Visualize Submit Comment
Metadata
ID DOID:0070205
Name familial partial lipodystrophy type 4
Definition 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.
https://www.ncbi.nlm.nih.gov/pubmed/21345103
Xrefs

GARD:12601

OMIM:613877

ORDO:280356

Subsets

DO_rare_slim

Synonyms

familial partial lipodystrophy associated with PLIN1 mutations [EXACT]

FPLD4 [EXACT]

PLIN1-related familial partial lipodystrophy [EXACT]

PLIN1-related FPLD [EXACT]

Parent Relationships

is_a autosomal dominant disease

is_a familial partial lipodystrophy

Add an item to the term tracker