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congenital generalized lipodystrophy
Disease Summary
Associated Targets (9)
Tbio
4
Tclin
3
Tchem
2
GARD Rare
Mondo Description An extremely rare autosomal recessive condition, characterized by an extreme scarcity of fat in the subcutaneous tissues.
Disease Ontology Description A lipodystrophy that is characterized by extreme scarcity of subcutaneous fat, muscular hypertrophy, fatty liver, hypertriglyceremia and metabolic complications including insulin resistance and has_material_basis_in mutation in the AGPAT2, BSCL2, CAV1 or PTRF genes.