Aliases & Classifications for West Syndrome

MalaCards integrated aliases for West Syndrome:

Name: West Syndrome 38 12 72 49 50 55 36 28 14 69
X-Linked Infantile Spasm Syndrome 49 69
Infantile Spasm 49 69
Tonic Spasms with Clustering, Arrest of Psychomotor Development and Hypsarrhythmia on Eeg 49
Intellectual Disability-Hypsarrhythmia Syndrome 55
Epileptic Encephalopathy, Early Infantile, 1 38
X-Linked Infantile Spasms 49
Infantile Spasms 55
West's Syndrome 49
is 49

Characteristics:

Orphanet epidemiological data:

55
west syndrome
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Prevalence: 1-9/100000 (Europe),1-9/100000 (Worldwide); Age of onset: Childhood,Infancy,Neonatal;

Classifications:

Orphanet: 55  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050562
Orphanet 55 ORPHA3451
UMLS via Orphanet 70 C0037769
ICD10 via Orphanet 33 G40.4
KEGG 36 H01460

Summaries for West Syndrome

NIH Rare Diseases : 49 West syndromeis characterized by a specific type of seizure (infantile spasms) seen in infancy and childhood. This syndrome leads to developmental regression and causes a specific pattern, known as hypsarrhythmia (chaotic brain waves), on electroencephalography (EEG) testing. The infantile spasms usually begin in the first year of life, typically between 4-8 months. The seizures primarily consist of a sudden bending forward of the body with stiffening of the arms and legs; some children arch their backs as they extend their arms and legs. Spasms tend to occur upon awakening or after feeding, and often occur in clusters of up to 100 spasms at a time. Infants may have dozens of clusters and several hundred spasms per day. Infantile spasms usually stop by age five, but may be replaced by other types of seizures. Many disorders leading to brain injury, such as birth problems, cerebral anomalies, metabolic disorders, and genetic disorders can lead to these spasms, making it important to identify the underlying cause. In some children, no cause can be found. The goals of treatment are to reduce or eliminate seizures, and include several medications, such as corticoids, avigabatrin, and antiepileptic drugs. Some children have spasms as the result of brain lesions, and surgical removal of these lesions may result in improvement. Last updated: 6/9/2017

MalaCards based summary : West Syndrome, also known as x-linked infantile spasm syndrome, is related to infantile epileptic encephalopathy and epileptic encephalopathy, early infantile, 1, and has symptoms including myoclonus, developmental regression and hypsarrhythmia. An important gene associated with West Syndrome is ARX (Aristaless Related Homeobox), and among its related pathways/superpathways are Glycosphingolipid biosynthesis - lacto and neolacto series and Neuropathic Pain-Signaling in Dorsal Horn Neurons. The drugs Vigabatrin and Anticonvulsants have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and skin, and related phenotypes are behavior/neurological and growth/size/body region

NINDS : 50 An infantile spasm (IS) is a specific type of seizure seen in an epilepsy syndrome of infancy and childhood known as West Syndrome. West Syndrome is characterized by infantile spasms, developmental regression, and a specific pattern on electroencephalography (EEG) testing called hypsarrhythmia (chaotic brain waves). The onset of infantile spasms is usually in the first year of life, typically between 4-8 months. The seizures primarily consist of a sudden bending forward of the body with stiffening of the arms and legs; some children arch their backs as they extend their arms and legs. Spasms tend to occur upon awakening or after feeding, and often occur in clusters of up to 100 spasms at a time. Infants may have dozens of clusters and several hundred spasms per day. Infantile spasms usually stop by age five, but may be replaced by other seizure types. Many underlying disorders, such as birth injury, metabolic disorders, and genetic disorders can give rise to spasms, making it important to identify the underlying cause. In some children, no cause can be found.

Wikipedia : 72 Epileptic spasms, also known as infantile spasms, juvenile spasms, or West syndrome is an... more...

