RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:314404

Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome

low confidenceDisorder

Also known as: ADCA-DN syndrome · Autosomal dominant cerebellar ataxia-hearing loss-narcolepsy syndrome

Publications

31,652

Trials

0

Interventional, condition-specific

Researchers

892

Distinct authors in sample

Gene link

DNMT1

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare polymorphic disorder, subtype of cerebellar type 1 (ADCA type 1), characterized by , sensorineural deafness and narcolepsy with cataplexy and dementia.

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 (1)

autosomal dominant cerebellar ataxia, deafness and narcolepsy

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.”

3/6 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.

  1. Gene identifiedPresent

    Definitive — DNMT1

  2. LiteraturePresent

    31,652 matched papers (22,389 in last 10 years) Source

  3. Phenotype characterisedPresent

    47 HPO annotations (e.g. Nystagmus; Pseudobulbar signs; Atrophy/Degeneration affecting the brainstem) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  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 (DNMT1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

47

Associated phenotypes · MONDO:0011397

  • Nystagmus
  • Pseudobulbar signs
  • Atrophy/Degeneration affecting the brainstem
  • Sensorineural hearing impairment
  • Neuronal loss in central nervous system

Showing 5 of 47 — 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?

31,652

31,652 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

31,652 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).

22,389 in the last 10 years · low confidence

Phrase hits: 112 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

892

Distinct author names in 112 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
    Sadikovic B15 papers · 2025

    Department of Pathology and Laboratory Medicine, Western University, London, ON N6A5C1, Canada; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A5W9, Canada. Electronic address: bekim.sadikovic@lhsc.on.ca.

    Papers in Europe PMC
  2. 02
    Mignot E9 papers · 2023

    Department of Psychiatry and Behavioral Sciences, Stanford University, CA, USA. mignot@leland.stanford.edu

    Papers in Europe PMC
  3. 03
    Aref-Eshghi E8 papers · 2021

    Department of Pathology and Laboratory Medicine, Western University, London, ON N6A5C1, Canada; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A5W9, Canada.

    Papers in Europe PMC
  4. 04
    Kerkhof J7 papers · 2023

    Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A5W9, Canada.

    Papers in Europe PMC
  5. 05
    Alders M6 papers · 2025

    Amsterdam University Medical Center, University of Amsterdam, Department of Clinical Genetics, Amsterdam Reproduction and Development Research Institute, Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands.

    Papers in Europe PMC
  6. 06
    Ainsworth P5 papers · 2018

    Department of Pathology and Laboratory Medicine, Western University, London, ON N6A5C1, Canada; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A5W9, Canada.

    Papers in Europe PMC
  7. 07
    Carelli V5 papers · 2020

    IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Clinica Neurologica, Bologna 40139, Italy.

    Papers in Europe PMC
  8. 08
    Klein CJ5 papers · 2020

    4 Peripheral Neuropathy Research Laboratory, Mayo Clinic, Rochester, MN, USA 6 Department of Laboratory Medicine and Pathology, Mayo Clinic Rochester MN, USA 23 Department of Medical Genetics, Mayo Clinic Rochester MN, USA klein.christopher@mayo.edu.

    Papers in Europe PMC
  9. 09
    Levy MA5 papers · 2025

    Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A5W9, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A3K7, Canada.

    Papers in Europe PMC
  10. 10
    Lin L5 papers · 2023

    13 Centre for Sleep Sciences and Medicine, Department of Psychiatry and Department of Genetics, Stanford University School of Medicine, Palo Alto, CA, 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 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 dominant cerebellar ataxia 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 dominant cerebellar ataxia

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 dominant cerebellar ataxia-deafness-narcolepsy syndrome — 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 dominant cerebellar ataxia-deafness-narcolepsy syndrome" OR "ADCA-DN syndrome" OR "Autosomal dominant cerebellar ataxia-hearing loss-narcolepsy syndrome" OR "autosomal dominant cerebellar ataxia, deafness and narcolepsy") OR ("DNMT1" OR "DNMT1 syndrome" OR "DNMT1-related")

Run this search on Europe PMC

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

"Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome" OR "ADCA-DN syndrome" OR "Autosomal dominant cerebellar ataxia-hearing loss-narcolepsy syndrome" OR "autosomal dominant cerebellar ataxia, deafness and narcolepsy"

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

Parent-category trials query:

"autosomal dominant cerebellar ataxia"

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 (31652) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T13:06:25.468Z