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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:methylmalonic acidemia
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Accession:DOID:14749 term browser browse the term
Definition:An organic acidemia that involves an accumulation of methylmalonic acid in the blood. (DO)
Synonyms:exact_synonym: isolated methylmalonic acidemia;   methylmalonic aciduria;   methylmalonicaciduria due to methylmalonic CoA mutase deficiency
 primary_id: MESH:C537358
 xref: GARD:7033;   NCI:C98986
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
methylmalonic acidemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acsf3 acyl-CoA synthetase family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21841779 NCBI chr19:55,594,801...55,635,312
Ensembl chr19:55,594,831...55,635,122
JBrowse link
G Cavin1 caveolae associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16823967 NCBI chr10:88,862,513...88,874,495
Ensembl chr10:88,860,733...88,874,528
JBrowse link
G Crabp2 cellular retinoic acid binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16823967 NCBI chr 2:187,322,416...187,326,794
Ensembl chr 2:184,882,969...184,883,505
JBrowse link
G Cycs cytochrome c, somatic ISO CTD Direct Evidence: marker/mechanism CTD PMID:16823967 NCBI chr 4:80,331,226...80,333,326
Ensembl chr 4:80,331,227...80,333,326
JBrowse link
G Gpd2 glycerol-3-phosphate dehydrogenase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16823967 NCBI chr 3:43,223,892...43,359,069
Ensembl chr 3:43,255,567...43,359,074
JBrowse link
G Mcee methylmalonyl CoA epimerase ISO ClinVar Annotator: match by term: Methylmalonic acidemia ClinVar NCBI chr 1:125,229,487...125,252,692
Ensembl chr 1:125,229,469...125,252,666
JBrowse link
G Mmaa metabolism of cobalamin associated A ISO ClinVar Annotator: match by term: Methylmalonic acidemia ClinVar PMID:12438653, PMID:15308131, PMID:15523652, PMID:15781192, PMID:16247646, PMID:17957493, PMID:20549364, PMID:21048060, PMID:21114891, PMID:21545677, PMID:22614770, PMID:23026888, PMID:23711287, PMID:24033266, PMID:24059531, PMID:24095221, PMID:25525159, PMID:25636100, PMID:25748407, PMID:26270765, PMID:26370686, PMID:27591164, PMID:28492532, PMID:28497574, PMID:30311386 NCBI chr19:32,294,087...32,325,927
Ensembl chr19:32,308,236...32,325,927
JBrowse link
G Mmab metabolism of cobalamin associated B ISO ClinVar Annotator: match by term: Methylmalonic acidemia ClinVar PMID:12471062, PMID:15523652, PMID:15781192, PMID:16311595, PMID:16410054, PMID:16439175, PMID:17410422, PMID:17957493, PMID:19625202, PMID:20301409, PMID:20556797, PMID:20696242, PMID:21048060, PMID:21604717, PMID:22614770, PMID:22695176, PMID:23707710, PMID:24033266, PMID:24059531, PMID:24516753, PMID:24813872, PMID:25525159, PMID:25741868, PMID:26589311, PMID:28492532, PMID:30022420 NCBI chr12:47,920,712...47,935,438
Ensembl chr12:47,920,743...47,935,525
JBrowse link
G Mmut methylmalonyl-CoA mutase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Methylmalonic acidemia
CTD
ClinVar
PMID:1346616, PMID:1351030, PMID:1670635, PMID:1970180, PMID:2661559, PMID:7912889, PMID:8880917, PMID:9285782, PMID:9929975, PMID:10923046, PMID:11350191, PMID:11528502, PMID:12402345, PMID:15643616, PMID:15781192, PMID:15781199, PMID:16281286, PMID:16435223, PMID:16490061, PMID:16823967, PMID:17075691, PMID:17113806, PMID:17410422, PMID:17445044, PMID:17470278, PMID:17957493, PMID:19088183, PMID:19375370, PMID:20549364, PMID:20603089, PMID:21048060, PMID:21114891, PMID:22614770, PMID:22727635, PMID:23024777, PMID:23045948, PMID:23430940, PMID:23479330, PMID:23729607, PMID:24033266, PMID:24059531, PMID:24464670, PMID:25125334, PMID:25299208, PMID:25525159, PMID:25689098, PMID:25741868, PMID:25750861, PMID:25771389, PMID:26270765, PMID:26420839, PMID:26454439, PMID:26615597, PMID:26790480, PMID:27167370, PMID:27233228, PMID:27489777, PMID:27578510, PMID:27591164, PMID:27751223, PMID:28492532, PMID:30311386 NCBI chr 9:23,323,934...23,352,144
