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Details
Link-It Detail - Disease - 3 Methylcrotonyl-CoA carboxylase deficiency
Debug Stats
  • ### Total Build Time: 30 ms 6.707 KB
  • CONCEPT_NAME gt=9 ms Completed: 9 ms rowSize= 384 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 512 bytes
  • Skipping details on: CONCEPT_SYNONYM gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_SEMANTIC_TYPE gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 7 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 15 bytes
  • CONCEPT_RELATIONSHIPS gt=4 ms Completed: 4 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=12 ms Completed: 12 ms rowSize= 4.481 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.177 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
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Disease (1)
3 Methylcrotonyl-CoA carboxylase deficiency C0268600
Definition (1)
An autosomal recessive inherited disorder caused by mutations in the MCCC1 or MCCC2 genes. It is characterized by a deficiency in an enzyme that is involved in the metabolism of proteins that contain leucine. Signs and symptoms range from mild to severe and include feeding difficulties, vomiting, diarrhea, developmental delays, lethargy, seizures and coma.
Genes (2)

Species:
human : 2
SpeciesGeneGeneIdGene NameEvidence
HumanMCCC264087methylcrotonoyl-CoA carboxylase 2 (beta)
img GENERIF, Score=734, Pubmed Id: 17968484, UMLKSK CUI: C0268600
img OMIM, Score=926, UMLKSK CUI: C0268600
img GENERIF, Score=1000, Pubmed Id: 16010683, UMLKSK CUI: C0268600
HumanMCCC156922methylcrotonoyl-CoA carboxylase 1 (alpha)
img GENERIF, Score=1000, Pubmed Id: 16010683, UMLKSK CUI: C0268600
img GENERIF, Score=734, Pubmed Id: 17968484, UMLKSK CUI: C0268600
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C02686003 Methylcrotonyl-CoA carboxylase deficiency0self