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:
Abnormality of amino acid metabolism (HP:0004337)

Parent Node:
Abnormal circulating sulfur amino acid concentration (HP:0004339)

..Starting node
..Abnormal circulating homocysteine concentration (HP:0010919)

Term ID:

10919

Name:

Abnormal circulating homocysteine concentration

Synonym:

Definition:

An abnormality of a homocysteine metabolic process.

Comments:

Reference:

HP:0010919

Genes and Diseases:

Child Nodes:

........

Homocystinuria (HP:0002156)

........

Hyperhomocystinemia (HP:0002160)

Sister Nodes:

Abnormal circulating cysteine concentration (HP:0010918)

Abnormal circulating methionine concentration (HP:0010901)

Cystathioninemia (HP:0003286)

Cystathioninuria (HP:0003153)

Sulfite oxidase deficiency (HP:0003643)

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:0010919	HP:0010919	Abnormal circulating homocysteine concentration	0	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type		53
HP:0010919	HP:0010919	Abnormal circulating homocysteine concentration	0	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency	HP:0040281 - Very frequent	31
HP:0010919	HP:0010919	Abnormal circulating homocysteine concentration	0	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency		242
HP:0010919	HP:0010919	Abnormal circulating homocysteine concentration	0	CD320 CL E G H	51293	16692	OMIM:613646	METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT		16
HP:0010919	HP:0010919	Abnormal circulating homocysteine concentration	0	LMBRD1 CL E G H	55788	23038	ORPHA:79284	Methylmalonic acidemia with homocystinuria type cblF		46
HP:0010919	HP:0010919	Abnormal circulating homocysteine concentration	0	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type		46
HP:0010919	HP:0010919	Abnormal circulating homocysteine concentration	0	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC		101
HP:0010919	HP:0010919	Abnormal circulating homocysteine concentration	0	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type		101
HP:0010919	HP:0010919	Abnormal circulating homocysteine concentration	0	MMADHC CL E G H	27249	25221	OMIM:277410	Methylmalonic aciduria and homocystinuria, Cbld type		50
HP:0010919	HP:0010919	Abnormal circulating homocysteine concentration	0	MTHFR CL E G H	4524	7436	OMIM:236250	Homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolatereductase activity		183
HP:0010919	HP:0010919	Abnormal circulating homocysteine concentration	0	MTHFR CL E G H	4524	7436	ORPHA:395	Homocystinuria due to methylene tetrahydrofolate reductase deficiency		183
HP:0010919	HP:0010919	Abnormal circulating homocysteine concentration	0	MTR CL E G H	4548	7468	OMIM:250940	Homocystinuria-megaloblastic anemia, cblg Complementation type		217
HP:0010919	HP:0010919	Abnormal circulating homocysteine concentration	0	MTRR CL E G H	4552	7473	OMIM:236270	Homocystinuria-megaloblastic anemia, cbl E type		88
HP:0010919	HP:0010919	Abnormal circulating homocysteine concentration	0	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE		88
HP:0010919	HP:0010919	Abnormal circulating homocysteine concentration	0	NFE2L2 CL E G H	4780	7782	OMIM:617744	Immunodeficiency, developmental delay, and hypohomocysteinemia		20
HP:0010919	HP:0010919	Abnormal circulating homocysteine concentration	0	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type
HP:0010919	HP:0010919	Abnormal circulating homocysteine concentration	0	SLC19A1 CL E G H	6573	10937	OMIM:601775	FOLATE LEVEL IN ERYTHROCYTES		1
HP:0010919	HP:0002160	Hyperhomocystinemia	1	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type	.	53
HP:0010919	HP:0002160	Hyperhomocystinemia	1	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency	HP:0040281 - Very frequent	31
HP:0010919	HP:0002160	Hyperhomocystinemia	1	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency		242
HP:0010919	HP:0002160	Hyperhomocystinemia	1	CD320 CL E G H	51293	16692	OMIM:613646	METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT		16
HP:0010919	HP:0002160	Hyperhomocystinemia	1	LMBRD1 CL E G H	55788	23038	ORPHA:79284	Methylmalonic acidemia with homocystinuria type cblF	HP:0040281 - Very frequent	46
HP:0010919	HP:0002160	Hyperhomocystinemia	1	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type	.	46
HP:0010919	HP:0002160	Hyperhomocystinemia	1	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040281 - Very frequent	101
HP:0010919	HP:0002160	Hyperhomocystinemia	1	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.	101
HP:0010919	HP:0002160	Hyperhomocystinemia	1	MMADHC CL E G H	27249	25221	OMIM:277410	Methylmalonic aciduria and homocystinuria, Cbld type	.	50
HP:0010919	HP:0002160	Hyperhomocystinemia	1	MTHFR CL E G H	4524	7436	OMIM:236250	Homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolatereductase activity	.	183
HP:0010919	HP:0002160	Hyperhomocystinemia	1	MTHFR CL E G H	4524	7436	ORPHA:395	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	HP:0040281 - Very frequent	183
HP:0010919	HP:0002160	Hyperhomocystinemia	1	MTR CL E G H	4548	7468	OMIM:250940	Homocystinuria-megaloblastic anemia, cblg Complementation type	.	217
HP:0010919	HP:0002160	Hyperhomocystinemia	1	MTRR CL E G H	4552	7473	OMIM:236270	Homocystinuria-megaloblastic anemia, cbl E type	.	88
HP:0010919	HP:0002160	Hyperhomocystinemia	1	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE	HP:0040281 - Very frequent	88
HP:0010919	HP:0020222	Hypohomocysteinemia	1	NFE2L2 CL E G H	4780	7782	OMIM:617744	Immunodeficiency, developmental delay, and hypohomocysteinemia		20
HP:0010919	HP:0002160	Hyperhomocystinemia	1	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.
HP:0010919	HP:0002160	Hyperhomocystinemia	1	SLC19A1 CL E G H	6573	10937	OMIM:601775	FOLATE LEVEL IN ERYTHROCYTES		1

Genes (13) :ABCD4 AHCY CBS CD320 LMBRD1 MMACHC MMADHC MTHFR MTR MTRR NFE2L2 PRDX1 SLC19A1

Diseases (16) :OMIM:614857 ORPHA:88618 OMIM:236200 OMIM:613646 ORPHA:79284 OMIM:277380 ORPHA:79282 OMIM:277400 OMIM:277410 OMIM:236250 ORPHA:395 OMIM:250940 OMIM:236270 ORPHA:2169 OMIM:617744 OMIM:601775

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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