SESAMES
MCID: SZR026
MIFTS: 57

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 72
Sesame Syndrome 57 12 20 58 72 13 44 39 70
East Syndrome 57 12 20 58 72 29 6 15
Seizures-Sensorineural Deafness-Ataxia-Intellectual Disability-Electrolyte Imbalance Syndrome 20 58
Epilepsy-Ataxia-Sensorineural Deafness-Tubulopathy Syndrome 20 58
Epilepsy, Ataxia, Sensorineural Deafness and Tubulopathy 12 20
Sesames 57 72
Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, and Electrolyte Imbalance Syndrome 6
Seizures-Sensorineural Hearing Loss-Ataxia-Intellectual Disability-Electrolyte Imbalance Syndrome 58
Seizures - Sensorineural Deafness - Ataxia - Intellectual Disability - Electrolyte Imbalance 20
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation and Electrolyte Imbalance 12
Seizures-Sensorineural Deafness-Ataxia-Mental Retardation-Electrolyte Imbalance 36
Epilepsy-Ataxia-Sensorineural Hearing Loss-Tubulopathy Syndrome 58
Epilepsy, Ataxia, Sensorineural Deafness, and Tubulopathy 57
Epilepsy Ataxia Sensorineural Deafness and Tubulopathy 72

Characteristics:

Orphanet epidemiological data:

58
east syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset of seizures in first months of life


HPO:

31
seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare renal diseases
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


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

GARD : 20 SeSAME syndrome is characterized by Sei zures, S ensorineural deafness, A taxia (lack of muscle coordination), intellectual ( M ental) disability, and E lectrolyte imbalance (low levels of potassium and magnesium in the blood, hypokalemia and hypomagnesemia, and metabolic alkalosis ). It may also be known as EAST syndrome ( E pilepsy, A taxia, S ensorineural deafness, and T ubulopathy ( 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 Inwardly Rectifying Channel Subfamily J Member 10), and among its related pathways/superpathways are Transmission across Chemical Synapses and Oxytocin signaling pathway. The drugs Methyltestosterone and Testosterone undecanoate have been mentioned in the context of this disorder. Affiliated tissues include kidney, prostate and bone, and related phenotypes are intellectual disability and ataxia

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

KEGG : 36 Seizures-sensorineural deafness-ataxia-mental retardation-electrolyte imbalance (SESAME) is a channelopathy characterized by seizures, sensorineural deafness, ataxia, intellectual deficit, and electrolyte imbalance. This disease links to autosomal recessive mutations in KCNJ10, which encodes the potassium channel.

UniProtKB/Swiss-Prot : 72 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 : 73 EAST syndrome is a syndrome consisting of epilepsy, ataxia (a movement disorder), sensorineural deafness... more...

More information 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 53)
# Related Disease Score Top Affiliating Genes
1 primary hypomagnesemia 31.3 TRPM6 SLC12A1 KCNJ1 KCNA1
2 hypokalemia 30.3 SLC12A3 SLC12A1 KCNJ10 KCNJ1 CLCNKB BSND
3 gitelman syndrome 28.5 TRPM6 STK39 SLC12A3 SLC12A1 KCNJ16 KCNJ10
4 hypomagnesemia 2, renal 10.9
5 epilepsy 10.4
6 ataxia and polyneuropathy, adult-onset 10.4
7 branchiootic syndrome 1 10.4
8 hereditary ataxia 10.4
9 pendred syndrome/nonsyndromic enlarged vestibular aqueduct 10.4
10 seizure disorder 10.4
11 cerebral palsy 10.3
12 hypomagnesemia 3, renal 10.2 TRPM6 KCNJ16
13 infantile bartter syndrome with sensorineural deafness 10.2 CLCNKB BSND
14 bartter syndrome, type 2, antenatal 10.2 SLC12A1 KCNJ1
15 bartter syndrome, type 1, antenatal 10.1 SLC12A3 SLC12A1 KCNJ1
16 hypomagnesemia 5, renal, with or without ocular involvement 10.1 SLC12A1 KCNJ1 BSND
17 antenatal bartter syndrome 10.1 SLC12A1 KCNJ1 BSND
18 bartter syndrome, type 4a, neonatal, with sensorineural deafness 10.1 KCNJ1 CLCNKB BSND
19 agenesis of the corpus callosum with peripheral neuropathy 10.1 STK39 SLC12A1
20 hypocalcemia, autosomal dominant 1 10.1 TRPM6 CLCNKB BSND
21 vitreoretinal degeneration, snowflake type 10.0 KCNJ13 KCNJ12 KCNJ1
22 alacrima, achalasia, and mental retardation syndrome 10.0
23 familial periodic paralysis 10.0 SLC12A3 KCNJ12
24 mineral metabolism disease 10.0 SLC12A3 SLC12A1 KCNJ1 CLCNKB
25 dent disease 1 10.0 SLC12A1 KCNJ1 CLCNKB BSND
26 andersen cardiodysrhythmic periodic paralysis 10.0 KCNJ4 KCNJ13 KCNJ12
27 nephrocalcinosis 10.0 SLC12A3 SLC12A1 KCNJ1 CLCNKB
28 pseudohypoaldosteronism 10.0 STK39 SLC12A3 SLC12A1 KCNJ1
29 nephrolithiasis 9.9 SLC12A1 KCNJ1 CLCNKB BSND
30 long qt syndrome 9 9.9 KCNJ4 KCNJ12
31 distal arthrogryposis 9.9 STK39 SLC12A3 SLC12A1 KCNJ1
32 autosomal recessive disease 9.9
33 diabetes insipidus, nephrogenic, autosomal 9.9 SLC12A3 SLC12A1 KCNJ1 CLCNKB BSND
34 polyhydramnios 9.9 SLC12A3 SLC12A1 KCNJ1 CLCNKB BSND
35 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.8
36 arthrogryposis, distal, type 3 9.8 STK39 SLC12A3 SLC12A1 KCNJ1 CLCNKB
37 episodic ataxia, type 1 9.8 KCNV2 KCNA1
38 familial atrial fibrillation 9.7 KCNJ4 KCNJ3 KCNJ12 KCNJ10
39 bartter syndrome, type 3 9.7 TRPM6 SLC12A3 SLC12A1 KCNJ1 CLCNKB BSND
40 epilepsy, myoclonic juvenile 9.7 KCNV2 KCNJ3 KCNA1
41 renal tubular transport disease 9.7 STK39 SLC12A3 SLC12A1 KCNJ1 CLCNKB BSND
42 liddle syndrome 1 9.7 STK39 SLC12A3 SLC12A1 KCNJ1 CLCNKB BSND
43 metabolic acidosis 9.7
44 cerebellar hypoplasia 9.7
45 middle east respiratory syndrome 9.7
46 status epilepticus 9.7
47 hypokalemic periodic paralysis, type 1 9.6 SLC12A3 KCNMA1 KCNJ12 KCNJ1
48 long qt syndrome 1 9.5 KCNJ4 KCNJ3 KCNJ16 KCNJ12 KCNA1
49 autosomal dominant nocturnal frontal lobe epilepsy 9.5 KCNV2 KCNMA1 KCNA1
50 heart conduction disease 9.5 KCNJ4 KCNJ3 KCNJ12

