Human Phenotype Ontology 
Grandparent Node:
expandAbnormality of acid-base homeostasis (HP:0004360)help
Parent Node:
expandAbnormal circulating dicarboxylic acid concentration (HP:0010995)help
Parent Node:
expandAbnormality of vitamin B12 metabolism (HP:0004341)help
Parent Node:
expandAcidosis (HP:0001941)help
..Starting node
..expandMethylmalonic acidemia (HP:0002912)help
Term ID: 2912
Name: Methylmalonic acidemia
Synonym: Elevated circulating methylmalonic acid concentration
Definition: Increased concentration of methylmalonic acid in the blood.
Comments:
Reference: HP:0002912
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandChronic acidosis (HP:0012468) help
..expandDicarboxylic acidemia (HP:0040145) help
..expandElevated circulating glutaric acid concentration (HP:0003530) help
..expandHyperchloremic acidosis (HP:0001995) help
..expandIncreased serum lactate (HP:0002151) help
..expandKetoacidosis (HP:0001993) help
..expandLactic acidosis (HP:0003128) help
..expandMetabolic acidosis (HP:0001942) help
..expandOroticaciduria (HP:0003218) help
..expandPhenylpyruvic acidemia (HP:0004920) help
..expandPropionic acidemia (HP:0003571) help
..expandRenal tubular acidosis (HP:0001947) help
..expandRespiratory acidosis (HP:0005972) 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:0002912HP:0002912Methylmalonic acidemia0ABCD4 CL E G H582668OMIM:614857Methylmalonic aciduria and homocystinuria, Cblj type.53
HP:0002912HP:0002912Methylmalonic acidemia0ACSF3 CL E G H19732227288ORPHA:289504Combined malonic and methylmalonic acidemiaHP:0040281 - Very frequent68
HP:0002912HP:0002912Methylmalonic acidemia0CD320 CL E G H5129316692OMIM:613646METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT16
HP:0002912HP:0002912Methylmalonic acidemia0HCFC1 CL E G H30544839OMIM:309541Methylmalonic acidemia and homocysteinemia, Cblx type.100
HP:0002912HP:0002912Methylmalonic acidemia0LMBRD1 CL E G H5578823038OMIM:277380Methylmalonic aciduria and homocystinuria, Cblf type.46
HP:0002912HP:0002912Methylmalonic acidemia0MMAA CL E G H16678518871OMIM:251100Methylmalonic aciduria, Cbla type.113
HP:0002912HP:0002912Methylmalonic acidemia0MMAB CL E G H32662519331OMIM:251110Methylmalonic aciduria, Cblb type.127
HP:0002912HP:0002912Methylmalonic acidemia0MMACHC CL E G H2597424525ORPHA:79282Methylmalonic acidemia with homocystinuria, type cblCHP:0040281 - Very frequent101
HP:0002912HP:0002912Methylmalonic acidemia0MMACHC CL E G H2597424525OMIM:277400Methylmalonic aciduria and homocystinuria, Cblc type.101
HP:0002912HP:0002912Methylmalonic acidemia0MMADHC CL E G H2724925221OMIM:277410Methylmalonic aciduria and homocystinuria, Cbld type.50
HP:0002912HP:0002912Methylmalonic acidemia0MMUT CL E G H45947526OMIM:251000Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency.
HP:0002912HP:0002912Methylmalonic acidemia0PRDX1 CL E G H50529352OMIM:277400Methylmalonic aciduria and homocystinuria, Cblc type.
HP:0002912HP:0002912Methylmalonic acidemia0SUCLA2 CL E G H880311448OMIM:612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria).66
HP:0002912HP:0002912Methylmalonic acidemia0SUCLG1 CL E G H880211449ORPHA:17Fatal infantile lactic acidosis with methylmalonic aciduriaHP:0040280 - Obligate60


Genes (13) :ABCD4 ACSF3 CD320 HCFC1 LMBRD1 MMAA MMAB MMACHC MMADHC MMUT PRDX1 SUCLA2 SUCLG1

Diseases (13) :OMIM:614857 ORPHA:289504 OMIM:613646 OMIM:309541 OMIM:277380 OMIM:251100 OMIM:251110 ORPHA:79282 OMIM:277400 OMIM:277410 OMIM:251000 OMIM:612073 ORPHA:17
 

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