Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormality of lipoprotein cholesterol concentration (HP:0010979)

Parent Node:
Abnormal chylomicron concentration (HP:0031887)

Parent Node:
Hyperlipoproteinemia (HP:0010980)

..Starting node
..Increased circulating chylomicron concentration (HP:0012238)

Term ID:

12238

Name:

Increased circulating chylomicron concentration

Synonym:

Hyperchylomicronemia; Increased chylomicrons; Increased circulating chylomicron levels

Definition:

Increased plasma concentrations of chylomicrons, the large lipid droplet (up to 100 mm in diameter) of reprocessed lipid synthesized in epithelial cells of the small intestine and containing triacylglycerols, cholesterol esters, and several apolipoproteins.

Comments:

Reference:

HP:0012238

Genes and Diseases:

Child Nodes:

Sister Nodes:

Increased HDL cholesterol concentration (HP:0012184)

Increased LDL cholesterol concentration (HP:0003141)

Increased VLDL cholesterol concentration (HP:0003362)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012238	HP:0012238	Increased circulating chylomicron concentration	0	APOA5 CL E G H	116519	17288	OMIM:144650	Hyperlipoproteinemia, type V	.	7
HP:0012238	HP:0012238	Increased circulating chylomicron concentration	0	APOC2 CL E G H	344	609	OMIM:207750	APOLIPOPROTEIN C-II DEFICIENCY		27
HP:0012238	HP:0012238	Increased circulating chylomicron concentration	0	GPIHBP1 CL E G H	338328	24945	OMIM:615947	Hyperlipoproteinemia, type ID		12
HP:0012238	HP:0012238	Increased circulating chylomicron concentration	0	LPL CL E G H	4023	6677	OMIM:238600	Type I hyperlipoproteinemia	.	106

Genes (4) :APOA5 APOC2 GPIHBP1 LPL

Diseases (4) :OMIM:144650 OMIM:207750 OMIM:615947 OMIM:238600

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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