ArticleEuropean journal of human genetics : EJHG2020
Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database.
Article in European journal of human genetics : EJHG, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 869 papers, 3 of them syntheses that pooled it.
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Who cites it
869 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- Vogt-Koyanagi-Harada disease frequency around the globe: a systematic review and meta-analysis.Eye (London, England) · 2026Pooled it
- Systematic Review of Patient Focused Drug Development Meeting Reports for Conditions Affecting Neurodevelopment.Therapeutic innovation & regulatory science · 2026Pooled it
- Basket trials in rare diseases: a systematic review of current practices, methodological challenges, and future directions.Orphanet journal of rare diseases · 2025Pooled it
- Feasibility and safety of sailing based rehabilitation for rare skeletal disorders using wearable sensors and patient reported outcomes.Scientific reports · 2025Trial
- Article
- The average individual genome: a survey of nearly 1 million whole-genome sequences.Genome medicine · 2026Article
- Comparison of parental caregivers and associated factors with caregiver burden in rare paediatric diseases.Orphanet journal of rare diseases · 2026Article
- Current translational perspectives for diagnosis and individualized therapy in rare genetic diseases.Communications medicine · 2026Review
- Generalized Pustular Psoriasis: A Cost-of-Illness and Health-Related Quality of Life Study in Italy.PharmacoEconomics - open · 2026Article
- Transition From Child to Adult Care in Paediatric Neurological Disorders in Europe-A Joint EAN-EPNS Survey of Current Practices for Healthcare Providers.European journal of neurology · 2026Article
- Crisis readiness for rare disease populations: learnings and recommendations by the European Reference Networks.The Lancet regional health. Europe · 2026Review
- Detecting pathogenic structural variation in families with undiagnosed rare disease in a national genome project.European journal of human genetics : EJHG · 2026Article
- Artificial Intelligence in Neuromuscular Diseases: Opportunities for a Data-Scarce Field.Neurology and therapy · 2026Review
- Integrative and systematic genomic approaches to improve diagnosis in rare and undiagnosed diseases: results from the RareBoost project.European journal of human genetics : EJHG · 2026Article
- Caring for Rare Genetic Disease: A Vision for the Future.Journal of genetic counseling · 2026Article
- Strengthening Rare Disease Data Readiness: a semantic approach to cross-registry interoperability.Scientific data · 2026Article
- Lived experiences of parents of children with genetic and neurodevelopmental disorders accessing genetic services in Rwanda: barriers and enablers.Journal of community genetics · 2026Article
- Unlocking MENA's potential in rare-disease precision medicine.Orphanet journal of rare diseases · 2026Article
- Cost-efficient long-read trio-barcoded adaptive sequencing improves rare disease diagnosis.Nature communications · 2026Article
- Genomic Strategies in Pediatric Care: Addressing Rare Diseases in Children.Children (Basel, Switzerland) · 2026Review
809 more citing papers are in PubMed but not listed here.
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9 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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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