SESAMES
MCID: SZR026
MIFTS: 51

Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance (SESAMES)

Categories: Ear diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and...

MalaCards integrated aliases for Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance:

Name: Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance 57 75
Sesame Syndrome 57 12 53 59 75 29 13 6 44 40 73
East Syndrome 57 12 53 59 75 15
Seizures-Sensorineural Deafness-Ataxia-Intellectual Disability-Electrolyte Imbalance Syndrome 53 59
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation and Electrolyte Imbalance 12 53
Epilepsy, Ataxia, Sensorineural Deafness and Tubulopathy 12 53
Sesames 57 75
Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, and Electrolyte Imbalance Syndrome 6
Seizures - Sensorineural Deafness - Ataxia - Intellectual Disability - Electrolyte Imbalance 53
Seizures-Sensorineural Deafness-Ataxia-Mental Retardation-Electrolyte Imbalance 37
Epilepsy, Ataxia, Sensorineural Deafness, and Tubulopathy 57
Epilepsy Ataxia Sensorineural Deafness and Tubulopathy 75

Characteristics:

Orphanet epidemiological data:

59
east syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset of seizures in first months of life


HPO:

32
seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and...

NIH Rare Diseases : 53 SeSAME syndrome is characterized by  Seizures, Sensorineural deafness, Ataxia (lack of muscle coordination), intellectual (Mental) disability, and Electrolyte imbalance (low levels of potassium and magnesium in the blood, hypokalemia and hypomagnesemia, and metabolic alkalosis). It may also be known as EAST syndrome (Epilepsy, Ataxia, Sensorineural deafness, and Tubulopathy (kidney problems in the structures known as tubules)).Seizures tend to start in early childhood. The seizures are typically of the generalized tonic-clonic seizure type (also known as grand mal seizures), but they usually respond well to medication. Non-progressive, cerebellar ataxia and hearing loss start later. The ataxia seems to be the most debilitating feature of the syndrome. It is caused by mutations in the KCNJ10 gene, and inherited in an autosomal recessive pattern. Treatment includes antiepileptic medication, physical, educational and speech therapy, hearing aid and management of the kidney and electrolytes problems.

MalaCards based summary : Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance, also known as sesame syndrome, is related to primary hypomagnesemia and hypokalemia, and has symptoms including seizures, ataxia and polydipsia. An important gene associated with Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance is KCNJ10 (Potassium Voltage-Gated Channel Subfamily J Member 10), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Transmission across Chemical Synapses. Affiliated tissues include kidney, liver and pancreas, and related phenotypes are seizures and ataxia

Disease Ontology : 12 A syndrome characterize by seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance. It has material basis in homozygous or compound heterozygous mutation in the KCNJ10 gene on chromosome 1q23.

UniProtKB/Swiss-Prot : 75 Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance: A complex disorder characterized by generalized seizures with onset in infancy, delayed psychomotor development, ataxia, sensorineural hearing loss, hypokalemia, metabolic alkalosis, and hypomagnesemia.

Wikipedia : 76 EAST syndrome is a syndrome consisting of epilepsy, ataxia (a movement disorder), sensorineural deafness... more...

Description from OMIM: 612780

Related Diseases for Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and...

