U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Congenital generalized lipodystrophy type 3

Congenital generalized lipodystrophy type 3

Synonyms
BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY, 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). [from OMIM]

Available tests

35 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (35 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

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

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.