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 metabolism/homeostasis (HP:0001939)

Parent Node:
Abnormality of Krebs cycle metabolism (HP:0000816)

..Starting node
..Decreased methylmalonyl-CoA mutase activity (HP:0003210)

Term ID:

3210

Name:

Decreased methylmalonyl-CoA mutase activity

Synonym:

Decreased methylmalonyl CoA mutase activity

Definition:

An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of methylmalonyl-CoA mutase activity.

Comments:

Reference:

HP:0003210

Genes and Diseases:

Child Nodes:

Sister Nodes:

Decreased fumarate hydratase activity (HP:0003536)

Decreased pyruvate carboxylase activity (HP:0003209)

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:0003210	HP:0003210	Decreased methylmalonyl-CoA mutase activity	0	MMAA CL E G H	166785	18871	OMIM:251100	Methylmalonic aciduria, Cbla type	.	113
HP:0003210	HP:0003210	Decreased methylmalonyl-CoA mutase activity	0	MMAB CL E G H	326625	19331	OMIM:251110	Methylmalonic aciduria, Cblb type	.	127
HP:0003210	HP:0003210	Decreased methylmalonyl-CoA mutase activity	0	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.	101
HP:0003210	HP:0003210	Decreased methylmalonyl-CoA mutase activity	0	MMADHC CL E G H	27249	25221	OMIM:277410	Methylmalonic aciduria and homocystinuria, Cbld type	.	50
HP:0003210	HP:0003210	Decreased methylmalonyl-CoA mutase activity	0	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.

Genes (5) :MMAA MMAB MMACHC MMADHC PRDX1

Diseases (4) :OMIM:251100 OMIM:251110 OMIM:277400 OMIM:277410

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.