Ensembl chr 9:23,323,936...23,352,668
JBrowse link
G Mvk mevalonate kinase ISO ClinVar Annotator: match by term: Methylmalonic acidemia ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr12:47,904,266...47,920,457
Ensembl chr12:47,904,719...47,919,400
JBrowse link
G Septin11 septin 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16823967 NCBI chr14:16,369,544...16,405,645
Ensembl chr14:16,369,544...16,452,998
JBrowse link
G Septin2 septin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16823967 NCBI chr 9:100,624,876...100,658,053
Ensembl chr 9:100,624,876...100,658,050
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16823967 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Suclg2 succinate-CoA ligase GDP-forming subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:16823967 NCBI chr 4:127,552,100...127,824,970
Ensembl chr 4:127,552,101...127,824,970
JBrowse link
methylmalonic acidemia and homocysteinemia cblX type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cenpt centromere protein T ISO ClinVar Annotator: match by term: Mental retardation 3, X-linked ClinVar PMID:25741868 NCBI chr19:37,813,284...37,819,782
Ensembl chr19:37,812,751...37,819,789
JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Mental retardation 3, X-linked
ClinVar Annotator: match by OMIM:309541
OMIM
ClinVar
PMID:1870093, PMID:23000143, PMID:24011988, PMID:25167861, PMID:25281006, PMID:25740848, PMID:25741868, PMID:26893841, PMID:27403441, PMID:28492532 NCBI chr  X:156,812,012...156,837,227
Ensembl chr  X:156,812,064...156,837,227
JBrowse link
G Thap11 THAP domain containing 11 ISO ClinVar Annotator: match by term: Mental retardation 3, X-linked ClinVar PMID:25741868 NCBI chr19:37,825,576...37,827,393
Ensembl chr19:37,825,576...37,827,393
JBrowse link
methylmalonic acidemia cblA type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmaa metabolism of cobalamin associated A ISO ClinVar Annotator: match by term: Methylmalonic acidemia cblA type
ClinVar Annotator: match by term: Methylmalonic aciduria cblA type
OMIM
ClinVar
PMID:12438653, PMID:15308131, PMID:15523652, PMID:15781192, PMID:16247646, PMID:17957493, PMID:20549364, PMID:21048060, PMID:21114891, PMID:21545677, PMID:22614770, PMID:23026888, PMID:23711287, PMID:23716945, PMID:24033266, PMID:24059531, PMID:24095221, PMID:25525159, PMID:25636100, PMID:25741868, PMID:25748407, PMID:26270765, PMID:26370686, PMID:27591164, PMID:27858373, PMID:28492532, PMID:28497574, PMID:30311386 NCBI chr19:32,294,087...32,325,927
Ensembl chr19:32,308,236...32,325,927
JBrowse link
methylmalonic acidemia cblB type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmab metabolism of cobalamin associated B ISO ClinVar Annotator: match by term: Methylmalonic acidemia cblB type
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN, cblB TYPE
ClinVar Annotator: match by term: Methylmalonic aciduria cblB type
OMIM
ClinVar
PMID:12471062, PMID:15044458, PMID:15523652, PMID:15781192, PMID:16311595, PMID:16410054, PMID:16439175, PMID:17176040, PMID:17410422, PMID:17948227, PMID:17957493, PMID:18251506, PMID:18452306, PMID:19625202, PMID:20301409, PMID:20549364, PMID:20556797, PMID:20696242, PMID:21048060, PMID:21604717, PMID:22614770, PMID:22695176, PMID:23674520, PMID:23707710, PMID:24033266, PMID:24059531, PMID:24516753, PMID:24813872, PMID:25525159, PMID:25741868, PMID:25760844, PMID:26589311, PMID:27591164, PMID:28492532, PMID:29039164, PMID:29197662, PMID:30022420 NCBI chr12:47,920,712...47,935,438
Ensembl chr12:47,920,743...47,935,525
JBrowse link
G Mvk mevalonate kinase ISO ClinVar Annotator: match by term: Methylmalonic aciduria cblB type
ClinVar Annotator: match by term: Methylmalonic acidemia cblB type
ClinVar PMID:23707710, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr12:47,904,266...47,920,457
Ensembl chr12:47,904,719...47,919,400
JBrowse link
methylmalonic acidemia due to transcobalamin receptor defect term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd320 CD320 molecule ISO ClinVar Annotator: match by term: Methylmalonic aciduria due to transcobalamin receptor defect OMIM
ClinVar
PMID:25741868, PMID:28492532 NCBI chr 7:18,700,445...18,706,244
Ensembl chr 7:18,700,344...18,706,244
JBrowse link
methylmalonic aciduria and homocystinuria type cblC term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcdc2c doublecortin domain containing 2C ISO ClinVar Annotator: match by term: Methylmalonic acidemia with homocystinuria ClinVar PMID:25741868 NCBI chr 6:47,737,814...47,812,219
Ensembl chr 6:47,774,060...47,848,075
JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Methylmalonic acidemia with homocystinuria ClinVar PMID:24011988, PMID:25167861, PMID:25281006, PMID:25741868, PMID:26893841, PMID:27403441 NCBI chr  X:156,812,012...156,837,227
Ensembl chr  X:156,812,064...156,837,227
JBrowse link
G Mmachc metabolism of cobalamin associated C ISO ClinVar Annotator: match by term: Methylmalonic acidemia with homocystinuria
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC
ClinVar Annotator: match by OMIM:277400
OMIM
ClinVar
CTD
PMID:11261516, PMID:11320193, PMID:16311595, PMID:16714133, PMID:17431913, PMID:17768669, PMID:17853453, PMID:18164228, PMID:18245139, PMID:19370762, PMID:19700356, PMID:19760748, PMID:19767224, PMID:19914430, PMID:20219402, PMID:20549364, PMID:20610126, PMID:20631720, PMID:20652818, PMID:20924684, PMID:21055272, PMID:21114891, PMID:21228398, PMID:21748409, PMID:21835369, PMID:22447314, PMID:22560872, PMID:22642810, PMID:23580368, PMID:23757202, PMID:23825108, PMID:23837176, PMID:23954310, PMID:24033266, PMID:24126030, PMID:24210589, PMID:24577983, PMID:24599607, PMID:25388550, PMID:25398587, PMID:25511120, PMID:25672861, PMID:25687216, PMID:25689098, PMID:25741868, PMID:25772322, PMID:25809485, PMID:25894566, PMID:26149271, PMID:26270766, PMID:26283149, PMID:26287336, PMID:26412180, PMID:26563984, PMID:26658511, PMID:26825575, PMID:26979128, PMID:26990548, PMID:27252276, PMID:27383490, PMID:27751223, PMID:28151490, PMID:28218226, PMID:28327205, PMID:28454995, PMID:28492532, PMID:28693988, PMID:29042959, PMID:29294253, PMID:29379858, PMID:29396438, PMID:30157807, PMID:32164588 NCBI chr 5:135,555,587...135,561,723
Ensembl chr 5:135,555,565...135,561,914
JBrowse link
G Prdx1 peroxiredoxin 1 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC ClinVar
OMIM
PMID:29396438 NCBI chr 5:135,536,413...135,551,986
Ensembl chr 5:135,536,413...135,551,990
JBrowse link
methylmalonic aciduria and homocystinuria type cblD term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmadhc metabolism of cobalamin associated D ISO ClinVar Annotator: match by term: Methylmalonic acidemia with homocystinuria cblD
