familial partial lipodystrophy type 4

Term ID

DOID:0070205

Synonyms

• familial partial lipodystrophy associated with PLIN1 mutations
• FPLD4
• PLIN1-related familial partial lipodystrophy
• PLIN1-related FPLD

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

References

• GARD:12601
• OMIM:613877
• ORDO:280356

Ontology

Human Disease   ( DOID:0070205 )