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ORPHA:2717

Oculotrichoanal syndrome

low confidenceDisorder

Also known as: MOTA syndrome · Manitoba oculotrichoanal syndrome · Marles syndrome · Marles-Greenberg-Persaud syndrome

Publications

733

Trials

0

Interventional, condition-specific

Researchers

312

Distinct authors in sample

Gene link

FREM1

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Oculotrichoanal syndrome is a form of rare, multiple anomalies/ syndrome characterized by a combination of various nose, eye, gastrointestinal and genitourinary abnormalities. Clinical presentation is variable and often includes bifid and broad nasal tip, aberrant anterior hairline, coloboma, cryptophthalmos or unilateral anophthalmia, anal anomalies, and omphalocele. Intelligence and global development is normal.

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.

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.”

3/6 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 — FREM1

  2. LiteraturePresent

    733 matched papers (546 in last 10 years) Source

  3. Phenotype characterisedPresent

    25 HPO annotations (e.g. Microphthalmia; Nasolacrimal duct obstruction; Global developmental delay) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  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?

Yes — we know a specific gene responsible (FREM1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

25

Associated phenotypes · MONDO:0009560

  • Microphthalmia
  • Nasolacrimal duct obstruction
  • Global developmental delay
  • Corneopalpebral synechiae

Showing 4 of 25 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

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?

733

733 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.

733 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).

546 in the last 10 years · low confidence

Phrase hits: 51 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

312

Distinct author names in 51 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
    Li C4 papers · 2011

    Genetics and Metabolism Program, Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, Manitoba, Canada. chumei.li@utoronto.ca

    Papers in Europe PMC
  2. 02
    Liu Y4 papers · 2026

    Department of Genetics, Jiangxi Maternal and Child Health Hospital, 330006, Nanchang, China.

    Papers in Europe PMC
  3. 03
    Moosajee M4 papers · 2020

    UCL Institute of Ophthalmology, London EC1V 9EL, UK. m.moosajee@ucl.ac.uk.

    Papers in Europe PMC
  4. 04
    Slavotinek A4 papers · 2013

    Department of Pediatrics, Division of Clinical Genetics, University of California, San Francisco, California 94143-0748, USA. slatovia@peds.ucsf.edu

    Papers in Europe PMC
  5. 05
    Chudley AE3 papers · 2011
    Papers in Europe PMC
  6. 06
    Hildebrandt F3 papers · 2022

    Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts; Howard Hughes Medical Institute, Chevy Chase, Maryland friedhelm.hildebrandt@childrens.harvard.edu.

    Papers in Europe PMC
  7. 07
    Kiyozumi D3 papers · 2021

    Research Institute for Microbial Diseases, 3-1 Yamadaoka, Suita, Osaka 565-0871, Japan.

    Papers in Europe PMC
  8. 08
    Schanze D3 papers · 2017

    Institute of Human Genetics, University Hospital of Magdeburg, Magdeburg, Germany.

    Papers in Europe PMC
  9. 09
    Scott DA3 papers · 2022

    Texas Children's Hospital, Houston, Texas, USA.

    Papers in Europe PMC
  10. 10
    Smyth I3 papers · 2013
    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.

low 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.

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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · 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).

Uncertain / not reviewed (1)

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 Oculotrichoanal 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.

("Oculotrichoanal syndrome" OR "MOTA syndrome" OR "Manitoba oculotrichoanal syndrome" OR "Marles syndrome" OR "Marles-Greenberg-Persaud syndrome") OR ("FREM1" OR "FREM1 syndrome" OR "FREM1-related")

Run this search on Europe PMC

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

"Oculotrichoanal syndrome" OR "MOTA syndrome" OR "Manitoba oculotrichoanal syndrome" OR "Marles syndrome" OR "Marles-Greenberg-Persaud 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

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (733) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T20:56:45.347Z