Details of Disease

General Information of Disease (ID: DISWSXNJ)

Disease Name Methylmalonic aciduria, cblA type
Synonyms
cblA methylmalonic acidemia; cblB methylmalonic acidemia; methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblA complementation type; cobalamin locus A variant; methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblA type; cobalamin locus B variant; cblA - cobalamin locus a; MMA Cbl A type; cblB - cobalamin locus b; methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cblA type; methylmalonic aciduria cblA type; methylmalonic aciduria, cblA type; vitamin B12-responsive methylmalonic acidemia type cblA; methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cb1A type; cobalamin A disease; methylmalonic acidemia cblA type; methylmalonic acidemia, cblA type; Methylmalonic aciduria, vitamin B12-responsive, cblA type; vitamin B12-responsive methylmalonic aciduria type cblA; cobalamin B disease
Definition An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAA gene, encoding MMAA protein.
Disease Hierarchy
DISXEKO2: Vitamin B12-responsive methylmalonic acidemia
DISWSXNJ: Methylmalonic aciduria, cblA type
Disease Identifiers
MONDO ID
MONDO_0009613
MESH ID
C537360
UMLS CUI
C1855109
OMIM ID
251100
MedGen ID
344422
Orphanet ID
79310

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
MMAA OTMAVZVO 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.