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 LDL cholesterol concentration (HP:0031886)

Parent Node:
Hypolipoproteinemia (HP:0010981)

..Starting node
..Decreased LDL cholesterol concentration (HP:0003563)

Term ID:

3563

Name:

Decreased LDL cholesterol concentration

Synonym:

Decreased circulating low-density lipoprotein levels; Decreased LDL; Decreased LDLc concentration; Hypobetalipoproteinemia

Definition:

An decreased concentration of low-density lipoprotein cholesterol in the blood.

Comments:

Reference:

HP:0003563

Genes and Diseases:

Child Nodes:

........

Abetalipoproteinemia (HP:0008181)

Sister Nodes:

Decreased circulating chylomicron concentration (HP:0031242)

Decreased HDL cholesterol concentration (HP:0003233)

Decreased VLDL cholesterol concentration (HP:0031243)

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:0003563	HP:0003563	Decreased LDL cholesterol concentration	0	ALG6 CL E G H	29929	23157	ORPHA:79320	ALG6-CDG	HP:0040284 - Very rare	66
HP:0003563	HP:0003563	Decreased LDL cholesterol concentration	0	ANGPTL3 CL E G H	27329	491	OMIM:605019	HYPOBETALIPOPROTEINEMIA, FAMILIAL, 2; FHBL2		7
HP:0003563	HP:0003563	Decreased LDL cholesterol concentration	0	APOA5 CL E G H	116519	17288	OMIM:144650	Hyperlipoproteinemia, type V	.	7
HP:0003563	HP:0003563	Decreased LDL cholesterol concentration	0	APOB CL E G H	338	603	OMIM:615558	Hypobetalipoproteinemia, familial, 1	.	356
HP:0003563	HP:0003563	Decreased LDL cholesterol concentration	0	APOC3 CL E G H	345	610	OMIM:614028	APOLIPOPROTEIN C-III DEFICIENCY		6
HP:0003563	HP:0003563	Decreased LDL cholesterol concentration	0	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG		85
HP:0003563	HP:0003563	Decreased LDL cholesterol concentration	0	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0003563	HP:0003563	Decreased LDL cholesterol concentration	0	GPIHBP1 CL E G H	338328	24945	OMIM:615947	Hyperlipoproteinemia, type ID		12
HP:0003563	HP:0003563	Decreased LDL cholesterol concentration	0	MSMO1 CL E G H	6307	10545	OMIM:616834	Microcephaly, congenital cataract, and psoriasiform dermatitis		3
HP:0003563	HP:0003563	Decreased LDL cholesterol concentration	0	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia	HP:0040282 - Frequent	81
HP:0003563	HP:0003563	Decreased LDL cholesterol concentration	0	MTTP CL E G H	4547	7467	OMIM:200100	ABETALIPOPROTEINEMIA		81
HP:0003563	HP:0003563	Decreased LDL cholesterol concentration	0	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040282 - Frequent	32
HP:0003563	HP:0003563	Decreased LDL cholesterol concentration	0	PANK2 CL E G H	80025	15894	OMIM:607236	Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration	.	55
HP:0003563	HP:0003563	Decreased LDL cholesterol concentration	0	SAR1B CL E G H	51128	10535	OMIM:246700	Chylomicron retention disease		8
HP:0003563	HP:0008181	Abetalipoproteinemia	1	MTTP CL E G H	4547	7467	OMIM:200100	ABETALIPOPROTEINEMIA	.	81

Genes (13) :ALG6 ANGPTL3 APOA5 APOB APOC3 B4GALT1 FDFT1 GPIHBP1 MSMO1 MTTP NGLY1 PANK2 SAR1B

Diseases (14) :ORPHA:79320 OMIM:605019 OMIM:144650 OMIM:615558 OMIM:614028 ORPHA:79332 OMIM:618156 OMIM:615947 OMIM:616834 ORPHA:14 OMIM:200100 ORPHA:404454 OMIM:607236 OMIM:246700

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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