ORPHA:1766
Dysequilibrium syndrome
Also known as: CAMRQ syndrome · Cerebellar ataxia-intellectual disability-dysequilibrium syndrome · Non-progressive cerebellar ataxia-intellectual disability syndrome · UTS · Uner Tan syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
208
Trials
1
Interventional, condition-specific
Researchers
1,230
Distinct authors in sample
Gene link
ATP8A2, RIPPLY1
Definitive
Readiness
3/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0009133
- MeSH:C535731
- UMLS:C0394006
- NCIT:C114781
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.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — ATP8A2, RIPPLY1
- LiteraturePresent
208 matched papers (95 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 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)
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?
208
208 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.
208 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).
95 in the last 10 years · low confidence
Phrase hits: 208 · MeSH hits: 0
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.
- 01Molday 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 - 02Tan U11 papers · 2017
Cukurova University, Medical School, Department of Physiology, Adana, Turkey. unertan@cu.edu.tr
Papers in Europe PMC - 03Andersen JP8 papers · 2025
Department of Biomedicine, Aarhus University, Ole Worms Allé 4, Bldg. 1160, DK-8000, Aarhus C, Denmark.
Papers in Europe PMC - 04Ali 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 - 05Al-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 - 06Molday 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 - 07Boycott KM4 papers · 2009
Department of Medical Genetics, Alberta Children's Hospital and University of Calgary, Alberta, Canada.
Papers in Europe PMC - 08Chen 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 - 09Coleman JA4 papers · 2018
Department of Biochemistry and Molecular Biology, University of British Columbia, Vancouver, BC V6T 1Z3, Canada.
Papers in Europe PMC - 10Gulsuner 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 27 July 2026
1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).
low confidence · 76.8th 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.
- NCT06366230·RECRUITING·Adding Urea to the Final Dialysis Fluid
Conditions: Dysequilibrium Syndrome · ESRD · Hyperkalemia · Metabolic Acidosis·Matched via name phrase
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.
"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"
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" OR "ATP8A2" OR "RIPPLY1"
Recall-expansion terms: ATP8A2, RIPPLY1
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: suspect — strategies attempted: phrase, recall-expansion; 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
Ingested 2026-07-26T18:05:40.415Z