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:
Abnormal circulating cholesterol concentration (HP:0003107)

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

..Starting node
..Abnormal LDL cholesterol concentration (HP:0031886)

Term ID:

31886

Name:

Abnormal LDL cholesterol concentration

Synonym:

Abnormal LDL-C concentration; Abnormal LDL-C level; Abnormal LDLc concentration

Definition:

Any deviation from the normal concentration of low-density lipoprotein cholesterol in the blood circulation.

Comments:

Reference:

HP:0031886

Genes and Diseases:

Child Nodes:

........

Increased LDL cholesterol concentration (HP:0003141)

........

Decreased LDL cholesterol conncentration (HP:0003563)

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

Sister Nodes:

Abnormal chylomicron concentration (HP:0031887)

Abnormal HDL cholesterol concentration (HP:0031888)

Abnormal VLDL cholesterol concentration (HP:0031889)

Hyperlipoproteinemia (HP:0010980)

Hypolipoproteinemia (HP:0010981)

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:0031886	HP:0031886	Abnormal LDL cholesterol concentration	0	ABCA2 CL E G H	20	32	OMIM:618808	INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA; IDPOGSA
HP:0031886	HP:0031886	Abnormal LDL cholesterol concentration	0	ABCG5 CL E G H	64240	13886	ORPHA:391665	Homozygous familial hypercholesterolemia		67
HP:0031886	HP:0031886	Abnormal LDL cholesterol concentration	0	ABCG8 CL E G H	64241	13887	ORPHA:391665	Homozygous familial hypercholesterolemia		76
HP:0031886	HP:0031886	Abnormal LDL cholesterol concentration	0	ALB CL E G H	213	399	OMIM:616000	Analbuminemia		104
HP:0031886	HP:0031886	Abnormal LDL cholesterol concentration	0	ALG6 CL E G H	29929	23157	ORPHA:79320	ALG6-CDG		66
HP:0031886	HP:0031886	Abnormal LDL cholesterol concentration	0	ANGPTL3 CL E G H	27329	491	OMIM:605019	HYPOBETALIPOPROTEINEMIA, FAMILIAL, 2; FHBL2		7
HP:0031886	HP:0031886	Abnormal LDL cholesterol concentration	0	APOA2 CL E G H	336	601	OMIM:143890	Hypercholesterolemia, familial, 1		9
HP:0031886	HP:0031886	Abnormal LDL cholesterol concentration	0	APOA5 CL E G H	116519	17288	OMIM:144650	Hyperlipoproteinemia, type V		7
HP:0031886	HP:0031886	Abnormal LDL cholesterol concentration	0	APOB CL E G H	338	603	ORPHA:391665	Homozygous familial hypercholesterolemia		356
HP:0031886	HP:0031886	Abnormal LDL cholesterol concentration	0	APOB CL E G H	338	603	OMIM:144010	Hypercholesterolemia, familial, 2		356
HP:0031886	HP:0031886	Abnormal LDL cholesterol concentration	0	APOB CL E G H	338	603	OMIM:615558	Hypobetalipoproteinemia, familial, 1		356
HP:0031886	HP:0031886	Abnormal LDL cholesterol concentration	0	APOC3 CL E G H	345	610	OMIM:614028	APOLIPOPROTEIN C-III DEFICIENCY		6
HP:0031886	HP:0031886	Abnormal LDL cholesterol concentration	0	APOE CL E G H	348	613	ORPHA:412	Dysbetalipoproteinemia		39
HP:0031886	HP:0031886	Abnormal LDL cholesterol concentration	0	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG		85
HP:0031886	HP:0031886	Abnormal LDL cholesterol concentration	0	CCDC115 CL E G H	84317	28178	OMIM:616828	Congenital disorder of glycosylation, type IIO		3
HP:0031886	HP:0031886	Abnormal LDL cholesterol concentration	0	CELA2A CL E G H	63036	24609	OMIM:618620	ABDOMINAL OBESITY-METABOLIC SYNDROME 4; AOMS4		1
HP:0031886	HP:0031886	Abnormal LDL cholesterol concentration	0	CEP19 CL E G H	84984	28209	OMIM:615703	Morbid obesity and spermatogenic failure		1
HP:0031886	HP:0031886	Abnormal LDL cholesterol concentration	0	CYP7A1 CL E G H	1581	2651	ORPHA:209902	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency		11
HP:0031886	HP:0031886	Abnormal LDL cholesterol concentration	0	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy		107
HP:0031886	HP:0031886	Abnormal LDL cholesterol concentration	0	EPHX2 CL E G H	2053	3402	OMIM:143890	Hypercholesterolemia, familial, 1		1
HP:0031886	HP:0031886	Abnormal LDL cholesterol concentration	0	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0031886	HP:0031886	Abnormal LDL cholesterol concentration	0	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy		68
HP:0031886	HP:0031886	Abnormal LDL cholesterol concentration	0	GHR CL E G H	2690	4263	OMIM:143890	Hypercholesterolemia, familial, 1		98
HP:0031886	HP:0031886	Abnormal LDL cholesterol concentration	0	GPIHBP1 CL E G H	338328	24945	OMIM:615947	Hyperlipoproteinemia, type ID		12
HP:0031886	HP:0031886	Abnormal LDL cholesterol concentration	0	LCAT CL E G H	3931	6522	OMIM:136120	Fish-Eye disease		26
HP:0031886	HP:0031886	Abnormal LDL cholesterol concentration	0	LDLR CL E G H	3949	6547	ORPHA:391665	Homozygous familial hypercholesterolemia		2157
HP:0031886	HP:0031886	Abnormal LDL cholesterol concentration	0	LDLR CL E G H	3949	6547	OMIM:143890	Hypercholesterolemia, familial, 1		2157
HP:0031886	HP:0031886	Abnormal LDL cholesterol concentration	0	LDLRAP1 CL E G H	26119	18640	ORPHA:391665	Homozygous familial hypercholesterolemia		73
HP:0031886	HP:0031886	Abnormal LDL cholesterol concentration	0	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency		73
HP:0031886	HP:0031886	Abnormal LDL cholesterol concentration	0	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		645