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:

58 31 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001251
3 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
4 sensorineural hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000407
5 hypokalemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002900
6 hyperaldosteronism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000859
7 generalized-onset seizure 58 31 hallmark (90%) Very frequent (99-80%) HP:0002197
8 hypomagnesemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002917
9 renal salt wasting 58 31 hallmark (90%) Very frequent (99-80%) HP:0000127
10 increased circulating renin level 58 31 hallmark (90%) Very frequent (99-80%) HP:0000848
11 metabolic alkalosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0200114
12 salt craving 58 31 hallmark (90%) Very frequent (99-80%) HP:0030083
13 renal sodium wasting 58 31 hallmark (90%) Very frequent (99-80%) HP:0012606
14 renal magnesium wasting 58 31 hallmark (90%) Very frequent (99-80%) HP:0005567
15 polydipsia 58 31 frequent (33%) Frequent (79-30%) HP:0001959
16 enuresis 58 31 frequent (33%) Frequent (79-30%) HP:0000805
17 action tremor 58 31 frequent (33%) Frequent (79-30%) HP:0002345
18 absent speech 58 31 occasional (7.5%) Occasional (29-5%) HP:0001344
19 cerebellar atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001272
20 difficulty walking 58 31 occasional (7.5%) Occasional (29-5%) HP:0002355
21 inability to walk 58 31 occasional (7.5%) Occasional (29-5%) HP:0002540
22 peripheral axonal neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003477
23 lower limb muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0007340
24 peripheral hypomyelination 58 31 occasional (7.5%) Occasional (29-5%) HP:0007182
25 short stature 31 occasional (7.5%) HP:0004322
26 chronic axonal neuropathy 31 occasional (7.5%) HP:0007267
27 seizures 58 Very frequent (99-80%)
28 delayed speech and language development 31 HP:0000750
29 dysdiadochokinesis 31 HP:0002075
30 generalized hypotonia 31 HP:0001290
31 intention tremor 31 HP:0002080
32 hypocalciuria 31 HP:0003127
33 hypokalemic metabolic alkalosis 31 HP:0001960
34 renal potassium wasting 31 HP:0000128
35 abnormal urinary electrolyte concentration 58 Very frequent (99-80%)
36 polyuria 31 HP:0000103
37 seizure 31 HP:0001250
38 hypotonia 31 HP:0001252

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
seizures
ataxia
dysdiadochokinesis
cerebellar atrophy
intention tremor
more
Laboratory Abnormalities:
hypokalemia
hypocalciuria
hypomagnesemia
increased plasma renin
increased plasma aldosterone

Metabolic Features:
metabolic alkalosis

Head And Neck Ears:
hearing loss, sensorineural

Cardiovascular Vascular:
no hypertension

Abdomen Gastrointestinal:
polydipsia
salt craving

Genitourinary Bladder:
enuresis
polyuria

Genitourinary Kidneys:
renal sodium wasting
renal potassium wasting

Growth Height:
short stature (in some patients)

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

Clinical features from OMIM®:

612780 (Updated 20-May-2021)

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


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

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.65 BSND KCNA1 KCNJ1 KCNJ12 KCNJ3 KCNJ9
2 renal/urinary system MP:0005367 9.23 BSND CLCNKB KCNJ1 KCNJ10 KCNMA1 SLC12A1

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 109)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methyltestosterone Approved Phase 4 58-18-4 6010
2
Testosterone undecanoate Approved, Investigational Phase 4 5949-44-0
3
Testosterone enanthate Approved Phase 4 315-37-7 9416
4
Testosterone Approved, Investigational Phase 4 58-22-0 6013
5 Strawberry Approved Phase 4
6 Hormones Phase 4
7 Hormone Antagonists Phase 4
8 Antineoplastic Agents, Hormonal Phase 4
9 Anabolic Agents Phase 4
10 Testosterone 17 beta-cypionate Phase 4
11 Androgens Phase 4
12 Epidiolex Phase 4
13 Pharmaceutical Solutions Phase 4
14 Anticonvulsants Phase 4
15
tannic acid Approved Phase 3 1401-55-4
16
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
17
Ethanol Approved Phase 3 64-17-5 702
18
Beta carotene Approved, Nutraceutical Phase 3 7235-40-7 5280489
19 Analgesics, Opioid Phase 2, Phase 3
20 Carotenoids Phase 3
21
Hyaluronic acid Approved, Vet_approved Phase 1, Phase 2 9004-61-9 53477741
22
Dronabinol Approved, Illicit Phase 2 1972-08-3 16078
23
Valproic acid Approved, Investigational Phase 2 99-66-1 3121
24
Stiripentol Approved Phase 2 49763-96-4
25
Clobazam Approved, Illicit Phase 2 22316-47-8 2789
26
Hydroxocobalamin Approved Phase 2 13422-51-0 11953898 15589840
27
Methylcobalamin Approved, Investigational Phase 2 13422-55-4
28
Dutasteride Approved, Investigational Phase 1, Phase 2 164656-23-9 152945 6918296
29
Diltiazem Approved, Investigational Phase 2 42399-41-7 39186
30
Iron Approved Phase 2 7439-89-6 23925 29936
31
Sorbitol Approved Phase 2 50-70-4 5780
32
Titanium dioxide Approved Phase 2 13463-67-7
33
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
34
Fluphenazine Approved Phase 2 69-23-8 3372
35
Benzyl alcohol Approved Phase 2 100-51-6 244
36
Cyanocobalamin Approved, Nutraceutical Phase 2 68-19-9 44176380
37
2-Phenylethanol Experimental Phase 2 60-12-8 6054
38
Cobalamin Experimental Phase 2 13408-78-1 6857388
39 Skullcap Phase 1, Phase 2
40 Analgesics Phase 2
41 Anti-Infective Agents Phase 2
42 Gamma-sitosterol Phase 1, Phase 2
43 Propolis Phase 1, Phase 2
44 Phytosterol Phase 1, Phase 2
45 Bee Products Phase 1, Phase 2
46 Viscosupplements Phase 1, Phase 2
47 Adjuvants, Immunologic Phase 1, Phase 2
48 Immunologic Factors Phase 1, Phase 2
49 Antirheumatic Agents Phase 2
50 Hallucinogens Phase 2

Interventional clinical trials:

(show top 50) (show all 61)
# Name Status NCT ID Phase Drugs
1 Physiological and Psychological Effects of Testosterone During Severe Energy Deficit and Recovery: a Randomized, Placebo Controlled Trial Completed NCT02734238 Phase 4 Sesame Oil;testosterone enanthate
2 A Randomized, Double-blind, Placebo Controlled Trial of Testosterone Undecanoate for Optimizing Physical and Cognitive Performance During Military Operations (OPS II) Recruiting NCT04120363 Phase 4 Testosterone Undecanoate;Sesame Oil
3 Effects of Cannabidiol (CBD) Oral Solution in Patients Undergoing Bilateral Total Knee Arthroplasty: a Randomized, Controlled, Parallel, Triple Blind, Pilot Study Not yet recruiting NCT04749628 Phase 4 cannabidiol
4 Cannabidiol for Treatment Resistant Depression Not yet recruiting NCT04732169 Phase 4 Active study drug ( oral CBD);matching placebo
5 A Double-blind, Randomized, Placebo-controlled Study to Investigate the Efficacy and Safety of Cannabidiol (GWP42003-P, CBD) as Add-on Therapy in Patients With Tuberous Sclerosis Complex Who Experience Inadequately-controlled Seizures Completed NCT02544763 Phase 3 GWP42003-P;Placebo
6 A Randomized, Double-blind, Placebo-controlled 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
7 A Randomized, Double-blind, Placebo-controlled 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
8 A Double Blind, Placebo Controlled Two-part Study to Investigate the Dose-ranging Safety and Pharmacokinetics, Followed by the Efficacy and Safety of Cannabidiol (GWP42003-P) in Children and Young Adults With Dravet Syndrome Completed NCT02091375 Phase 3 GWP42003-P 20 mg/kg/day Dose;Placebo control
9 Evaluation of an Intervention to Promote Healthy Heart Habits in Pre-School Children Completed NCT01551355 Phase 3
10 A Preliminary Trial of Testosterone Replacement for Fatigue in Male Hypogonadic Patients With Advanced Cancer. Completed NCT00965341 Phase 3 Testosterone;Placebo
11 A Randomized, Double-blind, Placebo-controlled Trial to Investigate the Efficacy and Safety of Cannabidiol (CBD; GWP42003-P) in Infants With Infantile Spasms Following an Initial Open-label Pilot Study Completed NCT02953548 Phase 3 GWP42003-P
12 A Randomized, Double-blind, Placebo-controlled Trial to Investigate the Efficacy and Safety of Cannabidiol (CBD; GWP42003-P) in Infants With Infantile Spasms Following an Initial Open-label Pilot Study Completed NCT02954887 Phase 3 GWP42003-P
13 Rose Geranium in Sesame Oil Nasal Spray as an Agent to Improve Symptoms of Nasal Vestibulitis: A Phase III Double Blinded Randomized Controlled Trial Recruiting NCT04620369 Phase 3 Placebo Administration;Rose Geranium in Sesame Oil Nasal Spray
14 An Open-label, Randomized Trial to Assess the Safety, Pharmacokinetics, and Exploratory Efficacy of Adjunctive Cannabidiol Oral Solution (GWP42003-P) Compared With Standard of Care Antiepileptic Therapy, in Patients Age 1 Month to Less Than 12 Months of Age With Tuberous Sclerosis Complex Who Experience Inadequately-controlled Seizures Recruiting NCT04485104 Phase 3 GWP42003-P;Standard of care
15 An Open-label Extension Trial to Investigate the Long-term Safety of Cannabidiol Oral Solution (GWP42003-P, CBD-OS) in Patients With Rett Syndrome Enrolling by invitation NCT04252586 Phase 3 GWP42003-P
16 A Double-blind, Randomized, Placebo-controlled Study to Investigate the Efficacy and Safety of Cannabidiol (GWP42003-P, CBD) as Add-on Therapy in Patients With Tuberous Sclerosis Complex Who Experience Inadequately-controlled Seizures Enrolling by invitation NCT02544750 Phase 3 GWP42003-P
17 Efficacy of Preoperative Injection of Naldebain® in Management of Acute and Chronic Pain After Laparoscopic Cholecystectomy Not yet recruiting NCT04808544 Phase 2, Phase 3 Dinalbuphine sebacate;Placebo solution
18 Efficacy of Preoperative Injection of Naldebain® in Management of Acute and Chronic Pain After Laparoscopic Bariatric Surgery Not yet recruiting NCT04651361 Phase 2, Phase 3 Dinalbuphine sebacate;Placebo solution
19 A Randomized, Double-blind, Placebo-controlled Trial to Investigate the Efficacy and Safety of Cannabidiol Oral Solution (GWP42003-P, CBD-OS) in Patients With Rett Syndrome Terminated NCT03848832 Phase 3 GWP42003-P;Placebo
20 Clinical Comparison of MEBO Ointment and Hyaluronic Acid Gel in the Management of Pain After Free Gingival Graft Harvesting: A Randomized Clinical Trial Unknown status NCT03728244 Phase 1, Phase 2 MEBO ointment;Hyaluronic Acid gel
21 A Randomized Double Blind Placebo Controlled Proof of Concept Study to Evaluate Safety, Tolerability and Efficacy of Daily Oral THX-110 in Treating Adults With Tourette Syndrome ("Entourage") Unknown status NCT03651726 Phase 2 THX-110 (dronabinol plus PEA);Placebo
22 A Double Blind, Placebo-controlled, Two-part Study to Investigate the Dose-ranging Safety and Pharmacokinetics, Followed by the Efficacy and Safety of Cannabidiol (GWP42003-P) in Children and Young Adults With Dravet Syndrome 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
23 A Phase 2, Double-blind, Randomized, Placebo-controlled Pharmacokinetic Trial in 2 Parallel Groups to Investigate Possible Drug-drug Interactions Between Stiripentol or Valproate and GWP42003-P in Patients With Epilepsy Completed NCT02607891 Phase 2 GWP42003-P;Placebo
24 A Phase 2, Double-blind, Randomized, Placebo-controlled Study to Investigate Possible Drug-drug Interactions Between Clobazam and Cannabidiol (GWP42003-P) Completed NCT02565108 Phase 2 GWP42003-P 20 mg/kg/Day Dose;Placebo;Clobazam
