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-Rendu-Weber Disease; Osler-Weber-Rendu Syndrome; Hemorrhagic Telangiectasia, Hereditary; Osler Rendu Disease; Osler Rendu Weber Disease; Osler Weber Rendu Syndrome; Osler-Rendu Disease

Cardiovascular Diseases: 22097
- Vascular Diseases: 7785
  - Telangiectasis: 1006
    - Hereditary Hemorrhagic Telangiectasia: 224
  - Hemostatic Disorders: 106
    - Hereditary Hemorrhagic Telangiectasia: 224
Hemic and Lymphatic Diseases
- Hematologic Diseases: 1489
  - Hemorrhagic Disorders: 432
    - Hemostatic Disorders: 106
      - Hereditary Hemorrhagic Telangiectasia: 224
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 461
- Congenital Abnormalities: 10178
  - Cardiovascular Abnormalities: 183
    - Vascular Malformations: 529
      - Hereditary Hemorrhagic Telangiectasia: 224

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Disease

Drug/Important Bio-Agent (IBA)