{"orpha":199343,"name":"EAST syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["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"],"definition":"A rare genetic disease characterized by the association of epilepsy, ataxia, sensorineural hearing impairment, and renal tubulopathy. Patients present in infancy with generalized seizures, cerebellar dysfunction (including gait ataxia, intention tremor, and dysdiadochokinesis), and variable developmental delay and sensorineural hearing loss. Laboratory studies show persistent hypokalemic metabolic acidosis with hypomagnesemia. Additional reported neurologic features include brisk deep tendon reflexes, ankle clonus, extensor plantar responses, or nystagmus.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-199343/","orphanet_url":"https://www.orpha.net/en/disease/detail/199343","names":{"fr":{"name":"Syndrome EAST","synonyms":["Syndrome SeSAME","Syndrome d'epilepsie-ataxie-surdité neurosensorielle-tubulopathie","Syndrome d'épilepsie-surdité neurosensorielle-ataxie-déficience intellectuelle-déséquilibre électrolytique"],"definition":"Maladie génétique rare caractérisée par l'association d'une épilepsie, d'une ataxie, d'une surdité neurosensorielle et d'une tubulopathie rénale. Dans la petite enfance, les patients présentent des crises généralisées, un dysfonctionnement cérébelleux (y compris une ataxie de la marche, un tremblement intentionnel et une dysdiadochokinésie), ainsi qu'un retard de développement variable et une surdité neurosensorielle. Les analyses biologiques montrent une acidose métabolique hypokaliémique persistante avec hypomagnésémie. Parmi les autres caractéristiques neurologiques rapportées figurent des réflexes tendineux profonds vifs, un clonus de la cheville, le signe de Babinski ou un nystagmus."},"de":{"name":"EAST-Syndrom","synonyms":["Epilepsie-Ataxie-sensorineurale Schwerhörigkeit-Tubulopathie-Syndrom","Krämpfe - sensorineurale Schwerhörigkeit - Ataxie - intelligenzminderung - Elektrolytimbalance","SeSAME-Syndrom"],"definition":"Eine seltene genetische Erkrankung, die durch das Zusammentreffen von Epilepsie, Ataxie, Innenohrschwerhörigkeit und Nierentubulopathie gekennzeichnet ist. Die Patienten präsentieren sich im Säuglingsalter mit generalisierten Anfällen, zerebellären Funktionsstörungen (einschließlich Gangataxie, Intentionstremor und Dysdiadochokinese) sowie variablen Entwicklungsverzögerungen und sensorineuraler Schwerhörigkeit. Laboruntersuchungen zeigen eine anhaltende hypokaliämische metabolische Azidose mit Hypomagnesiämie. Zu den zusätzlich berichteten neurologischen Merkmalen gehören lebhafte tiefe Sehnenreflexe, Knöchelklonus, extensorische Plantarreflexe oder Nystagmus."},"es":{"name":"Síndrome EAST","synonyms":["Síndrome SeSAME","Síndrome de convulsiones-hipoacusia neurosensorial-ataxia-discapacidad intelectual-desequilibrio electrolítico","Síndrome de convulsiones-sordera neurosensorial-ataxia-discapacidad intelectual-desequilibrio electrolítico","Síndrome de epilepsia-ataxia-hipoacusia neurosensorial-tubulopatía","Síndrome de epilepsia-ataxia-sordera neurosensorial-tubulopatía"],"definition":"Es una enfermedad poco frecuente de origen genético caracterizada por la asociación de epilepsia, ataxia, discapacidad auditiva neurosensorial y tubulopatía renal. Debuta en el periodo de lactancia con convulsiones generalizadas, disfunción cerebelosa (incluyendo ataxia de la marcha, temblor de intención y disdiadococinesis), así como retraso variable del desarrollo y sordera neurosensorial. Las pruebas bioquímicas muestran acidosis metabólica hipocalémica persistente con hipomagnesemia. Otros rasgos neurológicos descritos son: reflejos tendinosos profundos vivos, clonus del tobillo, respuesta plantar extensora o nistagmo."},"it":{"name":"Sindrome EAST","synonyms":["Convulsioni - sordità neurosensoriale - atassia - deficit cognitivo - squilibrio elettrolitico","Sindrome SeSAME"],"definition":"Si tratta di una malattia genetica rara, caratterizzata da epilessia, atassia, sordità neurosensoriale e tubulopatia renale. La malattia esordisce nella prima infanzia con crisi epilettiche generalizzate, disfunzione cerebellare (andatura atassica, tremore intenzionale e disdiadococinesi), ritardo dello sviluppo di gravità variabile e sordità neurosensoriale. Gli esami di laboratorio evidenziano acidosi metabolica ipokaliemica persistente con ipomagnesemia. I pazienti possono presentare anche sintomi neurologici (velocizzazione dei riflessi tendinei profondi, clonie della caviglia, risposte plantari in estensione, nistagmo)."},"nl":{"name":"EAST-syndroom","synonyms":["Epilepsie - ataxie - sensorineuraal gehoorverlies - tubulopathie-syndroom","Epilepsie - ataxie - sensorineurale doofheid - tubulopathie-syndroom","Insulten - sensorineuraal gehoorverlies - ataxie - intellectuele achterstand - verstoorde elektrolytenbalans-syndroom","Insulten - sensorineurale doofheid - ataxie - intellectuele achterstand - verstoorde elektrolytenbalans-syndroom","SeSAME-syndroom"],"definition":"Een zeldzame, genetische aandoening, gekenmerkt door de associatie van epilepsie, ataxie, sensorineuraal gehoorverlies, en niertubulopathie. Patiënten presenteren zich in de zuigelingentijd met gegeneraliseerde insulten, cerebellaire disfunctie (met onder meer gangataxie, intentietremor, en dysdiadochokinese), variabele ontwikkelingsachterstand, en sensorineuraal gehoorverlies. Laboratoriumonderzoek toont persisterende hypokaliëmische metabole acidose met hypomagnesiëmie. Bijkomend gerapporteerde neurologische kenmerken zijn onder meer hoge diepe peesreflexen, clonus van enkel, pathologische voetzoolreflexen, en nystagmus."},"pt":{"name":"Síndrome SeSAME","definition":"A síndrome de SeSAME é caracterizada por convulsões, surdez neurossensorial, ataxia, atraso mental, e desequilíbrio electrolítico (hipocalemia, alcalose metabólica, e hipomagnesemia)."},"pl":{"name":"Zespół EAST","synonyms":["Drgawki - głuchota czuciowo-nerwowa - ataksja - niepełnosprawność intelektualna - brak równowagi elektrolitowej","Zespół SeSAME"]},"cs":{"name":"EAST syndrom","synonyms":["SeSAME syndrom","Syndrom zahrnující záchvaty, senzorineurální hluchotu, ataxii, mentální retardaci a elektrolytovou nerovnováhu"]},"uk":{"name":"Синдром EAST","synonyms":["Синдром епілепсії-атаксії-сенсоневральної глухоти-тубулопатії","Синдром епілепсії-атаксії-сенсоневральної приглухуватості-тубулопатії","Синдром судом-сенсоневральної глухоти-атаксії-інтелектуальної недостатності- електролітного дисбалансу","Синдром судом-сенсоневральної приглухуватості-атаксії-інтелектуальної недостатності- електролітного дисбалансу","Синдром SeSAME"],"definition":"A rare genetic disease characterized by the association of epilepsy, ataxia, sensorineural hearing impairment, and renal tubulopathy. Patients present in infancy with generalized seizures, cerebellar dysfunction (including gait ataxia, intention tremor, and dysdiadochokinesis), and variable developmental delay and sensorineural hearing loss. Laboratory studies show persistent hypokalemic metabolic acidosis with hypomagnesemia. Additional reported neurologic features include brisk deep tendon reflexes, ankle clonus, extensor plantar responses, or nystagmus."},"zh":{"name":"EAST综合征","synonyms":["惊厥-感音神经性听觉丧失-共济失调-智力障碍-电解质不平衡综合征"],"definition":"EAST综合征又叫SeSAME综合征，其主要临床表现为惊厥、感音神经性耳聋、共济失调、智力障碍和电解质失衡（低钾血症、代谢性碱中毒和低镁血症）。"},"tr":{"name":"EAST sendromu","synonyms":["SeSAME sendromu","Epilepsi-ataksi-sensörinöral sağırlık-tübülopati sendromu","Epilepsi-ataksi-sensörinöral işitme kaybı-tübülopati sendromu","Nöbetler-sensörinöral sağırlık-ataksi-zihinsel yetersizlik-elektrolit dengesizliği sendromu","Nöbetler-sensörinöral işitme kaybı-ataksi-zihinsel yetersizlik-elektrolit dengesizliği sendromu"]}},"xrefs":[{"source":"OMIM","code":"612780","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G40.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2H.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"781930640"},{"source":"MONDO","code":"0013005","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C557674","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2748572","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10514","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":182083,"name":"Channelopathy with epilepsy","classifications":[156,181]},{"orpha":183592,"name":"Genetic renal tubular disease","classifications":[156]},{"orpha":183518,"name":"Hereditary ataxia","classifications":[156,181]},{"orpha":98746,"name":"Neurological channelopathy of the central nervous system due to a genetic potassium channel defect","classifications":[156]},{"orpha":93603,"name":"Rare renal tubular disease","classifications":[188]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"KCNJ10","name":"potassium inwardly rectifying channel subfamily J member 10","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19289823[PMID]_20301317[PMID]","hgnc":"6256","ensembl":"ENSG00000177807","omim":"602208","loci":["1q23.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":26.0,"area":"Worldwide","status":"Validated","source":"27500072[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27500072[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-10-09","source":"19289823[PMID]_20301317[PMID]_21849804[PMID]_19420365[PMID]","terms":[{"hpo":"HP:0012591","label":"Abnormal urinary electrolyte concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002197","label":"Generalized-onset seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002900","label":"Hypokalemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002917","label":"Hypomagnesemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000859","label":"Increased circulating aldosterone concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000848","label":"Increased circulating renin level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200114","label":"Metabolic alkalosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005567","label":"Renal magnesium wasting","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000127","label":"Renal salt wasting","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012606","label":"Renal sodium wasting","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030083","label":"Salt craving","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002345","label":"Action tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000805","label":"Enuresis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001959","label":"Polydipsia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001344","label":"Absent speech","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002540","label":"Inability to walk","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007340","label":"Lower limb muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003477","label":"Peripheral axonal neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007182","label":"Peripheral hypomyelination","frequency":"Occasional (29-5%)","criteria":null}]}}