Human Phenotype Ontology

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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:
Abnormal circulating cholesterol concentration (HP:0003107)

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

..Starting node
..Hypolipoproteinemia (HP:0010981)

Term ID:

10981

Name:

Hypolipoproteinemia

Synonym:

Lack of fat in blood

Definition:

An abnormal decrease in the level of lipoprotein cholesterol in the blood.

Comments:

Reference:

HP:0010981

Genes and Diseases:

Child Nodes:

........

Decreased HDL cholesterol concentration (HP:0003233)

........

Decreased LDL cholesterol conncentration (HP:0003563)

................... HP:0008181 Abetalipoproteinemia

........

Decreased circulating chylomicron concentration (HP:0031242)

........

Decreased VLDL cholesterol concentration (HP:0031243)

Sister Nodes:

Abnormal chylomicron concentration (HP:0031887)

Abnormal HDL cholesterol concentration (HP:0031888)

Abnormal LDL cholesterol concentration (HP:0031886)

Abnormal VLDL cholesterol concentration (HP:0031889)

Hyperlipoproteinemia (HP:0010980)

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:0010981	HP:0010981	Hypolipoproteinemia	0	ABCA1 CL E G H	19	29	ORPHA:425	Apolipoprotein A-I deficiency		191
HP:0010981	HP:0010981	Hypolipoproteinemia	0	ABCA1 CL E G H	19	29	OMIM:604091	HYPOALPHALIPOPROTEINEMIA, PRIMARY		191
HP:0010981	HP:0010981	Hypolipoproteinemia	0	ABCA1 CL E G H	19	29	OMIM:205400	Tangier disease		191
HP:0010981	HP:0010981	Hypolipoproteinemia	0	ALG6 CL E G H	29929	23157	ORPHA:79320	ALG6-CDG		66
HP:0010981	HP:0010981	Hypolipoproteinemia	0	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome		404
HP:0010981	HP:0010981	Hypolipoproteinemia	0	ANGPTL3 CL E G H	27329	491	OMIM:605019	HYPOBETALIPOPROTEINEMIA, FAMILIAL, 2; FHBL2		7
HP:0010981	HP:0010981	Hypolipoproteinemia	0	APOA1 CL E G H	335	600	ORPHA:425	Apolipoprotein A-I deficiency		40
HP:0010981	HP:0010981	Hypolipoproteinemia	0	APOA1 CL E G H	335	600	OMIM:618463	HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2		40
HP:0010981	HP:0010981	Hypolipoproteinemia	0	APOA1 CL E G H	335	600	OMIM:619836	HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2, INTERMEDIATE		40
HP:0010981	HP:0010981	Hypolipoproteinemia	0	APOA5 CL E G H	116519	17288	OMIM:144650	Hyperlipoproteinemia, type V		7
HP:0010981	HP:0010981	Hypolipoproteinemia	0	APOB CL E G H	338	603	OMIM:615558	Hypobetalipoproteinemia, familial, 1		356
HP:0010981	HP:0010981	Hypolipoproteinemia	0	APOC3 CL E G H	345	610	OMIM:614028	APOLIPOPROTEIN C-III DEFICIENCY		6
HP:0010981	HP:0010981	Hypolipoproteinemia	0	APOE CL E G H	348	613	ORPHA:412	Dysbetalipoproteinemia		39
HP:0010981	HP:0010981	Hypolipoproteinemia	0	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG		85
HP:0010981	HP:0010981	Hypolipoproteinemia	0	CELA2A CL E G H	63036	24609	OMIM:618620	ABDOMINAL OBESITY-METABOLIC SYNDROME 4; AOMS4		1
HP:0010981	HP:0010981	Hypolipoproteinemia	0	CEP19 CL E G H	84984	28209	OMIM:615703	Morbid obesity and spermatogenic failure		1
HP:0010981	HP:0010981	Hypolipoproteinemia	0	CREB3L3 CL E G H	84699	18855	OMIM:619324	HYPERTRIGLYCERIDEMIA 2; HYTG2