Diseases related to Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 54)
# Related Disease Score Top Affiliating Genes
1 primary hypomagnesemia 31.4 FXYD2 KCNA1 MGAM TRPM6
2 hypokalemia 29.8 AQP2 KCNJ1 SLC12A3
3 hypomagnesemia 2, renal 11.0
4 epilepsy 10.5
5 frasier syndrome 10.1
6 nut allergy 10.1
7 hypomagnesemia 1, intestinal 10.1 MGAM TRPM6
8 food allergy 10.1
9 munchausen by proxy 10.1 ABCC8 KCNJ11
10 cardiomyopathy, dilated, 1o 10.1 ABCC8 KCNJ11
11 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 10.0 ABCC8 KCNJ11
12 mineral metabolism disease 10.0 KCNJ1 MGAM SLC12A3
13 inappropriate adh syndrome 10.0 AQP2 AVP
14 myocardial infarction 10.0
15 lymphoid leukemia 10.0
16 hepatic veno-occlusive disease 10.0
17 asphyxia neonatorum 10.0 ABCC8 MGAM
18 vestibular disease 10.0 AQP2 AVP KCNJ10
19 benign essential hypertension 10.0 AVP MGAM
20 acute insulin response 9.9 ABCC8 KCNJ11
21 impaired renal function disease 9.9 AQP2 AQP3 AVP
22 secondary hypertrophic osteoarthropathy 9.9 AVP KCNJ11
23 diabetes insipidus, nephrogenic, autosomal 9.9 AQP2 AQP3 AVP
24 cantu syndrome 9.9 ABCC8 KCNJ11 MGAM
25 leber congenital amaurosis 16 9.9 KCNJ1 KCNJ12 KCNJ13 KCNJ15 KCNJ3
26 pancreas disease 9.8 ABCC8 AVP KCNJ11
27 atherosclerosis susceptibility 9.8
28 diabetes mellitus, noninsulin-dependent 9.8
29 enterocolitis 9.8
30 horns in sheep 9.8
31 polyarteritis nodosa, childhood-onset 9.8
32 autoinflammation with infantile enterocolitis 9.8
33 acute myocardial infarction 9.8
34 diabetes mellitus 9.8
35 hereditary hemorrhagic telangiectasia 9.8
36 leukemia 9.8
37 liver disease 9.8
38 osteoarthritis 9.8
39 nonalcoholic fatty liver disease 9.8
40 endocarditis 9.8
41 amnestic disorder 9.8
42 pulmonary edema 9.8
43 kwashiorkor 9.8
44 lipid pneumonia 9.8
45 subacute bacterial endocarditis 9.8
46 pneumonia 9.8
47 fatty liver disease 9.8
48 carcinoma showing thymus-like differentiation 9.8
49 heparin-induced thrombocytopenia 9.8
50 polymyositis 9.8

Graphical network of the top 20 diseases related to Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance:



Diseases related to Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance

Symptoms & Phenotypes for Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and...

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
ataxia
intention tremor
dysdiadochokinesis
cerebellar atrophy
more
Laboratory Abnormalities:
hypokalemia
hypocalciuria
hypomagnesemia
increased plasma renin
increased plasma aldosterone

Metabolic Features:
metabolic alkalosis

Growth Height:
short stature (in some patients)

Cardiovascular Vascular:
no hypertension

Abdomen Gastrointestinal:
polydipsia
salt craving

Genitourinary Bladder:
enuresis
polyuria

Head And Neck Ears:
hearing loss, sensorineural

Genitourinary Kidneys:
renal potassium wasting
renal sodium wasting

Neurologic Peripheral Nervous System:
axonal neuropathy (rare)
hypomyelination of sural nerve (rare)


Clinical features from OMIM:

612780

Human phenotypes related to Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance:

