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ORPHA:1766

Dysequilibrium syndrome

low confidenceDisorder

Also known as: CAMRQ syndrome · Cerebellar ataxia-intellectual disability-dysequilibrium syndrome · Non-progressive cerebellar ataxia-intellectual disability syndrome · UTS · Uner Tan syndrome

Publications

1,027

Trials

1

Interventional, condition-specific

Researchers

1,230

Distinct authors in sample

Gene link

ATP8A2, RIPPLY1

Definitive

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

Dysequilibrium syndrome (DES) is a non- cerebellar disorder characterized by associated with an , delayed ambulation and cerebellar hypoplasia.

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 (6)

cerebellar ataxia, mental retardation and dysequlibrium syndrome · cerebellar ataxia, mental retardation, and dysequilibrium · cerebellar ataxia-intellectual disability-dysequilibrium syndrome syndrome · dialysis dysequilibrium syndrome · dysequilibrium syndrome · non-progressive cerebellar ataxia-intellectual disability 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.”

5/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — ATP8A2, RIPPLY1

  2. LiteraturePresent

    1,027 matched papers (696 in last 10 years) Source

  3. Phenotype characterisedPresent

    90 HPO annotations (e.g. Poor speech; Short stature; Hypoplasia of the brainstem) Source

  4. Animal modelPresent

    6 genotype models (Danio rerio, 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 trialPresent

    1 matched on ClinicalTrials.gov (1 recruiting in sample)

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 (ATP8A2, RIPPLY1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

90

Associated phenotypes · MONDO:0009133

  • Poor speech
  • Short stature
  • Hypoplasia of the brainstem
  • Dysmetria
  • Pes planus

Showing 5 of 90 — open Monarch for the full list.

Animal models (Monarch / Alliance)

6

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?

1,027

1,027 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.

1,027 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).

696 in the last 10 years · low confidence

Phrase hits: 208 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,230

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Molday RS13 papers · 2025

    Department of Biochemistry and Molecular Biology, Centre for Macular Research, University of British Columbia, Vancouver, British Columbia, V6T 1Z3, Canada. molday@mail.ubc.ca.

    Papers in Europe PMC
  2. 02
    Tan U11 papers · 2017

    Cukurova University, Medical School, Department of Physiology, Adana, Turkey. unertan@cu.edu.tr

    Papers in Europe PMC
  3. 03
    Andersen JP8 papers · 2025

    Department of Biomedicine, Aarhus University, Ole Worms Allé 4, Bldg. 1160, DK-8000, Aarhus C, Denmark.

    Papers in Europe PMC
  4. 04
    Ali BR6 papers · 2020

    Department of Pathology, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates.

    Papers in Europe PMC
  5. 05
    Al-Gazali L5 papers · 2019

    Department of Paediatrics, College of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates.

    Papers in Europe PMC
  6. 06
    Molday LL5 papers · 2019

    Department of Biochemistry and Molecular Biology, Centre for Macular Research, University of British Columbia, Vancouver, British Columbia, V6T 1Z3, Canada.

    Papers in Europe PMC
  7. 07
    Boycott KM4 papers · 2009

    Department of Medical Genetics, Alberta Children's Hospital and University of Calgary, Alberta, Canada.

    Papers in Europe PMC
  8. 08
    Chen Y4 papers · 2026

    Movement Disorder and Neurogenetics Research Center, Department of Neurology, China-Japan Friendship Hospital, Beijing, 100029, People's Republic of China.

    Papers in Europe PMC
  9. 09
    Coleman JA4 papers · 2018

    Department of Biochemistry and Molecular Biology, University of British Columbia, Vancouver, BC V6T 1Z3, Canada.

    Papers in Europe PMC
  10. 10
    Gulsuner S4 papers · 2015

    Department of Molecular Biology and Genetics, Faculty of Science, Bilkent University, Ankara 06800, Turkey.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; 1 currently recruiting in our sample.

Data as of 11 September 2026 · last trial check 28 July 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

low confidence · 80.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

1 interventional trials matched after quoted-phrase search and title/condition post-filter.

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 Dysequilibrium 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.

("Dysequilibrium syndrome" OR "CAMRQ syndrome" OR "Cerebellar ataxia-intellectual disability-dysequilibrium syndrome" OR "Non-progressive cerebellar ataxia-intellectual disability syndrome" OR "Uner Tan syndrome" OR "cerebellar ataxia, mental retardation and dysequlibrium syndrome" OR "cerebellar ataxia, mental retardation, and dysequilibrium" OR "cerebellar ataxia-intellectual disability-dysequilibrium syndrome syndrome" OR "dialysis dysequilibrium syndrome") OR ("ATP8A2" OR "ATP8A2 syndrome" OR "ATP8A2-related" OR "RIPPLY1" OR "RIPPLY1 syndrome" OR "RIPPLY1-related")

Run this search on Europe PMC

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

"Dysequilibrium syndrome" OR "CAMRQ syndrome" OR "Cerebellar ataxia-intellectual disability-dysequilibrium syndrome" OR "Non-progressive cerebellar ataxia-intellectual disability syndrome" OR "Uner Tan syndrome" OR "cerebellar ataxia, mental retardation and dysequlibrium syndrome" OR "cerebellar ataxia, mental retardation, and dysequilibrium" OR "cerebellar ataxia-intellectual disability-dysequilibrium syndrome syndrome" OR "dialysis dysequilibrium syndrome"

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 1 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

Synonyms dropped by stoplist: UTS

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (1027) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T18:05:40.415Z