Conditions / Genetic
congenital generalized lipodystrophy type 3
info · Genetic · ICD-10: E88.1
A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of CAV1 on chromosome 7q31.2.
Signs and symptoms
- Hepatic steatosis
- Hypertriglyceridemia
- Hypercholesterolemia
- Short stature
- Hepatomegaly
- Diabetes mellitus
- Generalized lipodystrophy
- Insulin resistance
- Lipodystrophy
- Acanthosis nigricans
Also known as: Berardinelli-Seip congenital lipodystrophy type 3