HP:0010981	HP:0010981	Hypolipoproteinemia	0	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0010981	HP:0010981	Hypolipoproteinemia	0	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0010981	HP:0010981	Hypolipoproteinemia	0	GPIHBP1 CL E G H	338328	24945	OMIM:615947	Hyperlipoproteinemia, type ID		12
HP:0010981	HP:0010981	Hypolipoproteinemia	0	LCAT CL E G H	3931	6522	ORPHA:79292	Fish-eye disease		26
HP:0010981	HP:0010981	Hypolipoproteinemia	0	LCAT CL E G H	3931	6522	OMIM:136120	Fish-Eye disease		26
HP:0010981	HP:0010981	Hypolipoproteinemia	0	LCAT CL E G H	3931	6522	OMIM:245900	Lecithin:cholesterol acyltransferase deficiency		26
HP:0010981	HP:0010981	Hypolipoproteinemia	0	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency		73
HP:0010981	HP:0010981	Hypolipoproteinemia	0	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy		645
HP:0010981	HP:0010981	Hypolipoproteinemia	0	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2		645
HP:0010981	HP:0010981	Hypolipoproteinemia	0	MSMO1 CL E G H	6307	10545	OMIM:616834	Microcephaly, congenital cataract, and psoriasiform dermatitis		3
HP:0010981	HP:0010981	Hypolipoproteinemia	0	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia		81
HP:0010981	HP:0010981	Hypolipoproteinemia	0	MTTP CL E G H	4547	7467	OMIM:200100	ABETALIPOPROTEINEMIA		81
HP:0010981	HP:0010981	Hypolipoproteinemia	0	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome		32
HP:0010981	HP:0010981	Hypolipoproteinemia	0	PANK2 CL E G H	80025	15894	OMIM:607236	Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration		55
HP:0010981	HP:0010981	Hypolipoproteinemia	0	PPARG CL E G H	5468	9236	OMIM:604367	Lipodystrophy, familial partial, type 3		42
HP:0010981	HP:0010981	Hypolipoproteinemia	0	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0010981	HP:0010981	Hypolipoproteinemia	0	SAR1B CL E G H	51128	10535	OMIM:246700	Chylomicron retention disease		8
HP:0010981	HP:0010981	Hypolipoproteinemia	0	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II		82
HP:0010981	HP:0010981	Hypolipoproteinemia	0	SLC25A13 CL E G H	10165	10983	OMIM:605814	Citrullinemia, type II, neonatal-onset		82
HP:0010981	HP:0010981	Hypolipoproteinemia	0	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency		82
HP:0010981	HP:0010981	Hypolipoproteinemia	0	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance		104
HP:0010981	HP:0010981	Hypolipoproteinemia	0	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B		164
HP:0010981	HP:0010981	Hypolipoproteinemia	0	SMPD1 CL E G H	6609	11120	OMIM:607616	Niemann-pick disease, type B		164
HP:0010981	HP:0031243	Decreased VLDL cholesterol concentration	1	CL E G H
HP:0010981	HP:0031242	Decreased circulating chylomicron concentration	1	CL E G H
HP:0010981	HP:0003233	Decreased HDL cholesterol concentration	1	ABCA1 CL E G H	19	29	ORPHA:425	Apolipoprotein A-I deficiency	HP:0040282 - Frequent	191
HP:0010981	HP:0003233	Decreased HDL cholesterol concentration	1	ABCA1 CL E G H	19	29	OMIM:604091	HYPOALPHALIPOPROTEINEMIA, PRIMARY		191
HP:0010981	HP:0003233	Decreased HDL cholesterol concentration	1	ABCA1 CL E G H	19	29	OMIM:205400	Tangier disease	.	191
HP:0010981	HP:0003563	Decreased LDL cholesterol concentration	1	ALG6 CL E G H	29929	23157	ORPHA:79320	ALG6-CDG	HP:0040284 - Very rare	66
HP:0010981	HP:0003233	Decreased HDL cholesterol concentration	1	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome	.	404
