ZFIN Human Disease: familial lipoprotein lipase deficiency

OBO ID: DOID:14118

Term Name:	familial lipoprotein lipase deficiency		Search Ontology:
Synonyms:	familial hyperlipoproteinemia type I familial LPL deficiency Fredrickson type I hyperlipoproteinemia Fredrickson type I lipaemia hypercholesterinaemic xanthomatosis hyperchylomicronemia mixed hyperglyceridemia
Definition:	A familial hyperlipemia characterized by a deficiency of the enzyme lipoprotein lipase and the subsequent build up of chylomicrons and increased plasma concentration of triglycerides. (2)
References:	GARD:12241 ICD10CM:E78.3 ICD9CM:272.3 MESH:D008072 NCI:C84771 OMIM:238600 ORDO:309015 SNOMEDCT_US_2023_03_01:34171006 UMLS_CUI:C0023817
Ontology:	Human Disease ( DOID:14118 )

Relationships

is a type of:	autosomal recessive disease familial chylomicronemia syndrome autosomal recessive disease familial chylomicronemia syndrome Show first 5 Terms

OTHER familial lipoprotein lipase deficiency PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
LPL	lplb lpla	Lipoprotein lipase deficiency	238600
		[High density lipoprotein cholesterol level QTL 11]	238600

ZEBRAFISH MODELS

Fish	Conditions	Citations
apoc2^sd38/sd38 (AB)	standard conditions	Liu et al., 2017

PHENOTYPE No data available

CITATIONS (1)