Hereditary Hemorrhagic Telangiectasia

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.

Also Known As:

Telangiectasia, Hereditary Hemorrhagic; Osler's Disease; Osler-Rendu-Weber Disease; Osler-Weber-Rendu Syndrome; Telangiectasia, Hereditary Hemorrhagic, Type 1; Telangiectasia, Hereditary Hemorrhagic, of Rendu, Osler, and Weber; Hemorrhagic Telangiectasia, Hereditary; Osler Disease; Osler Rendu Disease; Osler Rendu Weber Disease; Osler Weber Rendu Syndrome; Rendu Osler Weber Disease; Weber Osler Disease; Weber Osler Syndrome; Osler-Rendu Disease; Rendu-Osler-Weber Disease; Weber-Osler Disease; Weber-Osler Syndrome

Cardiovascular Diseases: 94258
- Vascular Diseases: 15340
  - Telangiectasis: 2073
    - Hereditary Hemorrhagic Telangiectasia: 817
  - Hemostatic Disorders: 256
    - Hereditary Hemorrhagic Telangiectasia: 817
Hemic and Lymphatic Diseases: 7
- Hematologic Diseases: 3445
  - Hemorrhagic Disorders: 706
    - Hemostatic Disorders: 256
      - Hereditary Hemorrhagic Telangiectasia: 817
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Congenital Abnormalities: 26404
  - Cardiovascular Abnormalities: 457
    - Vascular Malformations: 1473
      - Hereditary Hemorrhagic Telangiectasia: 817

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