Conditions / Genetic
familial partial lipodystrophy type 6
info · Genetic
A familial partial lipodystrophy characterized by autosomal recessive inheritance that has_material_basis_in mutation in the LIPE gene on chromosome 19q13.
Signs and symptoms
- Skeletal muscle atrophy
- Pes cavus
- Hypopigmentation of the skin
- Hypertension
- Lipodystrophy
- Abdominal obesity
- Diabetes mellitus
- Insulin resistance
- Abnormal circulating lipid concentration
- Hepatic steatosis
Also known as: FPLD6; LIPE-related FPLD; LIPE-related familial partial lipodystrophy; familial partial lipodystrophy associated with LIPE mutations