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ORPHA:227976

Autosomal recessive optic atrophy, OPA7 type

high confidenceDisorder

Query health: suspect — Only one of 3 strategies returned hits (mesh).

Publications

1

7th percentile

Trials

0

Interventional, condition-specific

Researchers

26

Distinct authors in sample

Gene link

TMEM126A

Definitive

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare, syndromic, optic disorder characterized by early-onset, severe, visual impairment, optic disc pallor and central scotoma, variably associated with dyschromatopsia, auditory (e.g. mild sensorineural hearing loss), sensorimotor axonal and, occasionally, moderate hypertrophic .

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

TMEM126A-related optic atrophy with or without extraocular features

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 — TMEM126A

  2. LiteraturePresent

    1 matched papers (1 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 (TMEM126A).

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?

1

1 paper have ever been indexed 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.

1 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).

1 in the last 10 years · high confidence · 7th percentile (publications denominator)

Phrase hits: 0 · MeSH hits: 1

Open Europe PMC search

Who's working on it?

26

Distinct author names in 1 sampled paper — 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
    Beetz C1 paper · 2026

    Institute for Clinical and Laboratory Medicine, Jena University Hospital, Friedrich Schiller University, Am Klinikum 1, 07747, Jena, Germany.

    Papers in Europe PMC
  2. 02
    Bhaskara RM1 paper · 2026

    Institute of Biochemistry II, Goethe University School of Medicine, Theodor-Stern-Kai 7, 60590, Frankfurt am Main, Germany.

    Papers in Europe PMC
  3. 03
    Bock A1 paper · 2026

    Institute of Human Genetics, Jena University Hospital, Friedrich Schiller University, Am Klinikum 1, 07747, Jena, Germany.

    Papers in Europe PMC
  4. 04
    de Visser M1 paper · 2026

    Department of Neurology, Academic Medical Center, Amsterdam, The Netherlands.

    Papers in Europe PMC
  5. 05
    Đikić I1 paper · 2026

    Institute of Biochemistry II, Goethe University School of Medicine, Theodor-Stern-Kai 7, 60590, Frankfurt am Main, Germany.

    Papers in Europe PMC
  6. 06
    Franzka P1 paper · 2026

    Institute of Human Genetics, Jena University Hospital, Friedrich Schiller University, Am Klinikum 1, 07747, Jena, Germany.

    Papers in Europe PMC
  7. 07
    Heidari Horestani M1 paper · 2026

    Institute of Human Genetics, Jena University Hospital, Friedrich Schiller University, Am Klinikum 1, 07747, Jena, Germany.

    Papers in Europe PMC
  8. 08
    Huber O1 paper · 2026

    Institute for Biochemistry II, Jena University Hospital, Friedrich-Schiller-University, Nonnenplan 2-4, 07743, Jena, Germany.

    Papers in Europe PMC
  9. 09
    Hübner CA1 paper · 2026

    Institute of Human Genetics, Jena University Hospital, Friedrich Schiller University, Am Klinikum 1, 07747, Jena, Germany.

    Papers in Europe PMC
  10. 10
    Katona I1 paper · 2026

    Institute of Neuropathology, RWTH Aachen University Hospital, Pauwelsstr. 30, 52074, Aachen, Germany.

    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.

high 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.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

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

This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.

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.

"Autosomal recessive optic atrophy, OPA7 type" OR "TMEM126A-related optic atrophy with or without extraocular features"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Optic Atrophy 7

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

"Autosomal recessive optic atrophy, OPA7 type" OR "TMEM126A-related optic atrophy with or without extraocular features" OR "Optic Atrophy 7" OR "TMEM126A" OR "hereditary optic atrophy" OR "primary optic atrophy"

Recall-expansion terms: TMEM126A, hereditary optic atrophy, primary optic atrophy

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

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

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T09:59:57.163Z