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GENATLAS PHENOTYPE
last update : 23/11/2007
Symbol BSCL1
Location 9q34.3
Name Berardinelli-Seip congenital generalized lipodystrophy type 1
Other name(s)
  • congenital generalized lipodystrophy type 1
  • Brunzell syndrome
    • Corresponding gene AGPAT2
    Other symbol(s) CGL1
    Main clinical features
  • congenital generalized lipodystrophy
  • characterized by a near absence of adipose tissue from birth or early infancy and severe insulin resistance, associated with acanthosis nigricans, hyperandrogenism, muscular hypertrophy, hepatomegaly, diabetes mellitus and hypertriglyceridemia
    • Genetic determination autosomal recessive
    Function/system disorder metabolism/lipoprotein-lipid
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function  
    deletion   absent protein 1036-bp deletion including exons 3 and 4
    Remark(s) lower serum leptin levels compared to BSCL2 patients