ArticleInternational journal of environmental research and public health2018
The Occurrence of 275 Rare Diseases and 47 Rare Disease Groups in Italy. Results from the National Registry of Rare Diseases.
Article in International journal of environmental research and public health, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
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Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 24 citations in OpenAlex.
- Prevalence of Huntington Disease in Italy: a systematic review and meta-analysis.Acta bio-medica : Atenei Parmensis · 2020Pooled it
- Launching a multi-level data strategy for rare eye diseases: a methodological case study from national to European scale.Orphanet journal of rare diseases · 2026Article
- Mapping Rare Disease Registries in Brazil: Situational Analysis and Proposal for National Unification.Journal of medical systems · 2026Article
- Combining federated learning and travelling model boosts performance and opens opportunities for digital health equity.NPJ digital medicine · 2026Article
- Article
- Awareness and care practices for rare neurologic diseases among senior neurologists: A global survey.Journal of the neurological sciences · 2025Article
- Incidence and risk factors for insulinoma diagnosed in dogs under primary veterinary care in the UK.Scientific reports · 2025Article
- The Birth Prevalence of Congenital Hyperinsulinism: A Narrative Review of the Epidemiology of a Rare Disease.Hormone research in paediatrics · 2025Review
- Incidence and risk factors for phaeochromocytoma diagnosis in dogs under primary veterinary care in the UK.PloS one · 2025Article
- HarmonyTM: multi-center data harmonization applied to distributed learning for Parkinson's disease classification.Journal of medical imaging (Bellingham, Wash.) · 2024Article
- A multi-center distributed learning approach for Parkinson's disease classification using the traveling model paradigm.Frontiers in artificial intelligence · 2024Article
- Frequency-based rare diagnoses as a novel and accessible approach for studying rare diseases in large datasets: a cross-sectional study.BMC medical research methodology · 2023Article
- Digital health solution for monitoring and surveillance of Amyotrophic Lateral Sclerosis in Brazil.Frontiers in public health · 2023Article
- An analysis of the effects of limited training data in distributed learning scenarios for brain age prediction.Journal of the American Medical Informatics Association : JAMIA · 2022Article
- 10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France.Orphanet journal of rare diseases · 2021Article
- Multifactorial Rare Diseases: Can Uncertainty Analysis Bring Added Value to the Search for Risk Factors and Etiopathogenesis?Medicina (Kaunas, Lithuania) · 2021Review
- Awareness of rare and genetic neurological diseases among italian neurologist. A national survey.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2020Article
- Primary Sclerosing Cholangitis: Burden of Disease and Mortality Using Data from the National Rare Diseases Registry in Italy.International journal of environmental research and public health · 2020Article
- Red Flags for early referral of people with symptoms suggestive of narcolepsy: a report from a national multidisciplinary panel.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2019Review
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Knowledge of rare diseases (RD) is often scattered among many data collections and registries of patient cohorts. Therefore, assessing the burden of RD in the general population, developing appropriate policies and planning services for the care of RD patients is difficult. This study aimed at providing a systematic picture of RD occurrence in a population as big as 60 million. Data of diagnoses were certified and collected by a network of 247 specialized centres covering the whole Italian territory. Data received (about 200,000 records) were validated according to formal criteria and, where necessary, corrected by the data sources. Data of age at onset and sex distribution are given for about 400 diseases. Incidence and/or birth prevalence are given for 275 diseases and 47 disease groups, which, altogether, comprise a substantial part of the known rare diseases. Data quality, internal consistency, and external validity of the database have also been assessed and ways to limit the impact of some discrepancies were devised. The information provided by RNMR, cutting across such a wide range of RD, represents a unique coherent basis allowing the prioritization of relevant public health measures and research activities.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.