ZFIN Human Disease: familial partial lipodystrophy type 4

OBO ID: DOID:0070205

Term Name:	familial partial lipodystrophy type 4		Search Ontology:
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 )

Relationships

is a type of:	autosomal dominant disease familial partial lipodystrophy autosomal dominant disease familial partial lipodystrophy Show first 5 Terms

OTHER familial partial lipodystrophy type 4 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
PLIN1	plin1	Lipodystrophy, familial partial, type 4	613877

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None