Number 1 | January 2021 Prevalence and incidence of rare diseases: Bibliographic data Prevalence, incidence or number of published cases listed by diseases (in alphabetical order) www.orpha.net www.orphadata.org is favoured (registries, meta-analyses, population-based studies, Methodology large cohorts studies). For congenital diseases, the prevalence is estimated, so that: Orphanet carries out a systematic survey of literature in order to Prevalence = birth prevalence x (patient life expectancy/general estimate the prevalence and incidence of rare diseases. This population life expectancy). study aims to collect new data regarding point prevalence, birth When only incidence data is documented, the prevalence is prevalence and incidence, and to update already published data estimated when possible, so that : according to new scientific studies or other available data. Prevalence = incidence x disease mean duration. This data is presented in the following reports published When neither prevalence nor incidence data is available, which biannually: is the case for very rare diseases, the number of cases or families documented in the medical literature is provided. • Prevalence, incidence or number of published cases listed by diseases (in alphabetical order); Limitations of the study • Diseases listed by decreasing prevalence, incidence or number of published cases; The prevalence and incidence data presented in this report are only estimations and cannot be considered to be absolutely Data collection correct. The average values presented in this report do not take into A number of different sources are used : account the heterogeneous nature of the methodologies employed by the studies considered in the literature survey. • Registries (RARECARE, EUROCAT, etc) ; The validity and exactitude of raw data sources is taken for • National/international health institutes and agencies granted and have not been verified. Thus, confusion between (Institut National de Veille Sanitaire (French Institute terms such as incidence and prevalence and/or birth prevalence of Health Surveillance); American Center of Disease is possible due to the interchangeable use of these terms in Control and Prevention, American National Cancer certain sources. Institute, European Medicines Agency, World Health It is possible that prevalence is overestimated in some cases as Organization etc) ; epidemiological studies are generally based on hospital data in regions with higher prevalence. • Medline is consulted using the following search algorithm : «Disease names» AND Data presentation Epidemiology[MeSH:NoExp] OR Incidence[Title/abstract] OR Prevalence[Title/ abstract] OR Epidemiology[Title/abstract]; Without specification, published figures are worldwide. An asterisk * indicates European data. P indicates prevalence data • Medical texts, grey literature and reports from experts; I indicates incidence data. BP indicates birth prevalence • Orphanet collaborating experts Please note that this is just a selection of Orphanet's rare Data characteristics disease epidemiological data. Currently 6077 rare diseases are annotated with prevalence or incidence information in the The data published in this document are worldwide estimations, Orphanet database. To access the complete data sets visit or European estimations if a worldwide estimation is not Orphadata (www.orphadata.org). available. The published data is raw collected data or extrapolations of raw data at worldwide or European level when no genetic founder effect is suspected as a cause of a disease. If a range of national data is available, the average is calculated to estimate the worldwide or European prevalence or incidence.When a range of data sources is available, the most recent data source that meets a certain number of quality criteria Without specification, published figures are worldwide. An asterisk * indicates European data. P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2021 - 2 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf Number Prevalence, incidence or number of of Estimated ORPHACod Disease publishe published cases listed by diseases (in prevalence/inciden e or Group of diseases d cases ce (/100,000) alphabetical order) or families 16p13.3 microduplication 27 Cases Number 96078 syndrome of Estimated 42 Cases ORPHACod Disease publishe 352629 16q24.1 microdeletion syndrome prevalence/inciden e or Group of diseases d cases ce (/100,000) 27 Cases or 261250 16q24.3 microdeletion syndrome families 17p13.3 microduplication 50 Cases 11p15.4 microduplication 1 Family 217385 300305 syndrome syndrome 170 11q22.2q22.3 