HP:0031886	HP:0031886	Abnormal LDL cholesterol concentration	0	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy		645
HP:0031886	HP:0031886	Abnormal LDL cholesterol concentration	0	LMNA CL E G H	4000	6636	OMIM:616516	Emery-Dreifuss muscular dystrophy 3, autosomal recessive		645
HP:0031886	HP:0031886	Abnormal LDL cholesterol concentration	0	LPL CL E G H	4023	6677	OMIM:144250	Hyperlipidemia, familial combined, 3		106
HP:0031886	HP:0031886	Abnormal LDL cholesterol concentration	0	LRP6 CL E G H	4040	6698	OMIM:610947	Coronary artery disease, autosomal dominant 2		26
HP:0031886	HP:0031886	Abnormal LDL cholesterol concentration	0	MSMO1 CL E G H	6307	10545	OMIM:616834	Microcephaly, congenital cataract, and psoriasiform dermatitis		3
HP:0031886	HP:0031886	Abnormal LDL cholesterol concentration	0	MTTP CL E G H	4547	7467	OMIM:200100	ABETALIPOPROTEINEMIA		81
HP:0031886	HP:0031886	Abnormal LDL cholesterol concentration	0	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia		81
HP:0031886	HP:0031886	Abnormal LDL cholesterol concentration	0	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome		32
HP:0031886	HP:0031886	Abnormal LDL cholesterol concentration	0	PANK2 CL E G H	80025	15894	OMIM:607236	Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration		55
HP:0031886	HP:0031886	Abnormal LDL cholesterol concentration	0	PCSK9 CL E G H	255738	20001	ORPHA:391665	Homozygous familial hypercholesterolemia		178
HP:0031886	HP:0031886	Abnormal LDL cholesterol concentration	0	PCSK9 CL E G H	255738	20001	OMIM:603776	HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3; HCHOLA3		178
HP:0031886	HP:0031886	Abnormal LDL cholesterol concentration	0	PPP1R17 CL E G H	10842	16973	OMIM:143890	Hypercholesterolemia, familial, 1		2
HP:0031886	HP:0031886	Abnormal LDL cholesterol concentration	0	SAR1B CL E G H	51128	10535	OMIM:246700	Chylomicron retention disease		8
HP:0031886	HP:0031886	Abnormal LDL cholesterol concentration	0	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency		82
HP:0031886	HP:0031886	Abnormal LDL cholesterol concentration	0	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance		104
HP:0031886	HP:0031886	Abnormal LDL cholesterol concentration	0	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B		164
HP:0031886	HP:0031886	Abnormal LDL cholesterol concentration	0	SMPD1 CL E G H	6609	11120	OMIM:607616	Niemann-pick disease, type B		164
HP:0031886	HP:0031886	Abnormal LDL cholesterol concentration	0	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		1129
HP:0031886	HP:0031886	Abnormal LDL cholesterol concentration	0	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		508
HP:0031886	HP:0031886	Abnormal LDL cholesterol concentration	0	TMEM199 CL E G H	147007	18085	OMIM:616829	Congenital disorder of glycosylation, type IIP		4
HP:0031886	HP:0031886	Abnormal LDL cholesterol concentration	0	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		171
HP:0031886	HP:0031886	Abnormal LDL cholesterol concentration	0	TTPA CL E G H	7274	12404	OMIM:277460	VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF		62
HP:0031886	HP:0003141	Increased LDL cholesterol concentration	1	ABCA2 CL E G H	20	32	OMIM:618808	INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA; IDPOGSA
HP:0031886	HP:0003141	Increased LDL cholesterol concentration	1	ABCG5 CL E G H	64240	13886	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040280 - Obligate	67
HP:0031886	HP:0003141	Increased LDL cholesterol concentration	1	ABCG8 CL E G H	64241	13887	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040280 - Obligate	76
HP:0031886	HP:0003141	Increased LDL cholesterol concentration	1	ALB CL E G H	213	399	OMIM:616000	Analbuminemia		104
HP:0031886	HP:0003563	Decreased LDL cholesterol concentration	1	ALG6 CL E G H	29929	23157	ORPHA:79320	ALG6-CDG	HP:0040284 - Very rare	66
HP:0031886	HP:0003563	Decreased LDL cholesterol concentration	1	ANGPTL3 CL E G H	27329	491	OMIM:605019	HYPOBETALIPOPROTEINEMIA, FAMILIAL, 2; FHBL2		7
HP:0031886	HP:0003141	Increased LDL cholesterol concentration	1	APOA2 CL E G H	336	601	OMIM:143890	Hypercholesterolemia, familial, 1		9
HP:0031886	HP:0003563	Decreased LDL cholesterol concentration	1	APOA5 CL E G H	116519	17288	OMIM:144650	Hyperlipoproteinemia, type V	.	7
HP:0031886	HP:0003141	Increased LDL cholesterol concentration	1	APOB CL E G H	338	603	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040280 - Obligate	356
HP:0031886	HP:0003141	Increased LDL cholesterol concentration	1	APOB CL E G H	338	603	OMIM:144010	Hypercholesterolemia, familial, 2		356
HP:0031886	HP:0003563	Decreased LDL cholesterol concentration	1	APOB CL E G H	338	603	OMIM:615558	Hypobetalipoproteinemia, familial, 1	.	356
HP:0031886	HP:0003563	Decreased LDL cholesterol concentration	1	APOC3 CL E G H	345	610	OMIM:614028	APOLIPOPROTEIN C-III DEFICIENCY		6
HP:0031886	HP:0003141	Increased LDL cholesterol concentration	1	APOE CL E G H	348	613	ORPHA:412	Dysbetalipoproteinemia	HP:0040281 - Very frequent	39
HP:0031886	HP:0003563	Decreased LDL cholesterol concentration	1	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG		85
HP:0031886	HP:0003141	Increased LDL cholesterol concentration	1	CCDC115 CL E G H	84317	28178	OMIM:616828	Congenital disorder of glycosylation, type IIO		3
