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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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Osler-Rendu Disease
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Tree Number:
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C14.907.454.900
C14.907.823.780
C15.378.463.835.900
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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68(66); OSLER-RENDU DISEASE was see under ANGIOMATOSIS 1963-67
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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 SciELO LILACS LIS
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