Conditions / Genetic
familial partial lipodystrophy type 4
info · Genetic
A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous adipose tissue primarily from the lower limbs, insulin-resistant diabetes mellitus, hypertriglyceridemia, and hypertension that has_material_basis_in mutat
A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous adipose tissue primarily from the lower limbs, insulin-resistant diabetes mellitus, hypertriglyceridemia, and hypertension that has_material_basis_in mutation in the PLIN1 gene on chromosome 15q26.
Signs and symptoms
- Hypertriglyceridemia
- Lipoatrophy
- Insulin resistance
- Lipodystrophy
- Acanthosis nigricans
- Hepatic steatosis
- Skeletal muscle hypertrophy
- Insulin-resistant diabetes mellitus
- Stroke
- Hypertension
Also known as: FPLD4; PLIN1-related FPLD; PLIN1-related familial partial lipodystrophy; familial partial lipodystrophy associated with PLIN1 mutations