ArticleCirculation. Genomic and precision medicine2025
Hereditary Hemorrhagic Telangiectasia Prevalence Estimates Calculated From GnomAD Allele Frequencies of Predicted Pathogenic Variants in
Article in Circulation. Genomic and precision medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
8 citing papers in PubMed.
- Patients with hereditary hemorrhagic telangiectasia have significantly reduced overall survival-And likely by a greater magnitude than we realize.Journal of internal medicine · 2026Article
- Ruptured pulmonary arteriovenous malformation causing hemothorax during pregnancy: a case report.Journal of cardiothoracic surgery · 2026Article
- A microphysiological system HHT-on-a-chip platform recapitulates patient vascular lesions.Nature communications · 2026Article
- Targeting stiffness-dependent YAP/TAZ restores angiogenesis dynamics impaired by ALK1 knockout in silico.PLoS computational biology · 2026Article
- An angiopoietin-2 vaccine improves arteriovenous malformation pathology in hereditary hemorrhagic telangiectasia mice.Blood vessels, thrombosis & hemostasis · 2026Article
- Modeling Somatic Second-Hit Mutations in Novel Mouse Models of Hereditary Hemorrhagic Telangiectasia.bioRxiv : the preprint server for biology · 2026Article
- Epistaxis Prevention, Treatment, and Future Perspectives for Hereditary Hemorrhagic Telangiectasia.Journal of clinical medicine · 2025Review
- An angiopoietin-2 vaccine improves arteriovenous malformation pathology in hereditary hemorrhagic telangiectasia mice.bioRxiv : the preprint server for biology · 2025Article
Corrections and comments
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Authors and funding
5 authors.
Funding
Abstract
backgroundHereditary hemorrhagic telangiectasia (HHT) is a near-fully penetrant autosomal dominant disorder characterized by nosebleeds, anemia, and arteriovenous malformations. The great majority of HHT cases are caused by heterozygous loss-of-function mutations in
methodsTo estimate the true prevalence of HHT, we summed allele frequencies of predicted pathogenic variants in
resultsWe calculated an HHT prevalence of between 2.1 in 5000 and 11.9 in 5000, or 2 to 12× higher than current estimates. Application of our machine learning-based classification method revealed missense variants as the greatest contributor to pathogenic allele frequency and similar HHT prevalence across genetic ancestries.
conclusionsOur results support the notion that HHT is underdiagnosed and that HHT prevalence may be above the threshold of a rare disease.
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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.