Diseases

Hereditary Hemorrhagic Telangiectasia

An autosomal dominant vascular anomaly characterized by telangiectases of the skin and mucous membranes and by recurrent gastrointestinal bleeding. This disorder is caused by mutations of a gene (on chromosome 9q3) which encodes endoglin, a membrane glycoprotein that binds TRANSFORMING GROWTH FACTOR BETA.

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

An autosomal dominant vascular anomaly characterized by telangiectases of the skin and mucous membranes and by recurrent gastrointestinal bleeding. This disorder is caused by mutations of a gene (on chromosome 9q3) which encodes endoglin, a membrane glycoprotein that binds TRANSFORMING GROWTH FACTOR BETA.

MeSH Record

Classification

Broader headings

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MeSH Record

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MeSH Record

Synonyms

18 entry terms
  • Osler's Disease
  • Osler-Rendu Disease
  • Osler-Rendu-Weber Disease
  • Osler-Weber-Rendu Syndrome
  • Rendu-Osler-Weber Disease
  • Telangiectasia, Hereditary Hemorrhagic
  • Telangiectasia, Hereditary Hemorrhagic, of Rendu, Osler, and Weber
  • Weber-Osler Disease
  • Weber-Osler Syndrome
  • Hemorrhagic Telangiectasia, Hereditary
  • Osler Disease
  • Osler Rendu Disease
  • Osler Rendu Weber Disease
  • Osler Weber Rendu Syndrome
  • Rendu Osler Weber Disease
  • Weber Osler Disease
  • Weber Osler Syndrome
  • Telangiectasia, Hereditary Hemorrhagic, Type 1

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Record

History Note

1968(1966); for OSLER-RENDU DISEASE use ANGIOMATOSIS 1963-1967

MeSH Hierarchy

Tree Numbers

  1. C14w.907w.454.900w
  2. C14w.907w.823w.780w
  3. C15.378w.463w.515.900w
  4. C16w.131w.240.850w.968w

MeSH Record

NLM Classification

WG 700

AMA Style

References

  1. National Library of Medicine. Hereditary Hemorrhagic Telangiectasia. Medical Subject Headings (MeSH). 2026. Unique ID D013683. http://id.nlm.nih.gov/mesh/2026/D013683
  2. Hereditary Hemorrhagic Telangiectasia. In: Wikipedia. https://en.wikipedia.org/wiki/Hereditary_hemorrhagic_telangiectasia
  3. Hereditary Hemorrhagic Telangiectasia. In: Wikidata. https://www.wikidata.org/wiki/Q776881