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ORPHA:284282

Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency

low confidenceDisorder

Also known as: Autosomal recessive spinocerebellar ataxia type 12 · SCAR12

Publications

2,976

Trials

0

Interventional, condition-specific

Researchers

612

Distinct authors in sample

Gene link

WWOX

Strong

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare cerebellar -- syndrome characterized by early-childhood onset of cerebellar associated with generalized tonic-clonic and psychomotor development delay, dysarthria, gaze-evoked nystagmus and learning disability. Other features in some patients include upper motor neuron signs with leg spasticity and extensor plantar responses, and mild cerebellar atrophy on brain MRI.

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.

Additional Mondo synonyms (7)

WWOX autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome · WWOX autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome · autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome caused by mutation in WWOX · autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome caused by mutation in WWOX · autosomal recessive spinocerebellar ataxia 12 · autosomal recessive spinocerebellar ataxia type 12 · spinocerebellar ataxia, autosomal recessive type 12

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 — WWOX

  2. LiteraturePresent

    2,976 matched papers (1,872 in last 10 years) Source

  3. Phenotype characterisedPresent

    27 HPO annotations (e.g. Nystagmus; Dysarthria; Hyporeflexia) Source

  4. Animal modelPresent

    1 genotype model (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 (WWOX).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

27

Associated phenotypes · MONDO:0013687

  • Nystagmus
  • Dysarthria
  • Hyporeflexia
  • Motor delay
  • Gait ataxia

Showing 5 of 27 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

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?

2,976

2,976 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

2,976 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).

1,872 in the last 10 years · low confidence

Phrase hits: 87 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

612

Distinct author names in 87 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
    Aqeilan RI12 papers · 2026

    Faculty of Medicine, The Lautenberg Center for Immunology and Cancer Research, Institute for Medical Research, Israel-Canada (IMRIC), Hebrew University of Jerusalem, Jerusalem, Israel.

    Papers in Europe PMC
  2. 02
    Aldaz CM6 papers · 2023

    Department of Molecular Carcinogenesis, Science Park, The University of Texas M.D. Anderson Cancer Center, Smithville, TX 78957, USA. Electronic address: maaldaz@mdanderson.org.

    Papers in Europe PMC
  3. 03
    Steinberg DJ6 papers · 2026

    The Concern Foundation Laboratories, The Lautenberg Center for Immunology and Cancer Research, Department of Immunology and Cancer Research-IMRIC, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem 91120, Israel.

    Papers in Europe PMC
  4. 04
    Bednarek AK5 papers · 2025

    Department of Molecular Carcinogenesis, Medical University of Łódź, Łódź, Poland.

    Papers in Europe PMC
  5. 05
    Kustanovich I5 papers · 2026

    Sagol Department of Neurobiology, University of Haifa, Haifa, Israel.

    Papers in Europe PMC
  6. 06
    Repudi S5 papers · 2026

    The Concern Foundation Laboratories, The Lautenberg Center for Immunology and Cancer Research, Immunology and Cancer Research-IMRIC, Hebrew University-Hadassah Medical School, Jerusalem, Israel.

    Papers in Europe PMC
  7. 07
    Stern S5 papers · 2026

    Sagol Department of Neurobiology, University of Haifa, Haifa, Israel.

    Papers in Europe PMC
  8. 08
    Abudiab B4 papers · 2026

    The Concern Foundation Laboratories, Department of Immunology and Cancer Research-IMRIC, The Lautenberg Center for Immunology and Cancer Research, Hebrew University-Hadassah Medical School, Jerusalem, Israel.

    Papers in Europe PMC
  9. 09
    Carlen PL4 papers · 2024

    Biomedical Engineering, University of Toronto, Toronto, ON, Canada.

    Papers in Europe PMC
  10. 10
    Hussain T4 papers · 2023

    Department of Epigenetics and Molecular Carcinogenesis, Science Park, The University of Texas MD Anderson Cancer Center, Smithville, TX, United States.

    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.

Broader category autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome also has no matched interventional trial. See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

Broader category: autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome

0

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Parent-category matching found a broader label but no interventional trials under it. How we count trials.

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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · 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).

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 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency — 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.

("Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency" OR "Autosomal recessive spinocerebellar ataxia type 12" OR "SCAR12" OR "WWOX autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome" OR "WWOX autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome" OR "autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome caused by mutation in WWOX" OR "autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome caused by mutation in WWOX" OR "autosomal recessive spinocerebellar ataxia 12" OR "spinocerebellar ataxia, autosomal recessive type 12") OR ("WWOX" OR "WWOX syndrome" OR "WWOX-related")

Run this search on Europe PMC

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

"Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency" OR "Autosomal recessive spinocerebellar ataxia type 12" OR "SCAR12" OR "WWOX autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome" OR "WWOX autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome" OR "autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome caused by mutation in WWOX" OR "autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome caused by mutation in WWOX" OR "autosomal recessive spinocerebellar ataxia 12" OR "spinocerebellar ataxia, autosomal recessive type 12"

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

Parent-category trials query:

"autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome"

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 (2976) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T12:02:42.309Z