ORPHA:404493
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency
Also known as: SCAR23 · Spinocerebellar ataxia autosomal recessive type 23
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
72
58.8th percentile
Trials
0
Interventional, condition-specific
Researchers
473
Distinct authors in sample
Gene link
TDP2
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare characterized by an early onset symptomatic generalized , cerebellar resulting in significant difficulties to walk or wheelchair dependency, and .
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:0014846
- OMIM:616949
- UMLS:C4750914
Additional Mondo synonyms (4)
autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to TUD deficiency · spinocerebellar ataxia autosomal recessive type 23 · spinocerebellar ataxia, autosomal recessive 23 · spinocerebellar ataxia, autosomal recessive type 23
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
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Definitive — TDP2
- LiteraturePresent
72 matched papers (66 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?
Yes — we know a specific gene responsible (TDP2).
GenCC classification: Definitive.
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?
72
72 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.
72 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).
66 in the last 10 years · high confidence · 58.8th percentile (publications denominator)
Phrase hits: 72 · MeSH hits: 0
Who's working on it?
473
Distinct author names in 72 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.
- 01Caldecott KW4 papers · 2023
Genome Damage and Stability Centre, University of Sussex, Falmer, Brighton, BN1 9RQ, United Kingdom.
Papers in Europe PMC - 02Zagnoli-Vieira G4 papers · 2023
Genome Damage and Stability Centre, University of Sussex, Falmer, Brighton, BN1 9RQ, United Kingdom.
Papers in Europe PMC - 03Pommier Y3 papers · 2020
Developmental Therapeutics Branch & Laboratory of Molecular Pharmacology, Center for Cancer Research, National Cancer Institute, NIH, Bethesda, MD 20892, United States. Electronic address: pommier@nih.gov.
Papers in Europe PMC - 04Agbaga MP2 papers · 2018
Oklahoma Center for Neurosciences, University of Oklahoma Health Sciences Center, Oklahoma City, OK, 73104, USA. martin-paul-agbaga@ouhsc.edu.
Papers in Europe PMC - 05Anderson RE2 papers · 2018
Oklahoma Center for Neurosciences, University of Oklahoma Health Sciences Center, Oklahoma City, OK, 73104, USA. robert-anderson@ouhsc.edu.
Papers in Europe PMC - 06Beaudin M2 papers · 2019
Axe Neurosciences, CHU de Québec-Université Laval, Québec, QC, Canada.
Papers in Europe PMC - 07Chan CC2 papers · 2025
Department of Physiology, College of Medicine, National Taiwan University, Taipei, 100, Taiwan. chancc1@ntu.edu.tw.
Papers in Europe PMC - 08Cheng KM2 papers · 2025
Department of Physiology, College of Medicine, National Taiwan University, Taipei, 100, Taiwan.
Papers in Europe PMC - 09Fu SJ2 papers · 2025
Department of Physiology, College of Medicine, National Taiwan University, Taipei, 100, Taiwan.
Papers in Europe PMC - 10Hopiavuori BR2 papers · 2018
Oklahoma Center for Neurosciences, University of Oklahoma Health Sciences Center, Oklahoma City, OK, 73104, USA.
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.
high 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.
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.
- NCT01793168·RECRUITING·Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Conditions: Rare Disorders · Undiagnosed Disorders · Disorders of Unknown Prevalence · Cornelia De Lange Syndrome
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.
"Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency" OR "SCAR23" OR "Spinocerebellar ataxia autosomal recessive type 23" OR "autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to TUD deficiency" OR "spinocerebellar ataxia, autosomal recessive 23" OR "spinocerebellar ataxia, autosomal recessive type 23"
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 TUD deficiency" OR "SCAR23" OR "Spinocerebellar ataxia autosomal recessive type 23" OR "autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to TUD deficiency" OR "spinocerebellar ataxia, autosomal recessive 23" OR "spinocerebellar ataxia, autosomal recessive type 23" OR "TDP2"
Recall-expansion terms: TDP2
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: suspect — strategies attempted: phrase, recall-expansion; 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 2026-07-27T15:35:09.238Z