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DeCS
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Descriptor English:
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Telangiectasia, Hereditary Hemorrhagic
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Descriptor Spanish:
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telangiectasia hemorrágica hereditaria
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Descriptor Portuguese:
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Telangiectasia Hemorrágica Hereditária
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Synonyms English:
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Disease, Osler's
Hemorrhagic Telangiectasia, Hereditary
Hereditary Hemorrhagic Telangiectasia
Osler Disease
Osler Rendu Disease
Osler Rendu Weber Disease
Osler Weber Rendu Syndrome
Osler's Disease
Osler-Rendu Disease
Osler-Rendu-Weber Disease
Osler-Weber-Rendu Syndrome
Rendu Osler Weber
Rendu-Osler-Weber
Telangiectasia, Hereditary Hemorrhagic, Type 1
Telangiectasia, Hereditary Hemorrhagic, of Rendu, Osler, and Weber
Weber Osler
Weber-Osler
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Tree Number:
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C14.907.454.900
C14.907.823.780
C15.378.463.515.900
C16.131.240.850.968
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Definition English:
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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. |
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History Note English:
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1968(1966); for OSLER-RENDU DISEASE use ANGIOMATOSIS 1963-1967
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Allowable Qualifiers English:
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Record Number:
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14061
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Unique Identifier:
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D013683
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Occurrence in VHL:
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Similar:
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DeCS
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