Methylmalonic aciduria and homocystinuria, cblc type

Preferred Label : Methylmalonic aciduria and homocystinuria, cblc type;

Symbol : MAHCC;

CISMeF acronym : MAHCC;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Methylmalonic acidemia and homocystinuria, cblc type; Methylmalonic aciduria and homocystinuria, vitamin b12-responsive; Vitamin b12 metabolic defect with combined deficiency of methylmalonyl-coa mutase and homocysteine:methyltetrahydrofolate methyltransferase;

Included titles and symbols : Methylmalonic aciduria and homocystinuria, cblc type, digenic;

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, cblD (277410), and cblF (277380). Isolated methylmalonic acidurias have also been classified by complementation groups: MMA 'mut' (251000) is caused by mutation in the MUT gene on chromosome 6p21; MMA cblA (251100) is caused by mutation in the MMAA gene (607481) on 4q31; and MMA cblB (251110) is caused by mutation in the MMAB gene (607568) on 12q24.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the MMACHC gene (MMACHC gene 609831.0001);

Laboratory abnormalities : Homocystinuria; Homocysteinemia; Methylmalonic aciduria; Methylmalonic acidemia; Decreased serum methionine; Cystathioninemia; Cystathioninuria; Uremia; Hematuria; Proteinuria; Decreased adenosylcobalamin (AdoCbl); Decreased methylcobalamin (MeCbl); Decreased methionine synthase (MTR, 156570) activity; Decreased methylmalonyl-CoA mutase (MUT, 609058) activity; Normal serum cobalamin; Decreased cobalamin in liver, kidney, and cultured fibroblasts;

Prefixed ID : #277400;

Details

Origin ID

277400;

UMLS CUI

C1848561;

CISMeF manual mappings
- Methylmalonic aciduria - homocystinuria type cbl C [ICD-11 More detail]
Currated CISMeF NLP mapping
- Cobalamin C disease (disorder) [SNOMED CT concept]
- Methylmalonic Aciduria and Homocystinuria, cblC Type [NCIt concept]
- Methylmalonic acidemia with homocystinuria [MeSH concept]
- Methylmalonic acidemia with homocystinuria, type cblC [ORDO Disease]
- cobalamin c disease [SNOMED Notion]
- methylmalonic acidemia with homocystinuria [MeSH Supplementary Concept]
- methylmalonic aciduria and homocystinuria type cblC [DO Concept]
DO Cross reference
- methylmalonic aciduria and homocystinuria type cblC [DO Concept]
Genes related to phenotype
- Metabolism of Cobalamin associated C [OMIM gene]
- Peroxiredoxin 1 [OMIM gene]
HPO term(s)
- Abnormality of extrapyramidal motor function [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebral cortical atrophy [HPO term]
- Confusion [HPO term]
- Cystathioninemia [HPO term]
- Cystathioninuria [HPO term]
- Decreased adenosylcobalamin [HPO term]
- Decreased methionine synthase activity [HPO term]
- Decreased methylcobalamin [HPO term]
- Decreased methylmalonyl-CoA mutase activity [HPO term]
- Delirium [HPO term]
- Dementia [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties in infancy [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hematuria [HPO term]
- Hemolytic-uremic syndrome [HPO term]
- High forehead [HPO term]
- Homocystinuria [HPO term]
- Hydrocephalus [HPO term]
- Hyperhomocystinemia [HPO term]
- Hypomethioninemia [HPO term]
- Hypotonia [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Large, floppy ears [HPO term]
- Lethargy [HPO term]
- Long face [HPO term]
- Low-set ears [HPO term]
- Macrotia [HPO term]
- Megaloblastic anemia [HPO term]
- Metabolic acidosis [HPO term]
- Methylmalonic acidemia [HPO term]
- Methylmalonic aciduria [HPO term]
- Microcephaly [HPO term]
- Nephropathy [HPO term]
- Neutropenia [HPO term]
- Nystagmus [HPO term]
- Pigmentary retinopathy [HPO term]
- Proteinuria [HPO term]
- Reduced visual acuity [HPO term]
- Renal insufficiency [HPO term]
- Seizure [HPO term]
- Smooth philtrum [HPO term]
- Thrombocytopenia [HPO term]
- Thromboembolism [HPO term]
- Tremor [HPO term]
- Visual impairment [HPO term]
Not associated HPO term(s)
- Abnormal vitamin B12 level [HPO term]
ORDO concept(s)
- Methylmalonic acidemia with homocystinuria [ORDO Disease]
- Methylmalonic acidemia with homocystinuria, type cblC [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cobalamin C disease (disorder) [SNOMED CT concept]
- Methylmalonic Aciduria and Homocystinuria, cblC Type [NCIt concept]
- Methylmalonic acidemia with homocystinuria [ORDO Disease]
- Methylmalonic acidemia with homocystinuria [MeSH concept]
- Methylmalonic acidemia with homocystinuria, type cblC [ORDO Disease]
- Methylmalonic aciduria - homocystinuria [ICD-11 More detail]
- Methylmalonic aciduria - homocystinuria type cbl C [ICD-11 More detail]
- cobalamin c disease [SNOMED Notion]
- methylmalonic acidemia with homocystinuria [MeSH Supplementary Concept]
- methylmalonic aciduria and homocystinuria type cblC [DO Concept]
Validated automatic mappings to NTBT
- Methylmalonic aciduria - homocystinuria [ICD-11 More detail]

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