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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.
推出的年份: 1968(1966)
副标题
树号: C14.907.454.900, C14.907.823.780, C15.378.463.515.900, C16.131.240.850.968
MeSH 单一 ID: D013683
进入的组:
  • Hemorrhagic Telangiectasia, Hereditary
  • Telangiectasia, Hereditary Hemorrhagic, of Rendu, Osler, and Weber
  • Rendu-Osler-Weber Disease
  • Rendu Osler Weber Disease
  • Osler-Weber-Rendu Syndrome
  • Osler Weber Rendu Syndrome
  • Hereditary Hemorrhagic Telangiectasia
  • Osler's Disease
  • Osler Disease
  • Weber-Osler Syndrome
  • Weber Osler Syndrome
  • Osler-Rendu Disease
  • Osler Rendu Disease
  • Weber-Osler Disease
  • Weber Osler Disease
  • Osler-Rendu-Weber Disease
  • Osler Rendu Weber Disease
  • Telangiectasia, Hereditary Hemorrhagic, Type 1

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