Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Familial partial lipodystrophy type 3

Familial partial lipodystrophy type 3 is an autosomal dominant disorder caused by mutations of the PPARG gene.

Systematic

Partial lipodystrophy
Familial partial lipodystrophy type 2
Familial partial lipodystrophy type 3
PPARG
Familial partial lipodystrophy type 4
Familial partial lipodystrophy type 5

References:

1.

Agarwal AK et al. (2002) A novel heterozygous mutation in peroxisome proliferator-activated receptor-gamma gene in a patient with familial partial lipodystrophy.

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2.

Hegele RA et al. (2002) PPARG F388L, a transactivation-deficient mutant, in familial partial lipodystrophy.

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3.

Savage DB et al. (2003) Human metabolic syndrome resulting from dominant-negative mutations in the nuclear receptor peroxisome proliferator-activated receptor-gamma.

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4.

Barroso I et al. () Dominant negative mutations in human PPARgamma associated with severe insulin resistance, diabetes mellitus and hypertension.

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5.

OMIM.ORG article

Omim 604367 [^]
6.

Orphanet article

Orphanet ID 79083 [^]
Update: April 29, 2019