Details of Disease

General Information of Disease (ID: DIS2ST7M)

Disease Name Malonic aciduria
Synonyms MCD deficiency; Malonicaciduria; malonic acidemia; malonic aciduria; malonyl-CoA decarboxylase deficiency
Definition Malonic aciduria is a metabolic disorder caused by deficiency of malonyl-CoA decarboxylase (MCD).
Disease Hierarchy
DISB7ID3: Inborn organic aciduria
DIS2ST7M: Malonic aciduria
Disease Identifiers
MONDO ID
MONDO_0009556
MESH ID
C535702
UMLS CUI
C0342793
OMIM ID
248360
MedGen ID
91001
Orphanet ID
943
SNOMED CT ID
124594007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
MLYCD TT9Z4YD Definitive Autosomal recessive [1]
MLYCD TT9Z4YD Definitive Biomarker [2]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ACSF3 OT3WZW8S Strong Biomarker [3]
MLYCD OT1KDWGX Definitive Autosomal recessive [1]
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References

1 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.
2 Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.Brain. 2016 Nov 1;139(11):2844-2854. doi: 10.1093/brain/aww221.
3 Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria. Nat Genet. 2011 Aug 14;43(9):883-6. doi: 10.1038/ng.908.