Details of Disease

General Information of Disease (ID: DIS3TZW5)

Disease Name 3-methylcrotonyl-CoA carboxylase deficiency
Synonyms
methylcrotonylglycinuria; BMCC deficiency; Methylcrotonyl-CoA carboxylase deficiency; MCCD; MCC deficiency; 3-methylcrotonylglycinuria; 3-MCC deficiency; 3MCC deficiency; 3-methylcrotonyl-CoA carboxylase deficiency
Definition
3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is an inherited disorder of leucine metabolism characterized by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults.
Disease Hierarchy
DISCXXVK: Classic organic aciduria
DIS3TZW5: 3-methylcrotonyl-CoA carboxylase deficiency
Disease Identifiers
MONDO ID
MONDO_0018950
UMLS CUI
C4551505
MedGen ID
1633312
Orphanet ID
6
SNOMED CT ID
13144005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
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 Autosomal recessive [2]
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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 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.