Lipodystrophy, Familial Partial, Type 3 (FPLD3)

Alias:

Pparg-Related Familial Partial Lipodystrophy

Fpld3

Familial Partial Lipodystrophy Type 3

Pparg-Related Fpld

Familial Partial Lipodystrophy Associated with Pparg Mutations

Lipodystrophy, Familial Partial, Associated with Pparg Mutations

Familial Partial Lipodystrophy, Type 3

Insulin Resistance, Severe, Digenic

Lipodystrophy, Familial Partial, 3

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Lipodystrophy, Familial Partial, Type 3, also known as pparg-related familial partial lipodystrophy, is related to type 2 diabetes mellitus and lipodystrophy, congenital generalized, type 1. An important gene associated with Lipodystrophy, Familial Partial, Type 3 is PPARG (Peroxisome Proliferator Activated Receptor Gamma), and among its related pathways/superpathways are Glucose / Energy Metabolism and AMPK Enzyme Complex Pathway. Affiliated tissues include skin and skeletal muscle, and related phenotypes are hypertension and lipoatrophy

Related ID：

MALACARDS：LPD021

OMIM：604367

MESH：D052496