Human genes for familial partial lipodystrophy type 4
Familial partial lipodystrophy type 4 [DOID:0070205]
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.
Synonyms: familial partial lipodystrophy type 4, DOID:0070205, hereditary partial lipodystrophy type 4, familial partial lipodystrophy associated with PLIN1 mutations, FPLD4 ...