Methylmalonic aciduria and homocystinuria, cblx type

Preferred Label : Methylmalonic aciduria and homocystinuria, cblx type;

Symbol : MAHCX;

CISMeF acronym : MRX3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : MRX3; Mental retardation, X-linked 3; Methylmalonic acidemia and homocysteinemia, cblx type; XLID3; Intellectual developmental disorder, X-linked 3;

Description : Methylmalonic acidemia and homocysteinemia, cblX type, is an X-linked recessive metabolic disorder characterized by severely delayed psychomotor development apparent in infancy. It is associated with failure to thrive, mental retardation, and intractable epilepsy. Additional features may include microcephaly and choreoathetosis (summary by Yu et al., 2013).;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the host cell factor C1 gene (HCFC1, 300019.0001);

Laboratory abnormalities : Methylmalonic aciduria; Homocysteinemia (in some patients); Methylmalonic acidemia; Homocystinuria (in some patients);

Prefixed ID : #309541;

Details

Origin ID

309541;

UMLS CUI

C0796208;

Automatic exact mappings (from CISMeF team)
- Methylmalonic acidemia with homocystinuria, type cblX [ORDO Disease]
- X-linked non-syndromic intellectual disability [ORDO Disease]
- methylmalonic acidemia and homocysteinemia cblX type [DO Concept]
Currated CISMeF NLP mapping
- mental retardation, X-Linked 3 [MeSH concept]
- mental retardation, X-Linked 3 [MeSH Supplementary Concept]
DO Cross reference
- methylmalonic acidemia and homocysteinemia cblX type [DO Concept]
Genes related to phenotype
- Host cell factor c1 [OMIM gene]
HPO term(s)
- Athetosis [HPO term]
- Brachycephaly [HPO term]
- Chorea [HPO term]
- Failure to thrive [HPO term]
- Generalized hypotonia [HPO term]
- Homocystinuria [HPO term]
- Hypotonia [HPO term]
- Hypsarrhythmia [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Methylmalonic acidemia [HPO term]
- Methylmalonic aciduria [HPO term]
- Microcephaly [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
- X-linked inheritance [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Methylmalonic acidemia with homocystinuria, type cblX [ORDO Disease]
See also inter- (CISMeF)
- HCFC1 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- mental retardation, X-Linked 3 [MeSH Supplementary Concept]
- mental retardation, X-Linked 3 [MeSH concept]

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