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congenital generalized lipodystrophy type 3

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the CAV1 gene.
Uniprot Description An autosomal recessive disorder characterized by a near complete absence of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes.
Mondo Term and Equivalent IDs
MONDO:0012923:  congenital generalized lipodystrophy type 3
GARD:0013389: 
MESH:C567282: 
UMLS:C2675861: