Nephrology · Nephrology / Tubular disorders
EAST syndrome
also: epilepsy, ataxia, sensorineural deafness and tubulopathy; SeSAME syndrome
Epilepsy, ataxia, sensorineural deafness and tubulopathy with hypokalemic alkalosis and hypomagnesemia.
- Specialty
- Nephrology
- Subspecialty
- Nephrology / Tubular disorders
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes, infancy
- Gene(s) involved
- KCNJ10
- Alternative names & eponyms
- epilepsy, ataxia, sensorineural deafness and tubulopathy; SeSAME syndrome
Etiology & mechanism
Loss of the inward rectifier potassium channel Kir4.1 in brain, inner ear and distal tubule.
Gene(s) involved (1)
Symptoms & signs (9)
In plain terms, someone with EAST syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
3 shared
Bartter syndrome
hypokalemia, metabolic alkalosis, muscle weakness
3 shared
Gitelman syndrome
hypokalemia, hypomagnesemia, muscle weakness
3 shared
Liddle syndrome
hypokalemia, metabolic alkalosis, muscle weakness
3 shared
Refeeding syndrome
hypokalemia, hypomagnesemia, seizures
2 shared
Action myoclonus–renal failure syndrome
ataxia, seizures
2 shared
Angelman syndrome
ataxia, seizures
2 shared
Barakat syndrome
seizures, sensorineural deafness
2 shared
Borjeson–Forssman–Lehmann syndrome
intellectual disability, seizures
2 shared
Brown–Vialetto–Van Laere syndrome
ataxia, sensorineural deafness
2 shared
Cardiofaciocutaneous syndrome
intellectual disability, seizures
Shares genes with
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