ORPHA:3177
Spinocerebellar degeneration-corneal dystrophy syndrome
Also known as: Der Kaloustian-Jarudi-Khoury syndrome
Publications
47
38.3th percentile
Trials
0
Interventional, condition-specific
Researchers
225
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic, neurological disorder characterized by the association of slowly spinocerebellar degeneration and corneal , manifesting with bilateral corneal opacities (which lead to severe visual impairment), mild , , gait disturbances, and tremor. Additional manifestations include facial dysmorphism (i.e. triangular face, ptosis, low-set, posteriorly angulated ears, and micrognathia), as well as mild upper motor neuron involvement with , lower limb hyperreflexia and extensor plantar responses. There have been no further descriptions in the literature since 1985.
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:0010063
- MeSH:C535472
- OMIM:271310
- UMLS:C1849087
Additional Mondo synonyms (2)
corneal-cerebellar syndrome · spinocerebellar degeneration-corneal dystrophy 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.”
2/6 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
47 matched papers (24 in last 10 years) Source
- Phenotype characterisedPresent
16 HPO annotations (e.g. Corneal dystrophy; Spinocerebellar tract degeneration; Dorsal column degeneration) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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)
16
Associated phenotypes · MONDO:0010063
- Corneal dystrophy
- Spinocerebellar tract degeneration
- Dorsal column degeneration
- Visual impairment
- Progressive cerebellar ataxia
Showing 5 of 16 — 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?
47
47 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=3967) is 59.
47 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).
24 in the last 10 years · high confidence · 38.3th percentile (publications denominator)
Phrase hits: 47 · MeSH hits: 0
Who's working on it?
225
Distinct author names in 47 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.
- 01Cao X3 papers · 2022
Department of Ophthalmology, Peking University People's Hospital and Key Laboratory of Vision Loss and Restoration, Ministry of Education and Beijing Key Laboratory for the Diagnosis and Treatment of Retinal and Choroid Diseases, Beijing 100044, China; People Eye Center, Peking University People's Hospital, No. 11 Xizhimen South Street, Xicheng District, Beijing 100044, China.
Papers in Europe PMC - 02Burtsev AA2 papers · 2016
Department of Eye Diseases, Federal State Budgetary Institution "National Pirogov Medical Surgical Centre", Ministry of Health, Moscow, Russia.
Papers in Europe PMC - 03Kornilovskiy IM2 papers · 2016
Department of Eye Diseases, Federal State Budgetary Institution "National Pirogov Medical Surgical Centre", Ministry of Health, Moscow, Russia.
Papers in Europe PMC - 04Li X2 papers · 2022
Department of Ophthalmology, Peking University People's Hospital and Key Laboratory of Vision Loss and Restoration, Ministry of Education and Beijing Key Laboratory for the Diagnosis and Treatment of Retinal and Choroid Diseases, Beijing 100044, China; Department of Ophthalmology, Peking University International Hospital, Beijing 102206, China; People Eye Center, Peking University People's Hospital, No. 11 Xizhimen South Street, Xicheng District, Beijing 100044, China.
Papers in Europe PMC - 05Sultanova AI2 papers · 2016
Department of Eye Diseases, Zarifa Aliyeva National Ophthalmology Center, Ministry of Health, Baku, Azerbaijan.
Papers in Europe PMC - 06Abukerimova AK1 paper · 2023
Krasnov Research Institute of Eye Diseases, Moscow, Russia.
Papers in Europe PMC - 07Acquaviva A1 paper · 2024
Department of Ophthalmology, Di Venere's Hospital of Bari, Bari City, Italy.
Papers in Europe PMC - 08Aldave AJ1 paper · 2008Papers in Europe PMC
- 09Antonellis PJ1 paper · 2021
Department of Biology, Indiana University-Purdue University Indianapolis, Indianapolis, IN, USA.
Papers in Europe PMC - 10Ávila FJ1 paper · 2022
Departamento de Física Aplicada, Universidad de Zaragoza, C/ Pedro Cerbuna, 12, 50009, Zaragoza, Spain. avila@unizar.es.
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.
high 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 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 Spinocerebellar degeneration-corneal dystrophy syndrome — check Associations / patient organisations on that page.
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.
"Spinocerebellar degeneration-corneal dystrophy syndrome" OR "Der Kaloustian-Jarudi-Khoury syndrome" OR "corneal-cerebellar syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Spinocerebellar degeneration-corneal dystrophy syndrome" OR "Der Kaloustian-Jarudi-Khoury syndrome" OR "corneal-cerebellar 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
Ingested 2026-07-26T22:24:06.051Z