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 lipid concentration (HP:0003119)

Parent Node:
Abnormal circulating cholesterol concentration (HP:0003107)

..Starting node
..Hypercholesterolemia (HP:0003124)

Term ID:

3124

Name:

Hypercholesterolemia

Synonym:

Elevated serum cholesterol; Elevated total cholesterol; High cholesterol; Increased total cholesterol

Definition:

An increased concentration of cholesterol in the blood.

Comments:

Reference:

HP:0003124

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormality of lipoprotein cholesterol concentration (HP:0010979)

Elevated 7-dehydrocholesterol (HP:0010569)

Elevated 8(9)-cholestenol (HP:0003465)

Elevated 8-dehydrocholesterol (HP:0003462)

Elevated cholesterol ester level (HP:0031211)

Hypocholesterolemia (HP:0003146)

Low cholesterol esterification rate (HP:0003349)

obsolete Abnormal cholesterol homeostasis (HP:0003464)

obsolete Increased cholesterol esters (HP:0500010)

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:0003124	HP:0003124	Hypercholesterolemia	0	ABCB4 CL E G H	5244	45	ORPHA:69663	Low phospholipid-associated cholelithiasis	HP:0040283 - Occasional	111
HP:0003124	HP:0003124	Hypercholesterolemia	0	ABCG5 CL E G H	64240	13886	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040280 - Obligate	67
HP:0003124	HP:0003124	Hypercholesterolemia	0	ABCG5 CL E G H	64240	13886	OMIM:618666	SITOSTEROLEMIA 2; STSL2		67
HP:0003124	HP:0003124	Hypercholesterolemia	0	ABCG8 CL E G H	64241	13887	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040280 - Obligate	76
HP:0003124	HP:0003124	Hypercholesterolemia	0	ABCG8 CL E G H	64241	13887	OMIM:210250	Sitosterolemia 1	.	76
HP:0003124	HP:0003124	Hypercholesterolemia	0	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	85
HP:0003124	HP:0003124	Hypercholesterolemia	0	ALB CL E G H	213	399	OMIM:616000	Analbuminemia		104
HP:0003124	HP:0003124	Hypercholesterolemia	0	ALB CL E G H	213	399	ORPHA:86816	Congenital analbuminemia	HP:0040282 - Frequent	104
HP:0003124	HP:0003124	Hypercholesterolemia	0	APOB CL E G H	338	603	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040280 - Obligate	356
HP:0003124	HP:0003124	Hypercholesterolemia	0	APOB CL E G H	338	603	OMIM:144010	Hypercholesterolemia, familial, 2		356
HP:0003124	HP:0003124	Hypercholesterolemia	0	APOC2 CL E G H	344	609	OMIM:207750	APOLIPOPROTEIN C-II DEFICIENCY		27
HP:0003124	HP:0003124	Hypercholesterolemia	0	APOC3 CL E G H	345	610	ORPHA:79506	Cholesterol-ester transfer protein deficiency	HP:0040280 - Obligate	6
HP:0003124	HP:0003124	Hypercholesterolemia	0	APOE CL E G H	348	613	ORPHA:412	Dysbetalipoproteinemia	HP:0040281 - Very frequent	39
HP:0003124	HP:0003124	Hypercholesterolemia	0	APTX CL E G H	54840	15984	OMIM:208920	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia		61
HP:0003124	HP:0003124	Hypercholesterolemia	0	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47		5
HP:0003124	HP:0003124	Hypercholesterolemia	0	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	105
HP:0003124	HP:0003124	Hypercholesterolemia	0	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	11
HP:0003124	HP:0003124	Hypercholesterolemia	0	CAV1 CL E G H	857	1527	OMIM:612526	Lipodystrophy, congenital generalized, type 3		11
HP:0003124	HP:0003124	Hypercholesterolemia	0	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7	.	11
HP:0003124	HP:0003124	Hypercholesterolemia	0	CAV3 CL E G H	859	1529	ORPHA:488650	Distal myopathy, Tateyama type	HP:0040283 - Occasional	148
HP:0003124	HP:0003124	Hypercholesterolemia	0	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	48
HP:0003124	HP:0003124	Hypercholesterolemia	0	CCDC115 CL E G H	84317	28178	OMIM:616828	Congenital disorder of glycosylation, type IIO		3
HP:0003124	HP:0003124	Hypercholesterolemia	0	CEP19 CL E G H	84984	28209	OMIM:615703	Morbid obesity and spermatogenic failure		1
HP:0003124	HP:0003124	Hypercholesterolemia	0	CETP CL E G H	1071	1869	ORPHA:79506	Cholesterol-ester transfer protein deficiency	HP:0040280 - Obligate	41
HP:0003124	HP:0003124	Hypercholesterolemia	0	COG4 CL E G H	25839	18620	ORPHA:263501	COG4-CDG	HP:0040282 - Frequent	67
HP:0003124	HP:0003124	Hypercholesterolemia	0	CREB3L3 CL E G H	84699	18855	OMIM:619324	HYPERTRIGLYCERIDEMIA 2; HYTG2
HP:0003124	HP:0003124	Hypercholesterolemia	0	CYP7A1 CL E G H	1581	2651	ORPHA:209902	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency	HP:0040281 - Very frequent	11
HP:0003124	HP:0003124	Hypercholesterolemia	0	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent	33
HP:0003124	HP:0003124	Hypercholesterolemia	0	DGAT1 CL E G H	8694	2843	OMIM:615863	Diarrhea 7, protein-losing Enteropathy type	.	9
HP:0003124	HP:0003124	Hypercholesterolemia	0	DIO1 CL E G H	1733	2883	OMIM:619855
HP:0003124	HP:0003124	Hypercholesterolemia	0	DLK1 CL E G H	8788	2907	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0003124	HP:0003124	Hypercholesterolemia	0	DLK1 CL E G H	8788	2907	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation	HP:0040283 - Occasional	1
HP:0003124	HP:0003124	Hypercholesterolemia	0	DYRK1B CL E G H	9149	3092	OMIM:615812	Abdominal obesity-metabolic syndrome 3	.	7
HP:0003124	HP:0003124	Hypercholesterolemia	0	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent
HP:0003124	HP:0003124	Hypercholesterolemia	0	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional
HP:0003124	HP:0003124	Hypercholesterolemia	0	GALK1 CL E G H	2584	4118	ORPHA:79237	Galactokinase deficiency	HP:0040284 - Very rare	23
HP:0003124	HP:0003124	Hypercholesterolemia	0	GHR CL E G H	2690	4263	ORPHA:633	Laron syndrome	HP:0040283 - Occasional	98
HP:0003124	HP:0003124	Hypercholesterolemia	0	IFT172 CL E G H	26160	30391	OMIM:619471	BARDET-BIEDL SYNDROME 20; BBS20		48
HP:0003124	HP:0003124	Hypercholesterolemia	0	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent	119
HP:0003124	HP:0003124	Hypercholesterolemia	0	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1	.	257
HP:0003124	HP:0003124	Hypercholesterolemia	0	KIF12 CL E G H	113220	21495	OMIM:619662	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8; PFIC8		1
HP:0003124	HP:0003124	Hypercholesterolemia	0	LDLR CL E G H	3949	6547	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040280 - Obligate	2157
HP:0003124	HP:0003124	Hypercholesterolemia	0	LDLRAP1 CL E G H	26119	18640	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040280 - Obligate	73
HP:0003124	HP:0003124	Hypercholesterolemia	0	LDLRAP1 CL E G H	26119	18640	OMIM:603813	Hypercholesterolemia, autosomal recessive	HP:0040280 - Obligate	73
HP:0003124	HP:0003124	Hypercholesterolemia	0	LIPA CL E G H	3988	6617	ORPHA:75234	Cholesteryl ester storage disease	HP:0040282 - Frequent	73
HP:0003124	HP:0003124	Hypercholesterolemia	0	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency		73
HP:0003124	HP:0003124	Hypercholesterolemia	0	LIPC CL E G H	3990	6619	OMIM:614025	HEPATIC LIPASE DEFICIENCY		35
HP:0003124	HP:0003124	Hypercholesterolemia	0	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2		645
HP:0003124	HP:0003124	Hypercholesterolemia	0	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome	HP:0040281 - Very frequent	645
HP:0003124	HP:0003124	Hypercholesterolemia	0	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia		645
HP:0003124	HP:0003124	Hypercholesterolemia	0	LPL CL E G H	4023	6677	OMIM:144250	Hyperlipidemia, familial combined, 3	.	106
HP:0003124	HP:0003124	Hypercholesterolemia	0	LPL CL E G H	4023	6677	OMIM:238600	Type I hyperlipoproteinemia	.	106
HP:0003124	HP:0003124	Hypercholesterolemia	0	MEF2A CL E G H	4205	6993	OMIM:608320	Coronary artery disease, autosomal dominant, 1	.	5
HP:0003124	HP:0003124	Hypercholesterolemia	0	MEG3 CL E G H	55384	14575	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0003124	HP:0003124	Hypercholesterolemia	0	MEG3 CL E G H	55384	14575	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation	HP:0040283 - Occasional	1
HP:0003124	HP:0003124	Hypercholesterolemia	0	MYO5B CL E G H	4645	7603	OMIM:619868			192
