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3-methylglutaconic aciduria type 3

The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.

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Disease Overview

3-methylglutaconic aciduria type III (MGA III) is an organic aciduria characterized by the association of optic atrophy and choreoathetosis with 3-methylglutaconic aciduria.

Synonyms

  • 3-alpha methylglutaconic aciduria type III
  • 3-methylglutaconic aciduria caused by mutation in OPA3
  • 3-methylglutaconic aciduria type III
  • 3-methylglutaconic aciduria, type 3
  • 3-methylglutaconic aciduria, type III
  • Costeff optic atrophy syndrome
  • Costeff syndrome
  • Iraqi Jewish optic atrophy plus
  • Iraqi-Jewish 'optic atrophy plus'
  • Iraqi-Jewish optic atrophy plus
  • MGA type III
  • MGA, type 3
  • MGA3
  • MGCA3
  • OPA3 3-methylglutaconic aciduria
  • OPA3 defect
  • OPA3, autosomal recessive
  • autosomal recessive optic atrophy plus syndrome
  • autosomal recessive optic atrophy type 3
  • infantile optic atrophy with chorea and spastic paraplegia
  • optic atrophy 3, autosomal recessive
  • optic atrophy infantile with chorea and spastic paraplegia
  • optic atrophy plus syndrome
  • optic atrophy, infantile, with chorea and spastic paraplegia
GARD Disease Summary

The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).

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Orphanet

Orphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. Some of the information and resources are available in languages other than English. The summary may include medical terms, so we encourage you to share and discuss this information with your doctor. Orphanet is the French National Institute for Health and Medical Research and the Health Programme of the European Union.

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OMIM

Online Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.

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GeneReviews

GeneReviews has an article on this condition covering diagnosis, management, and inheritance. Each article is written by one or more experts on the specific disease and is reviewed by other specialists. The article contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. The GeneReviews database is managed by the University of Washington.

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MedlinePlus

MedlinePlus has information about this condition that may include a description, frequency, causes, inheritance, and links to more information. The information is written for the public, including patients, caregivers and families. MedlinePlus is a service of the National Library of Medicine (NLM), which is part of the National Institutes of Health (NIH).

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