EAST syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: EAST SYNDROME
SESAMES
EPILEPSY, ATAXIA, SENSORINEURAL DEAFNESS, AND TUBULOPATHY
Seizures - sensorineural deafness - ataxia - intellectual deficit - electrolyte imbalance
sesame syndrome
Number of Symptoms 37
OrphanetNr: 199343
OMIM Id: 612780
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Channelopathy with epilepsy
 -Rare genetic disease
 -Rare neurologic disease
Genetic renal tubular disease
 -Rare genetic disease
Rare hereditary ataxia
 -Rare genetic disease
 -Rare neurologic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease
Rare renal tubular disease
 -Rare renal disease
Syndromic genetic deafness
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare otorhinolaryngologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000805) Enuresis 11 / 7739
2
 (HPO:0003127) Hypocalciuria 7 / 7739
3
 (HPO:0000127) Renal salt wasting 21 / 7739
4
 (HPO:0000128) Renal potassium wasting 6 / 7739
5
 (HPO:0000103) Polyuria 60 / 7739
6
 (HPO:0012606) Renal sodium wasting 1 / 7739
7
 (HPO:0000407) Sensorineural hearing impairment 524 / 7739
8
 (HPO:0003477) Peripheral axonal neuropathy 62 / 7739
9
 (HPO:0002080) Intention tremor 44 / 7739
10
 (HPO:0000750) Delayed speech and language development 197 / 7739
11
 (HPO:0001251) Ataxia 413 / 7739
12
 (HPO:0001959) Polydipsia 43 / 7739
13
 (HPO:0001263) Global developmental delay 853 / 7739
14
 (HPO:0007182) Peripheral hypomyelination Rare [HPO:probinson] 7 / 7739
15
 (HPO:0007267) Chronic axonal neuropathy Rare [HPO:probinson] 5 / 7739
16
 (HPO:0002075) Dysdiadochokinesis 40 / 7739
17
 (HPO:0001250) Seizures 1245 / 7739
18
 (HPO:0001249) Intellectual disability 1089 / 7739
19
 (HPO:0000848) Increased circulating renin level 14 / 7739
20
 (HPO:0000859) Hyperaldosteronism 17 / 7739
21
 (HPO:0004322) Short stature Occasional [HPO:probinson] 1232 / 7739
22
 (HPO:0000822) Hypertension 224 / 7739
23
 (HPO:0001960) Hypokalemic metabolic alkalosis 5 / 7739
24
 (HPO:0002917) Hypomagnesemia 19 / 7739
25
 (HPO:0002900) Hypokalemia 45 / 7739
26
 (HPO:0200114) Metabolic alkalosis 6 / 7739
27
 (HPO:0001252) Muscular hypotonia 990 / 7739
28
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
29
 (HPO:0001324) Muscle weakness 859 / 7739
30
 (HPO:0010547) Muscle flaccidity 466 / 7739
31
 (OMIM) Hypomyelination of sural nerve (rare) 1 / 7739
32
 (HPO:0001272) Cerebellar atrophy 197 / 7739
33
 (HPO:0003593) Infantile onset 249 / 7739
34
 (OMIM) Increased plasma aldosterone 3 / 7739
35
 (HPO:0030083) Salt craving 2 / 7739
36
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
37
 (OMIM) Some patients do not achieve ability to walk 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Scholl et al. (2009) reported 5 patients from 4 families with a complex disorder characterized by onset of generalized seizures in infancy, delayed psychomotor development, ataxia, and sensorineural hearing loss. One patient was reported in detail. She developed ...
Molecular genetics OMIM In 5 patients from 4 families with a complex syndrome comprising seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance, Scholl et al. (2009) identified 6 different homozygous or compound heterozygous mutations in the KCNJ10 gene (602208.0001-602208.0006). ...