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Telangiectasia, Hereditary Hemorrhagic

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Definition: 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.      Other names Osler-Rendu Disease; Telangiectasia, Hereditary Hemorrhagic, of Rendu, ; Telangiectasia, Hereditary Hemorrhagic, Type 1; Osler-Weber-Rendu Syndrome; Osler-Rendu-Weber Disease; Osler Weber Rendu Syndrome; Osler Rendu Weber Disease; Osler Rendu Disease; Hereditary Hemorrhagic Telangiectasia; Hemorrhagic Telangiectasia, Hereditary
 
SubstanceCAS Registry & nameCategoriesSource
Osler-rendu-weber syndrome 3  0   *Telangiectasia, Hereditary Hemorrhagic.
Osler-rendu-weber syndrome 2  0   *Telangiectasia, Hereditary Hemorrhagic.
ENG protein, human  0   *Receptors, Cell Surface *Antigens, CD Telangiectasia, Hereditary Hemorrhagic. J Biol Chem 1990;265(15):8361

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012
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