Preferred Label : 3-methylglutaconic aciduria, type III;
Symbol : MGCA3;
CISMeF acronym : MGA3; MGCA3;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Optic atrophy, infantile, with chorea and spastic paraplegia; Mga, type III; Optic atrophy plus syndrome; Opa3, autosomal recessive; Iraqi-jewish 'optic atrophy plus'; Optic atrophy 3, autosomal recessive; Costeff syndrome; MGA3;
Description : Type III 3-methylglutaconic aciduria is a neuroophthalmologic syndrome consisting
of early-onset bilateral optic atrophy and later-onset spasticity, extrapyramidal
dysfunction, and cognitive deficit. Urinary excretion of 3-methylglutaconic acid and
of 3-methylglutaric acid is increased (Anikster et al., 2001). The phenotype is similar
to Behr syndrome (210000) and may in some cases represent the same disorder (Sheffer
et al., 1992; Lerman-Sagie, 1995).;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the outer mitochondrial membrane lipid metabolism regulator
OPA3 gene (OPA3, 606580.0001);
Laboratory abnormalities : Increased urinary 3-methylglutaconic acid;
Prefixed ID : #258501;
Origin ID : 258501;
UMLS CUI : C0574084;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