25 A Double-blind, Randomised, Placebo-controlled, Parallel Group Study of GWP42003 as Adjunctive Therapy in the First Line Treatment of Schizophrenia or Related Psychotic Disorder Completed NCT02006628 Phase 2 Placebo;GWP42003
26 A Phase 2, Double-blind, Randomized, Placebo-controlled Study to Investigate Possible Drug-drug Interactions Between Clobazam and Cannabidiol (GWP42003-P) Completed NCT02564952 Phase 2 GWP42003-P;Clobazam
27 A Randomized, Double Blind, Placebo-controlled Crossover Study of Tolerability and Efficacy of Cannabidiol (CBD) on Tremor in Parkinson's Disease Completed NCT02818777 Phase 2 cannabidiol
28 A Phase 2, Double-blind, Randomized, Placebo-controlled Pharmacokinetic Trial in 2 Parallel Groups to Investigate Possible Drug-drug Interactions Between Stiripentol or Valproate and GWP42003-P in Patients With Epilepsy Completed NCT02607904 Phase 2 GWP42003-P
29 A Randomized Phase II Study Comparing Bipolar Androgen Therapy vs. Enzalutamide in Asymptomatic Men With Castration Resistant Metastatic Prostate Cancer Completed NCT02286921 Phase 2 Testosterone cypionate;Enzalutamide;Testosterone Enanthate
30 Phase 2, Double-Blind, Placebo Controlled Clinical Trial of EPI-743 in Subjects With Cobalamin C Defect Completed NCT01793090 Phase 2 Epi-743
31 Oral Androgens in Man-4: Gonadotropin Suppression Medicated by Oral Testosterone Enanthate in Oil Plus Dutasteride (Short Title: Oral T-4) Completed NCT00399165 Phase 1, Phase 2 Testosterone Enanthate;Testosterone Enanthate;Dutasteride;Dutasteride
32 A Randomized, Double-blind, Parallel-group Trial to Investigate the Safety and Efficacy of GWP42003-P Versus Placebo as Adjunctive Therapy in Participants With Schizophrenia Experiencing Inadequate Response to Ongoing Antipsychotic Treatment Recruiting NCT04421456 Phase 2 GWP42003-P;Placebo
33 Comparative Evaluation of MEBO Ointment and Topical Diltiazem Ointment in the Treatment of Acute Anal Fissure: a Randomized Clinical Trial Recruiting NCT04153032 Phase 2 Diltiazem;Mebo
34 A Phase II Study to Determine Sequential Response to Bipolar Androgen Therapy (BAT) Followed by Enzalutamide or Abiraterone Post-BAT in Men With Prostate Cancer Progressing on Combined Androgen Ablative Therapies Recruiting NCT02090114 Phase 2 Testosterone cypionate;Testosterone Enanthate;Abiraterone acetate (Cohort B = CLOSED TO ACCRUAL);Enzalutamide (Cohort A = CLOSED TO ACCRUAL)
35 A Randomized Phase II Study Comparing Sequential High Dose Testosterone and Enzalutamide to Enzalutamide Alone in Asymptomatic Men With Castration Resistant Metastatic Prostate Cancer Recruiting NCT04363164 Phase 2 Testosterone cypionate;Enzalutamide;Testosterone enanthate
36 An Exploratory, Phase 2, Randomized, Double-blind, Placebo-controlled Trial to Investigate the Safety and Efficacy of Cannabidiol Oral Solution (GWP42003-P; CBD-OS) in Children and Adolescents With Autism Spectrum Disorder Not yet recruiting NCT04745026 Phase 2 GWP42003-P;Placebo
37 Safety and Tolerability of GWP42006 in Children and Young Adults With Autism Spectrum Disorder Terminated NCT03849456 Phase 2 GWP42006
38 Ascending-Dose, Double-Blind, Placebo-Controlled, Bilateral Study of Intralesional Fluphenazine Decanoate in Psoriasis Terminated NCT00356200 Phase 2 Fluphenazine Decanoate;Placebo
39 Randomized Single-center, Single-blind, Two-arm Parallel Group Trial of Using MEBO™ Dressing Versus Standard Care at Zagazig University Hospital in the Management of Donor and Recipient Sites of Split-thickness Skin Graft Unknown status NCT02737943 Phase 1 Moist Exposed Burn Ointment (MEBO);Zagazig
40 The Effects of Four Commonly Consumed Seeds (Flax, Poppy, Sesame & Salba) on Postprandial Blood Glucose Response, Vascular, Appetite and Sensory Parameters in Healthy Individuals Completed NCT01579656 Phase 1
41 University of Alabama at Birmingham (UAB) Adult CBD Program Completed NCT02700412 Phase 1 Epidiolex
42 Pilot Study of the Effect of Peanut Consumption on Postprandial Inflammatory Status, Glucose and Triglycerides Completed NCT01173042 Phase 1
43 A Randomised, Double-Blind, Placebo-Controlled, Dose Escalation, Safety, Tolerability and Pharmacokinetics Study of Single Ascending and Multiple Doses of GWP42006 in Healthy Volunteers Completed NCT01918735 Phase 1 Placebo;GWP42006
44 The Effects of Cyclic Testosterone Administration on Muscle Function in Older Individuals Completed NCT00957528 Phase 1 Testosterone;Placebo
45 University of Alabama at Birmingham (UAB) Pediatric CBD Program Completed NCT02695537 Phase 1 Epidiolex
46 Efficacy of Epidiolex in Patients With Electrical Status Epilepticus of Sleep (ESES). Recruiting NCT04721691 Phase 1 Epidiolex 100 mg/mL Oral Solution
47 The Efficacy of Topical Sesame Oil in Orabase Versus Topical Triamcinolone in Orabase on Oral Lichen Planus and Salivary Level of Oxidative Stress Biomarker, Malondialdehyde [MDA] : Randomized Clinical Trial (RCT) Unknown status NCT03738176 Early Phase 1 Sesame Oil;triamcinolone in orabase
48 SElf-SAMpling in Cervical Cancer Screening. SESAM Study; a Key to Better Health. Clinical Validation of a Self-sampling Device in Patients With Cervical Cancer and Cervical Pre-invasive Neoplasia Unknown status NCT02945891
49 Effects of Early Introduction of Allergenic Foods Followed by Ad-libitum Consumption, on Food Allergic Sensitisation, Allergy and Measures of Child Health at 8 Years of Age in Exclusively Breastfed Infants Unknown status NCT03495583
50 Bioequivalence Assessment of Cannabidiol (CBD) Administrated in Oral Formulations Unknown status NCT03877991 Early Phase 1 CBD-sesame oil capsule;CBD-LNL capsule;CBD powder form capsule

