Human Phenotype Ontology 
Grandparent Node:
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Abnormal circulating dicarboxylic acid concentration (HP:0010995)help
Grandparent Node:
expand
Organic aciduria (HP:0001992)help
Parent Node:
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Dicarboxylic aciduria (HP:0003215)help
..Starting node
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Methylmalonic aciduria (HP:0012120)help
Term ID: 12120
Name: Methylmalonic aciduria
Synonym: High blood methylmalonic acid levels; Methymalonicaciduria
Definition: Increased concentration of methylmalonic acid in the urine.
Comments:
Reference: HP:0012120
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expand3-hydroxydicarboxylic aciduria (HP:0008160) help
..expandD-2-hydroxyglutaric aciduria (HP:0012321) help
..expandEthylmalonic aciduria (HP:0003219) help
..expandGlutaric aciduria (HP:0003150) help
..expandIncreased level of 3-hydroxy-3-methylglutaric acid in urine (HP:0410051) help
..expandL-2-hydroxyglutaric aciduria (HP:0040144) help
..expandLong-chain dicarboxylic aciduria (HP:0008293) help
..expandMedium chain dicarboxylic aciduria (HP:0008309) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012120HP:0012120Methylmalonic aciduria0ABCD4 CL E G H582668OMIM:614857Methylmalonic aciduria and homocystinuria, Cblj type.53
HP:0012120HP:0012120Methylmalonic aciduria0ACSF3 CL E G H19732227288ORPHA:289504Combined malonic and methylmalonic acidemiaHP:0040281 - Very frequent68
HP:0012120HP:0012120Methylmalonic aciduria0ACSF3 CL E G H19732227288OMIM:614265Combined malonic and methylmalonic aciduria68
HP:0012120HP:0012120Methylmalonic aciduria0CD320 CL E G H5129316692OMIM:613646METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT16
HP:0012120HP:0012120Methylmalonic aciduria0HCFC1 CL E G H30544839OMIM:309541Methylmalonic acidemia and homocysteinemia, Cblx type.100
HP:0012120HP:0012120Methylmalonic aciduria0LMBRD1 CL E G H5578823038ORPHA:79284Methylmalonic acidemia with homocystinuria type cblFHP:0040281 - Very frequent46
HP:0012120HP:0012120Methylmalonic aciduria0LMBRD1 CL E G H5578823038OMIM:277380Methylmalonic aciduria and homocystinuria, Cblf type.46
HP:0012120HP:0012120Methylmalonic aciduria0MCEE CL E G H8469316732OMIM:251120Methylmalonyl-Coa epimerase deficiency.19
HP:0012120HP:0012120Methylmalonic aciduria0MLYCD CL E G H234177150OMIM:248360Malonyl-CoA decarboxylase deficiency80
HP:0012120HP:0012120Methylmalonic aciduria0MMAA CL E G H16678518871OMIM:251100Methylmalonic aciduria, Cbla type.113
HP:0012120HP:0012120Methylmalonic aciduria0MMAB CL E G H32662519331OMIM:251110Methylmalonic aciduria, Cblb type.127
HP:0012120HP:0012120Methylmalonic aciduria0MMACHC CL E G H2597424525ORPHA:79282Methylmalonic acidemia with homocystinuria, type cblCHP:0040281 - Very frequent101
HP:0012120HP:0012120Methylmalonic aciduria0MMACHC CL E G H2597424525OMIM:277400Methylmalonic aciduria and homocystinuria, Cblc type.101
HP:0012120HP:0012120Methylmalonic aciduria0MMADHC CL E G H2724925221OMIM:277410Methylmalonic aciduria and homocystinuria, Cbld type.50
HP:0012120HP:0012120Methylmalonic aciduria0MMUT CL E G H45947526OMIM:251000Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency.
HP:0012120HP:0012120Methylmalonic aciduria0PRDX1 CL E G H50529352OMIM:277400Methylmalonic aciduria and homocystinuria, Cblc type.
HP:0012120HP:0012120Methylmalonic aciduria0SUCLA2 CL E G H880311448OMIM:612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria).66
HP:0012120HP:0012120Methylmalonic aciduria0SUCLA2 CL E G H880311448ORPHA:1933Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduriaHP:0040281 - Very frequent66
HP:0012120HP:0012120Methylmalonic aciduria0SUCLG1 CL E G H880211449ORPHA:17Fatal infantile lactic acidosis with methylmalonic aciduriaHP:0040280 - Obligate60
HP:0012120HP:0012120Methylmalonic aciduria0SUCLG1 CL E G H880211449OMIM:245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)60
HP:0012120HP:0012120Methylmalonic aciduria0TCN2 CL E G H694811653ORPHA:859Transcobalamin deficiencyHP:0040281 - Very frequent57
HP:0012120HP:0012120Methylmalonic aciduria0TCN2 CL E G H694811653OMIM:275350Transcobalamin II deficiency.57


Genes (16) :ABCD4 ACSF3 CD320 HCFC1 LMBRD1 MCEE MLYCD MMAA MMAB MMACHC MMADHC MMUT PRDX1 SUCLA2 SUCLG1 TCN2

Diseases (21) :OMIM:614857 ORPHA:289504 OMIM:614265 OMIM:613646 OMIM:309541 ORPHA:79284 OMIM:277380 OMIM:251120 OMIM:248360 OMIM:251100 OMIM:251110 ORPHA:79282 OMIM:277400 OMIM:277410 OMIM:251000 OMIM:612073 ORPHA:1933 ORPHA:17 OMIM:245400 ORPHA:859 OMIM:275350
 

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