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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:3-Methylcrotonyl-CoA carboxylase deficiency
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Accession:DOID:0050710 term browser browse the term
Definition:An amino acid metabolic disorder that is classified by inadequate levels of the enzyme 3-methylcrotonyl-CoA carboxylase that helps break down proteins containing the amino acid leucine. This disease has_symptom muscular hypotonia (weak muscle tone), has_symptom muscular atrophy, has_symptom feeding difficulties, has_symptom recurrent episodes of vomiting and diarrhea, and has_symptom lethargy. (DO)
Synonyms:exact_synonym: 3-MCC deficiency;   3-Methylcrotonyl-Coenzyme A carboxylase deficiency;   3-Methylcrotonylglycinuria;   3MCC deficiency;   BMCC deficiency;   Deficiency of Methylcrotonoyl-Coa Carboxylase;   MCC deficiency;   Methylcrotonyl-Coa carboxylase deficiency
 xref: GARD:10954;   NCI:C98674;   OMIM:PS210200;   ORDO:6
For additional species annotation, visit the Alliance of Genome Resources.


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3-Methylcrotonyl-CoA carboxylase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mccc1 methylcrotonoyl-CoA carboxylase 1 ISO ClinVar Annotator: match by term: 3-MCC Deficiency
ClinVar Annotator: match by term: Methylcrotonyl-CoA carboxylase deficiency
ClinVar PMID:11170888, PMID:14680978, PMID:24033266, PMID:25356967, PMID:25741868, PMID:28492532 NCBI chr 2:122,550,777...122,690,540
Ensembl chr 2:122,550,775...122,690,617
JBrowse link
G Mccc2 methylcrotonoyl-CoA carboxylase 2 ISO ClinVar Annotator: match by term: 3-MCC Deficiency ClinVar NCBI chr 2:30,175,017...30,246,028
Ensembl chr 2:30,175,018...30,246,010
JBrowse link
3-Methylcrotonyl-CoA carboxylase 1 deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mccc1 methylcrotonoyl-CoA carboxylase 1 ISO ClinVar Annotator: match by term: 3 Methylcrotonyl-CoA carboxylase 1 deficiency
ClinVar Annotator: match by term: Methylcrotonyl-CoA carboxylase deficiency
ClinVar Annotator: match by term: 3-MCC Deficiency
ClinVar Annotator: match by OMIM:210200
OMIM
ClinVar
PMID:9187484, PMID:10485305, PMID:11170888, PMID:11181649, PMID:11406611, PMID:14680978, PMID:15359379, PMID:15868465, PMID:16010683, PMID:16835865, PMID:17968484, PMID:19339287, PMID:21071250, PMID:22150417, PMID:22264772, PMID:22642865, PMID:24033266, PMID:24078573, PMID:25356967, PMID:25382614, PMID:25741868, PMID:26566957, PMID:27577216, PMID:27601257, PMID:28492532 NCBI chr 2:122,550,777...122,690,540
Ensembl chr 2:122,550,775...122,690,617
JBrowse link
3-Methylcrotonyl-CoA carboxylase 2 deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mccc2 methylcrotonoyl-CoA carboxylase 2 ISO ClinVar Annotator: match by OMIM:210210
ClinVar Annotator: match by term: 3-methylcrotonyl CoA carboxylase 2 deficiency
OMIM
ClinVar
PMID:1293382, PMID:7128647, PMID:8598650, PMID:9544913, PMID:11170888, PMID:11181649, PMID:11406611, PMID:14680978, PMID:15877210, PMID:16010683, PMID:16835865, PMID:17908719, PMID:17968484, PMID:20818363, PMID:20818383, PMID:21071250, PMID:22030835, PMID:22150417, PMID:22264772, PMID:22642865, PMID:25087612, PMID:25356967, PMID:25741868, PMID:26566957, PMID:26764160, PMID:27033733, PMID:27601257, PMID:28018443, PMID:28492532 NCBI chr 2:30,175,017...30,246,028
Ensembl chr 2:30,175,018...30,246,010
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      musculoskeletal system disease 5715
        muscular disease 1196
          muscle tissue disease 809
            3-Methylcrotonyl-CoA carboxylase deficiency 2
              3-Methylcrotonyl-CoA carboxylase 1 deficiency 1
              3-Methylcrotonyl-CoA carboxylase 2 deficiency 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        central nervous system disease 9008
          brain disease 8330
            Metabolic Brain Diseases 574
              Metabolic Brain Diseases, Inborn 503
                urea cycle disorder 44
                  3-Methylcrotonyl-CoA carboxylase deficiency 2
                    3-Methylcrotonyl-CoA carboxylase 1 deficiency 1
                    3-Methylcrotonyl-CoA carboxylase 2 deficiency 1
paths to the root

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