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ORPHA:94122

Cerebellar ataxia, Cayman type

high confidenceDisorder

Also known as: Cayman ataxia

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

302

67.6th percentile

Trials

0

Interventional, condition-specific

Researchers

838

Distinct authors in sample

Gene link

ATCAY

Strong

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare, , , cerebellar disorder characterized by from birth, marked psychomotor delay and prominent cerebellar dysfunction (manifesting with nystagmus, intention tremor, dysarthria, ataxic gait and truncal ), described in an isolated population of the Grand Cayman Island. Cerebellar hypoplasia, observed on CT scan, may be associated.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (2)

Cayman type cerebellar ataxia · ataxia, cerebellar, Cayman 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.”

4/6 stages with a signal

No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Strong — ATCAY

  2. LiteraturePresent

    302 matched papers (192 in last 10 years) Source

  3. Phenotype characterisedPresent

    29 HPO annotations (e.g. Global developmental delay; Generalized hypotonia; Cerebellar hypoplasia) 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?

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

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

29

Associated phenotypes · MONDO:0011025

  • Global developmental delay
  • Generalized hypotonia
  • Cerebellar hypoplasia
  • Intention tremor
  • Abnormal retinal morphology

Showing 5 of 29 — 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?

302

302 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.

302 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).

192 in the last 10 years · high confidence · 67.6th percentile (publications denominator)

Phrase hits: 138 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

838

Distinct author names in 138 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
    Burmeister M8 papers · 2016

    From the Program in Cellular and Molecular Biology (R.B., M.B.), Molecular & Behavioral Neuroscience Institute (R.B., K.M., M.B.), Departments of Human Genetics (J.X., W.P., J.Z.L., M.B.), Neurology (J.J.D.), Pediatrics (J.J.D.), and Psychiatry (M.B.), University of Michigan Medical Center, Ann Arbor; and Department of Neurology (Z.Y.), Division of Child Neurology, Istanbul Faculty of Medicine, Istanbul University, Turkey. J.J.D. is currently affiliated with the Division of Neurology and Program of Genetics and Genome Biology, Hospital for Sick Children, Departments of Pediatrics and Molecular Genetics, University of Toronto, Canada. margit@umich.edu.

    Papers in Europe PMC
  2. 02
    Bankaitis VA6 papers · 2025

    Department of Molecular and Cellular Medicine, Texas A&M Health Sciences Center, College Station, TX, 77843-1114, USA; Department of Biochemistry and Biophysics, Texas A&M University, College Station, TX, 77843-2128, USA; Department of Chemistry, Texas A&M University, College Station, TX, 77840, USA.

    Papers in Europe PMC
  3. 03
    Brais B5 papers · 2026

    Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, QC, Canada.

    Papers in Europe PMC
  4. 04
    Pellerin D5 papers · 2026

    Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, QC, Canada.

    Papers in Europe PMC
  5. 05
    Dodding MP4 papers · 2018

    Randall Centre of Cell and Molecular Biophysics, Faculty of Life Sciences and Medicine, King's College London, London, United Kingdom.

    Papers in Europe PMC
  6. 06
    Gold DR4 papers · 2026

    Departments of Neurology (DFG, AKB, EM, WM), Neurosurgery (DRG), Emergency Medicine (DRG), Ophthalmology (DRG), Otolaryngology-Head and Neck Surgery (WM) and Genetic Medicine (WM), Johns Hopkins University Medical School, Baltimore Maryland; and Departments of Neurology (NJA, ASF, CGS, JCR) and Ophthalmology (JCR), New York University Grossman School of Medicine, New York.

    Papers in Europe PMC
  7. 07
    Itoh M4 papers · 2018

    Department of Neurobiology, Gifu University Graduate School of Medicine, 1-1 Yanagido, Gifu, 501-1194, Japan.

    Papers in Europe PMC
  8. 08
    Low BC4 papers · 2024

    Department of Biological Sciences, National University of Singapore, Singapore  117543.

    Papers in Europe PMC
  9. 09
    Mu W4 papers · 2026

    Department of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA.

    Papers in Europe PMC
  10. 10
    Nakagawa T4 papers · 2018

    Department of Neurobiology, Gifu University Graduate School of Medicine, Gifu, Japan. Electronic address: tnakagaw@gifu-u.ac.jp.

    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.

General rare disease registries you may be eligible for

These studies enroll across many rare conditions. They are not counted as evidence that anyone is studying this specific disease.

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 2026-07-30

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 Cerebellar ataxia, Cayman type — 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.

("Cerebellar ataxia, Cayman type" OR "Cayman ataxia" OR "Cayman type cerebellar ataxia" OR "ataxia, cerebellar, Cayman type") OR (MESH:"Cerebellar Ataxia, Cayman Type") OR ("ATCAY" OR "ATCAY syndrome" OR "ATCAY-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Cerebellar Ataxia, Cayman Type

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

"Cerebellar ataxia, Cayman type" OR "Cayman ataxia" OR "Cayman type cerebellar ataxia" OR "ataxia, cerebellar, Cayman type"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: suspect — strategies attempted: phrase, mesh; 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 2026-07-27T04:39:07.976Z