59 32 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0001250
2 ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001251
3 failure to thrive 59 32 hallmark (90%) Very frequent (99-80%) HP:0001508
4 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
5 sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000407
6 abnormality of the renal tubule 59 32 hallmark (90%) Very frequent (99-80%) HP:0000091
7 intellectual disability, moderate 59 32 hallmark (90%) Very frequent (99-80%) HP:0002342
8 abnormality of the mitochondrion 59 32 frequent (33%) Frequent (79-30%) HP:0012103
9 intellectual disability 32 HP:0001249
10 muscular hypotonia 32 HP:0001252
11 delayed speech and language development 32 HP:0000750
12 short stature 32 occasional (7.5%) HP:0004322
13 polydipsia 32 HP:0001959
14 hypokalemia 32 HP:0002900
15 intention tremor 32 HP:0002080
16 hyperaldosteronism 32 HP:0000859
17 dysdiadochokinesis 32 HP:0002075
18 cerebellar atrophy 32 HP:0001272
19 generalized hypotonia 32 HP:0001290
20 renal salt wasting 32 HP:0000127
21 increased circulating renin level 32 HP:0000848
22 enuresis 32 HP:0000805
23 hypocalciuria 32 HP:0003127
24 hypomagnesemia 32 HP:0002917
25 chronic axonal neuropathy 32 occasional (7.5%) HP:0007267
26 hypokalemic metabolic alkalosis 32 HP:0001960
27 salt craving 32 HP:0030083
28 polyuria 32 HP:0000103
29 renal potassium wasting 32 HP:0000128
30 renal sodium wasting 32 HP:0012606
31 peripheral hypomyelination 32 occasional (7.5%) HP:0007182

UMLS symptoms related to Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance:


seizures, ataxia, polydipsia, dysdiadochokinesis, action tremor, salt craving, polyuria

GenomeRNAi Phenotypes related to Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 10.05 TRPM6
2 Decreased viability GR00221-A-2 10.05 TRPM6
3 Decreased viability GR00221-A-4 10.05 TRPM6
4 Decreased viability GR00381-A-1 10.05 CDH16 KCNJ3
5 Decreased viability GR00402-S-2 10.05 ABCC8 AQP2 AQP3 AVP CDH16 FXYD2
6 no effect GR00402-S-1 9.62 ABCC8 AQP2 AQP3 AVP CDH16 FXYD2

MGI Mouse Phenotypes related to Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.7 AQP2 AQP3 AVP KCNA1 KCNJ1 KCNJ10
2 homeostasis/metabolism MP:0005376 9.44 ABCC8 AQP2 AQP3 AVP KCNA1 KCNJ1

Drugs & Therapeutics for Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and...

Search Clinical Trials , NIH Clinical Center for Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance

Cochrane evidence based reviews: sesame syndrome

Genetic Tests for Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and...

Genetic tests related to Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance:

# Genetic test Affiliating Genes
1 Sesame Syndrome 29 KCNJ10

Anatomical Context for Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and...

MalaCards organs/tissues related to Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance:

41
Kidney, Liver, Pancreas

Publications for Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and...

Articles related to Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance:

# Title Authors Year
1
EAST/SeSAME syndrome: Review of the literature and introduction of four new Latvian patients. ( 29722015 )
2018
2
Vasopressin-induced stimulation of the Na(+)-activated K(+) channels is responsible for maintaining the basolateral K(+) conductance of the thick ascending limb (TAL) in EAST/SeSAME syndrome. ( 26319417 )
2015
3
Mislocalization of K+ channels causes the renal salt wasting in EAST/SeSAME syndrome. ( 24561201 )
2014
4
Variable loss of Kir4.1 channel function in SeSAME syndrome mutations. ( 20678478 )
2010
5
Molecular mechanisms of EAST/SeSAME syndrome mutations in Kir4.1 (KCNJ10). ( 20807765 )
2010
6
Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10. ( 19289823 )
2009

Variations for Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and...

UniProtKB/Swiss-Prot genetic disease variations for Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance:

75
# Symbol AA change Variation ID SNP ID
1 KCNJ10 p.Arg65Pro VAR_063059 rs137853066
2 KCNJ10 p.Gly77Arg VAR_063060 rs137853072
3 KCNJ10 p.Cys140Arg VAR_063061 rs137853068
4 KCNJ10 p.Thr164Ile VAR_063062 rs137853069
5 KCNJ10 p.Ala167Val VAR_063063 rs137853070
6 KCNJ10 p.Arg297Cys VAR_063064 rs137853071
7 KCNJ10 p.Leu68Pro VAR_072746
8 KCNJ10 p.Ile129Val VAR_072747

ClinVar genetic disease variations for Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance:

6 (show top 50) (show all 211)
# Gene Variation Type Significance SNP ID Assembly Location
1 KCNJ10 NM_002241.4(KCNJ10): c.194G> C (p.Arg65Pro) single nucleotide variant Pathogenic rs137853066 GRCh37 Chromosome 1, 160012129: 160012129
2 KCNJ10 NM_002241.4(KCNJ10): c.194G> C (p.Arg65Pro) single nucleotide variant Pathogenic rs137853066 GRCh38 Chromosome 1, 160042339: 160042339
3 KCNJ10 NM_002241.4(KCNJ10): c.595C> T (p.Arg199Ter) single nucleotide variant Pathogenic rs137853067 GRCh37 Chromosome 1, 160011728: 160011728
4 KCNJ10 NM_002241.4(KCNJ10): c.595C> T (p.Arg199Ter) single nucleotide variant Pathogenic rs137853067 GRCh38 Chromosome 1, 160041938: 160041938
5 KCNJ10 NM_002241.4(KCNJ10): c.418T> C (p.Cys140Arg) single nucleotide variant Pathogenic rs137853068 GRCh37 Chromosome 1, 160011905: 160011905
6 KCNJ10 NM_002241.4(KCNJ10): c.418T> C (p.Cys140Arg) single nucleotide variant Pathogenic rs137853068 GRCh38 Chromosome 1, 160042115: 160042115
7 KCNJ10 NM_002241.4(KCNJ10): c.491C> T (p.Thr164Ile) single nucleotide variant Pathogenic rs137853069 GRCh37 Chromosome 1, 160011832: 160011832
8 KCNJ10 NM_002241.4(KCNJ10): c.491C> T (p.Thr164Ile) single nucleotide variant Pathogenic rs137853069 GRCh38 Chromosome 1, 160042042: 160042042
9 KCNJ10 NM_002241.4(KCNJ10): c.500C> T (p.Ala167Val) single nucleotide variant Pathogenic rs137853070 GRCh37 Chromosome 1, 160011823: 160011823
10 KCNJ10 NM_002241.4(KCNJ10): c.500C> T (p.Ala167Val) single nucleotide variant Pathogenic rs137853070 GRCh38 Chromosome 1, 160042033: 160042033
11 KCNJ10 NM_002241.4(KCNJ10): c.889C> T (p.Arg297Cys) single nucleotide variant Likely pathogenic rs137853071 GRCh37 Chromosome 1, 160011434: 160011434
12 KCNJ10 NM_002241.4(KCNJ10): c.889C> T (p.Arg297Cys) single nucleotide variant Likely pathogenic rs137853071 GRCh38 Chromosome 1, 160041644: 160041644
13 KCNJ10 NM_002241.4(KCNJ10): c.229G> C (p.Gly77Arg) single nucleotide variant Pathogenic rs137853072 GRCh37 Chromosome 1, 160012094: 160012094
14 KCNJ10 NM_002241.4(KCNJ10): c.229G> C (p.Gly77Arg) single nucleotide variant Pathogenic rs137853072 GRCh38 Chromosome 1, 160042304: 160042304
15 KCNJ10 NM_002241.4(KCNJ10): c.1042C> T (p.Arg348Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs137853074 GRCh37 Chromosome 1, 160011281: 160011281
16 KCNJ10 NM_002241.4(KCNJ10): c.1042C> T (p.Arg348Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs137853074 GRCh38 Chromosome 1, 160041491: 160041491
