familial partial lipodystrophy

Introduction

heterogeneous group of genetic disorders

Genetics

• associated with defects in PPARG
• type 2 (autosomal dominant) associated with defects in LMNA

Clinical manifestations

• heterogeneous
• marked loss of subcutaneous fat from the extremities & trunk
• excess fat deposition in the head & neck
• susceptibility to insulin resistance, diabetes mellitus & dyslipidemia

More general terms

• lipodystrophy; lipoatrophy
• lipid metabolism, inborn error; lipid storage disease; lipidosis

Database

• OMIM: https://mirror.omim.org/entry/604367
• OMIM: https://mirror.omim.org/entry/151660