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 East 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:

40
Kidney, Prostate, Bone, Heart, Skin

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

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

(show all 26)
# Title Authors PMID Year
1
Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10. 61 6 57
19289823 2009
2
KCNJ10 mutations disrupt function in patients with EAST syndrome. 6 57
21849804 2011
3
Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations. 6 57
19420365 2009
4
Novel mutations in the KCNJ10 gene associated to a distinctive ataxia, sensorineural hearing loss and spasticity clinical phenotype. 61 6
32062759 2020
5
Molecular mechanisms of EAST/SeSAME syndrome mutations in Kir4.1 (KCNJ10). 61 6
20807765 2010
6
Variable loss of Kir4.1 channel function in SeSAME syndrome mutations. 61 6
20678478 2010
7
Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome. 6
23924083 2013
8
Molecular basis of decreased Kir4.1 function in SeSAME/EAST syndrome. 6
21088294 2010
9
KCNJ10 gene mutations causing EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy) disrupt channel function. 6
20651251 2010
10
Time course of inner ear degeneration and deafness in mice lacking the Kir4.1 potassium channel subunit. 57
12618319 2003
11
Kir4.1 potassium channel subunit is crucial for oligodendrocyte development and in vivo myelination. 57
11466414 2001
12
Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness. 61
33811157 2021
13
Mechanisms coupling sodium and magnesium reabsorption in the distal convoluted tubule of the kidney. 61
32603001 2021
14
Collecting system-specific deletion of Kcnj10 predisposes for thiazide- and low-potassium diet-induced hypokalemia. 61
32299681 2020
15
Identification and functional characterization of two novel mutations in KCNJ10 and PI4KB in SeSAME syndrome without electrolyte imbalance. 61
31640787 2019
16
EAST/SeSAME syndrome: Review of the literature and introduction of four new Latvian patients. 61
29722015 2019
17
[The function and regulation of basolateral Kir4.1 and Kir4.1/Kir5.1 in renal tubules]. 61
30560268 2018
18
Discovery, Characterization, and Effects on Renal Fluid and Electrolyte Excretion of the Kir4.1 Potassium Channel Pore Blocker, VU0134992. 61
29895592 2018
19
MeCP2 Deficiency Leads to Loss of Glial Kir4.1. 61
29464197 2018
20
Role and mechanisms of regulation of the basolateral Kir 4.1/Kir 5.1K+ channels in the distal tubules. 61
27129733 2017
21
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. 61
26319417 2015
22
[EAST/SeSAME syndrome and functional expression of inward rectifier potassium channel Kir4.1 in the inner ear]. 61
26672256 2015
23
Mislocalization of K+ channels causes the renal salt wasting in EAST/SeSAME syndrome. 61
24561201 2014
24
SeSAME/EAST syndrome--phenotypic variability and delayed activity of the distal convoluted tubule. 61
22907601 2012
25
Renal phenotype in mice lacking the Kir5.1 (Kcnj16) K+ channel subunit contrasts with that observed in SeSAME/EAST syndrome. 61
21633011 2011
26
New molecular players facilitating Mg(2+) reabsorption in the distal convoluted tubule. 61
19812536 2010

