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Telangiectasia, Hereditary Hemorrhagic MeSH Descriptor Data 2022


MeSH Heading
Telangiectasia, Hereditary Hemorrhagic
Tree Number(s)
C14.907.454.900
C14.907.823.780
C15.378.463.515.900
C16.131.240.850.968
Unique ID
D013683
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D013683
Scope Note
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.
Entry Term(s)
Hereditary Hemorrhagic Telangiectasia
Osler's Disease
Osler-Rendu Disease
Osler-Rendu-Weber Disease
Osler-Weber-Rendu Syndrome
Rendu-Osler-Weber Disease
Telangiectasia, Hereditary Hemorrhagic, Type 1
Telangiectasia, Hereditary Hemorrhagic, of Rendu, Osler, and Weber
Weber-Osler Disease
Weber-Osler Syndrome
NLM Classification #
WG 700
Public MeSH Note
1968; for OSLER-RENDU DISEASE see ANGIOMATOSIS 1963-1967
History Note
1968(1966); for OSLER-RENDU DISEASE use ANGIOMATOSIS 1963-1967
Date Established
1968/01/01
Date of Entry
1999/01/01
Revision Date
2019/05/17
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