EAST syndrome
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
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | EAST syndrome | 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 |
| fr | Syndrome EAST | Syndrome SeSAME · Syndrome d'epilepsie-ataxie-surdité neurosensorielle-tubulopathie · Syndrome d'épilepsie-surdité neurosensorielle-ataxie-déficience intellectuelle-déséquilibre électrolytique |
| de | EAST-Syndrom | Epilepsie-Ataxie-sensorineurale Schwerhörigkeit-Tubulopathie-Syndrom · Krämpfe - sensorineurale Schwerhörigkeit - Ataxie - intelligenzminderung - Elektrolytimbalance · SeSAME-Syndrom |
| es | Síndrome EAST | 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 |
| it | Sindrome EAST | Convulsioni - sordità neurosensoriale - atassia - deficit cognitivo - squilibrio elettrolitico · Sindrome SeSAME |
| nl | EAST-syndroom | 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 |
| pt | Síndrome SeSAME | |
| pl | Zespół EAST | Drgawki - głuchota czuciowo-nerwowa - ataksja - niepełnosprawność intelektualna - brak równowagi elektrolitowej · Zespół SeSAME |
| cs | EAST syndrom | SeSAME syndrom · Syndrom zahrnující záchvaty, senzorineurální hluchotu, ataxii, mentální retardaci a elektrolytovou nerovnováhu |
| uk | Синдром EAST | 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 |
| zh | EAST综合征 | 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 |
| tr | EAST sendromu | 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 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612780 | E | validated | |
| ICD-10 | G40.4 | NTBT | attributed | validated |
| ICD-11 | LD2H.Y | NTBT | index | validated |
| MONDO | 0013005 | E | validated | |
| MeSH | C557674 | E | validated | |
| UMLS | C2748572 | E | validated | |
| GARD | 10514 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (7):
- ORPHA:182083Channelopathy with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:183592Genetic renal tubular disease
rare genetic diseases - ORPHA:183518Hereditary ataxia
rare genetic diseases; rare neurological diseases - ORPHA:98746Neurological channelopathy of the central nervous system due to a genetic potassium channel defect
rare genetic diseases - ORPHA:93603Rare renal tubular disease
rare renal diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KCNJ10 | Disease-causing germline mutation(s) in | Assessed | HGNC:6256 | ENSG00000177807 | 602208 | 1q23.2 | potassium inwardly rectifying channel subfamily J member 10 | 19289823[PMID]_20301317[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 26 cases | Worldwide | Case(s) | Validated | 27500072[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27500072[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
26 annotations · validated 2020-10-09| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012591 | Abnormal urinary electrolyte concentration | |
| HP:0001251 | Ataxia | |
| HP:0002197 | Generalized-onset seizure | |
| HP:0001263 | Global developmental delay | |
| HP:0002900 | Hypokalemia | |
| HP:0002917 | Hypomagnesemia | |
| HP:0000859 | Increased circulating aldosterone concentration | |
| HP:0000848 | Increased circulating renin level | |
| HP:0001249 | Intellectual disability | |
| HP:0200114 | Metabolic alkalosis | |
| HP:0005567 | Renal magnesium wasting | |
| HP:0000127 | Renal salt wasting | |
| HP:0012606 | Renal sodium wasting | |
| HP:0030083 | Salt craving | |
| HP:0001250 | Seizure | |
| HP:0000407 | Sensorineural hearing impairment | |
| Frequent (79-30%) | ||
| HP:0002345 | Action tremor | |
| HP:0000805 | Enuresis | |
| HP:0001959 | Polydipsia | |
| Occasional (29-5%) | ||
| HP:0001344 | Absent speech | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0001288 | Gait disturbance | |
| HP:0002540 | Inability to walk | |
| HP:0007340 | Lower limb muscle weakness | |
| HP:0003477 | Peripheral axonal neuropathy | |
| HP:0007182 | Peripheral hypomyelination | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 19289823[PMID]_20301317[PMID]_21849804[PMID]_19420365[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/199343
- This record as JSON: /data/d/199343.json