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ORPHA:782

Axenfeld-Rieger syndrome

medium confidenceDisorder

Also known as: Axenfeld syndrome · Rieger syndrome

Publications

2,061

88.4th percentile

Trials

0

Interventional, condition-specific

Researchers

980

Distinct authors in sample

Gene link

PRDM5

Limited

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable anomalies.

How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (2)

ARS · Axenfeldt-Rieger syndrome

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.”

4/6 stages with a signal

No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Limited — PRDM5

  2. LiteraturePresent

    2,061 matched papers (1,233 in last 10 years) Source

  3. Phenotype characterisedPresent

    83 HPO annotations (e.g. Abnormal anterior chamber morphology; Posterior embryotoxon; Aplasia/Hypoplasia of the iris) Source

  4. Animal modelPresent

    16 genotype models (Danio rerio, Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  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?

Possibly — only limited evidence so far for PRDM5.

GenCC classification: Limited.

Phenotypes (Monarch / HPO)

83

Associated phenotypes · MONDO:0019187

  • Abnormal anterior chamber morphology
  • Posterior embryotoxon
  • Aplasia/Hypoplasia of the iris
  • Everted lower lip vermilion
  • Hearing impairment

Showing 5 of 83 — open Monarch for the full list.

Animal models (Monarch / Alliance)

16

Model associations linked to this Mondo ID

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

2,061

2,061 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

2,061 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

1,233 in the last 10 years · medium confidence · 88.4th percentile (publications denominator)

Phrase hits: 1,329 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

980

Distinct author names in 200 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
    Reis LM8 papers · 2025

    Department of Ophthalmology and Visual Sciences, Medical College of Wisconsin, 8701 Watertown Plank Road, Milwaukee, WI, 53226, USA. Electronic address: lreis@mcw.edu.

    Papers in Europe PMC
  2. 02
    Semina EV8 papers · 2025

    Department of Ophthalmology and Visual Sciences, Medical College of Wisconsin, 8701 Watertown Plank Road, Milwaukee, WI, 53226, USA; Department of Pediatrics and Children's Research Institute, Medical College of Wisconsin and Children's Wisconsin, 8701 Watertown Plank Road, Milwaukee, WI, 53226, USA; Department of Cell Biology, Neurobiology and Anatomy, Medical College of Wisconsin, 8701 Watertown Plank Road, Milwaukee, WI, 53226, USA. Electronic address: esemina@mcw.edu.

    Papers in Europe PMC
  3. 03
    Zhang Y8 papers · 2025

    Department of Ophthalmology and Visual Science, Eye and ENT Hospital, Shanghai Medical College, Fudan University, Shanghai, China.

    Papers in Europe PMC
  4. 04
    Bohnsack BL7 papers · 2026

    Department of Ophthalmology, Northwestern University Feinberg School of Medicine, 645 N. Michigan Ave, Chicago, IL, 60611, USA. bbohnsack@luriechildrens.org.

    Papers in Europe PMC
  5. 05
    Craig JE7 papers · 2026

    Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, South Australia, Australia.

    Papers in Europe PMC
  6. 06
    Souzeau E7 papers · 2026

    Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, South Australia, Australia.

    Papers in Europe PMC
  7. 07
    Siggs OM6 papers · 2026

    Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, South Australia, Australia.

    Papers in Europe PMC
  8. 08
    Gupta S5 papers · 2025

    Dr Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, Delhi, India dr.shikhagupta84@gmail.com.

    Papers in Europe PMC
  9. 09
    Hong J5 papers · 2024

    Department of Ophthalmology, Peking University Third Hospital, Beijing 100191, China.

    Papers in Europe PMC
  10. 10
    Liu Y5 papers · 2026

    Department of Ophthalmology, the Second Affiliated Hospital of Xi'an Medical University, Xi'an 710038, Shaanxi Province, China.

    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 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

medium confidence · 38.6th 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.

General rare disease registries you may be eligible for

These studies enroll across many rare conditions. They are not counted as evidence that anyone is studying this specific disease.

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-29

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Axenfeld-Rieger syndrome — check Associations / patient organisations on that page.

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.

("Axenfeld-Rieger syndrome" OR "Axenfeld syndrome" OR "Rieger syndrome" OR "Axenfeldt-Rieger syndrome") OR ("PRDM5" OR "PRDM5 syndrome" OR "PRDM5-related")

Run this search on Europe PMC

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

"Axenfeld-Rieger syndrome" OR "Axenfeld syndrome" OR "Rieger syndrome" OR "Axenfeldt-Rieger syndrome"

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

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: ARS

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 2026-07-26T15:20:47.074Z