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Prevalence and Incidence of Rare Diseases: Bibliographic Data Number 2 | January 2021 Prevalence and incidence of rare diseases: Bibliographic data Diseases listed by decreasing prevalence, incidence or number of published cases www.orpha.net www.orphadata.org When a range of data sources is available, the most recent Methodology data source that meets a certain number of quality criteria is favoured (registries, meta-analyses, population-based Orphanet carries out a systematic survey of literature in studies, large cohorts studies). order to estimate the prevalence and incidence of rare diseases. This study aims to collect new data regarding For congenital diseases, the prevalence is estimated, so point prevalence, birth prevalence and incidence, and to that: update already published data according to new scientific Prevalence = birth prevalence x (patient life studies or other available data. expectancy/general population life expectancy). This data is presented in the following reports published When only incidence data is documented, the prevalence biannually: is estimated when possible, so that : • Prevalence, incidence or number of published cases Prevalence = incidence x disease mean duration. listed by diseases (in alphabetical order) ; • Diseases listed by decreasing prevalence, incidence or number of published cases ; When neither prevalence nor incidence data is available, which is the case for very rare diseases, the number of Data collection cases or families documented in the medical literature is provided. A number of different sources are used : Limitations of the study • Registries (RARECARE, EUROCAT, etc) ; The prevalence and incidence data presented in this report are only estimations and cannot be considered to be National/international health institutes and agencies • absolutely correct. (Institut National de Veille Sanitaire (French Institute The average values presented in this report do not take into of Health Surveillance); American Center of Disease Control and Prevention, American National Cancer account the heterogeneous nature of the methodologies Institute, European Medicines Agency, World Health employed by the studies considered in the literature Organization etc) ; survey. • Medline is consulted using the following search The validity and exactitude of raw data sources is taken for algorithm : «Disease names» AND granted and have not been verified. Thus, confusion Epidemiology[MeSH:NoExp] OR between terms such as incidence and prevalence and/or Incidence[Title/abstract] OR Prevalence[Title/ birth prevalence is possible due to the interchangeable use abstract] OR Epidemiology[Title/abstract]; of these terms in certain sources. • Medical texts, grey literature and reports from experts ; It is possible that prevalence is overestimated in some cases as epidemiological studies are generally based on • Orphanet collaborating experts hospital data in regions with higher prevalence. Data characteristics Data presentation The data published in this document are worldwide Without specification, published figures are worldwide. estimations, or European estimations if a worldwide An asterisk * indicates European data. estimation is not available. BP indicates birth prevalence The published data is raw collected data or extrapolations of raw data at worldwide or European level when no Please note that this is just a selection of Orphanet's rare genetic founder effect is suspected as a cause of a disease. disease epidemiological data. Currently 6077 rare diseases are annotated with prevalence or incidence If a range of national data is available, the average is information in the Orphanet database. To access the calculated to estimate the worldwide or European complete data sets visit Orphadata (www.orphadata.org). prevalence or incidence. Without specification, published figures are worldwide. An asterisk * indicates European data. BP indicates birth prevalence Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2021 - Number 2 2 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_decreasing_prevalence_or_cases.pdf Estimated ORPHA Disease List of diseases or groups of prevalence Number or Group of diseases (/100,000) diseases by decreasing prevalence 70475 Radiation proctitis 35.0* 2764 Osteochondritis dissecans 35.0* 1048 Isolated anencephaly/exencephaly 35.0 BP* Estimated 73247 Eosinophilic esophagitis 29.0* ORPHA Disease 3303 Tetralogy of Fallot 34.0 BP prevalence Number or Group of diseases (/100,000) 636 Neurofibromatosis type 1 21.3* 870 Down syndrome 95.0 BP 226292 Permanent congenital hypothyroidism 33.3 BP* 870 Down syndrome 97.7 BP* 858 Congenital toxoplasmosis 33.0 BP* 3388 Neural tube defect 91.05 BP* 439167 Placental insufficiency 33.0 199306 Cleft lip/palate 