Conditions / Genetic
familial partial lipodystrophy type 5
info · Genetic
A familial partial lipodystrophy characterized by autosomal recessive inheritance that has_material_basis_in mutation in the CIDEC gene on chromosome 3p25.
Signs and symptoms
- Hepatic steatosis
- Hypertriglyceridemia
- Elevated circulating C-peptide concentration
- Decreased adiponectin level
- Hepatomegaly
- Decreased serum leptin
- Irregular menstruation
- Hypertension
- Lipodystrophy
- Acanthosis nigricans
Also known as: CIDEC-related FPLD; FPLD5; familial partial lipodystrophy associated with CIDEC mutations