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GENATLAS PHENOTYPE

last update : 12-11-2010

Symbol	BSCL3
Location	7q31.2
Name	Berardinelli-Seip congenital generalized lipodystrophy type
Other name(s)	congenital generalized lipodystrophy 3
Corresponding gene	CAV1
Other symbol(s)	CGL3
Main clinical features	characterized by a near absence of adipose tissue from birth or early infancy and severe insulin resistance associated with acanthosis nigrica, hyperandrogenism, muscular hypertrophy, hepatomegaly, diabetes mellitus and hypertriglyceridemia, intellectual impairment and increased risk of premature death
Genetic determination	autosomal recessive
Function/system disorder	metabolism/lipoprotein-lipid
Type	disease

Remark(s)