Related Diseases for West Syndrome

Diseases related to West Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 107)
# Related Disease Score Top Affiliating Genes
1 infantile epileptic encephalopathy 33.3 ARX CDKL5 POMC STXBP1 TSC2
2 epileptic encephalopathy, early infantile, 1 32.8 ARX KCNQ2 TBC1D24 WWOX
3 epileptic encephalopathy, early infantile, 15 31.7 ARX CDKL5 KCNQ2 SCN2A SIK1 SPTAN1
4 encephalopathy 30.7 ARX CDKL5 SCN2A STXBP1
5 lennox-gastaut syndrome 29.9 KCNQ2 POMC ST3GAL3 STXBP1 TBC1D24
6 early myoclonic encephalopathy 29.6 ARX CDKL5 SIK1
7 focal epilepsy 29.5 CDKL5 GRIN2B TBC1D24 TSC2
8 autism 29.5 ARX CDKL5 GRIN2B SCN2A TSC2
9 hemolytic anemia, lethal congenital nonspherocytic, with genital and other abnormalities 10.9
10 epileptic encephalopathy, early infantile, 11 10.8
11 epileptic encephalopathy, early infantile, 12 10.8
12 epileptic encephalopathy, early infantile, 13 10.8
13 cdkl5-related disorder 10.8
14 scn2a related disorders 10.8
15 autosomal dominant non-syndromic intellectual disability 10.5 GRIN2B SCN2A STXBP1
16 specific developmental disorder 10.5 ARX CDKL5 POMC
17 malignant migrating partial seizures of infancy 10.5 PLCB1 SCN2A TBC1D24
18 mental retardation, x-linked, syndromic, hedera type 10.5 ARX SCN2A
19 benign familial infantile epilepsy 10.5 KCNQ2 SCN2A SCN8A
20 seizure disorder 10.4 CDKL5 KCNQ2 SCN2A
21 landau-kleffner syndrome 10.4 POMC TBC1D24
22 epilepsy with generalized tonic-clonic seizures 10.4 SCN2A TBC1D24
23 benign familial neonatal epilepsy 10.4 KCNQ2 SCN2A TBC1D24
24 childhood electroclinical syndrome 10.3 KCNQ2 POMC TBC1D24
25 generalized epilepsy with febrile seizures plus 10.3 KCNQ2 SCN2A SCN8A TBC1D24
26 undetermined early-onset epileptic encephalopathy 10.3 NTRK2 SCN8A WWOX
27 benign neonatal seizures 10.3 KCNQ2 SCN2A
28 neonatal period electroclinical syndrome 10.3 ARX KCNQ2 SCN2A STXBP1 TBC1D24
29 epileptic encephalopathy, early infantile, 6 10.2 CDKL5 KCNQ2 SCN2A SCN8A STXBP1 TBC1D24
30 epilepsy, idiopathic generalized 10.2 ABAT ARX CDKL5 KCNQ2 SCN2A TBC1D24
31 infancy electroclinical syndrome 10.1 ARX CDKL5 KCNQ2 POMC SCN2A STXBP1
32 lissencephaly with cerebellar hypoplasia 10.1 ARX TSC2
33 epilepsy 10.0
34 cerebritis 9.9
35 tuberous sclerosis 9.8
36 periventricular leukomalacia 9.7
37 leukomalacia 9.7
38 alacrima, achalasia, and mental retardation syndrome 9.7
39 vitamin b12 deficiency 9.7
40 porencephaly 9.7
41 down syndrome 9.6
42 tuberous sclerosis 1 9.6
43 pyruvate dehydrogenase e1-alpha deficiency 9.6
44 aging 9.6
45 lissencephaly 9.6
46 neuronitis 9.6
47 schinzel giedion syndrome 9.6
48 neonatal hypoxic and ischemic brain injury 9.6
49 sotos syndrome 1 9.4
50 coloboma of macula 9.4

Graphical network of the top 20 diseases related to West Syndrome:



Diseases related to West Syndrome

Symptoms & Phenotypes for West Syndrome

Human phenotypes related to West Syndrome:

55 31 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 myoclonus 55 31 hallmark (90%) Very frequent (99-80%) HP:0001336
2 developmental regression 55 31 hallmark (90%) Very frequent (99-80%) HP:0002376
3 hypsarrhythmia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002521
4 infantile spasms 55 31 hallmark (90%) Very frequent (99-80%) HP:0012469
5 abnormality of skin morphology 55 31 frequent (33%) Frequent (79-30%) HP:0011121
6 abnormality of the nervous system 55 Frequent (79-30%)

UMLS symptoms related to West Syndrome:


seizures

MGI Mouse Phenotypes related to West Syndrome:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.03 PIGA PLCB1 POMC ARX SCN2A CDKL5
2 growth/size/body region MP:0005378 9.93 PIGA WWOX PLCB1 POMC ARX SCN2A
3 mortality/aging MP:0010768 9.77 TSC2 PIGA WWOX PLCB1 POMC ARX
4 nervous system MP:0003631 9.47 WWOX PLCB1 POMC ARX SCN2A CDKL5

