Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database
Open accessAbstract
Rare diseases, an emerging global public health priority, require an evidence-based estimate of the global point prevalence to inform public policy. We used the publicly available epidemiological data in the Orphanet database to calculate such a prevalence estimate. Overall, Orphanet contains information on 6172 unique rare diseases; 71.9% of which are genetic and 69.9% which are exclusively pediatric onset. Global point prevalence was calculated using rare disease prevalence data for predefined geographic regions from the ‘Orphanet Epidemiological file’ ( http://www.orphadata.org/cgi-bin/epidemio.html ). Of the 5304 diseases defined by point prevalence, 84.5% of those analysed have a point prevalence of <1/1 000 000. However 77.3–80.7% of the population burden of rare diseases is attributable to the 4.2% ( n = 149) diseases in the most common prevalence range (1–5 per 10 000). Consequently national definitions of ‘Rare Diseases’ (ranging from prevalence of 5 to 80 per 100 000) represent a variable number of rare disease patients despite sharing the majority of rare disease in their scope. Our analysis yields a conservative, evidence-based estimate for the population prevalence of rare diseases of 3.5–5.9%, which equates to 263–446 million persons affected globally at any point in time. This figure is derived from data from 67.6% of the prevalent rare diseases; using the European definition of 5 per 10 000; and excluding rare cancers, infectious diseases, and poisonings. Future registry research and the implementation of rare disease codification in healthcare systems will further refine the estimates.
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This study involved 302 rare diseases selected from a pool of over 7000 across 33 types in the Orphanet Database.
“This study involved 302 rare diseases selected from a pool of over 7000 across 33 types in the Orphanet Database, a comprehensive rare disease database co-funded by the European Commission42.”
From Enhancing diagnostic capability with multi-agents conversational large language models (2025) · cites this paper as [42]
Parents and caregivers of children with rare genetic diseases face a lack of knowledge and scarcity of expertise among health care professionals.
“The low prevalence of these conditions means there is often a lack of knowledge and scarcity of expertise among health care professionals [4,5].”
From Social Media Use Among Parents and Caregivers of Children With Rare Genetic Diseases: Scoping Review (2025) · cites this paper as [4]
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- Authors
- Nguengang Wakap, S., Lambert, D. M., Olry, A., Rodwell, C., Gueydan, C., Lanneau, V., Murphy, D., Le Cam, Y., & Rath, A.
- Affiliations
- Mater Misericordiae University Hospital (IE)
- Inserm (FR)
- Venue
- European Journal of Human Genetics
- Published
- 2019-09-16
- Volume
- 28
- Issue
- 2
- Pages
- 165-173
- ISSN
- 1018-4813 (ISSN-L)
- 1476-5438
- PMC
- PMC6974615
- OpenAlex
- W2973267506
- Cited by
- 1,752
- References
- 20
- Citations by year
- 2026: 256 · 2025: 340 · 2024: 357 · 2023: 283 · 2022: 228 · 2021: 204 · 2020: 78 · 2019: 4
- FWCI
- 77.59
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Locations
- European Journal of Human Genetics (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Lenus, The Irish Health Repository (Dr Steevens Hospital Library) (submittedVersion, cc-by)
- HAL (submittedVersion, cc-by)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
- Health Sciences › Health Professions › Health Information Management › Global Health and Epidemiology
- Keywords
- rare diseases, point prevalence, global prevalence estimates, Orphanet, genetic disorders, rare disease definition, population burden, rare disease registry
- MeSH terms
- Humans, Global Health, Prevalence, Databases, Factual, Genetic Diseases, Inborn, Rare Diseases
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