17 KCNJ10 NM_002241.4(KCNJ10): c.193C> T (p.Arg65Cys) single nucleotide variant Pathogenic rs387906834 GRCh37 Chromosome 1, 160012130: 160012130
18 KCNJ10 NM_002241.4(KCNJ10): c.193C> T (p.Arg65Cys) single nucleotide variant Pathogenic rs387906834 GRCh38 Chromosome 1, 160042340: 160042340
19 KCNJ10 KCNJ10, PHE75LEU single nucleotide variant Pathogenic
20 KCNJ10 KCNJ10, 1-BP DEL, 775G deletion Pathogenic
21 KCNJ10 NM_002241.4(KCNJ10): c.524G> A (p.Arg175Gln) single nucleotide variant Pathogenic rs397514673 GRCh37 Chromosome 1, 160011799: 160011799
22 KCNJ10 NM_002241.4(KCNJ10): c.524G> A (p.Arg175Gln) single nucleotide variant Pathogenic rs397514673 GRCh38 Chromosome 1, 160042009: 160042009
23 KCNJ10 NM_002241.4(KCNJ10): c.53G> A (p.Arg18Gln) single nucleotide variant Benign/Likely benign rs115466046 GRCh37 Chromosome 1, 160012270: 160012270
24 KCNJ10 NM_002241.4(KCNJ10): c.53G> A (p.Arg18Gln) single nucleotide variant Benign/Likely benign rs115466046 GRCh38 Chromosome 1, 160042480: 160042480
25 KCNJ10 NM_002241.4(KCNJ10): c.811C> T (p.Arg271Cys) single nucleotide variant Benign rs1130183 GRCh37 Chromosome 1, 160011512: 160011512
26 KCNJ10 NM_002241.4(KCNJ10): c.811C> T (p.Arg271Cys) single nucleotide variant Benign rs1130183 GRCh38 Chromosome 1, 160041722: 160041722
27 KCNJ10 NM_002241.4(KCNJ10): c.812G> A (p.Arg271His) single nucleotide variant Benign/Likely benign rs3795339 GRCh37 Chromosome 1, 160011511: 160011511
28 KCNJ10 NM_002241.4(KCNJ10): c.812G> A (p.Arg271His) single nucleotide variant Benign/Likely benign rs3795339 GRCh38 Chromosome 1, 160041721: 160041721
29 KCNJ10 NM_002241.4(KCNJ10): c.1092A> G (p.Gln364=) single nucleotide variant Benign rs145588542 GRCh37 Chromosome 1, 160011231: 160011231
30 KCNJ10 NM_002241.4(KCNJ10): c.1092A> G (p.Gln364=) single nucleotide variant Benign rs145588542 GRCh38 Chromosome 1, 160041441: 160041441
31 KCNJ10 NM_002241.4(KCNJ10): c.-43G> A single nucleotide variant Conflicting interpretations of pathogenicity rs372841245 GRCh37 Chromosome 1, 160039854: 160039854
32 KCNJ10 NM_002241.4(KCNJ10): c.-43G> A single nucleotide variant Conflicting interpretations of pathogenicity rs372841245 GRCh38 Chromosome 1, 160070064: 160070064
33 KCNJ10 NM_002241.4(KCNJ10): c.530A> G (p.Glu177Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs145947380 GRCh37 Chromosome 1, 160011793: 160011793
34 KCNJ10 NM_002241.4(KCNJ10): c.530A> G (p.Glu177Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs145947380 GRCh38 Chromosome 1, 160042003: 160042003
