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congenital generalized lipodystrophy type 1

Disease Summary
Associated Targets (2)
Tchem

1

Tbio

1


GARD Rare
Mondo Description Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the AGPAT2 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:0012071:  congenital generalized lipodystrophy type 1
GARD:0000084: