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May 2010 - Number 1 4 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf Prevalence of rare
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