Lipodystrophy, Familial Partial, Type 3 (FPLD3)

Lipodystrophy, Familial Partial, Type 3(来自ICD-11)
别称:
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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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
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参考文献
MALACARDS
AD
Adult
<1/1000000
15
171
13

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