HP:0003124	HP:0003124	Hypercholesterolemia	0	NUP107 CL E G H	57122	29914	OMIM:618348	Galloway-Mowat syndrome 7		5
HP:0003124	HP:0003124	Hypercholesterolemia	0	NUP107 CL E G H	57122	29914	OMIM:616730	Nephrotic syndrome, type 11	.	5
HP:0003124	HP:0003124	Hypercholesterolemia	0	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome	.	88
HP:0003124	HP:0003124	Hypercholesterolemia	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040283 - Occasional	88
HP:0003124	HP:0003124	Hypercholesterolemia	0	PCSK9 CL E G H	255738	20001	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040280 - Obligate	178
HP:0003124	HP:0003124	Hypercholesterolemia	0	PCSK9 CL E G H	255738	20001	OMIM:603776	HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3; HCHOLA3		178
HP:0003124	HP:0003124	Hypercholesterolemia	0	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040282 - Frequent	54
HP:0003124	HP:0003124	Hypercholesterolemia	0	PHKA2 CL E G H	5256	8926	OMIM:306000	Glycogen storage disease ixa	.	54
HP:0003124	HP:0003124	Hypercholesterolemia	0	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency		101
HP:0003124	HP:0003124	Hypercholesterolemia	0	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040282 - Frequent	48
HP:0003124	HP:0003124	Hypercholesterolemia	0	PIK3R5 CL E G H	23533	30035	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2	HP:0040283 - Occasional	11
HP:0003124	HP:0003124	Hypercholesterolemia	0	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	42
HP:0003124	HP:0003124	Hypercholesterolemia	0	PYGL CL E G H	5836	9725	OMIM:232700	Glycogen storage disease VI		71
HP:0003124	HP:0003124	Hypercholesterolemia	0	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome		150
HP:0003124	HP:0003124	Hypercholesterolemia	0	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent	150
HP:0003124	HP:0003124	Hypercholesterolemia	0	RSPO1 CL E G H	284654	21679	OMIM:610644	Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal	.	3
HP:0003124	HP:0003124	Hypercholesterolemia	0	RTL1 CL E G H	388015	14665	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0003124	HP:0003124	Hypercholesterolemia	0	RTL1 CL E G H	388015	14665	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation	HP:0040283 - Occasional
HP:0003124	HP:0003124	Hypercholesterolemia	0	SETX CL E G H	23064	445	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2	HP:0040283 - Occasional	162
HP:0003124	HP:0003124	Hypercholesterolemia	0	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II	HP:0040283 - Occasional	82
HP:0003124	HP:0003124	Hypercholesterolemia	0	SLC25A13 CL E G H	10165	10983	OMIM:605814	Citrullinemia, type II, neonatal-onset	.	82
HP:0003124	HP:0003124	Hypercholesterolemia	0	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency	HP:0040283 - Occasional	82
HP:0003124	HP:0003124	Hypercholesterolemia	0	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib	HP:0040281 - Very frequent	110
HP:0003124	HP:0003124	Hypercholesterolemia	0	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance	HP:0040282 - Frequent	104
HP:0003124	HP:0003124	Hypercholesterolemia	0	TBL1X CL E G H	6907	11585	OMIM:301033	Hypothyroidism, congenital, nongoitrous, 8	.	1
HP:0003124	HP:0003124	Hypercholesterolemia	0	TDP1 CL E G H	55775	18884	ORPHA:94124	Spinocerebellar ataxia with axonal neuropathy type 1	HP:0040282 - Frequent	52
HP:0003124	HP:0003124	Hypercholesterolemia	0	TDP1 CL E G H	55775	18884	OMIM:607250	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	.	52
HP:0003124	HP:0003124	Hypercholesterolemia	0	TMEM199 CL E G H	147007	18085	OMIM:616829	Congenital disorder of glycosylation, type IIP		4
HP:0003124	HP:0003124	Hypercholesterolemia	0	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency	HP:0040282 - Frequent	9
HP:0003124	HP:0003124	Hypercholesterolemia	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0003124	HP:0003124	Hypercholesterolemia	0	TTPA CL E G H	7274	12404	OMIM:277460	VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF	.	62

