ORPHA:199343
EAST syndrome
Also known as: Epilepsy-ataxia-sensorineural deafness-tubulopathy syndrome · Epilepsy-ataxia-sensorineural hearing loss-tubulopathy syndrome · SeSAME syndrome · Seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome · Seizures-sensorineural hearing loss-ataxia-intellectual disability-electrolyte imbalance syndrome
Publications
380
82.3th percentile
Trials
0
Interventional, condition-specific
Researchers
1,098
Distinct authors in sample
Gene link
KCNJ10
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic disease characterized by the association of , , sensorineural hearing impairment, and renal tubulopathy. Patients present in infancy with generalized , cerebellar dysfunction (including gait , intention tremor, and dysdiadochokinesis), and variable and sensorineural hearing loss. Laboratory studies show persistent hypokalemic with hypomagnesemia. Additional reported neurologic features include brisk deep tendon reflexes, ankle clonus, extensor plantar responses, or nystagmus.
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:0013005
- MeSH:C557674
- OMIM:612780
- UMLS:C2748572
Additional Mondo synonyms (3)
seizures, sensorineural deafness, ataxia, intellectual disability and electrolyte imbalance · seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome · sesame 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.”
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 — KCNJ10
- LiteraturePresent
380 matched papers (257 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 (KCNJ10).
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?
380
380 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.
380 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).
257 in the last 10 years · medium confidence · 82.3th percentile (publications denominator)
Phrase hits: 380 · MeSH hits: 4
Who's working on it?
1,098
Distinct author names in 200 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.
- 01Bockenhauer D16 papers · 2021
Department of Renal Medicine, University College London, NW3 2PF, London, UK. d.bockenhauer@ucl.ac.uk.
Papers in Europe PMC - 02Kleta R15 papers · 2021
Department of Renal Medicine, University College London, NW3 2PF, London, UK.
Papers in Europe PMC - 03
- 04Staruschenko A9 papers · 2024
Department of Physiology, Medical College of Wisconsin, Milwaukee, Wisconsin, United States.
Papers in Europe PMC - 05Wang WH9 papers · 2026
Department of Pharmacology, New York Medical College, Valhalla, New York wenhui_wang@nymc.edu.
Papers in Europe PMC - 06Zdebik AA8 papers · 2022
Department of Neuroscience, Physiology and Pharmacology, University College London, London, United Kingdom ; Centre for Nephrology, University College London, London, United Kingdom.
Papers in Europe PMC - 07Palygin O7 papers · 2023
Department of Physiology, Medical College of Wisconsin, Milwaukee, Wisconsin, United States.
Papers in Europe PMC - 08Zhang C7 papers · 2023
Jiangsu Province Key Laboratory of Anesthesiology, Xuzhou Medical College, Xuzhou, Jiangsu, China; and Department of Pharmacology, New York Medical College, Valhalla, New York.
Papers in Europe PMC - 09Su XT6 papers · 2019
Department of Pharmacology, New York Medical College, Valhalla, New York.
Papers in Europe PMC - 10Warth R6 papers · 2022
Medical Cell Biology, University of Regensburg, Regensburg, Germany.
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.
medium 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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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.
"EAST syndrome" OR "Epilepsy-ataxia-sensorineural deafness-tubulopathy syndrome" OR "Epilepsy-ataxia-sensorineural hearing loss-tubulopathy syndrome" OR "SeSAME syndrome" OR "Seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome" OR "Seizures-sensorineural hearing loss-ataxia-intellectual disability-electrolyte imbalance syndrome" OR "seizures, sensorineural deafness, ataxia, intellectual disability and electrolyte imbalance"
MeSH descriptor terms unioned into the query: SeSAME syndrome
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"EAST syndrome" OR "Epilepsy-ataxia-sensorineural deafness-tubulopathy syndrome" OR "Epilepsy-ataxia-sensorineural hearing loss-tubulopathy syndrome" OR "SeSAME syndrome" OR "Seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome" OR "Seizures-sensorineural hearing loss-ataxia-intellectual disability-electrolyte imbalance syndrome" OR "seizures, sensorineural deafness, ataxia, intellectual disability and electrolyte imbalance" OR "KCNJ10"
Recall-expansion terms: KCNJ10
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is short or not clearly distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T09:14:19.369Z