Congenital generalized lipodystrophy

Also known as: Berardinelli–Seip syndrome

Near-total lack of body fat with severe insulin resistance.

Medical specialty: Endocrinology
Subspecialty: Endocrinology / Metabolic disorders
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, infancy
Gene(s) involved: AGPAT2, BSCL2, CAV1, PTRF

Etiology & mechanism

Defective adipocyte differentiation and lipid droplet formation.

Gene(s) involved (4)

AGPAT2BSCL2CAV1PTRF

Symptoms & signs (8)

acanthosis nigricansacromegaloid featuresfatty livergeneralized fat losshirsutismhypertriglyceridemiamuscular appearancesevere insulin resistance

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