Familial partial lipodystrophy

Also known as: Dunnigan syndrome; Kobberling–Dunnigan syndrome

Loss of limb and gluteal fat with central fat accumulation and insulin resistance.

Medical specialty: Endocrinology
Subspecialty: Endocrinology / Metabolic disorders
Sex & age distribution: Male: affected; Female: affected, more severe metabolic disease; Children: yes, onset at puberty
Gene(s) involved: AKT2, CIDEC, LIPE, LMNA, PLIN1, PPARG

Etiology & mechanism

LMNA and other adipocyte gene variants.

Gene(s) involved (6)

AKT2CIDECLIPELMNAPLIN1PPARG

Symptoms & signs (8)

diabetesfat accumulation in face and neckfatty livergluteal fat losshypertriglyceridemiainsulin resistancelimb fat losspancreatitis

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.