80.0 BP 908 Fragile X syndrome 32.5 182130 Tumor of endocrine glands 64.0* 908 Fragile X syndrome 2.4 BP* 2014 Cleft palate 53.6 BP* 90058 Spinal cord injury 32.0* 93100 Renal agenesis, unilateral 50.0 BP 90051 Sepsis in premature infants 32.0* Pneumonia caused by Pseudomonas 70476 Vernal keratoconjunctivitis 32.0* 90066 50.0* aeruginosa infection 216675 Transposition of the great arteries 31.7 BP* 8 47,XYY syndrome 50.0 BP* 791 Retinitis pigmentosa 30.0* 63259 Iniencephaly 50.0 BP* 729 Polycythemia vera 30.0* 535 Rare cutaneous lupus erythematosus 50.0* 563 Peripartum cardiomyopathy 30.0 BP 48 Congenital bilateral absence of vas deferens 50.0* 3394 Soft tissue sarcoma 30.0* 213500 Ovarian cancer 49.0* 33208 Idiopathic hypersomnia 30.0* 289390 Primary Sjögren syndrome 48.99* 330001 Wild type ATTR amyloidosis 30.0* 67038 B-cell chronic lymphocytic leukemia 48.0* 314701 Primary systemic amyloidosis 30.0* 2185 Congenital hydrocephalus 46.5 BP* 2140 Congenital diaphragmatic hernia 30.0 BP 391673 Necrotizing enterocolitis 45.0 1330 Partial atrioventricular septal defect 20.0 BP* 275555 Preeclampsia 45.0* 3303 Tetralogy of Fallot 29.3 BP* 137686 Asherman syndrome 44.0* 73247 Eosinophilic esophagitis 34.4 Non-acquired combined pituitary hormone 93108 Renal dysplasia 43.5 BP* 467 29.0 BP* 544 Diffuse large B-cell lymphoma 43.0* deficiency 3375 Trisomy X 42.5* 411527 Central retinal vein occlusion 28.0* 801 Scleroderma 42.0 1656 Dermatitis herpetiformis 27.0* 363999 Non-immune hydrops fetalis 42.0 BP 791 Retinitis pigmentosa 26.7 217071 Renal cell carcinoma 42.0* 70568 Post-transplant lymphoproliferative disease 26.2* 98497 Genetic peripheral neuropathy 40.0 182067 Glial tumor 26.0* 97292 Cardiogenic shock 40.0* 54057 Thrombotic thrombocytopenic purpura 25.5* Acute sensorineural hearing loss by acute Cytomegalovirus disease in patients with 90059 acoustic trauma or sudden deafness or 40.0* 137698 impaired cell mediated immunity deemed at 25.5* surgery induced acoustic trauma risk 768 Familial long QT syndrome 40.0 BP* 95719 Thyroid hemiagenesis 25.0 402823 Hepatitis delta 40.0* 93402 Syndactyly type 1 25.0 BP* 294 Fetal cytomegalovirus syndrome 40.0* 703 Bullous pemphigoid 25.0* 101016 Romano-Ward syndrome 40.0* 701 Alopecia universalis 25.0* Autosomal dominant polycystic kidney 3002 Immune thrombocytopenia 25.0* 730 39.6* disease 2073 Narcolepsy type 1 25.0* 3189 Congenital pulmonary valve stenosis 39.3 BP* 186 Primary biliary cholangitis 21.05 Charcot-Marie-Tooth disease/Hereditary 98715 Uveitis 38.0* 166 25.0* 442 Congenital hypothyroidism 38.0 BP* motor and sensory neuropathy Hereditary breast and ovarian cancer 90056 Moderate and severe traumatic brain injury 37.8* 145 25.0* syndrome 567 22q11.2 deletion syndrome 9.6 BP* 94058 Neovascular glaucoma 24.4* 226295 Primary congenital hypothyroidism 37.5* 1531 Craniosynostosis 24.3 BP* 545 Follicular lymphoma 37.0* 1199 Esophageal atresia 24.3 BP* 340 Hemorrhagic fever-renal syndrome 37.0* Congenitally uncorrected transposition of the Non-papillary transitional cell carcinoma of 860 24.25 BP* 209989 37.0* great arteries the bladder 557 Isolated anorectal malformation 20.0 BP High-grade dysplasia in patients with Barrett 231080 36.0* esophagus 171901 Primary cutaneous T-cell lymphoma 24.0* 1457 Aorta coarctation 35.6 BP* 2137 Autoimmune hepatitis 23.5 94059 Uremic pruritus 35.0* 1851 Multicystic dysplastic kidney 23.26 BP 97363 Unilateral multicystic dysplastic kidney 23.2 BP Without specification, published figures are worldwide. An asterisk * indicates European data. BP indicates birth prevalence Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2021 - Number 2 3 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_decreasing_prevalence_or_cases.pdf Estimated Estimated ORPHA Disease ORPHA Disease prevalence prevalence Number or Group of diseases Number or Group of diseases (/100,000) (/100,000) Scarring in glaucoma filtration surgical 90291 Systemic sclerosis 15.4* 90080 22.0* procedures 2248 Hypoplastic left heart syndrome 15.1 BP* Pulmonary fungal infections in patients 217080 22.0* 88673 Hepatocellular carcinoma 15.0* deemed at risk 558 Marfan syndrome 20.0* 217067 Pouchitis 22.0* 309297 Mucopolysaccharidosis type 4A 15.0* Congenital hypothyroidism due to 95711 21.3* 2828 Young-onset Parkinson disease 15.0* developmental anomaly 2382 Lennox-Gastaut syndrome 15.0* 636 Neurofibromatosis type 1 33.3 BP 221061 Familial cerebral cavernous malformation 15.0 2140 Congenital diaphragmatic hernia 21.2 BP* 163934 Atopic keratoconjunctivitis 15.0* 186 Primary biliary cholangitis 25.0* 97363 Unilateral multicystic dysplastic kidney 14.8 BP* 1646 Partial chromosome Y deletion 20.8 166260 Dentinogenesis imperfecta type 2 14.6* 85410 Oligoarticular juvenile
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