Details of Disease

General Information of Disease (ID: DISUIMO9)

Disease Name Methylmalonic aciduria and homocystinuria type cblD
Synonyms
cblD - cobalamin locus d; cblD methylmalonic acidemia and homocystinuria; methylmalonic aciduria and homocystinuria, cblD type; homocystinuria, cblD type, variant 1; methylmalonic aciduria, cblD type, variant 2, included; methylmalonic aciduria, Cblh type; m0e.321 cobalamin locus d variant; methylmalonic acidemia, Cblh type, formerly; methylmalonic acidemia with homocystinuria, type cblD; MAHCD; methylmalonic acidemia and homocystinuria, cblD type; homocystinuria, cblD type, variant 1, included; Mehtylmalonic acidemia with homocystinuria cbI d; methylmalonic acidemia with homocystinuria type cblD; methylmalonic aciduria, cblD type, variant 2; methylmalonic aciduria, Cblh type, formerly; methylmalonic acidemia, Cblh type; methylmalonic aciduria and homocystinuria type cblD; combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblD; methylmalonic aciduria with homocystinuria, type cblD; cobalamin D defect; cobalamin d disease; cblD defect; cobalamin D deficiency
Definition A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations.
Disease Hierarchy
DIS69ZQ2: Methylmalonic aciduria and/or homocystinuria, cblD type
DIS5921T: Methylmalonic aciduria and homocystinuria
DISUIMO9: Methylmalonic aciduria and homocystinuria type cblD
Disease Identifiers
MONDO ID
MONDO_0010185
MESH ID
C564743
UMLS CUI
C1848552
OMIM ID
277410
MedGen ID
341253
Orphanet ID
79283

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
MMADHC OTP0UPL2 Definitive Autosomal recessive [1]
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References

1 Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.