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

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

6 (show top 50) (show all 208)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KCNJ10 NM_002241.5(KCNJ10):c.194G>C (p.Arg65Pro) SNV Pathogenic 7462 rs137853066 GRCh37: 1:160012129-160012129
GRCh38: 1:160042339-160042339
2 KCNJ10 NM_002241.5(KCNJ10):c.595C>T (p.Arg199Ter) SNV Pathogenic 7463 rs137853067 GRCh37: 1:160011728-160011728
GRCh38: 1:160041938-160041938
3 KCNJ10 NM_002241.5(KCNJ10):c.418T>C (p.Cys140Arg) SNV Pathogenic 7464 rs137853068 GRCh37: 1:160011905-160011905
GRCh38: 1:160042115-160042115
4 KCNJ10 NM_002241.5(KCNJ10):c.491C>T (p.Thr164Ile) SNV Pathogenic 7465 rs137853069 GRCh37: 1:160011832-160011832
GRCh38: 1:160042042-160042042
5 KCNJ10 NM_002241.5(KCNJ10):c.500C>T (p.Ala167Val) SNV Pathogenic 7466 rs137853070 GRCh37: 1:160011823-160011823
GRCh38: 1:160042033-160042033
6 KCNJ10 NM_002241.5(KCNJ10):c.889C>T (p.Arg297Cys) SNV Pathogenic 7467 rs137853071 GRCh37: 1:160011434-160011434
GRCh38: 1:160041644-160041644
7 KCNJ10 NM_002241.5(KCNJ10):c.229G>C (p.Gly77Arg) SNV Pathogenic 7468 rs137853072 GRCh37: 1:160012094-160012094
GRCh38: 1:160042304-160042304
8 KCNJ10 NM_002241.5(KCNJ10):c.193C>T (p.Arg65Cys) SNV Pathogenic 30251 rs387906834 GRCh37: 1:160012130-160012130
GRCh38: 1:160042340-160042340
9 KCNJ10 NM_002241.5(KCNJ10):c.225T>G (p.Phe75Leu) SNV Pathogenic 30252 rs757159382 GRCh37: 1:160012098-160012098
GRCh38: 1:160042308-160042308
10 KCNJ10 NM_002241.5(KCNJ10):c.775del (p.Val258_Val259insTer) Deletion Pathogenic 30253 rs1557967748 GRCh37: 1:160011548-160011548
GRCh38: 1:160041758-160041758
11 KCNJ10 NM_002241.5(KCNJ10):c.321_322del (p.Val109fs) Deletion Pathogenic 841424 GRCh37: 1:160012001-160012002
GRCh38: 1:160042211-160042212
12 KCNJ10 NM_002241.5(KCNJ10):c.76C>T (p.Arg26Ter) SNV Pathogenic/Likely pathogenic 211218 rs138943405 GRCh37: 1:160012247-160012247
GRCh38: 1:160042457-160042457
13 KCNJ10 NM_002241.5(KCNJ10):c.512G>A (p.Arg171Gln) SNV Likely pathogenic 656970 rs200320916 GRCh37: 1:160011811-160011811
GRCh38: 1:160042021-160042021
14 KCNJ10 NM_002241.5(KCNJ10):c.615A>G (p.Lys205=) SNV Conflicting interpretations of pathogenicity 287539 rs142228240 GRCh37: 1:160011708-160011708
GRCh38: 1:160041918-160041918
15 KCNJ10 NM_002241.5(KCNJ10):c.530A>G (p.Glu177Gly) SNV Conflicting interpretations of pathogenicity 195165 rs145947380 GRCh37: 1:160011793-160011793
GRCh38: 1:160042003-160042003
16 KCNJ10 NM_002241.5(KCNJ10):c.219G>A (p.Ala73=) SNV Conflicting interpretations of pathogenicity 378001 rs144495959 GRCh37: 1:160012104-160012104
GRCh38: 1:160042314-160042314
17 KCNJ10 NM_002241.5(KCNJ10):c.53G>A (p.Arg18Gln) SNV Conflicting interpretations of pathogenicity 129316 rs115466046 GRCh37: 1:160012270-160012270
GRCh38: 1:160042480-160042480
18 KCNJ10 NM_002241.5(KCNJ10):c.136G>A (p.Asp46Asn) SNV Conflicting interpretations of pathogenicity 239110 rs141553756 GRCh37: 1:160012187-160012187
GRCh38: 1:160042397-160042397
19 KCNJ10 NM_002241.5(KCNJ10):c.1012T>G (p.Ser338Ala) SNV Uncertain significance 845861 GRCh37: 1:160011311-160011311
GRCh38: 1:160041521-160041521
20 KCNJ10 NM_002241.5(KCNJ10):c.*3458G>A SNV Uncertain significance 875236 GRCh37: 1:160007725-160007725
GRCh38: 1:160037935-160037935
21 KCNJ10 NM_002241.5(KCNJ10):c.*2624G>A SNV Uncertain significance 874370 GRCh37: 1:160008559-160008559
GRCh38: 1:160038769-160038769
22 KCNJ10 NM_002241.5(KCNJ10):c.*2754G>C SNV Uncertain significance 874369 GRCh37: 1:160008429-160008429
GRCh38: 1:160038639-160038639
23 KCNJ10 NM_002241.5(KCNJ10):c.*2896T>C SNV Uncertain significance 876336 GRCh37: 1:160008287-160008287
GRCh38: 1:160038497-160038497
24 KCNJ10 NM_002241.5(KCNJ10):c.*3130C>A SNV Uncertain significance 876201 GRCh37: 1:160008053-160008053
GRCh38: 1:160038263-160038263
25 KCNJ10 NM_002241.5(KCNJ10):c.*3158C>T SNV Uncertain significance 876200 GRCh37: 1:160008025-160008025
GRCh38: 1:160038235-160038235
26 KCNJ10 NM_002241.5(KCNJ10):c.1047C>T (p.Tyr349=) SNV Uncertain significance 875494 GRCh37: 1:160011276-160011276
GRCh38: 1:160041486-160041486
27 KCNJ10 NM_002241.5(KCNJ10):c.*2516C>T SNV Uncertain significance 875291 GRCh37: 1:160008667-160008667
GRCh38: 1:160038877-160038877
28 KCNJ10 NM_002241.5(KCNJ10):c.*2554G>A SNV Uncertain significance 875290 GRCh37: 1:160008629-160008629
GRCh38: 1:160038839-160038839
29 KCNJ10 NM_002241.5(KCNJ10):c.511C>T (p.Arg171Trp) SNV Uncertain significance 537736 rs769666695 GRCh37: 1:160011812-160011812
GRCh38: 1:160042022-160042022
30 KCNJ10 NM_002241.5(KCNJ10):c.301C>A (p.Pro101Thr) SNV Uncertain significance 205827 rs375361490 GRCh37: 1:160012022-160012022
GRCh38: 1:160042232-160042232
31 KCNJ10 NM_002241.5(KCNJ10):c.*2479G>A SNV Uncertain significance 293086 rs142986779 GRCh37: 1:160008704-160008704
GRCh38: 1:160038914-160038914
32 KCNJ10 NM_002241.5(KCNJ10):c.*1970_*1971GT[28] Microsatellite Uncertain significance 293093 rs56656397 GRCh37: 1:160009163-160009164
GRCh38: 1:160039373-160039374
33 KCNJ10 NM_002241.5(KCNJ10):c.*2675_*2676del Deletion Uncertain significance 293080 rs886045398 GRCh37: 1:160008507-160008508
GRCh38: 1:160038717-160038718
34 KCNJ10 NM_002241.5(KCNJ10):c.*2827C>T SNV Uncertain significance 293079 rs183270733 GRCh37: 1:160008356-160008356
GRCh38: 1:160038566-160038566
35 KCNJ10 NM_002241.5(KCNJ10):c.*3770C>T SNV Uncertain significance 293070 rs886045394 GRCh37: 1:160007413-160007413
GRCh38: 1:160037623-160037623
36 KCNJ10 NM_002241.5(KCNJ10):c.769C>G (p.His257Asp) SNV Uncertain significance 1035800 GRCh37: 1:160011554-160011554
GRCh38: 1:160041764-160041764
37 KCNJ10 NM_002241.5(KCNJ10):c.278A>G (p.His93Arg) SNV Uncertain significance 1028010 GRCh37: 1:160012045-160012045
GRCh38: 1:160042255-160042255
38 KCNJ10 NM_002241.5(KCNJ10):c.1A>G (p.Met1Val) SNV Uncertain significance 1025196 GRCh37: 1:160012322-160012322
GRCh38: 1:160042532-160042532
39 KCNJ10 NM_002241.5(KCNJ10):c.506T>C (p.Ile169Thr) SNV Uncertain significance 976160 GRCh37: 1:160011817-160011817
GRCh38: 1:160042027-160042027
40 KCNJ10 NM_002241.5(KCNJ10):c.217G>A (p.Ala73Thr) SNV Uncertain significance 961034 GRCh37: 1:160012106-160012106
GRCh38: 1:160042316-160042316
41 KCNJ10 NM_002241.5(KCNJ10):c.1049G>C (p.Gly350Ala) SNV Uncertain significance 954341 GRCh37: 1:160011274-160011274
GRCh38: 1:160041484-160041484
42 KCNJ10 NM_002241.5(KCNJ10):c.*3737A>G SNV Uncertain significance 874309 GRCh37: 1:160007446-160007446
GRCh38: 1:160037656-160037656
43 KCNJ10 NM_002241.5(KCNJ10):c.*2034C>T SNV Uncertain significance 874420 GRCh37: 1:160009149-160009149
GRCh38: 1:160039359-160039359
44 KCNJ10 NM_002241.5(KCNJ10):c.*2001T>C SNV Uncertain significance 874421 GRCh37: 1:160009182-160009182
GRCh38: 1:160039392-160039392
45 KCNJ10 NM_002241.5(KCNJ10):c.*1258G>A SNV Uncertain significance 874464 GRCh37: 1:160009925-160009925
GRCh38: 1:160040135-160040135
46 KCNJ10 NM_002241.5(KCNJ10):c.*1048A>T SNV Uncertain significance 874465 GRCh37: 1:160010135-160010135
GRCh38: 1:160040345-160040345
47 KCNJ10 NM_002241.5(KCNJ10):c.*868C>T SNV Uncertain significance 874515 GRCh37: 1:160010315-160010315
GRCh38: 1:160040525-160040525
48 KCNJ10 NM_002241.5(KCNJ10):c.*347C>T SNV Uncertain significance 876467 GRCh37: 1:160010836-160010836
GRCh38: 1:160041046-160041046
49 KCNJ10 NM_002241.5(KCNJ10):c.143G>C (p.Arg48Pro) SNV Uncertain significance 665846 rs201907875 GRCh37: 1:160012180-160012180
GRCh38: 1:160042390-160042390
50 KCNJ10 NM_002241.5(KCNJ10):c.783G>C (p.Glu261Asp) SNV Uncertain significance 659085 rs372204106 GRCh37: 1:160011540-160011540
GRCh38: 1:160041750-160041750

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

72
# 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

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
12.87 KCNV2 KCNMA1 KCNJ9 KCNJ4 KCNJ3 KCNJ16
2
Show member pathways
12.26 KCNMA1 KCNJ9 KCNJ4 KCNJ3 KCNJ12
3
Show member pathways
12.17 KCNMA1 KCNJ16 KCNJ10 KCNJ1
4
Show member pathways
11.98 KCNJ9 KCNJ4 KCNJ3 KCNJ16 KCNJ12 KCNJ10
5 11.97 KCNJ9 KCNJ4 KCNJ3 KCNJ16 KCNJ13 KCNJ12
6
Show member pathways
11.86 KCNJ9 KCNJ4 KCNJ3 KCNJ16 KCNJ12 KCNJ10
7
Show member pathways
11.49 KCNV2 KCNMA1 KCNJ9 KCNJ4 KCNJ3 KCNJ16
8 11.1 STK39 SLC12A3 SLC12A1 KCNJ1 CLCNKB BSND

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 membrane GO:0016020 10.21 TRPM6 STK39 SLC12A3 SLC12A1 OR10T2 KCNV2
2 integral component of membrane GO:0016021 10.09 TRPM6 SLC12A3 SLC12A1 OR10T2 KCNV2 KCNMA1
3 plasma membrane GO:0005886 9.89 TRPM6 SLC12A3 SLC12A1 OR10T2 KCNV2 KCNMA1
4 integral component of plasma membrane GO:0005887 9.88 TRPM6 SLC12A3 KCNJ10 KCNA1 CLCNKB BSND
5 apical plasma membrane GO:0016324 9.8 TRPM6 STK39 SLC12A3 SLC12A1 KCNMA1 KCNA1
6 basolateral plasma membrane GO:0016323 9.77 STK39 KCNJ4 KCNJ16 KCNJ10 BSND
7 voltage-gated potassium channel complex GO:0008076 9.17 KCNV2 KCNMA1 KCNJ4 KCNJ3 KCNJ16 KCNJ1

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 potassium ion transmembrane transport GO:0071805 10.02 KCNV2 KCNMA1 KCNJ4 KCNJ3 KCNJ16 KCNJ13
2 potassium ion import across plasma membrane GO:1990573 10.02 SLC12A3 SLC12A1 KCNJ9 KCNJ4 KCNJ3 KCNJ16
3 ion transmembrane transport GO:0034220 10 TRPM6 SLC12A1 KCNMA1 KCNJ4 KCNJ3 KCNJ16
4 transmembrane transport GO:0055085 9.95 TRPM6 SLC12A3 SLC12A1 KCNV2 KCNMA1 KCNA1
5 regulation of ion transmembrane transport GO:0034765 9.93 KCNV2 KCNMA1 KCNJ9 KCNJ4 KCNJ3 KCNJ16
6 chloride transmembrane transport GO:1902476 9.76 SLC12A3 SLC12A1 CLCNKB BSND
7 potassium ion transport GO:0006813 9.73 SLC12A1 KCNV2 KCNMA1 KCNJ9 KCNJ4 KCNJ3
8 regulation of membrane potential GO:0042391 9.67 KCNMA1 KCNJ10 KCNA1
9 potassium ion homeostasis GO:0055075 9.61 SLC12A3 SLC12A1 KCNJ10
10 excretion GO:0007588 9.54 KCNJ1 CLCNKB
11 cell volume homeostasis GO:0006884 9.52 SLC12A3 SLC12A1
12 sodium ion homeostasis GO:0055078 9.51 SLC12A3 SLC12A1
13 ion transport GO:0006811 9.5 TRPM6 SLC12A3 SLC12A1 KCNV2 KCNMA1 KCNJ9
14 chloride ion homeostasis GO:0055064 9.48 SLC12A3 SLC12A1

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 9.67 TRPM6 KCNV2 KCNMA1 KCNA1
2 voltage-gated potassium channel activity GO:0005249 9.61 KCNV2 KCNMA1 KCNA1
3 inward rectifier potassium channel activity GO:0005242 9.56 KCNJ9 KCNJ4 KCNJ3 KCNJ16 KCNJ13 KCNJ12
4 potassium:chloride symporter activity GO:0015379 9.48 SLC12A3 SLC12A1
5 cation:chloride symporter activity GO:0015377 9.46 SLC12A3 SLC12A1
6 potassium channel activity GO:0005267 9.46 KCNV2 KCNMA1 KCNJ10 KCNA1
7 ATP-activated inward rectifier potassium channel activity GO:0015272 9.4 KCNJ10 KCNJ1
8 voltage-gated ion channel activity GO:0005244 9.4 KCNV2 KCNMA1 KCNJ9 KCNJ4 KCNJ3 KCNJ16
9 G-protein activated inward rectifier potassium channel activity GO:0015467 9.32 KCNJ9 KCNJ3
10 sodium:potassium:chloride symporter activity GO:0008511 9.26 SLC12A3 SLC12A1

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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