Details of Disease

General Information of Disease (ID: DISEQ2LP)

Disease Name Methylmalonic acidemia with homocystinuria, type cblJ
Synonyms
methylmalonic aciduria and homocystinuria, cblJ type; MAHCJ; methylmalonic acidemia with homocystinuria type cblJ; methylmalonic aciduria with homocystinuria, type cblJ; cblJ defects; combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblJ; cobalamin J defect
Disease Hierarchy
DIS5921T: Methylmalonic aciduria and homocystinuria
DISEQ2LP: Methylmalonic acidemia with homocystinuria, type cblJ
Disease Identifiers
MONDO ID
MONDO_0013925
UMLS CUI
C3553915
OMIM ID
614857
MedGen ID
766829
Orphanet ID
369955

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
ABCD4 DTI8AFW moderate Biomarker [1]
ABCD4 DTI8AFW Strong Autosomal recessive [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ABCD4 OTLNMBTU Strong Autosomal recessive [2]
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References

1 Progressive hyperpigmentation in a Taiwanese child due to an inborn error of vitamin B12 metabolism (cblJ).Br J Dermatol. 2015 Apr;172(4):1111-5. doi: 10.1111/bjd.13413. Epub 2015 Feb 27.
2 Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism. Nat Genet. 2012 Oct;44(10):1152-5. doi: 10.1038/ng.2386. Epub 2012 Aug 26.