Details of Disease

General Information of Disease (ID: DISEE5OU)

• Disease Name: 3-methylcrotonyl-CoA carboxylase 1 deficiency
• Synonyms: 3-methylcrotonylglycinuria I; Mccd type 1; methylcrotonylglycinuria type 1; 3 methylcrotonylglycinuria; MCC1 deficiency; 3-Methylcrotonyl-Coa carboxylase deficiency; 3-Methylcrotonyl-Coenzyme A carboxylase deficiency; 3 alpha methylcrotonylglycinuria 1; MCC deficiency; 3 Alpha methylcrotonylglycinuria 1; 3 Methylcrotonyl-CoA carboxylase 1 deficiency; deficiency of methylcrotonoyl-Coa carboxylase; 3-METHYLCROTONYL-CoA carboxylase 1 deficiency; MCCD type 1; 3-methylcrotonylglycinuria; 3 Methylcrotonyl-CoA carboxylase deficiency; Mcc1 deficiency; 3-methylcrotonylglycinuria 1; 3-MCC deficiency; methylcrotonylglycinuria type I; MCC1D; Bmcc deficiency; Methylcrotonyl-Coa carboxylase deficiency; MCC 1 deficiency; methylcrotonoyl-CoA carboxylase 1 deficiency; MCCC1 3-methylcrotonyl-CoA carboxylase deficiency; 3-methylcrotonyl-CoA carboxylase 1 deficiency; 3-methylcrotonyl-CoA carboxylase deficiency caused by mutation in MCCC1; 3-Methylcrotonyl-Coa carboxylase 1 deficiency
• Definition: Any 3-methylcrotonyl-CoA carboxylase deficiency in which the cause of the disease is a mutation in the MCCC1 gene.
• Disease Hierarchy:
  DIS3TZW5: 3-methylcrotonyl-CoA carboxylase deficiency
  DIS5O5V0: Urea cycle disorder
  DISEE5OU: 3-methylcrotonyl-CoA carboxylase 1 deficiency
• Disease Identifiers:
  MONDO ID: MONDO_0008861
  MESH ID: C535308
  UMLS CUI: C0268600
  OMIM ID: 210200
  MedGen ID: 78691

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MED17	OTEZR5GC	Strong	Genetic Variation	[1]
MCCC1	OTLOHEQE	Definitive	Autosomal recessive	[2]
MCCC2	OTQDHSMI	Definitive	Biomarker	[3]

References

• [1] Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD.Genet Med. 2015 Aug;17(8):660-7. doi: 10.1038/gim.2014.157. Epub 2014 Nov 6.
• [2] Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.
• [3] 3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening.Gene. 2016 Dec 15;594(2):203-210. doi: 10.1016/j.gene.2016.09.003. Epub 2016 Sep 4.