ClinVar Annotator: match by term: METHYLMALONIC ACIDEMIA, cblH TYPE
ClinVar Annotator: match by OMIM:277410
ClinVar Annotator: match by synonym: Methylmalonic aciduria, cblD type, variant 2
OMIM
ClinVar
PMID:5524089, PMID:15292234, PMID:18385497, PMID:19058814, PMID:22156578, PMID:24033266, PMID:25741868, PMID:27252276, PMID:28492532, PMID:28939051, PMID:29620684 NCBI chr 3:35,783,511...35,801,474
Ensembl chr 3:35,783,623...35,801,614
JBrowse link
methylmalonic aciduria and homocystinuria type cblF term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmbrd1 LMBR1 domain containing 1 ISO ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblF
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE
OMIM
ClinVar
CTD
PMID:19136951, PMID:21303734, PMID:22922874, PMID:23776111, PMID:24664876, PMID:25047945, PMID:25741868, PMID:26997947, PMID:28492532 NCBI chr 9:30,939,555...31,038,381
Ensembl chr 9:30,939,555...31,038,379
JBrowse link
methylmalonic aciduria and homocystinuria type cblG term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO ClinVar Annotator: match by term: Methylcobalamin deficiency type cblG
ClinVar Annotator: match by term: METHYLCOBALAMIN DEFICIENCY, cblG TYPE
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:250940
OMIM
ClinVar
PMID:8968736, PMID:8968737, PMID:9235907, PMID:9683607, PMID:12068375, PMID:20890936, PMID:21615938, PMID:22887477, PMID:25526710, PMID:25558065, PMID:25741868, PMID:25856670, PMID:26198278, PMID:28210839, PMID:28492532, PMID:28666289, PMID:32581362 NCBI chr17:66,210,444...66,295,014
Ensembl chr17:66,210,461...66,295,014
JBrowse link
Methylmalonic Aciduria and Homocystinuria, cblJ Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd4 ATP binding cassette subfamily D member 4 ISO ClinVar Annotator: match by OMIM:614857
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE
OMIM
ClinVar
PMID:22922874, PMID:25741868, PMID:28492532 NCBI chr 6:108,315,026...108,329,550
Ensembl chr 6:108,315,035...108,329,464
JBrowse link
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Man2b1 mannosidase, alpha, class 2B, member 1 ISO ClinVar Annotator: match by term: Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ClinVar NCBI chr19:26,196,797...26,216,981
Ensembl chr19:26,196,837...26,216,267
JBrowse link
G Mmachc metabolism of cobalamin associated C ISO ClinVar Annotator: match by term: Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ClinVar PMID:11320193, PMID:16311595, PMID:16714133, PMID:17431913, PMID:17853453, PMID:18164228, PMID:19370762, PMID:19700356, PMID:19760748, PMID:20219402, PMID:20631720, PMID:21055272, PMID:21748409, PMID:22560872, PMID:23825108, PMID:24577983, PMID:25398587, PMID:25511120, PMID:25687216, PMID:25741868, PMID:25809485, PMID:26149271, PMID:26283149, PMID:26563984, PMID:26658511, PMID:28218226, PMID:28492532 NCBI chr 5:135,555,587...135,561,723
Ensembl chr 5:135,555,565...135,561,914
JBrowse link
G Mmut methylmalonyl-CoA mutase treatment ISO ClinVar Annotator: match by term: Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA, mut(-) TYPE
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA, mut(0) TYPE
DNA:mutations:multiple:
ClinVar Annotator: match by OMIM:251000
OMIM
ClinVar
