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GENATLAS PHENOTYPE
last update : 31/08/2006
Symbol KTWS1
Location 5q14.1
Name Klippel-Trenaunay-Weber syndrome
Other name(s)
  • angioosteohypertrophy syndrome . Klippel-Trenaunay syndrome
  • Corresponding gene AGGF1
    Other symbol(s) KTS
    Main clinical features
  • large cutaneous hemangiomata and hypertrophy of the related bones and soft tissues . asymetric overgrowth syndrome, characterizedy vascular malformationsof the capillary, venous and lymphatic systems and partial overgrowth usually of the lower limbs
  • Genetic determination autosomal dominant
    Function/system disorder connective tissue
    Type disease
    Gene product
    Name vasculogenesis gene on 5q
    Remark(s) may be due to a somatic mutation for a factor critical to vasculogenesis and angiogenesis in embryonic development