familial partial lipodystrophy type 3

familial partial lipodystrophy type 3

An autosomal dominant condition (OMIM:604367) characterised by insulin resistance, diabetes, dyslipidaemia and centripetal distribution of fat and prominent musculature.

Molecular pathology
Familial partial lipodystrophy type 3 is caused by defects in PPARG, which encodes a nuclear receptor that is a key regulator of adipocyte differentiation and glucose homeostasis.
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