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 amino acid metabolism (HP:0004337)

Parent Node:
Abnormal circulating aspartate family amino acid concentration (HP:0010899)

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

..Starting node
..Abnormal circulating methionine concentration (HP:0010901)

Term ID:

10901

Name:

Abnormal circulating methionine concentration

Synonym:

Abnormality of methionine metabolism

Definition:

Any deviation from the normal concentration of methionine in the blood circulation.

Comments:

Reference:

HP:0010901

Genes and Diseases:

Child Nodes:

........

Hypermethioninemia (HP:0003235)

........

Decreased methionine synthase activity (HP:0003524)

........

Hypomethioninemia (HP:0003658)

Sister Nodes:

Abnormal circulating cysteine concentration (HP:0010918)

Abnormal circulating homocysteine concentration (HP:0010919)

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:0010901	HP:0010901	Abnormal circulating methionine concentration	0	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type		53
HP:0010901	HP:0010901	Abnormal circulating methionine concentration	0	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency		26
HP:0010901	HP:0010901	Abnormal circulating methionine concentration	0	AHCY CL E G H	191	343	OMIM:613752	HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY		31
HP:0010901	HP:0010901	Abnormal circulating methionine concentration	0	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency	HP:0040281 - Very frequent	31
HP:0010901	HP:0010901	Abnormal circulating methionine concentration	0	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency		242
HP:0010901	HP:0010901	Abnormal circulating methionine concentration	0	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I		107
HP:0010901	HP:0010901	Abnormal circulating methionine concentration	0	GNMT CL E G H	27232	4415	OMIM:606664	GLYCINE N-METHYLTRANSFERASE DEFICIENCY		3
HP:0010901	HP:0010901	Abnormal circulating methionine concentration	0	MAT1A CL E G H	4143	6903	OMIM:250850	METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY		82
HP:0010901	HP:0010901	Abnormal circulating methionine concentration	0	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC		101
HP:0010901	HP:0010901	Abnormal circulating methionine concentration	0	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type		101
HP:0010901	HP:0010901	Abnormal circulating methionine concentration	0	MMADHC CL E G H	27249	25221	OMIM:277410	Methylmalonic aciduria and homocystinuria, Cbld type		50
HP:0010901	HP:0010901	Abnormal circulating methionine concentration	0	MTHFR CL E G H	4524	7436	ORPHA:395	Homocystinuria due to methylene tetrahydrofolate reductase deficiency		183
HP:0010901	HP:0010901	Abnormal circulating methionine concentration	0	MTR CL E G H	4548	7468	OMIM:250940	Homocystinuria-megaloblastic anemia, cblg Complementation type		217
HP:0010901	HP:0010901	Abnormal circulating methionine concentration	0	MTRR CL E G H	4552	7473	OMIM:236270	Homocystinuria-megaloblastic anemia, cbl E type		88
HP:0010901	HP:0010901	Abnormal circulating methionine concentration	0	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE		88
HP:0010901	HP:0010901	Abnormal circulating methionine concentration	0	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type
HP:0010901	HP:0010901	Abnormal circulating methionine concentration	0	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0010901	HP:0010901	Abnormal circulating methionine concentration	0	SLC25A13 CL E G H	10165	10983	OMIM:605814	Citrullinemia, type II, neonatal-onset		82
HP:0010901	HP:0010901	Abnormal circulating methionine concentration	0	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency		82
HP:0010901	HP:0003658	Hypomethioninemia	1	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type		53
HP:0010901	HP:0003235	Hypermethioninemia	1	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency	.	26
HP:0010901	HP:0003235	Hypermethioninemia	1	AHCY CL E G H	191	343	OMIM:613752	HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY	.	31
HP:0010901	HP:0003235	Hypermethioninemia	1	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency	HP:0040283 - Occasional	31
HP:0010901	HP:0003235	Hypermethioninemia	1	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency		242
HP:0010901	HP:0003235	Hypermethioninemia	1	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I	.	107
HP:0010901	HP:0003235	Hypermethioninemia	1	GNMT CL E G H	27232	4415	OMIM:606664	GLYCINE N-METHYLTRANSFERASE DEFICIENCY	.	3
HP:0010901	HP:0003235	Hypermethioninemia	1	MAT1A CL E G H	4143	6903	OMIM:250850	METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY	.	82
HP:0010901	HP:0003658	Hypomethioninemia	1	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040283 - Occasional	101
HP:0010901	HP:0003658	Hypomethioninemia	1	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.	101
HP:0010901	HP:0003658	Hypomethioninemia	1	MMADHC CL E G H	27249	25221	OMIM:277410	Methylmalonic aciduria and homocystinuria, Cbld type	.	50
HP:0010901	HP:0003658	Hypomethioninemia	1	MTHFR CL E G H	4524	7436	ORPHA:395	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	HP:0040282 - Frequent	183
HP:0010901	HP:0003658	Hypomethioninemia	1	MTR CL E G H	4548	7468	OMIM:250940	Homocystinuria-megaloblastic anemia, cblg Complementation type	.	217
HP:0010901	HP:0003658	Hypomethioninemia	1	MTRR CL E G H	4552	7473	OMIM:236270	Homocystinuria-megaloblastic anemia, cbl E type	.	88
HP:0010901	HP:0003658	Hypomethioninemia	1	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE	HP:0040282 - Frequent	88
HP:0010901	HP:0003658	Hypomethioninemia	1	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.
HP:0010901	HP:0003235	Hypermethioninemia	1	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1	.
HP:0010901	HP:0003235	Hypermethioninemia	1	SLC25A13 CL E G H	10165	10983	OMIM:605814	Citrullinemia, type II, neonatal-onset	.	82
HP:0010901	HP:0003235	Hypermethioninemia	1	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency	HP:0040283 - Occasional	82

Genes (15) :ABCD4 ADK AHCY CBS FAH GNMT MAT1A MMACHC MMADHC MTHFR MTR MTRR PRDX1 SKIC3 SLC25A13

Diseases (18) :OMIM:614857 OMIM:614300 OMIM:613752 ORPHA:88618 OMIM:236200 OMIM:276700 OMIM:606664 OMIM:250850 ORPHA:79282 OMIM:277400 OMIM:277410 ORPHA:395 OMIM:250940 OMIM:236270 ORPHA:2169 OMIM:222470 OMIM:605814 ORPHA:247598

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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