PMID:1346616, PMID:1351030, PMID:1670635, PMID:1970180, PMID:1977311, PMID:2453061, PMID:2661559, PMID:2881300, PMID:7602808, PMID:7627195, PMID:7909321, PMID:7912889, PMID:7951229, PMID:8880917, PMID:9285782, PMID:9554742, PMID:9929975, PMID:10923046, PMID:11350191, PMID:11528502, PMID:12402345, PMID:15643616, PMID:15781192, PMID:15781199, PMID:16281286, PMID:16435223, PMID:16451139, PMID:16490061, PMID:17075691, PMID:17113806, PMID:17410422, PMID:17432548, PMID:17445044, PMID:17470278, PMID:17948227, PMID:17957493, PMID:17966092, PMID:19088183, PMID:19375370, PMID:19862841, PMID:19955418, PMID:20301409, PMID:20549364, PMID:20603089, PMID:21048060, PMID:21114891, PMID:21671183, PMID:22614770, PMID:22695176, PMID:22727635, PMID:23024777, PMID:23045948, PMID:23430940, PMID:23479330, PMID:23729607, PMID:24033266, PMID:24059531, PMID:24330302, PMID:24464670, PMID:24865477, PMID:25125334, PMID:25299208, PMID:25525159, PMID:25689098, PMID:25736335, PMID:25741868, PMID:25750861, PMID:25771389, PMID:25959030, PMID:26174677, PMID:26270765, PMID:26420839, PMID:26449400, PMID:26454439, PMID:26483233, PMID:26615597, PMID:26790480, PMID:27060300, PMID:27167370, PMID:27233228, PMID:27489777, PMID:27578510, PMID:27591164, PMID:27602322, PMID:27751223, PMID:28101778, PMID:28492532, PMID:28811685, PMID:30022420, PMID:30311386, PMID:19861951, PMID:17937813, PMID:27167370 RGD:13208535, RGD:13208534, RGD:11526224 NCBI chr 9:23,323,934...23,352,144
Ensembl chr 9:23,323,936...23,352,668
JBrowse link
G Pex16 peroxisomal biogenesis factor 16 ISO ClinVar Annotator: match by term: Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ClinVar PMID:25741868 NCBI chr 3:81,283,137...81,292,575
Ensembl chr 3:81,283,137...81,292,573
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Nutritional and Metabolic Diseases 4727
      disease of metabolism 4727
        inherited metabolic disorder 2237
          amino acid metabolic disorder 433
            methylmalonic acidemia 27
              Methylmalonic Aciduria and Homocystinuria, cblJ Type 1
              methylmalonic acidemia and homocysteinemia cblX type 3
              methylmalonic acidemia cblA type 1
              methylmalonic acidemia cblB type 2
              methylmalonic acidemia due to transcobalamin receptor defect 1
              methylmalonic aciduria and homocystinuria type cblC 4
              methylmalonic aciduria and homocystinuria type cblD 1
              methylmalonic aciduria and homocystinuria type cblE 0
              methylmalonic aciduria and homocystinuria type cblF 1
              methylmalonic aciduria and homocystinuria type cblG 1
              methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 4
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          inherited metabolic disorder 2237
            amino acid metabolic disorder 433
              organic acidemia 54
                methylmalonic acidemia 27
                  Methylmalonic Aciduria and Homocystinuria, cblJ Type 1
                  methylmalonic acidemia and homocysteinemia cblX type 3
                  methylmalonic acidemia cblA type 1
                  methylmalonic acidemia cblB type 2
                  methylmalonic acidemia due to transcobalamin receptor defect 1
                  methylmalonic aciduria and homocystinuria type cblC 4
                  methylmalonic aciduria and homocystinuria type cblD 1
                  methylmalonic aciduria and homocystinuria type cblE 0
                  methylmalonic aciduria and homocystinuria type cblF 1
                  methylmalonic aciduria and homocystinuria type cblG 1
                  methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 4
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.