ORPHA:1125
Ocular motor apraxia, Cogan type
Also known as: Oculomotor apraxia, Cogan type
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
3
7th percentile
Trials
0
Interventional, condition-specific
Researchers
7
Distinct authors in sample
Gene link
SUFU
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Ocular motor apraxia, Cogan type is characterised by impairment of voluntary horizontal eye movements and compensatory head thrust. Around 50 cases have been described so far. The oculomotor manifestations tend to improve with age but the syndrome may also be associated with learning and speech difficulties, or, in some cases, cerebral malformations. Both sporadic and familial forms have been described, with sporadic forms being more frequent. The mode of transmission of the familial form has not yet been clearly established. A gene located on the long arm of chromosome 2, near to the NPHP1 gene involved in nephronophthisis, may be associated with ocular motor apraxia, Cogan type.
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0009764
- MeSH:C537423
- OMIM:257550
- UMLS:C0543874
Additional Mondo synonyms (2)
oculomotor apraxia, Cogan type · oculomotor apraxia, congenital, Cogan-type
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.
- Gene identifiedPresent
Strong — SUFU
- LiteraturePresent
3 matched papers (1 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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 (SUFU).
GenCC classification: Strong.
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?
3
3 papers 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.
3 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: 3 · MeSH hits: 0
Who's working on it?
7
Distinct author names in 3 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.
- 01Gleeson JG1 paper · 2011
Department of Neurosciences and Paediatrics, University of California, San Diego, La Jolla, CA, USA.
Papers in Europe PMC - 02Jan JE1 paper · 1997Papers in Europe PMC
- 03Kim M1 paper · 2025
Department of Ophthalmology, Seoul National University College of Medicine, Seoul, South Korea.
Papers in Europe PMC - 04Kim US1 paper · 2025
Department of Ophthalmology, Chung-Ang University, College of Medicine, Seoul, South Korea. ungsookim@cau.ac.kr.
Papers in Europe PMC - 05Poskitt KJ1 paper · 1997Papers in Europe PMC
- 06Sargent MA1 paper · 1997
Department of Radiology, British Columbia's Children's Hospital, Vancouver, Canada.
Papers in Europe PMC - 07Sattar S1 paper · 2011
Department of Neurosciences and Paediatrics, University of California, San Diego, La Jolla, CA, USA.
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 2026-07-26This 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.
"Ocular motor apraxia, Cogan type" OR "Oculomotor apraxia, Cogan type" OR "oculomotor apraxia, congenital, Cogan-type"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Ocular motor apraxia, Cogan type" OR "Oculomotor apraxia, Cogan type" OR "oculomotor apraxia, congenital, Cogan-type" OR "SUFU"
Recall-expansion terms: SUFU
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
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 2026-07-26T16:28:13.160Z