Drugs & Therapeutics for West Syndrome

Drugs for West Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 61)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Vigabatrin Approved Phase 4,Phase 3 68506-86-5, 60643-86-9 5665
2 Anticonvulsants Phase 4,Phase 3,Phase 2
3 GABA Agents Phase 4,Phase 3,Phase 2
4 Neurotransmitter Agents Phase 4,Phase 3,Phase 2
5 PK 11195 Phase 4 85532-75-8
6
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
7
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
8
Cosyntropin Approved Phase 3 16960-16-0 16129617
9
Ethanol Approved Phase 3 64-17-5 702
10
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3,Phase 2 59-30-3 6037
11
Pyridoxal Approved, Nutraceutical Phase 3,Phase 2 66-72-8 1050
12
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved Phase 3,Phase 2 65-23-6 1054
13 Strawberry Approved, Nutraceutical Phase 3
14 Antiemetics Phase 3
15 Anti-Inflammatory Agents Phase 3
16 Antineoplastic Agents, Hormonal Phase 3
17 Autonomic Agents Phase 3
18 Gastrointestinal Agents Phase 3
19 glucocorticoids Phase 3
20 Hormone Antagonists Phase 3,Phase 2
21 Hormones Phase 3,Phase 2
22 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2
23 Methylprednisolone acetate Phase 3
24 Methylprednisolone Hemisuccinate Phase 3
25 Micronutrients Phase 3,Phase 2
26 Neuroprotective Agents Phase 3
27 Peripheral Nervous System Agents Phase 3,Phase 2
28 Prednisolone acetate Phase 3
29 Prednisolone hemisuccinate Phase 3
30 Prednisolone phosphate Phase 3
31 Protective Agents Phase 3
32 Trace Elements Phase 3,Phase 2
33 Vitamin B 6 Phase 3,Phase 2
34 Vitamin B Complex Phase 3,Phase 2
35 Vitamins Phase 3,Phase 2
36 Pharmaceutical Solutions Phase 3,Phase 2
37 Calcium, Dietary Phase 2, Phase 3
38 Folate Nutraceutical Phase 3,Phase 2
39 Vitamin B9 Nutraceutical Phase 3,Phase 2
40 Soy Bean Nutraceutical Phase 2, Phase 3
41
Carbamazepine Approved, Investigational Phase 2 298-46-4 2554
42
Nitrazepam Approved Phase 2 146-22-5 4506
43
Valproic Acid Approved, Investigational Phase 2 99-66-1 3121
44 Adrenocorticotropic Hormone Phase 2
45 beta-endorphin Phase 2
46 Melanocyte-Stimulating Hormones Phase 2
47 Anesthetics Phase 2
48 Central Nervous System Depressants Phase 2
49 Pregnanolone Phase 2 128-20-1
50 Analgesics Phase 2

Interventional clinical trials:

(show all 28)

# Name Status NCT ID Phase Drugs
1 Evaluation of Neuroinflammation in Children With Infantile Spasms Completed NCT02092883 Phase 4 ACTH
2 An Open-Label, Single and Multiple Oral Dose Pharmacokinetic Study of Vigabatrin in Infants With Infantile Spasms Withdrawn NCT01413711 Phase 4 Vigabatrin
3 Addition of Pyridoxine to Prednisolone in Infantile Spasms Unknown status NCT01828437 Phase 3 Pyridoxine plus prednisolone;Prednisolone
4 Use of the Modified Atkins Diet in Infantile Spasms Completed NCT01006811 Phase 2, Phase 3
5 Prednisolone in Infantile Spasms- High Dose Versus Usual Dose Completed NCT01575639 Phase 3 Oral prednisolone
6 A Novel Approach to Infantile Spasms Recruiting NCT03347526 Phase 3 Cosyntropin Injectable Suspension, 1 mg/mL;Cosyntropin Injectable Suspension 1 MG/ML + vigabatrin;Vigabatrin
7 Trial of Cannabidiol (CBD; GWP42003-P) for Infantile Spasms (GWPCARE7) Recruiting NCT02953548 Phase 3 GWP42003-P
8 Phase 3 Trial of Cannabidiol (CBD; GWP42003-P) for Infantile Spasms: Open-label Extension Phase (GWPCARE7) Enrolling by invitation NCT02954887 Phase 3 GWP42003-P
9 Prednisolone Versus Vigabatrin in the First-line Treatment of Infantile Spasms Not yet recruiting NCT02299115 Phase 3 Prednisolone;Vigabatrin
10 A Study to Assess the Efficacy, Safety, and Tolerability of Cannabidiol Oral Solution With Vigabatrin as Initial Therapy in Participants With Infantile Spasms Not yet recruiting NCT03421496 Phase 3 Cannabidiol Oral Solution;Placebo;Vigabatrin
11 Trial of the Modified Atkins Diet in Infantile Spasms Refractory to Hormonal Therapy Withdrawn NCT01549288 Phase 2, Phase 3
12 A Randomized, Controlled Trial of Ganaxolone in Patients With Infantile Spasms Completed NCT00441896 Phase 2 Ganaxolone
13 Phase II Randomized Study of Early Surgery Vs Multiple Sequential Antiepileptic Drug Therapy for Infantile Spasms Refractory to Standard Treatment Completed NCT00004758 Phase 2 carbamazepine;corticotropin;nitrazepam;pyridoxine;valproic acid
14 A Study of Radiprodil in Subjects With Drug-resistant Infantile Spasms (IS) Recruiting NCT02829827 Phase 1, Phase 2 Radiprodil
15 Cannabidiol Oral Solution for Treatment of Refractory Infantile Spasms Terminated NCT02551731 Phase 2 Cannabidiol Oral Solution
16 Open-label Extension to Protocol 1042-0500 Terminated NCT00442104 Phase 2 Ganaxolone
17 Cannabidiol in Children With Refractory Epileptic Encephalopathy Recruiting NCT03024827 Phase 1 CanniMed® 1:20
18 Prevention of West Syndrome With Low-dose Adrenocorticotropin Hormone (ACTH) Unknown status NCT01367964 adrenocorticotropin hormone
19 Acceptability Study of a New Paediatric Form of Vigabatrin in Infants and Children With Infantile Spasms or Pharmacoresistant Partial Epilepsy Unknown status NCT02220114 Vigabatrin: Vigabatrin new ST formulation then Sabril®
20 Epilepsy Phenome/Genome Project Unknown status NCT00552045
21 Molecular Genetics in Infantile Spasms Completed NCT02885389
22 Short-term Ketogenic Diet as Compared With Conventional Long-term Trial in Refractory Infantile Spasms: A Randomized, Controlled Study Completed NCT00968136
23 Sabril Patient Registry Completed NCT01073579 Sabril®
24 Clinical-genetic Investigations in Children With Early Infantile Epilepsies Completed NCT01357707
25 Metabolic Abnormalities in Children With Epilepsy Completed NCT00001325 18 FDG
26 Genetics of Severe Early Onset Epilepsies Recruiting NCT01858285
27 Genetic Studies in Patients and Families With Infantile Spasms Active, not recruiting NCT01723787
28 Potential EEG Biomarkers and Antiepileptogenic Strategies for Epilepsy in TSC Active, not recruiting NCT01767779

