Congenital generalized lipodystrophy type 1

MONDO:0012071

Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the AGPAT2 gene.

Also known as: AGPAT2 congenital generalised lipodystrophy (disease), AGPAT2 congenital generalized lipodystrophy (disease), BSCL1, Berardinelli-Seip congenital lipodystrophy, type 1, CGL1, congenital generalised lipodystrophy (disease) caused by mutation in AGPAT2, congenital generalized lipodystrophy (disease) caused by mutation in AGPAT2, congenital generalized lipodystrophy type 1

3 clinical trials for this condition and its sub-types.

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Broader categories

Disease (680) Metabolic disease (233) Hereditary disease (176) Skin disorder (132) Inborn errors of metabolism (45) Lipodystrophy (27) Human disease (14) Generalized lipodystrophy (8) Hereditary skin disorder (6) Disease of genetic or genomic mechanism (2)

Trials to join now! 2 Completed 1

Rare fat disorder gene hunt: just 2 patients could unlock answers

Knowledge-focused Completed

This study looked for a new gene that causes hereditary lipodystrophy, a rare disease where people lose body fat and often develop diabetes and heart problems. Researchers studied DNA and cells from 2 patients who had the disease but no known genetic cause. The goal was to find t…

Phase: NA • Sponsor: University Hospital, Bordeaux • Aim: Knowledge-focused

Last updated Jun 27, 2026 13:00 UTC

Congenital generalized lipodystrophy type 1

Broader categories

Rare fat disorder gene hunt: just 2 patients could unlock answers