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ONTOLOGY REPORT - ANNOTATIONS


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
 primary_id: RDO:9004917
 xref: GARD:10954;   OMIM:PS210200;   ORDO:6
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3-Methylcrotonyl-CoA carboxylase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mccc1 methylcrotonoyl-CoA carboxylase 1 JBrowse link 2 122,550,777 122,690,540 RGD:8554872
G Mccc2 methylcrotonoyl-CoA carboxylase 2 JBrowse link 2 30,175,017 30,246,028 RGD:8554872
3-Methylcrotonyl-CoA carboxylase 1 deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mccc1 methylcrotonoyl-CoA carboxylase 1 JBrowse link 2 122,550,777 122,690,540 RGD:7240710
RGD:8554872
3-Methylcrotonyl-CoA carboxylase 2 deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mccc2 methylcrotonoyl-CoA carboxylase 2 JBrowse link 2 30,175,017 30,246,028 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15599
    disease of anatomical entity 14927
      musculoskeletal system disease 4256
        muscular disease 941
          muscle tissue disease 668
            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 15599
    disease of anatomical entity 0
      nervous system disease 10203
        central nervous system disease 8080
          brain disease 7549
            Metabolic Brain Diseases 471
              Metabolic Brain Diseases, Inborn 406
                urea cycle disorder 15
                  3-Methylcrotonyl-CoA carboxylase deficiency 2
                    3-Methylcrotonyl-CoA carboxylase 1 deficiency 1
                    3-Methylcrotonyl-CoA carboxylase 2 deficiency 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.