Methylmalonic aciduria and homocystinuria, cbld type

Preferred Label : Methylmalonic aciduria and homocystinuria, cbld type;

Symbol : MAHCD;

CISMeF acronym : MAHCD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Methylmalonic acidemia and homocystinuria, cbld type; Methylmalonic acidemia, cblh type; Methylmalonic aciduria, cblh type;

Description : Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous disorder of cobalamin (cbl; vitamin B12) metabolism. The defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT; 609058) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR; 156570). Different forms of the disorder have been classified according to complementation groups of cells in vitro: cblC (277400), cblD, and cblF (277380). Isolated methylmalonic acidurias have also been classified by complementation groups: MMA 'mut' (251000), caused by mutation in the MUT gene on chromosome 6p21; MMA cblA (251100), caused by mutation in the MMAA gene (607481) on 4q31; and MMA cblB (251110), caused by mutation in the MMAB gene (607568) on 12q24. Another form of isolated MMA (613646) can be caused by defect in the transcobalamin receptor (CD320; 606475).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the chromosome 2 open reading frame 25 gene (C2ORF25, 611935.0001);

Laboratory abnormalities : Homocystinuria; Homocystinemia; Methylmalonic aciduria; Methylmalonic acidemia; Decreased serum methionine; Decreased adenosylcobalamin (AdoCbl); Decreased methionine synthase (MTR, 156570) activity; Decreased methylmalonyl-CoA mutase (MUT, 609058) activity; Decreased methylcobalamin (MeCbl); Normal or mildly reduced serum cobalamin;

Prefixed ID : #277410;

Details

Origin ID

277410;

UMLS CUI

C1848552;

Automatic exact mappings (from CISMeF team)
- Homocystinuria without methylmalonic aciduria [ORDO Disease]
- Methylcobalamin deficiency type cblDv1 [ORDO Disease]
- Vitamin B12-responsive methylmalonic acidemia [ORDO Disease]
- Vitamin B12-responsive methylmalonic acidemia, type cblDv2 [ORDO Disease]
- homocystinuria, CblD type, variant 1 [MeSH concept]
- methylmalonic aciduria, CblD type, variant 2 [MeSH concept]
Currated CISMeF NLP mapping
- Methylmalonic Aciduria and Homocystinuria, cblD Type [NCIt concept]
- Methylmalonic acidemia with homocystinuria, type cblD [ORDO Disease]
- Methylmalonic aciduria - homocystinuria type cbl D [ICD-11 More detail]
- methylmalonic aciduria and homocystinuria type cblD [DO Concept]
- methylmalonic aciduria and homocystinuria, CblD type [MeSH concept]
- methylmalonic aciduria and homocystinuria, CblD type [MeSH Supplementary Concept]
DO Cross reference
- methylmalonic aciduria and homocystinuria type cblD [DO Concept]
Genes related to phenotype
- Metabolism of cobalamin associated D [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cerebral cortical atrophy [HPO term]
- Decreased adenosylcobalamin [HPO term]
- Decreased methionine synthase activity [HPO term]
- Decreased methylcobalamin [HPO term]
- Decreased methylmalonyl-CoA mutase activity [HPO term]
- Dystonia [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Homocystinuria [HPO term]
- Hyperhomocystinemia [HPO term]
- Hypomethioninemia [HPO term]
- Hypotonia [HPO term]
- Increased mean corpuscular volume [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Lethargy [HPO term]
- Megaloblastic anemia [HPO term]
- Methylmalonic acidemia [HPO term]
- Methylmalonic aciduria [HPO term]
- Nystagmus [HPO term]
- Seizure [HPO term]
- Spastic ataxia [HPO term]
ORDO concept(s)
- Homocystinuria without methylmalonic aciduria [ORDO Disease]
- Methylcobalamin deficiency type cblDv1 [ORDO Disease]
- Methylmalonic acidemia with homocystinuria [ORDO Disease]
- Methylmalonic acidemia with homocystinuria, type cblD [ORDO Disease]
- Vitamin B12-responsive methylmalonic acidemia [ORDO Disease]
- Vitamin B12-responsive methylmalonic acidemia, type cblDv2 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Methylcobalamin deficiency type cblDv1 [ORDO Disease]
- Methylmalonic Aciduria and Homocystinuria, cblD Type [NCIt concept]
- Methylmalonic acidemia with homocystinuria, type cblD [ORDO Disease]
- Methylmalonic aciduria - homocystinuria type cbl D [ICD-11 More detail]
- Vitamin B12-responsive methylmalonic acidemia, type cblDv2 [ORDO Disease]
- methylmalonic aciduria and homocystinuria type cblD [DO Concept]
- methylmalonic aciduria and homocystinuria, CblD type [MeSH Supplementary Concept]
- methylmalonic aciduria and homocystinuria, CblD type [MeSH concept]

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