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ORPHA:67047

3-methylglutaconic aciduria type 3

medium confidenceDisorder

Also known as: Autosomal recessive optic atrophy plus syndrome · Autosomal recessive optic atrophy type 3 · Costeff optic atrophy syndrome · Costeff syndrome · Infantile optic atrophy with chorea and spastic paraplegia · MGA3

Publications

170

64.5th percentile

Trials

0

Interventional, condition-specific

Researchers

1,198

Distinct authors in sample

Gene link

OPA3

Definitive

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

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

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (5)

3-methylglutaconic aciduria caused by mutation in OPA3 · OPA3 3-methylglutaconic aciduria · autosomal recessive optic atrophy plus syndrome · autosomal recessive optic atrophy type 3 · infantile optic atrophy with chorea and spastic paraplegia

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

2/6 stages with a signal

No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.

  1. Gene identifiedPresent

    Definitive — OPA3

  2. LiteraturePresent

    170 matched papers (89 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialNot found

    No matched interventional trial under our ClinicalTrials.gov rules

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Yes — we know a specific gene responsible (OPA3).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

Not enriched in this build — Monarch phenotype joins were not run for this record.

Animal models (Monarch / Alliance)

Not enriched in this build.

Literature

Is anyone studying this?

170

170 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

170 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).

89 in the last 10 years · medium confidence · 64.5th percentile (publications denominator)

Phrase hits: 170 · MeSH hits: 2

Open Europe PMC search

Who's working on it?

1,198

Distinct author names in 170 sampled papers — named people below.

Who's working on it?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  1. 01
    Anikster Y11 papers · 2022

    Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.

    Papers in Europe PMC
  2. 02
    Yu-Wai-Man P10 papers · 2021

    Mitochondrial Research Group, The Medical School, Newcastle University, Newcastle upon Tyne, UK.

    Papers in Europe PMC
  3. 03
    Chinnery PF7 papers · 2020

    1 Departments of Neurology and Ophthalmology, Royal Victoria Infirmary, Newcastle upon Tyne, UK 2 Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.

    Papers in Europe PMC
  4. 04
    Votruba M7 papers · 2019

    Department of Molecular Genetics, Institute of Ophthalmology, UCL, Bath Street, London EC1V 9EL, UK. m_votruba@altavista.co.uk

    Papers in Europe PMC
  5. 05
    Carelli V6 papers · 2021

    10 IRCCS Istituto delle Scienze Neurologiche di Bologna, Bellaria Hospital, Via Altura 3, 40139 Bologna, Italy11 Neurology Unit, Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Via Altura 3, 40139 Bologna, Italy.

    Papers in Europe PMC
  6. 06
    Morava E6 papers · 2017

    Hayward Genetics Center and Department of Pediatrics, Tulane University Medical School, New Orleans, LA.

    Papers in Europe PMC
  7. 07
    Wortmann SB6 papers · 2022

    Institute of Human Genetics, Technische UniversitätMünchen, Munich, Germany.

    Papers in Europe PMC
  8. 08
    Davies JR5 papers · 2016

    School of Optometry and Vision Sciences, Cardiff University, Cardiff CF24 4LU, UK.

    Papers in Europe PMC
  9. 09
    Huizing M5 papers · 2014

    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. mhuizing@mail.nih.gov

    Papers in Europe PMC
  10. 10
    Taylor RW5 papers · 2022

    Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, United Kingdom.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).

Data as of 27 July 2026

No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.

medium confidence · 36.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

Broader category 3-methylglutaconic aciduria also has no matched interventional trial. See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

Broader category: 3-methylglutaconic aciduria

0

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Parent-category matching found a broader label but no interventional trials under it. How we count trials.

Where to find support

We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:

India — NPRD

Last verified 2026-07-26

Likely covered — the policy lists Organic acidemia as a category (Group 1), and this condition is a form of it. Confirm eligibility with a Centre of Excellence.

Group 1 — one-time curative treatment

Up to ₹50 lakh per patient

Financial support for treatment at notified Centres of Excellence (figures evolved from the original ₹20 lakh Group-1 ceiling).

Policy figures change. Verify current MoHFW / CoE guidance before relying on any amount. Verify

Centres of Excellence (15)
  • All India Institute of Medical Sciences (AIIMS) — New Delhi, Delhi
  • Maulana Azad Medical College — New Delhi, Delhi
  • Sanjay Gandhi Post Graduate Institute of Medical Sciences — Lucknow, Uttar Pradesh
  • Post Graduate Institute of Medical Education and Research (PGIMER) — Chandigarh, Chandigarh
  • Centre for DNA Fingerprinting & Diagnostics with Nizam’s Institute of Medical Sciences — Hyderabad, Telangana
  • King Edward Memorial Hospital — Mumbai, Maharashtra
  • Institute of Post-Graduate Medical Education and Research (IPGMER) — Kolkata, West Bengal
  • Centre for Human Genetics with Indira Gandhi Hospital — Bengaluru, Karnataka
  • Institute of Child Health and Hospital for Children (ICH & HC) — Chennai, Tamil Nadu
  • All India Institute of Medical Sciences (AIIMS) — Jodhpur, Rajasthan
  • Sree Avittam Thirunal Hospital (SAT), Government Medical College — Thiruvananthapuram, Kerala
  • All India Institute of Medical Sciences (AIIMS) — Bhopal, Madhya Pradesh
  • Regional Institute of Medical Sciences (RIMS) — Imphal, Manipur
  • All India Institute of Medical Sciences (AIIMS) — Patna, Bihar
  • Assam Medical College & Hospital — Dibrugarh, Assam

Voluntary contributions / crowdfunding (separate from CoE funding): https://rarediseases.mohfw.gov.in/

Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.

How we counted this

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

"3-methylglutaconic aciduria type 3" OR "Autosomal recessive optic atrophy plus syndrome" OR "Autosomal recessive optic atrophy type 3" OR "Costeff optic atrophy syndrome" OR "Costeff syndrome" OR "Infantile optic atrophy with chorea and spastic paraplegia" OR "3-methylglutaconic aciduria caused by mutation in OPA3" OR "OPA3 3-methylglutaconic aciduria"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Costeff optic atrophy syndrome

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"3-methylglutaconic aciduria type 3" OR "Autosomal recessive optic atrophy plus syndrome" OR "Autosomal recessive optic atrophy type 3" OR "Costeff optic atrophy syndrome" OR "Costeff syndrome" OR "Infantile optic atrophy with chorea and spastic paraplegia" OR "3-methylglutaconic aciduria caused by mutation in OPA3" OR "OPA3 3-methylglutaconic aciduria" OR "OPA3" OR "classic organic aciduria"

Recall-expansion terms: OPA3, classic organic aciduria

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"3-methylglutaconic aciduria"

Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: MGA3

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T01:26:34.635Z