35 KCNJ10 NM_002241.4(KCNJ10): c.1061A> G (p.Lys354Arg) single nucleotide variant Uncertain significance rs142596580 GRCh37 Chromosome 1, 160011262: 160011262
36 KCNJ10 NM_002241.4(KCNJ10): c.1061A> G (p.Lys354Arg) single nucleotide variant Uncertain significance rs142596580 GRCh38 Chromosome 1, 160041472: 160041472
37 KCNJ10 NM_002241.4(KCNJ10): c.1043G> A (p.Arg348His) single nucleotide variant Uncertain significance rs146396982 GRCh37 Chromosome 1, 160011280: 160011280
38 KCNJ10 NM_002241.4(KCNJ10): c.1043G> A (p.Arg348His) single nucleotide variant Uncertain significance rs146396982 GRCh38 Chromosome 1, 160041490: 160041490
39 KCNJ10 NM_002241.4(KCNJ10): c.735C> G (p.Asp245Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs146426296 GRCh37 Chromosome 1, 160011588: 160011588
40 KCNJ10 NM_002241.4(KCNJ10): c.735C> G (p.Asp245Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs146426296 GRCh38 Chromosome 1, 160041798: 160041798
41 KCNJ10 NM_002241.4(KCNJ10): c.688C> T (p.Arg230Trp) single nucleotide variant Uncertain significance rs149615470 GRCh37 Chromosome 1, 160011635: 160011635
42 KCNJ10 NM_002241.4(KCNJ10): c.688C> T (p.Arg230Trp) single nucleotide variant Uncertain significance rs149615470 GRCh38 Chromosome 1, 160041845: 160041845
43 KCNJ10 NM_002241.4(KCNJ10): c.301C> A (p.Pro101Thr) single nucleotide variant Uncertain significance rs375361490 GRCh37 Chromosome 1, 160012022: 160012022
44 KCNJ10 NM_002241.4(KCNJ10): c.301C> A (p.Pro101Thr) single nucleotide variant Uncertain significance rs375361490 GRCh38 Chromosome 1, 160042232: 160042232
45 KCNJ10 NM_002241.4(KCNJ10): c.221C> T (p.Thr74Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs796052604 GRCh37 Chromosome 1, 160012102: 160012102
46 KCNJ10 NM_002241.4(KCNJ10): c.221C> T (p.Thr74Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs796052604 GRCh38 Chromosome 1, 160042312: 160042312
47 KCNJ10 NM_002241.4(KCNJ10): c.179T> C (p.Ile60Thr) single nucleotide variant Uncertain significance rs759993423 GRCh37 Chromosome 1, 160012144: 160012144
48 KCNJ10 NM_002241.4(KCNJ10): c.179T> C (p.Ile60Thr) single nucleotide variant Uncertain significance rs759993423 GRCh38 Chromosome 1, 160042354: 160042354
49 KCNJ10 NM_002241.4(KCNJ10): c.52C> T (p.Arg18Trp) single nucleotide variant Uncertain significance rs138457635 GRCh37 Chromosome 1, 160012271: 160012271
50 KCNJ10 NM_002241.4(KCNJ10): c.52C> T (p.Arg18Trp) single nucleotide variant Uncertain significance rs138457635 GRCh38 Chromosome 1, 160042481: 160042481

