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.