Details of Disease

General Information of Disease (ID: DISNSNPY)

Disease Name Combined malonic and methylmalonic acidemia
Synonyms combined malonic and methylmalonic aciduria; CMAMMA; combined malonic and methylmalonic acidemia
Definition
Combined malonic and methylmalonic acidemia is a rare inborn error of metabolism characterized by elevation of malonic acid (MA) and methylmalonic acid (MMA) in body fluids, with higher levels of MMA than MA. CMAMMA presents in childhood with metabolic acidosis, developmental delay, dystonia and failure to thrive or in adulthood with seizures, memory loss and cognitive decline.
Disease Hierarchy
DISCXXVK: Classic organic aciduria
DISHY8VB: Methylmalonic acidemia
DISNSNPY: Combined malonic and methylmalonic acidemia
Disease Identifiers
MONDO ID
MONDO_0013661
MESH ID
C580002
UMLS CUI
C3280314
OMIM ID
614265
MedGen ID
481944
Orphanet ID
289504
SNOMED CT ID
702365002

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
ACSF3 OT3WZW8S 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.