Genes (65) :ABCB4 ABCG5 ABCG8 AGPAT2 ALB APOB APOC2 APOC3 APOE APTX ATP6AP1 BSCL2 CAV1 CAV3 CAVIN1 CCDC115 CEP19 CETP COG4 CREB3L3 CYP7A1 DEAF1 DGAT1 DIO1 DLK1 DYRK1B FLII FOS GALK1 GHR IFT172 IQSEC2 JAG1 KIF12 LDLR LDLRAP1 LIPA LIPC LMNA LPL MEF2A MEG3 MYO5B NUP107 OCRL PCSK9 PHKA2 PHKB PHKG2 PIK3R5 PPARG PYGL RAI1 RSPO1 RTL1 SETX SLC25A13 SLC37A4 SLC7A7 TBL1X TDP1 TMEM199 TSHB TTC26 TTPA

Diseases (67) :ORPHA:69663 ORPHA:391665 OMIM:618666 OMIM:210250 ORPHA:528 OMIM:616000 ORPHA:86816 OMIM:144010 OMIM:207750 ORPHA:79506 ORPHA:412 OMIM:208920 OMIM:300972 OMIM:612526 OMIM:606721 ORPHA:488650 OMIM:616828 OMIM:615703 ORPHA:263501 OMIM:619324 ORPHA:209902 ORPHA:819 OMIM:615863 OMIM:619855 ORPHA:96184 ORPHA:254531 OMIM:615812 ORPHA:79237 ORPHA:633 OMIM:619471 OMIM:118450 OMIM:619662 OMIM:603813 ORPHA:75234 OMIM:278000 OMIM:614025 OMIM:151660 ORPHA:363618 OMIM:248370 OMIM:144250 OMIM:238600 OMIM:608320 OMIM:619868 OMIM:618348 OMIM:616730 OMIM:309000 ORPHA:534 OMIM:603776 ORPHA:264580 OMIM:306000 ORPHA:79240 ORPHA:64753 OMIM:232700 OMIM:182290 OMIM:610644 ORPHA:247585 OMIM:605814 ORPHA:247598 ORPHA:79259 ORPHA:470 OMIM:301033 ORPHA:94124 OMIM:607250 OMIM:616829 ORPHA:90674 OMIM:619534 OMIM:277460

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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