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 aspartate family amino acid concentration (HP:0010899)

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

Parent Node:
Abnormal circulating methionine concentration (HP:0010901)

..Starting node
..Decreased methionine synthase activity (HP:0003524)

Term ID:

3524

Name:

Decreased methionine synthase activity

Synonym:

Decreased activity of methionine synthase; Methionine synthase activity decreased; Methionine synthase deficiency; Reduced methionine synthase activity

Definition:

A reduction in methionine synthase activity.

Comments:

Reference:

HP:0003524

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hypermethioninemia (HP:0003235)

Hypomethioninemia (HP:0003658)

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:0003524	HP:0003524	Decreased methionine synthase activity	0	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type	HP:0040283 - Occasional	53
HP:0003524	HP:0003524	Decreased methionine synthase activity	0	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type	.	46
HP:0003524	HP:0003524	Decreased methionine synthase activity	0	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.	101
HP:0003524	HP:0003524	Decreased methionine synthase activity	0	MMADHC CL E G H	27249	25221	OMIM:277410	Methylmalonic aciduria and homocystinuria, Cbld type	.	50
HP:0003524	HP:0003524	Decreased methionine synthase activity	0	MTR CL E G H	4548	7468	OMIM:250940	Homocystinuria-megaloblastic anemia, cblg Complementation type	.	217
HP:0003524	HP:0003524	Decreased methionine synthase activity	0	MTRR CL E G H	4552	7473	OMIM:236270	Homocystinuria-megaloblastic anemia, cbl E type	.	88
HP:0003524	HP:0003524	Decreased methionine synthase activity	0	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.

Genes (7) :ABCD4 LMBRD1 MMACHC MMADHC MTR MTRR PRDX1

Diseases (6) :OMIM:614857 OMIM:277380 OMIM:277400 OMIM:277410 OMIM:250940 OMIM:236270

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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