HP:0031886	HP:0003141	Increased LDL cholesterol concentration	1	CELA2A CL E G H	63036	24609	OMIM:618620	ABDOMINAL OBESITY-METABOLIC SYNDROME 4; AOMS4		1
HP:0031886	HP:0003141	Increased LDL cholesterol concentration	1	CEP19 CL E G H	84984	28209	OMIM:615703	Morbid obesity and spermatogenic failure		1
HP:0031886	HP:0003141	Increased LDL cholesterol concentration	1	CYP7A1 CL E G H	1581	2651	ORPHA:209902	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency	HP:0040281 - Very frequent	11
HP:0031886	HP:0003141	Increased LDL cholesterol concentration	1	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	107
HP:0031886	HP:0003141	Increased LDL cholesterol concentration	1	EPHX2 CL E G H	2053	3402	OMIM:143890	Hypercholesterolemia, familial, 1		1
HP:0031886	HP:0003563	Decreased LDL cholesterol concentration	1	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0031886	HP:0003141	Increased LDL cholesterol concentration	1	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	68
HP:0031886	HP:0003141	Increased LDL cholesterol concentration	1	GHR CL E G H	2690	4263	OMIM:143890	Hypercholesterolemia, familial, 1		98
HP:0031886	HP:0003563	Decreased LDL cholesterol concentration	1	GPIHBP1 CL E G H	338328	24945	OMIM:615947	Hyperlipoproteinemia, type ID		12
HP:0031886	HP:0003141	Increased LDL cholesterol concentration	1	LCAT CL E G H	3931	6522	OMIM:136120	Fish-Eye disease	.	26
HP:0031886	HP:0003141	Increased LDL cholesterol concentration	1	LDLR CL E G H	3949	6547	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040280 - Obligate	2157
HP:0031886	HP:0003141	Increased LDL cholesterol concentration	1	LDLR CL E G H	3949	6547	OMIM:143890	Hypercholesterolemia, familial, 1		2157
HP:0031886	HP:0003141	Increased LDL cholesterol concentration	1	LDLRAP1 CL E G H	26119	18640	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040280 - Obligate	73
HP:0031886	HP:0003141	Increased LDL cholesterol concentration	1	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency		73
HP:0031886	HP:0003141	Increased LDL cholesterol concentration	1	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	645
HP:0031886	HP:0003141	Increased LDL cholesterol concentration	1	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	645
HP:0031886	HP:0003141	Increased LDL cholesterol concentration	1	LMNA CL E G H	4000	6636	OMIM:616516	Emery-Dreifuss muscular dystrophy 3, autosomal recessive	HP:0040283 - Occasional	645
HP:0031886	HP:0003141	Increased LDL cholesterol concentration	1	LPL CL E G H	4023	6677	OMIM:144250	Hyperlipidemia, familial combined, 3		106
HP:0031886	HP:0003141	Increased LDL cholesterol concentration	1	LRP6 CL E G H	4040	6698	OMIM:610947	Coronary artery disease, autosomal dominant 2		26
HP:0031886	HP:0003563	Decreased LDL cholesterol concentration	1	MSMO1 CL E G H	6307	10545	OMIM:616834	Microcephaly, congenital cataract, and psoriasiform dermatitis		3
HP:0031886	HP:0003563	Decreased LDL cholesterol concentration	1	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia	HP:0040282 - Frequent	81
HP:0031886	HP:0003563	Decreased LDL cholesterol concentration	1	MTTP CL E G H	4547	7467	OMIM:200100	ABETALIPOPROTEINEMIA		81
HP:0031886	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:0031886	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:0031886	HP:0003141	Increased LDL cholesterol concentration	1	PCSK9 CL E G H	255738	20001	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040280 - Obligate	178
HP:0031886	HP:0003141	Increased LDL cholesterol concentration	1	PPP1R17 CL E G H	10842	16973	OMIM:143890	Hypercholesterolemia, familial, 1		2
HP:0031886	HP:0003563	Decreased LDL cholesterol concentration	1	SAR1B CL E G H	51128	10535	OMIM:246700	Chylomicron retention disease		8
HP:0031886	HP:0003141	Increased LDL cholesterol concentration	1	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency	HP:0040283 - Occasional	82
HP:0031886	HP:0003141	Increased LDL cholesterol concentration	1	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance	HP:0040282 - Frequent	104
HP:0031886	HP:0003141	Increased LDL cholesterol concentration	1	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B	HP:0040282 - Frequent	164
HP:0031886	HP:0003141	Increased LDL cholesterol concentration	1	SMPD1 CL E G H	6609	11120	OMIM:607616	Niemann-pick disease, type B	.	164
HP:0031886	HP:0003141	Increased LDL cholesterol concentration	1	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	1129
HP:0031886	HP:0003141	Increased LDL cholesterol concentration	1	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	508
HP:0031886	HP:0003141	Increased LDL cholesterol concentration	1	TMEM199 CL E G H	147007	18085	OMIM:616829	Congenital disorder of glycosylation, type IIP		4
HP:0031886	HP:0003141	Increased LDL cholesterol concentration	1	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	171
HP:0031886	HP:0003141	Increased LDL cholesterol concentration	1	TTPA CL E G H	7274	12404	OMIM:277460	VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF	.	62
HP:0031886	HP:0008181	Abetalipoproteinemia	2	MTTP CL E G H	4547	7467	OMIM:200100	ABETALIPOPROTEINEMIA	.	81

