Klippel-Trenaunay-Weber Syndrome D007715

Diseases [C] » Cardiovascular Diseases [C14] » Vascular Diseases » Angiomatosis » Klippel-Trenaunay-Weber Syndrome

Description

A congenital disorder that is characterized by a triad of capillary malformations (HEMANGIOMA), venous malformations (ARTERIOVENOUS FISTULA), and soft tissue or bony hypertrophy of the limb. This syndrome is caused by mutations in the VG5Q gene which encodes a strong angiogenesis stimulator.   MeSH

Organization Involved with Phase 1 Indications (2)

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UMLS Data


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