Expression for Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and...

Search GEO for disease gene expression data for Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance.

Pathways for Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and...

Pathways related to Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.19 ABCC8 AQP2 AQP3 AVP FXYD2 KCNJ11
2
Show member pathways
12.81 ABCC8 KCNA1 KCNJ1 KCNJ10 KCNJ11 KCNJ12
3 12.21 KCNA1 KCNJ1 KCNJ10 KCNJ11 KCNJ12 KCNJ13
4
Show member pathways
12.02 FXYD2 KCNJ1 KCNJ10 KCNJ15 KCNJ16
5
Show member pathways
11.93 KCNJ10 KCNJ12 KCNJ15 KCNJ16 KCNJ3 KCNJ4
6
Show member pathways
11.67 ABCC8 KCNJ1 KCNJ10 KCNJ11 KCNJ12 KCNJ15
7
Show member pathways
11.49 ABCC8 KCNA1 KCNJ1 KCNJ10 KCNJ11 KCNJ12
8 11.42 ABCC8 KCNJ11 KCNJ3 KCNJ4
9 11.3 AQP2 AQP3 AVP
10 11.07 FXYD2 KCNJ1 SLC12A3

GO Terms for Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and...

Cellular components related to Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.89 ABCC8 AQP2 AQP3 CDH16 FXYD2 KCNA1
2 apical plasma membrane GO:0016324 9.77 AQP2 KCNA1 MGAM SLC12A3 TRPM6
3 voltage-gated potassium channel complex GO:0008076 9.65 KCNA1 KCNJ1 KCNJ16 KCNJ3 KCNJ4
4 basolateral plasma membrane GO:0016323 9.63 AQP2 AQP3 CDH16 KCNJ10 KCNJ16 KCNJ4
5 integral component of membrane GO:0016021 9.58 ABCC8 AQP2 AQP3 CDH16 FXYD2 KCNA1
6 inward rectifying potassium channel GO:0008282 9.4 ABCC8 KCNJ11
7 membrane GO:0016020 10.28 ABCC8 AQP2 AQP3 CDH16 FXYD2 KCNA1

Biological processes related to Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.97 ABCC8 AQP2 AQP3 KCNA1 SLC12A3 TRPM6
2 potassium ion import across plasma membrane GO:1990573 9.9 FXYD2 KCNJ1 KCNJ10 KCNJ11 KCNJ12 KCNJ13
3 regulation of membrane potential GO:0042391 9.73 KCNA1 KCNJ10 KCNJ11
4 excretion GO:0007588 9.65 AQP2 AQP3 KCNJ1
5 potassium ion import GO:0010107 9.65 KCNJ1 KCNJ10 KCNJ11 KCNJ12 KCNJ13 KCNJ15
6 renal water homeostasis GO:0003091 9.63 AQP2 AQP3 AVP
7 water transport GO:0006833 9.61 AQP2 AQP3 AVP
8 neuromuscular process GO:0050905 9.57 KCNA1 MECP2
9 startle response GO:0001964 9.55 KCNA1 MECP2
10 potassium ion homeostasis GO:0055075 9.54 KCNJ10 SLC12A3
11 positive regulation of voltage-gated potassium channel activity GO:1903818 9.52 ABCC8 KCNA1
12 glycerol transport GO:0015793 9.51 AQP2 AQP3
13 regulation of ion transmembrane transport GO:0034765 9.32 KCNA1 KCNJ1 KCNJ10 KCNJ11 KCNJ12 KCNJ13
14 ion transport GO:0006811 10.13 FXYD2 KCNA1 KCNJ1 KCNJ10 KCNJ11 KCNJ12
15 potassium ion transport GO:0006813 10.03 ABCC8 FXYD2 KCNA1 KCNJ1 KCNJ10 KCNJ11
16 potassium ion transmembrane transport GO:0071805 10.02 ABCC8 KCNA1 KCNJ1 KCNJ10 KCNJ11 KCNJ13
17 ion transmembrane transport GO:0034220 10.01 KCNJ1 KCNJ10 KCNJ11 KCNJ13 KCNJ15 KCNJ16

Molecular functions related to Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 voltage-gated ion channel activity GO:0005244 9.65 KCNA1 KCNJ1 KCNJ10 KCNJ11 KCNJ12 KCNJ13
2 G-protein activated inward rectifier potassium channel activity GO:0015467 9.63 KCNJ10 KCNJ12 KCNJ15 KCNJ16 KCNJ3 KCNJ4
3 ion channel activity GO:0005216 9.61 FXYD2 KCNA1 TRPM6
4 ATP-activated inward rectifier potassium channel activity GO:0015272 9.56 ABCC8 KCNJ1 KCNJ10 KCNJ11
5 transporter activity GO:0005215 9.54 AQP3 FXYD2 SLC12A3
6 potassium channel activity GO:0005267 9.5 ABCC8 KCNA1 KCNJ10
7 water channel activity GO:0015250 9.4 AQP2 AQP3
8 inward rectifier potassium channel activity GO:0005242 9.28 KCNJ1 KCNJ10 KCNJ11 KCNJ12 KCNJ13 KCNJ15

Sources for Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
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62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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