SESAMES
MCID: SZR026
MIFTS: 59

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 58 76
Sesame Syndrome 58 12 54 60 76 30 13 6 45 41 74
East Syndrome 58 12 54 60 76 15
Seizures-Sensorineural Deafness-Ataxia-Intellectual Disability-Electrolyte Imbalance Syndrome 54 60
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation and Electrolyte Imbalance 12 54
Epilepsy-Ataxia-Sensorineural Deafness-Tubulopathy Syndrome 54 60
Epilepsy, Ataxia, Sensorineural Deafness and Tubulopathy 12 54
Sesames 58 76
Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, and Electrolyte Imbalance Syndrome 6
Seizures - Sensorineural Deafness - Ataxia - Intellectual Disability - Electrolyte Imbalance 54
Seizures-Sensorineural Deafness-Ataxia-Mental Retardation-Electrolyte Imbalance 38
Epilepsy, Ataxia, Sensorineural Deafness, and Tubulopathy 58
Epilepsy Ataxia Sensorineural Deafness and Tubulopathy 76

Characteristics:

Orphanet epidemiological data:

60
east syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset of seizures in first months of life


HPO:

33
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 : 54 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 hypokalemia and hyperglycemia, 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 Transmission across Chemical Synapses and Dopamine-DARPP32 Feedback onto cAMP Pathway. The drugs Ethanol and Testosterone enanthate have been mentioned in the context of this disorder. Affiliated tissues include kidney, skin and brain, 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 : 76 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 : 77 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 68)
# Related Disease Score Top Affiliating Genes
1 hypokalemia 29.9 AQP2 KCNJ1 SLC12A3
2 hyperglycemia 29.2 ABCC8 IGF1 KCNJ11
3 hypomagnesemia 2, renal 11.0
4 primary hypomagnesemia 11.0
5 epilepsy 10.4
6 ataxia and polyneuropathy, adult-onset 10.3
7 food allergy 10.2
8 renal tubular transport disease 10.1 KCNJ1 SLC12A3 STK39
9 pendred syndrome 10.1 AQP2 KCNJ10 SLC12A3
10 frasier syndrome 10.1
11 nut allergy 10.1
12 munchausen by proxy 10.1 ABCC8 KCNJ11
13 neutrophil migration 10.1
14 horns in sheep 10.1
15 cardiomyopathy, dilated, 1o 10.1 ABCC8 KCNJ11
16 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 10.0 ABCC8 KCNJ11
17 impaired renal function disease 10.0 AQP2 AQP3
18 atherosclerosis susceptibility 10.0
19 myocardial infarction 10.0
20 leukemia 10.0
21 lymphoid leukemia 10.0
22 hepatic veno-occlusive disease 10.0
23 allergic encephalomyelitis 10.0
24 acute insulin response 9.9 ABCC8 KCNJ11
25 blood group, colton system 9.8
26 colorectal cancer 9.8
27 diabetes mellitus, noninsulin-dependent 9.8
28 enterocolitis 9.8
29 muscle hypertrophy 9.8
30 sclerosing cholangitis, neonatal 9.8
31 acute myocardial infarction 9.8
32 arthritis 9.8
33 burns 9.8
34 diabetes mellitus 9.8
35 hereditary hemorrhagic telangiectasia 9.8
36 liver disease 9.8
37 osteoarthritis 9.8
38 ulcerative colitis 9.8
39 colitis 9.8
40 nonalcoholic fatty liver disease 9.8
41 endocarditis 9.8
42 amnestic disorder 9.8
43 pulmonary edema 9.8
44 allergic hypersensitivity disease 9.8
45 telangiectasis 9.8
46 kwashiorkor 9.8
47 urticaria 9.8
48 dermatitis 9.8
49 contact dermatitis 9.8
50 allergic contact dermatitis 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...

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

60 33 (show all 32)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 60 33 hallmark (90%) Very frequent (99-80%) HP:0001250
2 ataxia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001251
3 failure to thrive 60 33 hallmark (90%) Very frequent (99-80%) HP:0001508
4 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
5 sensorineural hearing impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000407
6 intellectual disability, moderate 60 33 hallmark (90%) Very frequent (99-80%) HP:0002342
7 abnormal renal tubule morphology 33 hallmark (90%) HP:0000091
8 abnormality of the mitochondrion 60 33 frequent (33%) Frequent (79-30%) HP:0012103
9 short stature 33 occasional (7.5%) HP:0004322
10 chronic axonal neuropathy 33 occasional (7.5%) HP:0007267
11 peripheral hypomyelination 33 occasional (7.5%) HP:0007182
12 intellectual disability 33 HP:0001249
13 muscular hypotonia 33 HP:0001252
14 delayed speech and language development 33 HP:0000750
15 polydipsia 33 HP:0001959
16 hypokalemia 33 HP:0002900
17 intention tremor 33 HP:0002080
18 abnormality of the renal tubule 60 Very frequent (99-80%)
19 hyperaldosteronism 33 HP:0000859
20 dysdiadochokinesis 33 HP:0002075
21 cerebellar atrophy 33 HP:0001272
22 generalized hypotonia 33 HP:0001290
23 renal salt wasting 33 HP:0000127
24 increased circulating renin level 33 HP:0000848
25 hypomagnesemia 33 HP:0002917
26 renal potassium wasting 33 HP:0000128
27 enuresis 33 HP:0000805
28 salt craving 33 HP:0030083
29 hypocalciuria 33 HP:0003127
30 hypokalemic metabolic alkalosis 33 HP:0001960
31 polyuria 33 HP:0000103
32 renal sodium wasting 33 HP:0012606

Symptoms via clinical synopsis from OMIM:

58
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

Head And Neck Ears:
hearing loss, sensorineural

Cardiovascular Vascular:
no hypertension

Abdomen Gastrointestinal:
polydipsia
salt craving

Genitourinary Kidneys:
renal potassium wasting
renal sodium wasting

Metabolic Features:
metabolic alkalosis

Growth Height:
short stature (in some patients)

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

Clinical features from OMIM:

612780

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:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 9.9 ABCC8 AQP2 AQP3 CDH16 IGF1 KCNA1

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

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.96 AQP2 AQP3 KCNA1 KCNJ1 KCNJ10 KCNJ11
2 cardiovascular system MP:0005385 9.85 AQP3 IGF1 KCNA1 KCNJ1 KCNJ11 KCNJ12
3 homeostasis/metabolism MP:0005376 9.77 ABCC8 AQP2 AQP3 IGF1 KCNA1 KCNJ1
4 renal/urinary system MP:0005367 9.17 AQP2 AQP3 IGF1 KCNJ1 KCNJ10 SLC12A3

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 174)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ethanol Approved Phase 4,Phase 3,Phase 2 64-17-5 702
2
Testosterone enanthate Approved Phase 4,Phase 3,Phase 1,Phase 2 315-37-7 9416
3
Testosterone undecanoate Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 5949-44-0
4
Methyltestosterone Approved Phase 4,Phase 3,Phase 1,Phase 2 58-18-4 6010
5
Testosterone Approved, Experimental, Investigational Phase 4,Phase 3,Phase 1,Phase 2 58-22-0, 481-30-1 10204 6013
6
Aminolevulinic acid Approved Phase 4 106-60-5 137
7
Progesterone Approved, Vet_approved Phase 4 57-83-0 5994
8 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2,Phase 1
9 Antineoplastic Agents, Hormonal Phase 4,Phase 3,Phase 1,Phase 2
10 Testosterone 17 beta-cypionate Phase 4,Phase 3,Phase 1,Phase 2
11 Anabolic Agents Phase 4,Phase 3,Phase 1,Phase 2
12 Androgens Phase 4,Phase 3,Phase 1,Phase 2
13 Hormones Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable,Early Phase 1
14 Hormone Antagonists Phase 4,Phase 3,Phase 1,Phase 2,Early Phase 1
15 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 1,Phase 2,Early Phase 1
16 Dermatologic Agents Phase 4,Phase 2,Phase 1
17 Photosensitizing Agents Phase 4
18 Methyl 5-aminolevulinate Phase 4
19 Progestins Phase 4
20 Anti-Infective Agents, Local Phase 4
21 Aloe Phase 4
22 Strawberry Approved Phase 3,Phase 2
23
Cisplatin Approved Phase 2, Phase 3 15663-27-1 2767 441203 84093
24
Etoposide Approved Phase 2, Phase 3 33419-42-0 36462
25
Benzocaine Approved, Investigational Phase 3,Phase 2,Early Phase 1 1994-09-7, 94-09-7 2337
26
tannic acid Approved Phase 3,Phase 2,Early Phase 1 1401-55-4
27
Vitamin D Approved, Nutraceutical, Vet_approved Phase 3,Not Applicable 1406-16-2
28
Vitamin D3 Approved, Nutraceutical Phase 3,Not Applicable 67-97-0 5280795 6221
29
Calcium Approved, Nutraceutical Phase 3,Not Applicable 7440-70-2 271
30
Ergocalciferol Approved, Nutraceutical Phase 3,Not Applicable 50-14-6 5280793
31
Beta carotene Approved, Nutraceutical Phase 3 7235-40-7
32 Anticonvulsants Phase 3,Phase 2,Early Phase 1
33 Epidiolex Phase 3,Phase 2,Early Phase 1
34 Etoposide phosphate Phase 2, Phase 3
35 Topoisomerase Inhibitors Phase 2, Phase 3
36 Antineoplastic Agents, Phytogenic Phase 2, Phase 3
37 Calendula Phase 3
38 Ergocalciferols Phase 3,Not Applicable
39 Calciferol Phase 3,Not Applicable
40 Vitamins Phase 3,Phase 2,Not Applicable
41 Bone Density Conservation Agents Phase 3,Not Applicable
42 Calcium, Dietary Phase 3,Not Applicable
43 Nutrients Phase 3,Phase 2,Not Applicable
44 Trace Elements Phase 3,Phase 2,Not Applicable
45 Vitamin D2 Phase 3,Not Applicable
46 Micronutrients Phase 3,Phase 2,Not Applicable
47 Carotenoids Phase 3,Phase 2
48
Dutasteride Approved, Investigational Phase 1, Phase 2 164656-23-9 6918296 152945
49
Methylcobalamin Approved, Experimental, Investigational Phase 2 13422-55-4
50
Hydroxocobalamin Approved Phase 2 13422-51-0 15589840 11953898

Interventional clinical trials:

(show top 50) (show all 69)
# 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 Vaginal Compared to Intramuscular Progesterone for Frozen Embryo Transfer Completed NCT02254577 Phase 4 Endometrin® plus Progesterone in Oil (PIO);Progesterone in Oil (PIO) Only
4 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 placebo
5 GWPCARE2 A Study to Investigate the Efficacy and Safety of Cannabidiol (GWP42003-P) in Children and Young Adults With Dravet Syndrome Unknown status NCT02224703 Phase 3 GWP42003-P;Placebo Control
6 Evaluation of the Overall Survival of Meclinertant Versus Placebo After a First Line Chemotherapy With Cisplatin + Etoposide Completed NCT00290953 Phase 2, Phase 3 SR48692
7 Promoting Heart Health in Preschool Children Completed NCT01551355 Phase 3
8 Testosterone Replacement for Fatigue in Male Hypogonadic Advanced Cancer Patients Completed NCT00965341 Phase 3 Testosterone;Placebo
9 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
10 Antiepileptic Efficacy Study of GWP42003-P in Children and Young Adults With Dravet Syndrome (GWPCARE1) Completed NCT02091375 Phase 3 GWP42003-P 20 mg/kg/day Dose;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 NCT02224690 Phase 3 GWP42003-P 20 mg/kg/day Dose;Placebo
12 Efficacy and Safety of GWP42003-P for Seizures Associated With Lennox-Gastaut Syndrome in Children and Adults Completed NCT02224560 Phase 3 GWP42003-P;Placebo control
13 A Randomized Controlled Trial of Cannabidiol (GWP42003-P, CBD) for Seizures in Tuberous Sclerosis Complex (GWPCARE6) Active, not recruiting NCT02544763 Phase 3 GWP42003-P;Placebo
14 Phase 3 Trial of Cannabidiol (CBD; GWP42003-P) for Infantile Spasms: Open-label Extension Phase (GWPCARE7) Active, not recruiting NCT02954887 Phase 3 GWP42003-P
15 Trial of Cannabidiol (CBD; GWP42003-P) for Infantile Spasms (GWPCARE7) Active, not recruiting NCT02953548 Phase 3 GWP42003-P
16 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
17 Efficacy and Safety of Cannabidiol Oral Solution (GWP42003-P, CBD-OS) in Patients With Rett Syndrome Not yet recruiting NCT03848832 Phase 3 GWP42003-P;Placebo
18 Adjunctive Vitamin D in the Treatment of Non-remitted Depression Terminated NCT02072187 Phase 3
19 Therapeutic Effect of Chinese Herbal Medicine on Food Allergy Unknown status NCT00602160 Phase 2 FAHF-2 (TM)
20 Oral Androgens in Man-4: (Short Title: Oral T-4) Completed NCT00399165 Phase 1, Phase 2 Testosterone Enanthate;Testosterone Enanthate;Dutasteride;Dutasteride
21 A Study of Tolerability and Efficacy of Cannabidiol on Tremor in Parkinson's Disease Completed NCT02818777 Phase 2 cannabidiol
22 EPI-743 in Cobalamin C Defect: Effects on Visual and Neurological Impairment Completed NCT01793090 Phase 2 Epi-743
23 Determination of the Efficacy and Safety of Psirelax in the Relief of the Disease in Psoriasis Completed NCT01000714 Phase 2 Psirelax
24 A Study of GWP42003 as Adjunctive Therapy in the First Line Treatment of Schizophrenia or Related Psychotic Disorder Completed NCT02006628 Phase 2 Placebo;GWP42003
25 Protective Effects of EPI-743 on Noise-Induced Hearing Loss Completed NCT02257983 Phase 2 EPI-743;Placebo
26 Testosterone and Physical Function in HIV+ Men Completed NCT00260143 Phase 2 Testosterone enanthate;Placebo
27 A Randomized Controlled Trial to Investigate Possible Drug-drug Interactions Between Clobazam and Cannabidiol Completed NCT02565108 Phase 2 GWP42003-P 20 mg/kg/Day Dose;Placebo;Clobazam
28 An Open-label Extension Study to Investigate Possible Drug-drug Interactions Between Clobazam and Cannabidiol Completed NCT02564952 Phase 2 GWP42003-P;Clobazam
29 A Dose-ranging Pharmacokinetics and Safety Study of GWP42003-P in Children With Dravet Syndrome (GWPCARE1) Completed NCT02091206 Phase 2 GWP42003-P 5 mg/kg/day Dose;Placebo control;GWP42003-P 10 mg/kg/day Dose;GWP42003-P 20 mg/kg/day Dose
30 Role of Uttarbasti in the Management of Mutra Marga Sankoch (Urethral Stricture) Completed NCT00535717 Phase 2
31 Omega-3 Fatty Acids and Exercise on Mobility and Cognition in Older Women Completed NCT03228550 Phase 2
32 E-B-FAHF-2, Multi OIT and Xolair (Omalizumab) for Food Allergy Recruiting NCT02879006 Phase 2 Chinese Herbal Medication;Placebo;Omalizumab;Multi OIT
33 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
34 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)
35 Testosterone Revival Abolishes Negative Symptoms, Fosters Objective Response and Modulates Enzalutamide Resistance Active, not recruiting NCT02286921 Phase 2 Testosterone cypionate;Enzalutamide;Testosterone Enanthate
36 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
37 Safety and Tolerability of Cannabidivarin (CBDV) in Children and Young Adults With Autism Spectrum Disorder Not yet recruiting NCT03849456 Phase 2 GWP42006
38 Seal, Stopping Atopic Dermatitis and Allergy Study Not yet recruiting NCT03742414 Phase 1, Phase 2
39 A Study to Examine the Efficacy of a Therapeutic THX-110 for Tourette Syndrome Not yet recruiting NCT03651726 Phase 2 THX-110 (dronabinol plus PEA);Placebo
40 MEBO Ointment and Hyaluronic Acid Gel in the Management of Pain After Free Gingival Graft Harvesting Not yet recruiting NCT03728244 Phase 1, Phase 2 MEBO ointment;Hyaluronic Acid gel
41 Trial Evaluating Devil's Claw for the Treatment of Hip and Knee Osteoarthritis Terminated NCT00295490 Phase 2 Devil Claw;Placebo
42 Fluphenazine Decanoate for Psoriasis Terminated NCT00356200 Phase 2 Fluphenazine Decanoate;Placebo
43 Effect of Flax, Poppy, Sesame & Salba on Postprandial Blood Glucose Response, Vascular, Appetite & Sensory Parameters Completed NCT01579656 Phase 1
44 Cycled Testosterone Replacement Study Completed NCT00957528 Phase 1 Testosterone;Placebo
45 A Study of the Safety and Tolerability of GWP42006 in Healthy Subjects Completed NCT01918735 Phase 1 Placebo;GWP42006
46 Effects of Peanut Consumption on Postprandial Inflammation, Glucose and Triglycerides Completed NCT01173042 Phase 1
47 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
48 Metvix Daylight PDT in Actinic Keratosis Completed NCT02674048
49 Safety and Efficacy Study of Herbal Supplements in Prediabetic and Mild to Moderate Hyperlipidemic Patients Completed NCT01680211 Not Applicable
50 Tree Nuts Allergies: Does a Single Nut Allergy Necessitate the Dietary Eviction of Other Tree Nuts? Completed NCT01744990 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 30 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:

42
Kidney, Skin, Brain, Testes, Pancreas, Neutrophil, Thymus

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 )
2019
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
KCNJ10 mutations disrupt function in patients with EAST syndrome. ( 21849804 )
2011
5
Variable loss of Kir4.1 channel function in SeSAME syndrome mutations. ( 20678478 )
2010
6
Molecular mechanisms of EAST/SeSAME syndrome mutations in Kir4.1 (KCNJ10). ( 20807765 )
2010
7
KCNJ10 gene mutations causing EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy) disrupt channel function. ( 20651251 )
2010
8
Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10. ( 19289823 )
2009
9
Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations. ( 19420365 )
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:

76
# 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 rs751625111

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

6 (show top 50) (show all 217)
# 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 Pathogenic rs137853071 GRCh37 Chromosome 1, 160011434: 160011434
12 KCNJ10 NM_002241.4(KCNJ10): c.889C> T (p.Arg297Cys) single nucleotide variant 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 NM_002241.5(KCNJ10): c.225T> G (p.Phe75Leu) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 160042308: 160042308
20 KCNJ10 NM_002241.5(KCNJ10): c.225T> G (p.Phe75Leu) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 160012098: 160012098
21 KCNJ10 NM_002241.5(KCNJ10): c.775del (p.Val259Terfs) deletion Pathogenic GRCh37 Chromosome 1, 160011548: 160011548
22 KCNJ10 NM_002241.5(KCNJ10): c.775del (p.Val259Terfs) deletion Pathogenic GRCh38 Chromosome 1, 160041758: 160041758
23 KCNJ10 NM_002241.4(KCNJ10): c.524G> A (p.Arg175Gln) single nucleotide variant Pathogenic rs397514673 GRCh37 Chromosome 1, 160011799: 160011799
24 KCNJ10 NM_002241.4(KCNJ10): c.524G> A (p.Arg175Gln) single nucleotide variant Pathogenic rs397514673 GRCh38 Chromosome 1, 160042009: 160042009
25 KCNJ10 NM_002241.4(KCNJ10): c.53G> A (p.Arg18Gln) single nucleotide variant Benign/Likely benign rs115466046 GRCh37 Chromosome 1, 160012270: 160012270
26 KCNJ10 NM_002241.4(KCNJ10): c.53G> A (p.Arg18Gln) single nucleotide variant Benign/Likely benign rs115466046 GRCh38 Chromosome 1, 160042480: 160042480
27 KCNJ10 NM_002241.4(KCNJ10): c.811C> T (p.Arg271Cys) single nucleotide variant Benign rs1130183 GRCh37 Chromosome 1, 160011512: 160011512
28 KCNJ10 NM_002241.4(KCNJ10): c.811C> T (p.Arg271Cys) single nucleotide variant Benign rs1130183 GRCh38 Chromosome 1, 160041722: 160041722
29 KCNJ10 NM_002241.4(KCNJ10): c.812G> A (p.Arg271His) single nucleotide variant Benign/Likely benign rs3795339 GRCh37 Chromosome 1, 160011511: 160011511
30 KCNJ10 NM_002241.4(KCNJ10): c.812G> A (p.Arg271His) single nucleotide variant Benign/Likely benign rs3795339 GRCh38 Chromosome 1, 160041721: 160041721
31 KCNJ10 NM_002241.4(KCNJ10): c.1092A> G (p.Gln364=) single nucleotide variant Benign/Likely benign rs145588542 GRCh37 Chromosome 1, 160011231: 160011231
32 KCNJ10 NM_002241.4(KCNJ10): c.1092A> G (p.Gln364=) single nucleotide variant Benign/Likely benign rs145588542 GRCh38 Chromosome 1, 160041441: 160041441
33 KCNJ10 NM_002241.4(KCNJ10): c.-43G> A single nucleotide variant Conflicting interpretations of pathogenicity rs372841245 GRCh37 Chromosome 1, 160039854: 160039854
34 KCNJ10 NM_002241.4(KCNJ10): c.-43G> A single nucleotide variant Conflicting interpretations of pathogenicity rs372841245 GRCh38 Chromosome 1, 160070064: 160070064
35 KCNJ10 NM_002241.4(KCNJ10): c.530A> G (p.Glu177Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs145947380 GRCh37 Chromosome 1, 160011793: 160011793
36 KCNJ10 NM_002241.4(KCNJ10): c.530A> G (p.Glu177Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs145947380 GRCh38 Chromosome 1, 160042003: 160042003
37 KCNJ10 NM_002241.4(KCNJ10): c.1061A> G (p.Lys354Arg) single nucleotide variant Uncertain significance rs142596580 GRCh37 Chromosome 1, 160011262: 160011262
38 KCNJ10 NM_002241.4(KCNJ10): c.1061A> G (p.Lys354Arg) single nucleotide variant Uncertain significance rs142596580 GRCh38 Chromosome 1, 160041472: 160041472
39 KCNJ10 NM_002241.4(KCNJ10): c.1043G> A (p.Arg348His) single nucleotide variant Uncertain significance rs146396982 GRCh37 Chromosome 1, 160011280: 160011280
40 KCNJ10 NM_002241.4(KCNJ10): c.1043G> A (p.Arg348His) single nucleotide variant Uncertain significance rs146396982 GRCh38 Chromosome 1, 160041490: 160041490
41 KCNJ10 NM_002241.4(KCNJ10): c.735C> G (p.Asp245Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs146426296 GRCh37 Chromosome 1, 160011588: 160011588
42 KCNJ10 NM_002241.4(KCNJ10): c.735C> G (p.Asp245Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs146426296 GRCh38 Chromosome 1, 160041798: 160041798
43 KCNJ10 NM_002241.4(KCNJ10): c.688C> T (p.Arg230Trp) single nucleotide variant Uncertain significance rs149615470 GRCh37 Chromosome 1, 160011635: 160011635
44 KCNJ10 NM_002241.4(KCNJ10): c.688C> T (p.Arg230Trp) single nucleotide variant Uncertain significance rs149615470 GRCh38 Chromosome 1, 160041845: 160041845
45 KCNJ10 NM_002241.4(KCNJ10): c.652C> T (p.Leu218Phe) single nucleotide variant Uncertain significance rs558502886 GRCh37 Chromosome 1, 160011671: 160011671
46 KCNJ10 NM_002241.4(KCNJ10): c.652C> T (p.Leu218Phe) single nucleotide variant Uncertain significance rs558502886 GRCh38 Chromosome 1, 160041881: 160041881
47 KCNJ10 NM_002241.4(KCNJ10): c.301C> A (p.Pro101Thr) single nucleotide variant Uncertain significance rs375361490 GRCh37 Chromosome 1, 160012022: 160012022
48 KCNJ10 NM_002241.4(KCNJ10): c.301C> A (p.Pro101Thr) single nucleotide variant Uncertain significance rs375361490 GRCh38 Chromosome 1, 160042232: 160042232
49 KCNJ10 NM_002241.4(KCNJ10): c.221C> T (p.Thr74Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs796052604 GRCh37 Chromosome 1, 160012102: 160012102
50 KCNJ10 NM_002241.4(KCNJ10): c.221C> T (p.Thr74Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs796052604 GRCh38 Chromosome 1, 160042312: 160042312

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...

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 apical plasma membrane GO:0016324 9.77 AQP2 KCNA1 SLC12A3 STK39 TRPM6
2 inward rectifying potassium channel GO:0008282 9.4 ABCC8 KCNJ11
3 voltage-gated potassium channel complex GO:0008076 9.35 KCNA1 KCNJ1 KCNJ16 KCNJ3 KCNJ4
4 basolateral plasma membrane GO:0016323 9.17 AQP2 AQP3 CDH16 KCNJ10 KCNJ16 KCNJ4
5 membrane GO:0016020 10.25 ABCC8 AQP2 AQP3 CDH16 KCNA1 KCNJ1
6 plasma membrane GO:0005886 10.13 ABCC8 AQP2 AQP3 CDH16 KCNA1 KCNJ1
7 integral component of membrane GO:0016021 10.06 ABCC8 AQP2 AQP3 CDH16 KCNA1 KCNJ1

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 9.97 KCNJ1 KCNJ10 KCNJ11 KCNJ13 KCNJ15 KCNJ16
2 potassium ion transmembrane transport GO:0071805 9.91 ABCC8 KCNA1 KCNJ1 KCNJ10 KCNJ11 KCNJ13
3 potassium ion transport GO:0006813 9.9 ABCC8 KCNA1 KCNJ1 KCNJ10 KCNJ11 KCNJ12
4 transmembrane transport GO:0055085 9.88 ABCC8 AQP2 AQP3 KCNA1 SLC12A3 TRPM6
5 regulation of membrane potential GO:0042391 9.72 KCNA1 KCNJ10 KCNJ11
6 potassium ion import across plasma membrane GO:1990573 9.65 KCNJ1 KCNJ10 KCNJ11 KCNJ12 KCNJ13 KCNJ15
7 excretion GO:0007588 9.61 AQP2 AQP3 KCNJ1
8 neuromuscular process GO:0050905 9.56 KCNA1 MECP2
9 water transport GO:0006833 9.54 AQP2 AQP3
10 startle response GO:0001964 9.52 KCNA1 MECP2
11 potassium ion homeostasis GO:0055075 9.51 KCNJ10 SLC12A3
12 positive regulation of potassium ion transport GO:0043268 9.49 ABCC8 STK39
13 positive regulation of voltage-gated potassium channel activity GO:1903818 9.48 ABCC8 KCNA1
14 glycerol transport GO:0015793 9.46 AQP2 AQP3
15 regulation of ion transmembrane transport GO:0034765 9.32 KCNA1 KCNJ1 KCNJ10 KCNJ11 KCNJ12 KCNJ13
16 ion transport GO:0006811 10.1 KCNA1 KCNJ1 KCNJ10 KCNJ11 KCNJ12 KCNJ13

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 potassium channel activity GO:0005267 9.5 ABCC8 KCNA1 KCNJ10
3 ATP-activated inward rectifier potassium channel activity GO:0015272 9.43 KCNJ1 KCNJ10 KCNJ11
4 water channel activity GO:0015250 9.37 AQP2 AQP3
5 inward rectifier potassium channel activity GO:0005242 9.28 KCNJ1 KCNJ10 KCNJ11 KCNJ12 KCNJ13 KCNJ15
6 G-protein activated inward rectifier potassium channel activity GO:0015467 8.85 KCNJ3

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

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