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中文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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脂肪萎缩，家族性部分型3，也称为pparg相关的家族性部分脂肪萎缩，与2型糖尿病和先天性全身性脂肪萎缩，1型有关。与脂肪萎缩，家族性部分型3有关的重要基因是PPARG（过氧化物酶体增殖激活受体γ），其相关通路/超级通路包括葡萄糖/能量代谢和AMPK酶复合物通路。附属组织包括皮肤和骨骼肌，相关表型为高血压和脂肪萎缩
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