HP:0010981	HP:0003563	Decreased LDL cholesterol concentration	1	ANGPTL3 CL E G H	27329	491	OMIM:605019	HYPOBETALIPOPROTEINEMIA, FAMILIAL, 2; FHBL2		7
HP:0010981	HP:0003233	Decreased HDL cholesterol concentration	1	APOA1 CL E G H	335	600	ORPHA:425	Apolipoprotein A-I deficiency	HP:0040282 - Frequent	40
HP:0010981	HP:0003233	Decreased HDL cholesterol concentration	1	APOA1 CL E G H	335	600	OMIM:618463	HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2		40
HP:0010981	HP:0003233	Decreased HDL cholesterol concentration	1	APOA1 CL E G H	335	600	OMIM:619836	HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2, INTERMEDIATE		40
HP:0010981	HP:0003233	Decreased HDL cholesterol concentration	1	APOA5 CL E G H	116519	17288	OMIM:144650	Hyperlipoproteinemia, type V	.	7
HP:0010981	HP:0003563	Decreased LDL cholesterol concentration	1	APOA5 CL E G H	116519	17288	OMIM:144650	Hyperlipoproteinemia, type V	.	7
HP:0010981	HP:0003233	Decreased HDL cholesterol concentration	1	APOB CL E G H	338	603	OMIM:615558	Hypobetalipoproteinemia, familial, 1		356
HP:0010981	HP:0003563	Decreased LDL cholesterol concentration	1	APOB CL E G H	338	603	OMIM:615558	Hypobetalipoproteinemia, familial, 1	.	356
HP:0010981	HP:0003563	Decreased LDL cholesterol concentration	1	APOC3 CL E G H	345	610	OMIM:614028	APOLIPOPROTEIN C-III DEFICIENCY		6
HP:0010981	HP:0003233	Decreased HDL cholesterol concentration	1	APOE CL E G H	348	613	ORPHA:412	Dysbetalipoproteinemia	HP:0040281 - Very frequent	39
HP:0010981	HP:0003563	Decreased LDL cholesterol concentration	1	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG		85
HP:0010981	HP:0003233	Decreased HDL cholesterol concentration	1	CELA2A CL E G H	63036	24609	OMIM:618620	ABDOMINAL OBESITY-METABOLIC SYNDROME 4; AOMS4		1
HP:0010981	HP:0003233	Decreased HDL cholesterol concentration	1	CEP19 CL E G H	84984	28209	OMIM:615703	Morbid obesity and spermatogenic failure		1
HP:0010981	HP:0003233	Decreased HDL cholesterol concentration	1	CREB3L3 CL E G H	84699	18855	OMIM:619324	HYPERTRIGLYCERIDEMIA 2; HYTG2
HP:0010981	HP:0003563	Decreased LDL cholesterol concentration	1	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0010981	HP:0003233	Decreased HDL cholesterol concentration	1	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0010981	HP:0003563	Decreased LDL cholesterol concentration	1	GPIHBP1 CL E G H	338328	24945	OMIM:615947	Hyperlipoproteinemia, type ID		12
HP:0010981	HP:0003233	Decreased HDL cholesterol concentration	1	GPIHBP1 CL E G H	338328	24945	OMIM:615947	Hyperlipoproteinemia, type ID		12
HP:0010981	HP:0003233	Decreased HDL cholesterol concentration	1	LCAT CL E G H	3931	6522	ORPHA:79292	Fish-eye disease	HP:0040281 - Very frequent	26
HP:0010981	HP:0003233	Decreased HDL cholesterol concentration	1	LCAT CL E G H	3931	6522	OMIM:136120	Fish-Eye disease	.	26
HP:0010981	HP:0003233	Decreased HDL cholesterol concentration	1	LCAT CL E G H	3931	6522	OMIM:245900	Lecithin:cholesterol acyltransferase deficiency	.	26
HP:0010981	HP:0003233	Decreased HDL cholesterol concentration	1	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency		73
HP:0010981	HP:0003233	Decreased HDL cholesterol concentration	1	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy	HP:0040282 - Frequent	645
