ZFIN Human Disease: familial hypercholesterolemia

OBO ID: DOID:13810

Term Name:	familial hypercholesterolemia		Search Ontology:
Synonyms:	familial hyperbetalipoproteinaemia familial hypercholesteremia Fredrickson type IIa hyperlipoproteinemia Fredrickson type IIa lipidaemia hyperbetalipoproteinemia type II hyperlipidemia
Definition:	A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease. http://en.wikipedia.org/wiki/Familial_hypercholesterolemia
References:	GARD:10416 ICD10CM:E78.01 MESH:D006938 NCI:C34704 OMIM:143890 ORDO:406 SNOMEDCT_US_2023_03_01:190772003 UMLS_CUI:C0020445
Ontology:	Human Disease ( DOID:13810 )

Relationships

is a type of:	familial hyperlipidemia familial hyperlipidemia Show first 5 Terms
has subtype:	autosomal recessive hypercholesterolemia autosomal recessive hypercholesterolemia Show first 5 Terms

OTHER familial hypercholesterolemia PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
EPHX2	ephx2	{Hypercholesterolemia, familial, due to LDLR defect, modifier of}	143890
GHR	ghrb ghra	{Hypercholesterolemia, familial, modifier of}	143890
LDLR	ldlra ldlrb	Hypercholesterolemia, familial, 1	143890
		LDL cholesterol level QTL2	143890
PPP1R17	ppp1r17	{Hypercholesterolemia, susceptibility to}	143890
APOA2		{Hypercholesterolemia, familial, modifier of}

ZEBRAFISH MODELS

Fish	Conditions	Citations
AB	high cholesterol	Yadav et al., 2018
ldlra^sd52/sd52	high cholesterol	Liu et al., 2017
sd16Tg	cholesterol content	Chen et al., 2015
ym104Tg	low fat	Hsu et al., 2017

PHENOTYPE No data available

CITATIONS (5)