EAST syndrome
Findings
No curated finding names EAST syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
SeSAME syndrome is characterized by seizures, sensorineural deafness, ataxia, intellectual deficit, and electrolyte imbalance (hypokalemia, metabolic alkalosis, and hypomagnesemia).
Definition from the Mondo Disease Ontology (MONDO:0013005), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
33 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AtaxiaHPOHP:0001251
- 5 of 5 reported patients
- Very frequent (80% to 99% of cases)
- Elevated serum bicarbonate concentrationHPOHP:0032067
- 5 of 5 reported patients
- Global developmental delayHPOHP:0001263
- 5 of 5 reported patients
- Very frequent (80% to 99% of cases)
- HypokalemiaHPOHP:0002900
- 5 of 5 reported patients
- Very frequent (80% to 99% of cases)
- Hypokalemic metabolic alkalosisHPOHP:0001960
- 5 of 5 reported patients
- HypomagnesemiaHPOHP:0002917
- 5 of 5 reported patients
Show the remaining 21
- Increased circulating aldosterone concentrationHPOHP:0000859
- Very frequent (80% to 99% of cases)
- Increased circulating renin concentrationHPOHP:0000848
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- Metabolic alkalosisHPOHP:0200114
- Very frequent (80% to 99% of cases)
- Renal magnesium wastingHPOHP:0005567
- Very frequent (80% to 99% of cases)
- Salt cravingHPOHP:0030083
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- KCNJ10HGNC:6256
- Definitive · ClinGen · Autosomal recessive · 2023
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Ambry Genetics · Autosomal recessive · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
3 names
Resolves to: EAST syndrome
- Also called
- seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndromeseizures, sensorineural deafness, ataxia, intellectual disability and electrolyte imbalancesesame syndrome