Details of Disease

General Information of Disease (ID: DISXSKG7)

Disease Name Methylmalonic aciduria, cblB type
Synonyms
methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB type; methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type; methylmalonic aciduria, cblB type; methylmalonic acidemia, cblB type; methylmalonic acidemia cblB type; methylmalonic aciduria cblB type; methylmalonic aciduria, vitamin B12-responsive, cblB type; vitamin B12-responsive methylmalonic aciduria, type cblB; vitamin B12-responsive methylmalonic acidemia type cblB
Definition An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAB gene, encoding cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial.
Disease Hierarchy
DISXEKO2: Vitamin B12-responsive methylmalonic acidemia
DISXSKG7: Methylmalonic aciduria, cblB type
Disease Identifiers
MONDO ID
MONDO_0009614
MESH ID
C537361
UMLS CUI
C1855102
OMIM ID
251110
MedGen ID
344420
Orphanet ID
79311

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
MVK TT5DFHW Limited Genetic Variation [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
MMAB OTOWOEJN Definitive Autosomal recessive [2]
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References

1 High resolution melting analysis of the MMAB gene in cblB patients and in those with undiagnosed methylmalonic aciduria.Mol Genet Metab. 2013 Sep-Oct;110(1-2):86-9. doi: 10.1016/j.ymgme.2013.04.020. Epub 2013 May 4.
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.