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ORPHA:2318

Joubert syndrome with oculorenal defect

low confidenceSubtype of disorder

Also known as: Arima syndrome · CORS · Cerebellooculorenal syndrome · Dekaban-Arima syndrome · JS type B · JS-OR · Joubert syndrome with Senior-Loken syndrome

Publications

605,055

Trials

0

Interventional, condition-specific

Researchers

1,148

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare subtype of Joubert syndrome (JS) and related disorders (JSRD) characterized by the neurological features of JS associated with both renal and ocular disease.

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

Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    605,055 matched papers (265,016 in last 10 years) Source

  3. Phenotype characterisedPresent

    226 HPO annotations (e.g. Nephropathy; Intellectual disability; Long face) Source

  4. Animal modelPresent

    3 genotype models (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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

226

Associated phenotypes · MONDO:0009480

  • Nephropathy
  • Intellectual disability
  • Long face
  • Chorioretinal coloboma
  • Iris coloboma

Showing 5 of 226 — open Monarch for the full list.

Animal models (Monarch / Alliance)

3

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?

605,055

605,055 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

605,055 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).

265,016 in the last 10 years · low confidence

Phrase hits: 605,055 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,148

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
    Kim JS10 papers · 2026

    Department of Food Sciences, National Institute of Crop and Food Science, Rural Development Administration, Wanju-gun, Jeollabuk-do 55365, Republic of Korea.

    Papers in Europe PMC
  2. 02
    Park JS5 papers · 2026

    Division of Cardiology Incheon Sejong Hospital Incheon Republic of Korea.

    Papers in Europe PMC
  3. 03
    Kim S4 papers · 2026

    Comparative Ophthalmology, Department of Surgical and Radiological Sciences, School of Veterinary Medicine, University of California, Davis, Davis, California, USA.

    Papers in Europe PMC
  4. 04
    Lee JS4 papers · 2026

    Division of General Pediatric Surgery, Department of Surgery, Children's Hospital Los Angeles, Los Angeles, California.

    Papers in Europe PMC
  5. 05
    Wang Y4 papers · 2026

    School of Acupuncture-Moxibustion and Tuina, Beijing University of Chinese Medicine, Beijing 102401, People's Republic of China.

    Papers in Europe PMC
  6. 06
    Yang J4 papers · 2026

    Sichuan Provincial Key Laboratory for Human Disease Gene Study, Center of Medical Genetics, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, China.

    Papers in Europe PMC
  7. 07
    Lee J3 papers · 2026

    Department of Convergence Medicine, Korea University College of Medicine, Seoul 04763, Republic of Korea.

    Papers in Europe PMC
  8. 08
    Lee JH3 papers · 2026

    Department of Upland Crop Sciences, National Institute of Crop and Food Science, Rural Development Administration, Miryang-si, Gyeongsangnam-do 50424, Republic of Korea.

    Papers in Europe PMC
  9. 09
    Liu J3 papers · 2026

    Mayo Clinic, Phoenix, AZ.

    Papers in Europe PMC
  10. 10
    Ross JS3 papers · 2026

    Section of General Medicine, Department of Internal Medicine, Yale School of Medicine, New Haven, Connecticut, USA joseph.ross@yale.edu.

    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 Joubert syndrome with oculorenal defect — 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.

"Joubert syndrome with oculorenal defect" OR "Arima syndrome" OR "Cerebellooculorenal syndrome" OR "Dekaban-Arima syndrome" OR "JS type B" OR "JS-OR" OR "Joubert syndrome with Senior-Loken syndrome"

Run this search on Europe PMC

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

"Joubert syndrome with oculorenal defect" OR "Arima syndrome" OR "Cerebellooculorenal syndrome" OR "Dekaban-Arima syndrome" OR "JS type B" OR "JS-OR" OR "Joubert syndrome with Senior-Loken 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: CORS

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
  • Publication count (605055) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T19:50:07.915Z