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Keyword Congenital generalized lipodystrophy

UniProtKB (4) rdf/xml obo
DefinitionProtein 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
CategoryDisease
GraphicalCongenital generalized lipodystrophyDisease