Genes (44) :ABCA2 ABCG5 ABCG8 ALB ALG6 ANGPTL3 APOA2 APOA5 APOB APOC3 APOE B4GALT1 CCDC115 CELA2A CEP19 CYP7A1 EMD EPHX2 FDFT1 FHL1 GHR GPIHBP1 LCAT LDLR LDLRAP1 LIPA LMNA LPL LRP6 MSMO1 MTTP NGLY1 PANK2 PCSK9 PPP1R17 SAR1B SLC25A13 SLC7A7 SMPD1 SYNE1 SYNE2 TMEM199 TMEM43 TTPA

Diseases (39) :OMIM:618808 ORPHA:391665 OMIM:616000 ORPHA:79320 OMIM:605019 OMIM:143890 OMIM:144650 OMIM:144010 OMIM:615558 OMIM:614028 ORPHA:412 ORPHA:79332 OMIM:616828 OMIM:618620 OMIM:615703 ORPHA:209902 ORPHA:98863 OMIM:618156 OMIM:615947 OMIM:136120 OMIM:278000 ORPHA:98853 ORPHA:98855 OMIM:616516 OMIM:144250 OMIM:610947 OMIM:616834 OMIM:200100 ORPHA:14 ORPHA:404454 OMIM:607236 OMIM:603776 OMIM:246700 ORPHA:247598 ORPHA:470 ORPHA:77293 OMIM:607616 OMIM:616829 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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