Berardinelli-Seip Congenital Lipodystrophy

**Semantic type:** Disease or Syndrome

**Definition:** A genetic disorder caused by mutations in the AGPAT2 and BSCL2 genes. It is characterized by lipoatrophy in the trunk, face, and extremities, hypertriglyceridemia, muscle hypertrophy, cardiomyopathy and hepatomegaly. Patients develop insulin resistance, leading to diabetes mellitus.

**Synonyms:** - Berardinelli Lipodystrophy Syndrome - Berardinelli Seip Syndrome - Congenital Generalized Lipodystrophy - Congenital Generalized Lipodystrophy - Lawrence-Seip Syndrome - Seip-Bernardinelli Syndrome - Total Lipodystrophy