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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 aciduria and homocystinuria type cblC
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Accession:DOID:0050715 term browser browse the term
Definition:A methylmalonic acidemia that has_material_basis_in deficiency in synthesis of both AdoCbl and MeCbl (cblC) and is characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase. (DO)
Synonyms:exact_synonym: Cobalamin C deficiency;   MAHCC;   cobalamin-C methylmalonic acidemia and homocystinuria;   methylmalonic acidemia and homocystinuria, cblC type;   methylmalonic aciduria and homocystinuria, vitamin B12-responsive;   methylmalonic aciduria with homocystinuria, cblC type;   vitamin B12 metabolic defect with combined deficiency of methylmalonyl-CoA mutase and homocysteine:methyltetrahydrofolate methyltransferase
 narrow_synonym: methylmalonic Acidemia with Homocystinuria;   methylmalonic acidemia and homocystinemia;   methylmalonic aciduria with homocystinuria, cblC type, digenic
 primary_id: MESH:C537359
 alt_id: MIM:277400
 xref: NCI:C142174


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methylmalonic aciduria and homocystinuria type cblC term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd4 ATP binding cassette subfamily D member 4 ISO ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC ClinVar PMID:22922874 PMID:23141461 PMID:25234635 PMID:25741868 PMID:28492532 More... NCBI chrNW_004624734:27,309,280...27,324,658
Ensembl chrNW_004624734:27,309,184...27,327,200
JBrowse link
G Dcdc2c doublecortin domain containing 2C ISO ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC ClinVar PMID:25741868 NCBI chrNW_004624846:5,123,283...5,160,333
Ensembl chrNW_004624846:5,124,583...5,160,333
JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Vitamin B12 metabolic defect with combined deficiency of methylmalonyl-CoA mutase and homocysteine:methyltetrahydrofolate methyltransferase ClinVar PMID:24011988 PMID:25167861 PMID:25281006 PMID:25741868 PMID:26893841 More... NCBI chrNW_004624946:571,776...591,543
Ensembl chrNW_004624946:571,774...590,247
JBrowse link
G Lmbrd1 LMBR1 domain containing 1 ISO ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC ClinVar PMID:19136951 PMID:21303734 PMID:23776111 PMID:24664876 PMID:25741868 More... NCBI chrNW_004624753:27,283,570...27,423,118
Ensembl chrNW_004624753:27,283,871...27,375,897
JBrowse link
G Mmachc metabolism of cobalamin associated C ISO ClinVar Annotator: match by term: Cobalamin-C methylmalonic acidemia and homocystinuria | ClinVar Annotator: match by term: Methylmalonic acidemia and homocystinuria cblC type | ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria, Vitamin B12-responsive | ClinVar Annotator: match by term: Methylmalonic aciduria with homocystinuria cblC type | ClinVar Annotator: match by term: Vitamin B12 metabolic defect with combined deficiency of methylmalonyl-CoA mutase and homocysteine:methyltetrahydrofolate methyltransferase | ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC OMIM
ClinVar
PMID:9536098 PMID:11261516 PMID:11320193 PMID:14568819 PMID:16199547 More... NCBI chrNW_004624906:1,398,666...1,404,709
Ensembl chrNW_004624906:1,398,724...1,409,311
JBrowse link
G Mmadhc metabolism of cobalamin associated D ISO ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC ClinVar PMID:16199547 PMID:18385497 PMID:22156578 PMID:25155779 PMID:25741868 More... NCBI chrNW_004624866:2,314,864...2,342,069
Ensembl chrNW_004624866:2,314,864...2,342,079
JBrowse link
G Prdx1 peroxiredoxin 1 ISO ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria, Vitamin B12-responsive | ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC ClinVar
OMIM
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29302025 More... NCBI chrNW_004624906:1,405,253...1,414,980
Ensembl chrNW_004624906:1,405,253...1,414,926
JBrowse link
G Slc46a1 solute carrier family 46 member 1 ISO ClinVar Annotator: match by term: Methylmalonic acidemia and homocystinuria cblC type ClinVar PMID:21602279 PMID:24534056 NCBI chrNW_004624786:1,000,444...1,006,984
Ensembl chrNW_004624786:1,000,444...1,007,375
JBrowse link
G Thap11 THAP domain containing 11 ISO OMIM:277400 MouseDO NCBI chrNW_004624746:18,527,396...18,530,145
Ensembl chrNW_004624746:18,511,684...18,530,149
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14093
    Nutritional and Metabolic Diseases 6693
      disease of metabolism 6693
        inherited metabolic disorder 5181
          vitamin metabolic disorder 50
            vitamin B12 deficiency 31
              methylmalonic aciduria and homocystinuria type cblC 9
Path 2
Term Annotations click to browse term
  disease 14093
    Nutritional and Metabolic Diseases 6693
      disease of metabolism 6693
        acquired metabolic disease 2057
          nutrition disease 753
            Malnutrition 231
              nutritional deficiency disease 215
                Avitaminosis 180
                  Vitamin B Deficiency 135
                    hyperhomocysteinemia 106
                      homocystinuria 77
                        Methylmalonic Aciduria and Homocystinuria 20
                          methylmalonic aciduria and homocystinuria type cblC 9
paths to the root