Details of Disease | DrugMAP

General Information of Disease (ID: DIS8I8K6)

Disease Name	3-methylcrotonyl-CoA carboxylase 2 deficiency
Synonyms	MCC 2 deficiency; 3-methylcrotonylglycinuria 2; 3-METHYLCROTONYL-CoA carboxylase 2 deficiency; methylcrotonylglycinuria, type 2; MCC2 deficiency; methylcrotonylglycinuria type 2; MCC2D; 3 alpha methylcrotonylglycinuria 2; 3 alpha methylcrotonyl-CoA carboxylase 2 deficiency; MCCC2 3-methylcrotonyl-CoA carboxylase deficiency; 3-Methylcrotonyl-CoA carboxylase 2 deficiency; 3-methylcrotonyl-CoA carboxylase deficiency caused by mutation in MCCC2
Definition	Any 3-methylcrotonyl-CoA carboxylase deficiency in which the cause of the disease is a mutation in the MCCC2 gene.
Disease Hierarchy	DIS3TZW5: 3-methylcrotonyl-CoA carboxylase deficiency DIS8I8K6: 3-methylcrotonyl-CoA carboxylase 2 deficiency
Disease Identifiers	MONDO ID MONDO_0008862 MESH ID C535309 UMLS CUI C1859499 OMIM ID 210210 MedGen ID 347898

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MCCC2	OTQDHSMI	Definitive	Autosomal recessive	[1]
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References

1	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.