GTR Home > Conditions/Phenotypes > Lipodystrophy, congenital generalized, type 3

Summary

Congenital generalized lipodystrophy, also known as Berardinelli-Seip syndrome, is an autosomal recessive disorder characterized by marked paucity of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis, and early onset of diabetes (Garg, 2004). For a general description and a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 (608594). See also partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome (LCCNS; 606721), which is associated with heterozygous mutation in the CAV1 gene. [from OMIM]

Available tests

21 tests are in the database for this condition.

Genes See tests for all associated and related genes

  • Also known as: BSCL3, CGL3, LCCNS, MSTP085, PPH3, VIP21, CAV1
    Summary: caveolin 1

Clinical features

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