HP:0010981	HP:0003233	Decreased HDL cholesterol concentration	1	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2	.	645
HP:0010981	HP:0003233	Decreased HDL cholesterol concentration	1	MSMO1 CL E G H	6307	10545	OMIM:616834	Microcephaly, congenital cataract, and psoriasiform dermatitis		3
HP:0010981	HP:0003563	Decreased LDL cholesterol concentration	1	MSMO1 CL E G H	6307	10545	OMIM:616834	Microcephaly, congenital cataract, and psoriasiform dermatitis		3
HP:0010981	HP:0003563	Decreased LDL cholesterol concentration	1	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia	HP:0040282 - Frequent	81
HP:0010981	HP:0003563	Decreased LDL cholesterol concentration	1	MTTP CL E G H	4547	7467	OMIM:200100	ABETALIPOPROTEINEMIA		81
HP:0010981	HP:0003233	Decreased HDL cholesterol concentration	1	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia	HP:0040282 - Frequent	81
HP:0010981	HP:0003563	Decreased LDL cholesterol concentration	1	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040282 - Frequent	32
HP:0010981	HP:0003563	Decreased LDL cholesterol concentration	1	PANK2 CL E G H	80025	15894	OMIM:607236	Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration	.	55
HP:0010981	HP:0003233	Decreased HDL cholesterol concentration	1	PPARG CL E G H	5468	9236	OMIM:604367	Lipodystrophy, familial partial, type 3	.	42
HP:0010981	HP:0003233	Decreased HDL cholesterol concentration	1	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0010981	HP:0003563	Decreased LDL cholesterol concentration	1	SAR1B CL E G H	51128	10535	OMIM:246700	Chylomicron retention disease		8
HP:0010981	HP:0003233	Decreased HDL cholesterol concentration	1	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II	HP:0040283 - Occasional	82
HP:0010981	HP:0003233	Decreased HDL cholesterol concentration	1	SLC25A13 CL E G H	10165	10983	OMIM:605814	Citrullinemia, type II, neonatal-onset	.	82
HP:0010981	HP:0003233	Decreased HDL cholesterol concentration	1	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency	HP:0040283 - Occasional	82
HP:0010981	HP:0003233	Decreased HDL cholesterol concentration	1	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance	HP:0040282 - Frequent	104
HP:0010981	HP:0003233	Decreased HDL cholesterol concentration	1	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B	HP:0040282 - Frequent	164
HP:0010981	HP:0003233	Decreased HDL cholesterol concentration	1	SMPD1 CL E G H	6609	11120	OMIM:607616	Niemann-pick disease, type B	.	164
HP:0010981	HP:0008181	Abetalipoproteinemia	2	MTTP CL E G H	4547	7467	OMIM:200100	ABETALIPOPROTEINEMIA	.	81

Genes (29) :ABCA1 ALG6 ALMS1 ANGPTL3 APOA1 APOA5 APOB APOC3 APOE B4GALT1 CELA2A CEP19 CREB3L3 FDFT1 GALNT2 GPIHBP1 LCAT LIPA LMNA MSMO1 MTTP NGLY1 PANK2 PPARG PSMB8 SAR1B SLC25A13 SLC7A7 SMPD1

Diseases (39) :ORPHA:425 OMIM:604091 OMIM:205400 ORPHA:79320 OMIM:203800 OMIM:605019 OMIM:618463 OMIM:619836 OMIM:144650 OMIM:615558 OMIM:614028 ORPHA:412 ORPHA:79332 OMIM:618620 OMIM:615703 OMIM:619324 OMIM:618156 OMIM:618885 OMIM:615947 ORPHA:79292 OMIM:136120 OMIM:245900 OMIM:278000 ORPHA:280365 OMIM:151660 OMIM:616834 ORPHA:14 OMIM:200100 ORPHA:404454 OMIM:607236 OMIM:604367 OMIM:256040 OMIM:246700 ORPHA:247585 OMIM:605814 ORPHA:247598 ORPHA:470 ORPHA:77293 OMIM:607616

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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