3MCC
MCID: 3MT001
MIFTS: 29

3-Methylcrotonyl-Coa Carboxylase Deficiency (3MCC) malady

Summaries for 3-Methylcrotonyl-Coa Carboxylase Deficiency

Sources:
8Disease Ontology, 47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
Disease Ontology:8 An amino acid metabolic disorder that has material basis in mutations in the mccc1 and mccc2 genes causing 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.

MalaCards: 3-Methylcrotonyl-Coa Carboxylase Deficiency, also known as 3-methylcrotonylglycinuria, is related to 3 methylcrotonyl-coa carboxylase 1 deficiency and biotin deficiency, and has symptoms including muscular hypotonia (weak muscle tone), muscular atrophy and feeding difficulties. An important gene associated with 3-Methylcrotonyl-Coa Carboxylase Deficiency is MCCC1 (methylcrotonoyl-CoA carboxylase 1 (alpha)), and among its related pathways are Metabolism of vitamins and cofactors and Saturated fatty acid biosynthesis. The compounds (E)-2-Methylglutaconic acid and 3-methylglutaconyl-coa have been mentioned in the context of this disorder.

Description from OMIM:47 210210,210200

Aliases & Classifications for 3-Methylcrotonyl-Coa Carboxylase Deficiency

Sources:
8Disease Ontology, 43NIH Rare Diseases, 61UMLS, 47OMIM
See all sources

Aliases & Descriptions:

3-methylcrotonyl-coa carboxylase deficiency 8 43
3-methylcrotonylglycinuria 8 43
isolated 3-methylcrotonyl-coa carboxylase deficiency 43
3-methylcrotonyl coa carboxylase 1 deficiency 61
3-mcc deficiency 43
bmcc deficiency 8
3mcc deficiency 8
mcc deficiency 43
3mcc 43


External Ids:

Disease Ontology8 DOID:0050710

Related Diseases for 3-Methylcrotonyl-Coa Carboxylase Deficiency

Sources:
17GeneCards, 18GeneDecks
See all sources

Graphical network of the top 20 diseases related to 3-Methylcrotonyl-Coa Carboxylase Deficiency:



Diseases related to 3-methylcrotonyl-coa carboxylase deficiency

Clinical Features for 3-Methylcrotonyl-Coa Carboxylase Deficiency

Sources:
47OMIM, 8Disease Ontology
See all sources

Clinical features from OMIM:

210210,210200

Symptoms:

8 (see all 5)
  • muscular hypotonia (weak muscle tone)
  • muscular atrophy
  • feeding difficulties
  • recurrent episodes of vomiting
  • lethargy

Drugs & Therapeutics for 3-Methylcrotonyl-Coa Carboxylase Deficiency

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for 3-Methylcrotonyl-Coa Carboxylase Deficiency

Drug clinical trials:

Search ClinicalTrials for 3-Methylcrotonyl-Coa Carboxylase Deficiency

Search NIH Clinical Center for 3-Methylcrotonyl-Coa Carboxylase Deficiency

Search CenterWatch for 3-Methylcrotonyl-Coa Carboxylase Deficiency

Genetic Tests for 3-Methylcrotonyl-Coa Carboxylase Deficiency

Anatomical Context for 3-Methylcrotonyl-Coa Carboxylase Deficiency

Animal Models for 3-Methylcrotonyl-Coa Carboxylase Deficiency or affiliated genes

Sources:
28inGenious Targeting Laboratory
See all sources

Publications for 3-Methylcrotonyl-Coa Carboxylase Deficiency

Genetic Variations for 3-Methylcrotonyl-Coa Carboxylase Deficiency

Expression for genes affiliated with 3-Methylcrotonyl-Coa Carboxylase Deficiency

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with 3-Methylcrotonyl-Coa Carboxylase Deficiency

Search GEO for disease gene expression data for 3-Methylcrotonyl-Coa Carboxylase Deficiency.

Pathways for genes affiliated with 3-Methylcrotonyl-Coa Carboxylase Deficiency

Sources:
54Reactome, 30KEGG, 38NCBI BioSystems Database
See all sources

Compounds for genes affiliated with 3-Methylcrotonyl-Coa Carboxylase Deficiency

Sources:
24HMDB, 45Novoseek, 11DrugBank
See all sources

Compounds related to 3-Methylcrotonyl-Coa Carboxylase Deficiency according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1(E)-2-Methylglutaconic acid249.8MCCC1, MCCC2
23-methylglutaconyl-coa45 2410.8MCCC1, MCCC2
33-methylcrotonyl-coa45 2410.7MCCC1, MCCC2
4biotin45 11 2411.6MCCC1, MCCC2
511beta-hydroxysteroid459.4ACADS, CGB5
617beta-hydroxysteroid459.3ACADS, CGB5
7oestriol459.3CGB7, CGB5
8ctp459.2CGB5, CGB7
9bleomycin45 119.8CGB7, CGB5

GO Terms for genes affiliated with 3-Methylcrotonyl-Coa Carboxylase Deficiency

Sources:
16Gene Ontology
See all sources

Cellular components related to 3-Methylcrotonyl-Coa Carboxylase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrionGO:0057398.5ACADS, HMGCL, MCCC1, MCCC2
2mitochondrial matrixGO:0057598.2ACADS, HMGCL, MCCC1, MCCC2

Biological processes related to 3-Methylcrotonyl-Coa Carboxylase Deficiency according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1biotin metabolic processGO:0067689.8MCCC1, MCCC2
2branched-chain amino acid catabolic processGO:0090839.7MCCC2, MCCC1
3water-soluble vitamin metabolic processGO:0067679.5MCCC1, MCCC2
4response to starvationGO:0425949.4ACADS, HMGCL
5cellular lipid metabolic processGO:0442559.3ACADS, HMGCL
6vitamin metabolic processGO:0067669.3MCCC1, MCCC2
7leucine catabolic processGO:0065529.2HMGCL, MCCC1, MCCC2
8small molecule metabolic processGO:0442818.5MCCC2, MCCC1, HMGCL, ACADS

Molecular functions related to 3-Methylcrotonyl-Coa Carboxylase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1fatty-acyl-CoA bindingGO:0000629.3ACADS, HMGCL
2methylcrotonoyl-CoA carboxylase activityGO:0044859.3MCCC1, MCCC2

Products for genes affiliated with 3-Methylcrotonyl-Coa Carboxylase Deficiency

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for 3-Methylcrotonyl-Coa Carboxylase Deficiency

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet