Mondo Description Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the CAVIN1 gene.

Uniprot Description A disorder characterized by the association of congenital generalized lipodystrophy with muscular dystrophy and cardiac anomalies. Congenital generalized lipodystrophy is characterized by a near complete absence of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes.