Details of Disease

General Information of Disease (ID: DISDQMDY)

• Disease Name: 3-methylglutaconic aciduria type 3
• Synonyms: 3-methylglutaconic aciduria, type III; optic atrophy infantile with chorea and spastic paraplegia; MGA type III; optic atrophy, infantile, with chorea and spastic paraplegia; Iraqi Jewish optic atrophy plus; 3-methylglutaconic aciduria, type 3; MGCA3; Iraqi-Jewish 'optic atrophy plus'; optic atrophy 3, autosomal recessive; 3-alpha methylglutaconic aciduria type III; optic atrophy plus syndrome; OPA3, autosomal recessive; MGA, type 3; OPA3 defect; MGA3; 3-methylglutaconic aciduria type III; 3-methylglutaconic aciduria caused by mutation in OPA3; Iraqi-Jewish optic atrophy plus; infantile optic atrophy with chorea and spastic paraplegia; autosomal recessive optic atrophy plus syndrome; autosomal recessive optic atrophy type 3; Costeff optic atrophy syndrome; OPA3 3-methylglutaconic aciduria; Costeff syndrome
• Definition: 3-methylglutaconic aciduria type III (MGA III) is an organic aciduria characterized by the association of optic atrophy and choreoathetosis with 3-methylglutaconic aciduria.
• Disease Hierarchy:
  DIS8G1WP: 3-methylglutaconic aciduria
  DISDQMDY: 3-methylglutaconic aciduria type 3
• Disease Identifiers:
  MONDO ID: MONDO_0009787
  MESH ID: C535311
  UMLS CUI: C0574084
  OMIM ID: 258501
  MedGen ID: 108273
  Orphanet ID: 67047
  SNOMED CT ID: 297232009

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
DMPK	TTZQTY2	Strong	Genetic Variation	[1]

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MICOS13	OTNNPM61	Supportive	Autosomal recessive	[2]
ATRN	OTTCLOPV	Strong	Genetic Variation	[3]
SERAC1	OTWH1ULQ	Strong	Biomarker	[4]
OPA3	OT6NDC1M	Definitive	Autosomal recessive	[5]

References

• [1] Iraqi-Jewish kindreds with optic atrophy plus (3-methylglutaconic aciduria type 3) demonstrate linkage disequilibrium with the CTG repeat in the 3' untranslated region of the myotonic dystrophy protein kinase gene.Hum Mol Genet. 1997 Apr;6(4):563-9. doi: 10.1093/hmg/6.4.563.
• [2] Mitochondrial hepato-encephalopathy due to deficiency of QIL1/MIC13 (C19orf70), a MICOS complex subunit. Eur J Hum Genet. 2016 Dec;24(12):1778-1782. doi: 10.1038/ejhg.2016.83. Epub 2016 Aug 3.
• [3] OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria.Mol Genet Metab. 2010 Jun;100(2):149-54. doi: 10.1016/j.ymgme.2010.03.005. Epub 2010 Mar 16.
• [4] Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature.J Inherit Metab Dis. 2013 Nov;36(6):923-8. doi: 10.1007/s10545-012-9580-0. Epub 2013 Jan 8.
• [5] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.