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GENATLAS PHENOTYPE
last update : 14-01-2011
Symbol BSCL2
Location 11q12.3
Name Berardinelli-Seip congenital generalized lipodystrophy type 2
Other name(s)
  • lipodystrophy, total, and acromegaloid gigantism lipoatrophic diabetes, congenital
  • Brunzell syndrome
  • congenital generalized lipodystrophy 2
    • Corresponding gene BSCL2
    Other symbol(s) CGL2
    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
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    insertion-deletion   abnormal protein/loss of function 669insA mutation mostly frequent
    Remark(s) earlier onset of diabetes, higher insulin levels and more insulin resistant as BSCL1 patients