MCID: SZR026
MIFTS: 55

Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Nephrological diseases, Ear diseases, Fetal diseases, Mental 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 ataxia, polyuria and seizures. 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 Dopamine-DARPP32 Feedback onto cAMP Pathway. The drugs Methyltestosterone and Testosterone have been mentioned in the context of this disorder. Affiliated tissues include kidney, skin and testes, and related phenotypes are abnormality of the mitochondrion and abnormality of the renal tubule

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...

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
hypomagnesemia
hypocalciuria
increased plasma renin
increased plasma aldosterone

Genitourinary Bladder:
enuresis
polyuria

Growth Height:
short stature (in some patients)

Cardiovascular Vascular:
no hypertension

Abdomen Gastrointestinal:
polydipsia
salt craving

Metabolic Features:
metabolic alkalosis

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

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


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

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.23 MECP2 MGAM SLC12A3 TRPM6 AQP2 AVP

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

Drugs for Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 135)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methyltestosterone Approved Phase 4,Phase 3,Phase 1,Phase 2 58-18-4 6010
2
Testosterone Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 58-22-0 6013
3
Testosterone enanthate Approved Phase 4,Phase 3,Phase 1,Phase 2 315-37-7 9416
4
Testosterone undecanoate Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 5949-44-0
5
Ethanol Approved Phase 4,Phase 3,Phase 2 64-17-5 702
6
Progesterone Approved, Vet_approved Phase 4 57-83-0 5994
7 Anabolic Agents Phase 4,Phase 3,Phase 1,Phase 2
8 Androgens Phase 4,Phase 3,Phase 1,Phase 2
9 Antineoplastic Agents, Hormonal Phase 4,Phase 3,Phase 1,Phase 2
10 Hormone Antagonists Phase 4,Phase 3,Phase 1,Phase 2
11 Hormones Phase 4,Phase 3,Phase 1,Phase 2
12 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 1,Phase 2
13 Testosterone 17 beta-cypionate Phase 4,Phase 3,Phase 1,Phase 2
14 Anti-Infective Agents, Local Phase 4
15 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2,Phase 1
16 Progestins Phase 4
17 Aloe Nutraceutical Phase 4
18
Cisplatin Approved Phase 2, Phase 3 15663-27-1 84093 441203 2767
19
Etoposide Approved Phase 2, Phase 3 33419-42-0 36462
20 Strawberry Approved, Nutraceutical Phase 3,Phase 2
21
Ergocalciferol Approved, Nutraceutical Phase 3,Not Applicable 50-14-6 5280793
22
Vitamin D Approved, Nutraceutical, Vet_approved Phase 3,Not Applicable 1406-16-2
23
Vitamin D3 Approved, Nutraceutical Phase 3,Not Applicable 67-97-0 6221 5280795
24 Antineoplastic Agents, Phytogenic Phase 2, Phase 3
25 Etoposide phosphate Phase 2, Phase 3
26 Topoisomerase Inhibitors Phase 2, Phase 3
27 Anticonvulsants Phase 3,Phase 2
28 Bone Density Conservation Agents Phase 3,Not Applicable
29 Ergocalciferols Phase 3,Not Applicable
30 Micronutrients Phase 3,Phase 2,Not Applicable
31 Trace Elements Phase 3,Phase 2,Not Applicable
32 Vitamins Phase 3,Phase 2,Not Applicable
33 Calendula Nutraceutical Phase 3
34 Calciferol Nutraceutical Phase 3,Not Applicable
35 Vitamin D2 Nutraceutical Phase 3,Not Applicable
36
Dutasteride Approved, Investigational Phase 1, Phase 2 164656-23-9 152945 6918296
37
Hydroxocobalamin Approved Phase 2 13422-51-0 11953898 44475014
38
Clobazam Approved, Illicit Phase 2 22316-47-8 2789
39
Omalizumab Approved, Investigational Phase 2 242138-07-4
40
Stiripentol Approved Phase 2 49763-96-4
41
Valproic Acid Approved, Investigational Phase 2 99-66-1 3121
42
Iron Approved Phase 2 7439-89-6 23925
43
Sorbitol Approved Phase 2 50-70-4 5780
44 Titanium dioxide Approved Phase 2 13463-67-7
45
Benzyl alcohol Approved Phase 2 100-51-6 244
46
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
47
Fluphenazine Approved Phase 2 69-23-8 3372
48
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
49
Cyanocobalamin Approved, Nutraceutical Phase 2 68-19-9 44176380
50
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037

Interventional clinical trials:

(show top 50) (show all 59)
# Name Status NCT ID Phase Drugs
1 Physiological and Psychological Effects of Testosterone During Severe Energy Deficit and Recovery Completed NCT02734238 Phase 4 Sesame Oil;testosterone enanthate
2 PRO With Luxerm® in the Field Treatment of Thin and Non-hyperkeratotic Non-pigmented AK Completed NCT03511326 Phase 4 Methyl Aminolaevulinate 16% Cream
3 A Study to Evaluate the Efficacy of the Nasal Antiseptic, PrevinC, When Administered for the RiskReduction of Rhinitis in Subjects Who Work for Child Day Care Centers Completed NCT02225912 Phase 4
4 Vaginal Compared to Intramuscular Progesterone for Frozen Embryo Transfer Active, not recruiting NCT02254577 Phase 4 Endometrin® plus Progesterone in Oil (PIO);Progesterone in Oil (PIO) Only
5 Evaluation of the Overall Survival of Meclinertant Versus Placebo After a First Line Chemotherapy With Cisplatin + Etoposide Completed NCT00290953 Phase 2, Phase 3 SR48692
6 Promoting Heart Health in Preschool Children Completed NCT01551355 Phase 3
7 Testosterone Replacement for Fatigue in Male Hypogonadic Advanced Cancer Patients Completed NCT00965341 Phase 3 Testosterone;Placebo
8 Trial Comparing Calendula Officinalis With Aqueous Cream "Essex" to Treat Skin Reactions From Radiotherapy of Breast Cancer Completed NCT01688479 Phase 3 Calendula Weleda cream (Weleda AG, Sweden) contains extracts of marigold plant (Calendula Officinalis 10%), wool fat and sesame oil;Essex® cream (Schering-Plough), aqueous cream without parabens
9 A Study to Investigate the Efficacy and Safety of Cannabidiol (GWP42003-P; CBD) as Adjunctive Treatment for Seizures Associated With Lennox-Gastaut Syndrome in Children and Adults Completed NCT02224690 Phase 3 GWP42003-P;Placebo Control
10 Antiepileptic Efficacy Study of GWP42003-P in Children and Young Adults With Dravet Syndrome (GWPCARE1) Completed NCT02091375 Phase 3 GWP42003-P;Placebo control
11 A Study to Investigate the Efficacy and Safety of Cannabidiol (GWP42003-P; CBD) as Adjunctive Treatment for Seizures Associated With Lennox-Gastaut Syndrome in Children and Adults Completed NCT02224560 Phase 3 GWP42003-P;Placebo control
12 A Randomized Controlled Trial of Cannabidiol (GWP42003-P, CBD) for Seizures in Tuberous Sclerosis Complex (GWPCARE6) Recruiting NCT02544763 Phase 3 GWP42003-P;Placebo
13 Trial of Cannabidiol (CBD; GWP42003-P) for Infantile Spasms (GWPCARE7) Recruiting NCT02953548 Phase 3 GWP42003-P
14 GWPCARE2 A Study to Investigate the Efficacy and Safety of Cannabidiol (GWP42003-P) in Children and Young Adults With Dravet Syndrome Recruiting NCT02224703 Phase 3 GWP42003-P;Placebo Control
15 An Open-label Extension Trial of Cannabidiol (GWP42003-P, CBD) for Seizures in Tuberous Sclerosis Complex (GWPCARE6) Enrolling by invitation NCT02544750 Phase 3 GWP42003-P
16 Phase 3 Trial of Cannabidiol (CBD; GWP42003-P) for Infantile Spasms: Open-label Extension Phase (GWPCARE7) Enrolling by invitation NCT02954887 Phase 3 GWP42003-P
17 Adjunctive Vitamin D in the Treatment of Non-remitted Depression Terminated NCT02072187 Phase 3
18 Therapeutic Effect of Chinese Herbal Medicine on Food Allergy Unknown status NCT00602160 Phase 2 FAHF-2 (TM)
19 Oral Androgens in Man-4: (Short Title: Oral T-4) Completed NCT00399165 Phase 1, Phase 2 Testosterone Enanthate;Testosterone Enanthate;Dutasteride;Dutasteride
20 EPI-743 in Cobalamin C Defect: Effects on Visual and Neurological Impairment Completed NCT01793090 Phase 2 Epi-743
21 A Randomized Controlled Trial to Investigate Possible Drug-drug Interactions Between Clobazam and Cannabidiol Completed NCT02565108 Phase 2 Placebo;GWP42003-P
22 Determination of the Efficacy and Safety of Psirelax in the Relief of the Disease in Psoriasis Completed NCT01000714 Phase 2 Psirelax
23 An Open-label Extension Trial to Investigate Possible Drug-drug Interactions Between Clobazam and Cannabidiol Completed NCT02564952 Phase 2 GWP42003-P
24 A Dose-ranging Pharmacokinetics and Safety Study of GWP42003-P in Children With Dravet Syndrome (GWPCARE1) Completed NCT02091206 Phase 2 GWP42003-P;Placebo control
25 A Study of GWP42003 as Adjunctive Therapy in the First Line Treatment of Schizophrenia or Related Psychotic Disorder Completed NCT02006628 Phase 2 Placebo;GWP42003
26 Protective Effects of EPI-743 on Noise-Induced Hearing Loss Completed NCT02257983 Phase 2 EPI-743;Placebo
27 Testosterone and Physical Function in HIV+ Men Completed NCT00260143 Phase 2 Testosterone enanthate;Placebo
28 Role of Uttarbasti in the Management of Mutra Marga Sankoch (Urethral Stricture) Completed NCT00535717 Phase 2
29 A Study of Tolerability and Efficacy of Cannabidiol on Tremor in Parkinson's Disease Recruiting NCT02818777 Phase 2 cannabidiol;placebo
30 E-B-FAHF-2, Multi OIT and Xolair (Omalizumab) for Food Allergy Recruiting NCT02879006 Phase 2 Chinese Herbal Medication;Placebo;Omalizumab;Multi OIT
31 A Study to Investigate Possible Drug-drug Interactions Between Stiripentol or Valproate and Cannabidiol in Patients With Epilepsy Recruiting NCT02607891 Phase 2 GWP42003-P;Placebo
32 Testosterone Revival Abolishes Negative Symptoms, Fosters Objective Response and Modulates Enzalutamide Resistance Recruiting NCT02286921 Phase 2 Testosterone cypionate;Enzalutamide;Testosterone Enanthate
33 RE-sensitizing With Supraphysiologic Testosterone to Overcome REsistance (The RESTORE Study) Recruiting NCT02090114 Phase 2 Testosterone cypionate;Testosterone Enanthate;Abiraterone acetate;Enzalutamide (Cohort A = CLOSED TO ACCRUAL)
34 Omega-3 Fatty Acids and Exercise on Mobility and Cognition in Older Women Recruiting NCT03228550 Phase 2
35 An Open-label Extension Trial to Investigate Possible Drug-drug Interactions Between Stiripentol or Valproate and Cannabidiol in Patients With Epilepsy Enrolling by invitation NCT02607904 Phase 2 GWP42003-P
36 Trial Evaluating Devil's Claw for the Treatment of Hip and Knee Osteoarthritis Terminated NCT00295490 Phase 2 Devil Claw;Placebo
37 Fluphenazine Decanoate for Psoriasis Terminated NCT00356200 Phase 2 Fluphenazine Decanoate;Placebo
38 Effect of Flax, Poppy, Sesame & Salba on Postprandial Blood Glucose Response, Vascular, Appetite & Sensory Parameters Completed NCT01579656 Phase 1
39 Cycled Testosterone Replacement Study Completed NCT00957528 Phase 1 Testosterone;Placebo
40 A Study of the Safety and Tolerability of GWP42006 in Healthy Subjects Completed NCT01918735 Phase 1 Placebo;GWP42006
41 Effects of Peanut Consumption on Postprandial Inflammation, Glucose and Triglycerides Completed NCT01173042 Phase 1
42 Effect of Mebo Dressing Versus Standard Care on Managing Donor and Recipient Sites of Split-thickness Skin Graft Recruiting NCT02737943 Phase 1 Moist Exposed Burn Ointment (MEBO);Zagazig
43 Tree Nuts Allergies: Does a Single Nut Allergy Necessitate the Dietary Eviction of Other Tree Nuts? Unknown status NCT01744990 Not Applicable
44 Metvix Daylight PDT in Actinic Keratosis Completed NCT02674048
45 Safety and Efficacy Study of Herbal Supplements in Prediabetic and Mild to Moderate Hyperlipidemic Patients Completed NCT01680211 Not Applicable
46 Vitamin D's Effect on Physical Performance in the Elderly Completed NCT02066441 Not Applicable
47 Comparative Effectiveness of Vitamin D and Repletion Strategies Completed NCT01524874 Not Applicable
48 Atopic Dermatitis (AD) and Food Allergy Completed NCT03168113
49 Evaluate the Effects of Repeated Periods of Modified Fasting to Support Healthy Natural Weight Management and Prevention of Weight Gain Completed NCT03372109 Not Applicable
50 INSIGHT, A Comprehensive, Multidisciplinary Brain Training System Completed NCT02780739 Not Applicable

Search 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, Skin, Testes, Heart, Brain, Bone

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
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
2
Mislocalization of K+ channels causes the renal salt wasting in EAST/SeSAME syndrome. ( 24561201 )
2014
3
Variable loss of Kir4.1 channel function in SeSAME syndrome mutations. ( 20678478 )
2010
4
Molecular mechanisms of EAST/SeSAME syndrome mutations in Kir4.1 (KCNJ10). ( 20807765 )
2010
5
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 189)
# 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.193C> T (p.Arg65Cys) single nucleotide variant Pathogenic rs387906834 GRCh37 Chromosome 1, 160012130: 160012130
16 KCNJ10 NM_002241.4(KCNJ10): c.193C> T (p.Arg65Cys) single nucleotide variant Pathogenic rs387906834 GRCh38 Chromosome 1, 160042340: 160042340
17 KCNJ10 KCNJ10, PHE75LEU single nucleotide variant Pathogenic
18 KCNJ10 KCNJ10, 1-BP DEL, 775G deletion Pathogenic
19 KCNJ10 NM_002241.4(KCNJ10): c.524G> A (p.Arg175Gln) single nucleotide variant Pathogenic rs397514673 GRCh37 Chromosome 1, 160011799: 160011799
20 KCNJ10 NM_002241.4(KCNJ10): c.524G> A (p.Arg175Gln) single nucleotide variant Pathogenic rs397514673 GRCh38 Chromosome 1, 160042009: 160042009
21 KCNJ10 NM_002241.4(KCNJ10): c.530A> G (p.Glu177Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs145947380 GRCh37 Chromosome 1, 160011793: 160011793
22 KCNJ10 NM_002241.4(KCNJ10): c.530A> G (p.Glu177Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs145947380 GRCh38 Chromosome 1, 160042003: 160042003
23 KCNJ10 NM_002241.4(KCNJ10): c.1061A> G (p.Lys354Arg) single nucleotide variant Uncertain significance rs142596580 GRCh37 Chromosome 1, 160011262: 160011262
24 KCNJ10 NM_002241.4(KCNJ10): c.1061A> G (p.Lys354Arg) single nucleotide variant Uncertain significance rs142596580 GRCh38 Chromosome 1, 160041472: 160041472
25 KCNJ10 NM_002241.4(KCNJ10): c.1043G> A (p.Arg348His) single nucleotide variant Uncertain significance rs146396982 GRCh37 Chromosome 1, 160011280: 160011280
26 KCNJ10 NM_002241.4(KCNJ10): c.1043G> A (p.Arg348His) single nucleotide variant Uncertain significance rs146396982 GRCh38 Chromosome 1, 160041490: 160041490
27 KCNJ10 NM_002241.4(KCNJ10): c.735C> G (p.Asp245Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs146426296 GRCh37 Chromosome 1, 160011588: 160011588
28 KCNJ10 NM_002241.4(KCNJ10): c.735C> G (p.Asp245Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs146426296 GRCh38 Chromosome 1, 160041798: 160041798
29 KCNJ10 NM_002241.4(KCNJ10): c.301C> A (p.Pro101Thr) single nucleotide variant Uncertain significance rs375361490 GRCh37 Chromosome 1, 160012022: 160012022
30 KCNJ10 NM_002241.4(KCNJ10): c.301C> A (p.Pro101Thr) single nucleotide variant Uncertain significance rs375361490 GRCh38 Chromosome 1, 160042232: 160042232
31 KCNJ10 NM_002241.4(KCNJ10): c.221C> T (p.Thr74Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs796052604 GRCh37 Chromosome 1, 160012102: 160012102
32 KCNJ10 NM_002241.4(KCNJ10): c.221C> T (p.Thr74Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs796052604 GRCh38 Chromosome 1, 160042312: 160042312
33 KCNJ10 NM_002241.4(KCNJ10): c.179T> C (p.Ile60Thr) single nucleotide variant Uncertain significance rs759993423 GRCh37 Chromosome 1, 160012144: 160012144
34 KCNJ10 NM_002241.4(KCNJ10): c.179T> C (p.Ile60Thr) single nucleotide variant Uncertain significance rs759993423 GRCh38 Chromosome 1, 160042354: 160042354
35 KCNJ10 NM_002241.4(KCNJ10): c.52C> T (p.Arg18Trp) single nucleotide variant Uncertain significance rs138457635 GRCh37 Chromosome 1, 160012271: 160012271
36 KCNJ10 NM_002241.4(KCNJ10): c.52C> T (p.Arg18Trp) single nucleotide variant Uncertain significance rs138457635 GRCh38 Chromosome 1, 160042481: 160042481
37 KCNJ10 NM_002241.4(KCNJ10): c.76C> T (p.Arg26Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs138943405 GRCh38 Chromosome 1, 160042457: 160042457
38 KCNJ10 NM_002241.4(KCNJ10): c.76C> T (p.Arg26Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs138943405 GRCh37 Chromosome 1, 160012247: 160012247
39 KCNJ10 NM_002241.4(KCNJ10): c.136G> A (p.Asp46Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs141553756 GRCh37 Chromosome 1, 160012187: 160012187
40 KCNJ10 NM_002241.4(KCNJ10): c.136G> A (p.Asp46Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs141553756 GRCh38 Chromosome 1, 160042397: 160042397
41 KCNJ10 NM_002241.4(KCNJ10): c.62T> C (p.Met21Thr) single nucleotide variant Uncertain significance rs878854483 GRCh37 Chromosome 1, 160012261: 160012261
42 KCNJ10 NM_002241.4(KCNJ10): c.62T> C (p.Met21Thr) single nucleotide variant Uncertain significance rs878854483 GRCh38 Chromosome 1, 160042471: 160042471
43 KCNJ10 NM_002241.4(KCNJ10): c.148C> T (p.Leu50Phe) single nucleotide variant Uncertain significance rs773510302 GRCh37 Chromosome 1, 160012175: 160012175
44 KCNJ10 NM_002241.4(KCNJ10): c.148C> T (p.Leu50Phe) single nucleotide variant Uncertain significance rs773510302 GRCh38 Chromosome 1, 160042385: 160042385
45 KCNJ10 NM_002241.4(KCNJ10): c.615A> G (p.Lys205=) single nucleotide variant Conflicting interpretations of pathogenicity rs142228240 GRCh37 Chromosome 1, 160011708: 160011708
46 KCNJ10 NM_002241.4(KCNJ10): c.615A> G (p.Lys205=) single nucleotide variant Conflicting interpretations of pathogenicity rs142228240 GRCh38 Chromosome 1, 160041918: 160041918
47 KCNJ10 NM_002241.4(KCNJ10): c.*3617A> T single nucleotide variant Uncertain significance rs754184905 GRCh37 Chromosome 1, 160007566: 160007566
48 KCNJ10 NM_002241.4(KCNJ10): c.*3617A> T single nucleotide variant Uncertain significance rs754184905 GRCh38 Chromosome 1, 160037776: 160037776
49 KCNJ10 NM_002241.4(KCNJ10): c.*3170G> A single nucleotide variant Uncertain significance rs886045395 GRCh37 Chromosome 1, 160008013: 160008013
50 KCNJ10 NM_002241.4(KCNJ10): c.*3170G> A single nucleotide variant Uncertain significance rs886045395 GRCh38 Chromosome 1, 160038223: 160038223

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
12.85 AQP2 AVP FXYD2 SLC12A3 TRPM6
2 11.79 KCNA1 KCNJ10 KCNJ16
3
Show member pathways
11.35 FXYD2 KCNJ10 KCNJ16
4 11.14 FXYD2 TRPM6
5 11.05 FXYD2 MGAM
6 11.01 AQP2 AVP
7
Show member pathways
10.97 KCNA1 KCNJ10 KCNJ16
8 10.62 FXYD2 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 integral component of membrane GO:0016021 9.92 AQP2 FXYD2 KCNA1 KCNJ10 KCNJ16 MGAM
2 plasma membrane GO:0005886 9.86 AQP2 FXYD2 KCNA1 KCNJ10 KCNJ16 MGAM
3 integral component of plasma membrane GO:0005887 9.63 AQP2 FXYD2 KCNA1 KCNJ10 KCNJ16 SLC12A3
4 basolateral plasma membrane GO:0016323 9.26 AQP2 FXYD2 KCNJ10 KCNJ16
5 apical plasma membrane GO:0016324 9.02 AQP2 KCNA1 MGAM SLC12A3 TRPM6

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.8 AQP2 KCNA1 SLC12A3 TRPM6
2 regulation of ion transmembrane transport GO:0034765 9.63 KCNA1 KCNJ10 KCNJ16
3 potassium ion transmembrane transport GO:0071805 9.58 KCNA1 KCNJ10 KCNJ16
4 social behavior GO:0035176 9.52 AVP MECP2
5 renal water homeostasis GO:0003091 9.51 AQP2 AVP
6 neuromuscular process GO:0050905 9.48 KCNA1 MECP2
7 potassium ion transport GO:0006813 9.46 FXYD2 KCNA1 KCNJ10 KCNJ16
8 water transport GO:0006833 9.43 AQP2 AVP
9 potassium ion import GO:0010107 9.43 KCNJ10 KCNJ16 SLC12A3
10 ion transport GO:0006811 9.43 FXYD2 KCNA1 KCNJ10 KCNJ16 SLC12A3 TRPM6
11 potassium ion homeostasis GO:0055075 9.37 KCNJ10 SLC12A3
12 startle response GO:0001964 9.32 KCNA1 MECP2
13 ion transmembrane transport GO:0034220 9.02 AQP2 FXYD2 KCNJ10 KCNJ16 TRPM6

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 ion channel activity GO:0005216 9.33 FXYD2 KCNA1 TRPM6
2 inward rectifier potassium channel activity GO:0005242 9.26 KCNJ10 KCNJ16
3 voltage-gated ion channel activity GO:0005244 9.13 KCNA1 KCNJ10 KCNJ16
4 G-protein activated inward rectifier potassium channel activity GO:0015467 8.62 KCNJ10 KCNJ16

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
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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