ORPHA:2715
Severe oculo-renal-cerebellar syndrome
Also known as: Hunter-Jurenka-Thompson syndrome · ORC syndrome · Oculorenocerebellar syndrome
Publications
409
86.9th percentile
Trials
0
Interventional, condition-specific
Researchers
1,429
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare multiple anomalies/ syndrome characterized by profound , choreoathetosis, spastic diplegia, tapetoretinal degeneration with loss of retinal vessels, and glomerulopathy resulting in death late in the first or early in the second decade of life. Absence of the cerebellar granular layer has been reported. There have been no further descriptions in the literature since 1982.
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.
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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
409 matched papers (356 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
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?
409
409 papers have ever been published on this condition (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.
409 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).
356 in the last 10 years · medium confidence · 86.9th percentile (publications denominator)
Phrase hits: 409 · MeSH hits: 0
Who's working on it?
1,429
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.
- 01Liu X5 papers · 2023
Institute of Medical Biology, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.
Papers in Europe PMC - 02Li Y4 papers · 2021
Institute of Medical Biology, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.
Papers in Europe PMC - 03Liu Q3 papers · 2021
State Key Laboratory of Environmental Chemistry and Ecotoxicology, Research Center for Eco-Environmental Sciences, Chinese Academy of Sciences, Beijing 100085, China.
Papers in Europe PMC - 04Liu Y3 papers · 2025
College of Veterinary Medicine, Hebei Agricultural University, Baoding, China.
Papers in Europe PMC - 05Sharma S3 papers · 2025
St Peters Hospital Emergency Department, Ashford and Saint Peter's Hospitals NHS Trust, Chertsey, UK.
Papers in Europe PMC - 06Wang Y3 papers · 2024
Shanghai Health Commission Key Lab of Artificial Intelligence (AI)-Based Management of Inflammation and Chronic Diseases, Sino-French Cooperative Central Lab, Shanghai Pudong Gongli Hospital, Secondary Military Medical University, Shanghai 200135, PR China.
Papers in Europe PMC - 07Yang L3 papers · 2025
Department of Clinical Laboratory, Shanghai Gongli Hospital, the Second Military Medical University, Pudong New Area, Shanghai200135, PR China.
Papers in Europe PMC - 08Zhang S3 papers · 2025
College of Veterinary Medicine, Southwest University, Chongqing, China. Electronic address: 3466396106@qq.com.
Papers in Europe PMC - 09Zhang W3 papers · 2024
The Second Clinical College of Guangzhou University of Chinese Medicine, Guangzhou, China.
Papers in Europe PMC - 10Anguita-Santos F2 papers · 2021
Servicio de Enfermedades Infecciosas, Hospital Universitario San Cecilio, Granada, Spain.
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.
medium 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.
"Severe oculo-renal-cerebellar syndrome" OR "Hunter-Jurenka-Thompson syndrome" OR "ORC syndrome" OR "Oculorenocerebellar syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Severe oculo-renal-cerebellar syndrome" OR "Hunter-Jurenka-Thompson syndrome" OR "ORC syndrome" OR "Oculorenocerebellar 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 multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- Publication count (409) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium
Ingested 2026-07-26T20:56:26.152Z