Telangiectasia, Hereditary Hemorrhagic
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.
Year introduced: 1968(1966)
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Subheadings:
Tree Number(s): C14.907.454.900, C14.907.823.780, C15.378.463.515.900, C16.131.240.850.968
MeSH Unique ID: D013683
Entry Terms:
- Hemorrhagic Telangiectasia, Hereditary
- Weber-Osler Disease
- Weber Osler Disease
- Telangiectasia, Hereditary Hemorrhagic, of Rendu, Osler, and Weber
- Rendu-Osler-Weber Disease
- Rendu Osler Weber Disease
- Osler-Rendu-Weber Disease
- Osler Rendu Weber Disease
- Hereditary Hemorrhagic Telangiectasia
- Osler's Disease
- Osler Disease
- Weber-Osler Syndrome
- Weber Osler Syndrome
- Osler-Rendu Disease
- Osler Rendu Disease
- Osler-Weber-Rendu Syndrome
- Osler Weber Rendu Syndrome
- Telangiectasia, Hereditary Hemorrhagic, Type 1