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Keyword - Congenital generalized lipodystrophy (KW-1022)

Definition

Protein which, if defective, causes congenital generalized lipodystrophy, a disorder characterized by near complete absence of adipose tissue from birth. Affected patients manifest insulin resistance, early onset diabetes mellitus, hypertriglyceridemia, hepatic steatosis and acanthosis nigricans.

Synonyms

  • Berardinelli-Seip syndrome
  • Congenital generalized lipoatrophy

Category

Disease

Graphical

DiseaseCongenital generalized lipodystrophy
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