microdeletion 5 Cases 97685 17q11 microdeletion syndrome Cases 444002 syndrome 11 Cases 17q11.2 microduplication 7 Cases 313884 12p12.1 microdeletion syndrome 139474 syndrome 22 Cases 103 94063 12q14 microdeletion syndrome 261265 17q12 microdeletion syndrome Cases 12q15q21.1 microdeletion 6 Cases 289513 syndrome 118 17q12 microduplication 3 Cases 261272 Cases 412035 13q12.3 microdeletion syndrome syndrome 3 Cases 17q21.31 microdeletion 1.82 P* 261120 14q11.2 microdeletion syndrome 363958 syndrome 14q11.2 microduplication 7 Cases 17q23.1q23.2 microdeletion 7 Cases 261229 261279 syndrome syndrome 3 Cases 19 Cases 261144 14q12 microdeletion syndrome 529962 17q24.2 microdeletion syndrome 14q22q23 microdeletion 5 Cases 19p13.12 microdeletion 6 Cases 264200 254346 syndrome syndrome 14q24.1q24.3 microdeletion 3 Cases 19p13.13 microdeletion 7 Cases 401935 357001 syndrome syndrome 33 Cases 19p13.3 microduplication 6 Cases 488280 14q32 duplication syndrome 447980 syndrome 12 Cases 19q13.11 microdeletion 12 Cases 314585 15q overgrowth syndrome 217346 syndrome 200 9 Cases 261183 15q11.2 microdeletion syndrome Cases 293948 1p21.3 microdeletion syndrome 1p31p32 microdeletion 5 Cases 15q11q13 microduplication 30 Cases 401986 238446 syndrome syndrome 2 Cases 246 456298 1p35.2 microdeletion syndrome 199318 15q13.3 microdeletion syndrome Cases 1q21.1 microduplication 46 Cases 250994 syndrome 9 Cases 100 261190 15q14 microdeletion syndrome 238769 1q44 microdeletion syndrome Cases 30 Cases 94065 15q24 microdeletion syndrome 2-aminoadipic 2-oxoadipic 20 Cases 16p11.2p12.2 microdeletion 8 Cases 79154 261211 aciduria syndrome 2-methylbutyryl-CoA 30 Cases 16p11.2p12.2 microduplication 7 Cases 79157 261204 dehydrogenase deficiency syndrome 3 Cases 16p12.1p12.3 triplication 3 Cases 261295 20p12.3 microdeletion syndrome 485405 syndrome 4 Cases 16p13.11 microdeletion 7.0 BP 313781 20p13 microdeletion syndrome 261236 syndrome 11 Cases 162 444051 20q11.2 microdeletion syndrome 16p13.11 microduplication 261243 Cases 21q22.11q22.12 microdeletion 14 Cases syndrome 261323 syndrome 6 Cases 500055 16p13.2 microdeletion syndrome 567 22q11.2 deletion syndrome 9.6 BP* Without specification, published figures are worldwide. An asterisk * indicates European data. P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2021 - 3 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf Number Number of of Estimated Estimated ORPHACod Disease publishe ORPHACod Disease publishe prevalence/inciden prevalence/inciden e or Group of diseases d cases e or Group of diseases d cases ce (/100,000) ce (/100,000) or or families families syndrome 37.5 BP 7 Cases 567 22q11.2 deletion syndrome 397695 3q27.3 microdeletion syndrome 2 Cases 46,XX disorder of sex 363680 2p13.2 microdeletion syndrome 2 Cases 2975 development-skeletal anomalies 2p15p16.1 microdeletion 11 Cases syndrome 261349 syndrome 46,XX ovarian dysgenesis-short 3 Cases 444048 7 Cases stature syndrome 163693 2p21 microdeletion syndrome 500 46,XX ovotesticular disorder of 2p21 microdeletion syndrome 2 Cases 2138 Cases 369881 sex development without cystinuria 18 Cases 46,XX ovotesticular disorder of 2.5 BP 228402 2q23.1 microdeletion syndrome 2138 sex development 2q23.1 microduplication 2 Cases 46,XX testicular disorder of sex 2.5 P 313947 393 syndrome development 46,XY disorder of sex 23 Cases 15 Cases 1617 2q24 microdeletion syndrome 90796 development due to isolated 2q32q33 microdeletion 25 Cases 17,20-lyase deficiency 251019 46,XY disorder of sex 2 syndrome 115 443087 development due to testicular Families 1001 2q37 microdeletion syndrome Cases 17,20-desmolase deficiency 46,XY disorder of sex 3-hydroxy-3-methylglutaryl-CoA 9 Cases development-adrenal 9 Cases 35701 168558 synthase deficiency insufficiency due to CYP11A1 13 Cases deficiency 939 3-hydroxyisobutyric aciduria 46,XY gonadal dysgenesis-motor 5 Cases 3-methylcrotonyl-CoA 2.65 BP* 168563 and sensory neuropathy 6 carboxylase deficiency syndrome 3-methylglutaconic aciduria type 20 Cases 50.0 BP* 67046 8 47,XYY syndrome 1 3-methylglutaconic aciduria type 22 Cases 1.0 BP* 445038 96263 48,XXXY syndrome 7 3-methylglutaconic aciduria type 9 Cases 1.9 BP* 505208 10 48,XXYY syndrome 8 3-methylglutaconic aciduria type 4 Cases 10 Cases 505216 99329 48,XYYY syndrome 9 3-phosphoglycerate 0.55 BP* 15 Cases 96264 49,XXXXY syndrome 79351 dehydrogenase deficiency, 2 Cases infantile/juvenile form 261534 49,XXXYY syndrome 3-phosphoserine phosphatase 8 Cases 79350 deficiency, infantile/juvenile 8 Cases 99330 49,XYYYY syndrome form 200 25 Cases 7 3C syndrome 289494 4H leukodystrophy Cases 200 2616 3M syndrome Cases 14 Cases