familial partial lipodystrophy type 4

Summary

DOID:0070205 - familial partial lipodystrophy type 4

Disease Ontology 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.

Synonyms: familial partial lipodystrophy associated with PLIN1 mutations, FPLD4, PLIN1-related familial partial lipodystrophy, PLIN1-related FPLD

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: plin1

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), familial partial lipodystrophy (is_a)