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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