Methylmalonic aciduria and homocystinuria, cblf type

Preferred Label : Methylmalonic aciduria and homocystinuria, cblf type;

Symbol : MAHCF;

CISMeF acronym : MAHCF;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : cblF; Methylmalonic acidemia and homocystinuria, cblf type; Cobalamin f disease; Vitamin b12 storage disease; Methylmalonic aciduria due to vitamin b12-release defect; Vitamin b12 lysosomal release defect; Cobalamin, defect in lysosomal release of;

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 (277410), and cblF.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the LMBR1 domain-containing protein 1 gene (LMBRD1, 612625.0001).;

Laboratory abnormalities : Methylmalonic acidemia; Methylmalonic aciduria; Homocystinemia; Homocystinuria; Cystathioninemia; Cystathioninuria; Decreased adenosylcobalamin (AdoCbl); Decreased activity of methionine synthase (MTR, 156570); Decreased activity of methylmalonyl-CoA mutase (MUT, 609058); Decreased methylcobalamin (MeCbl); Increased free cyanocobalamin in fibroblasts;

Prefixed ID : #277380;

Details

Origin ID

277380;

UMLS CUI

C1848578;

Automatic exact mappings (from CISMeF team)
- LMBR1 domain containing 1 [ORDO Gene]
- Methylmalonic Aciduria and Homocystinuria, cblF Type [NCIt concept]
Currated CISMeF NLP mapping
- Methylmalonic acidemia with homocystinuria type cblF [ORDO Disease]
- Methylmalonic aciduria - homocystinuria type cbl F [ICD-11 More detail]
- methylmalonic aciduria and homocystinuria type cblF [DO Concept]
- methylmalonic aciduria and homocystinuria, CblF type [MeSH concept]
- methylmalonic aciduria and homocystinuria, CblF type [MeSH Supplementary Concept]
DO Cross reference
- methylmalonic aciduria and homocystinuria type cblF [DO Concept]
Genes related to phenotype
- Lmbr1 domain-containing protein 1: lmbrd1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cystathioninemia [HPO term]
- Cystathioninuria [HPO term]
- Decreased adenosylcobalamin [HPO term]
- Decreased methionine synthase activity [HPO term]
- Decreased methylcobalamin [HPO term]
- Epicanthus [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]
- Glossitis [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Homocystinuria [HPO term]
- Hyperhomocystinemia [HPO term]
- Hypotonia [HPO term]
- Incoordination [HPO term]
- Infantile onset [HPO term]
- Lethargy [HPO term]
- Low-set ears [HPO term]
- Megaloblastic anemia [HPO term]
- Methylmalonic acidemia [HPO term]
- Methylmalonic aciduria [HPO term]
- Microtia [HPO term]
- Neutropenia [HPO term]
- Pancytopenia [HPO term]
- Skin rash [HPO term]
- Stomatitis [HPO term]
- Thin upper lip vermilion [HPO term]
- Thrombocytopenia [HPO term]
ORDO concept(s)
- Methylmalonic acidemia with homocystinuria [ORDO Disease]
- Methylmalonic acidemia with homocystinuria type cblF [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Methylmalonic Aciduria and Homocystinuria, cblF Type [NCIt concept]
- Methylmalonic acidemia with homocystinuria type cblF [ORDO Disease]
- Methylmalonic aciduria - homocystinuria type cbl F [ICD-11 More detail]
- methylmalonic aciduria and homocystinuria type cblF [DO Concept]
- methylmalonic aciduria and homocystinuria, CblF type [MeSH Supplementary Concept]
- methylmalonic aciduria and homocystinuria, CblF type [MeSH concept]

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