Conditions / Genetic
familial partial lipodystrophy type 2
info · Genetic
A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous fat from the limbs and trunk that has_material_basis_in mutation in the LMNA gene on chromosome 1q21.
Signs and symptoms
- Increased facial adipose tissue
- Myopathy
- Insulin-resistant diabetes mellitus
- Constrictive median neuropathy
- Loss of subcutaneous adipose tissue in limbs
- Skeletal muscle hypertrophy
- Hepatomegaly
- Insulin resistance
- Lipodystrophy
- Splenomegaly
Also known as: FPLD2; familial lipodystrophy of limbs and lower trunk; familial partial lipodystrophy Dunnigan type; reverse partial lipodystrophy