Conditions / Genetic
congenital generalized lipodystrophy type 1
info · Genetic · ICD-10: E88.1
A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of AGPAT2 on chromosome 9q34.3.
Signs and symptoms
- Hepatomegaly
- Decreased serum leptin
- Acanthosis nigricans
- Diabetes mellitus
- Hepatic steatosis
- Labial hypertrophy
- Large hands
- Cirrhosis
- Reduced intrathoracic adipose tissue
- Insulin-resistant diabetes mellitus at puberty
Also known as: Berardinelli-Seip Congenital Lipodystrophy, Type 1; Brunzell syndrome AGPAT2-related