Search NIH Clinical Center for West Syndrome

Inferred drug relations via UMLS 69 / NDF-RT 47 :


Genetic Tests for West Syndrome

Genetic tests related to West Syndrome:

# Genetic test Affiliating Genes
1 West Syndrome 28

Anatomical Context for West Syndrome

MalaCards organs/tissues related to West Syndrome:

38
Brain, Testes, Skin, Temporal Lobe, Heart, Cortex, T Cells

Publications for West Syndrome

Articles related to West Syndrome:

(show top 50) (show all 385)
# Title Authors Year
1
Cytotoxic edema at onset in West syndrome of unknown etiology: A longitudinal diffusion tensor imaging study. ( 29315514 )
2018
2
West Syndrome: A Review and Guide for Paediatricians. ( 29086890 )
2018
3
Identification of De Novo DNMT3A Mutations That Cause West Syndrome by Using Whole-Exome Sequencing. ( 28386848 )
2017
4
Novel mutations in the CDKL5 gene in complex genotypes associated with West syndrome with variable phenotype: First description of somatic mosaic state. ( 28780406 )
2017
5
Randomized, Single-Blind, Parallel Clinical Trial on Efficacy of Oral Prednisolone Versus Intramuscular Corticotropin: A 12-Month Assessment of Spasm Control in West Syndrome. ( 28927673 )
2017
6
West syndrome in three patients with brain injury and a benign course. ( 28794986 )
2017
7
Spasm, Infantile (West Syndrome) ( 28846304 )
2017
8
DMD and West syndrome. ( 28802771 )
2017
9
Rapid whole-genome sequencing identifies a novel GABRA1 variant associated with West syndrome. ( 28864462 )
2017
10
Compare Of the West Syndrome with Other Syndromes in the Epileptic Encephalopathy - Kosovo Experience. ( 29362620 )
2017
11
Long-term outcome of a 26-year-old woman with West syndrome and an nuclear receptor subfamily 2 group F member 1 gene (NR2F1) mutation. ( 28654857 )
2017
12
Unusual Cause of West Syndrome. ( 29204211 )
2017
13
CHARACTERISTICS OF WEST SYNDROME IN GEORGIA, PRELIMINARY RESULTS OF THE PROSPECTIVE STUDY. ( 29227268 )
2017
14
Evaluation of ten prognostic factors affecting the outcome of West syndrome. ( 26850102 )
2016
15
ACTH therapy for West syndrome with severe hemophilia A. ( 27896066 )
2016
16
White Matter Abnormality Correlates with Developmental and Seizure Outcomes in West Syndrome of Unknown Etiology. ( 26585267 )
2016
17
Wolf-Hirschhorn (4p-) syndrome with West syndrome. ( 27504263 )
2016
18
Quinidine therapy for West syndrome with KCNTI mutation: A case report. ( 27578169 )
2016
19
De novo GABRA1 mutations in Ohtahara and West syndromes. ( 26918889 )
2016
20
WDR45 mutations in three male patients with West syndrome. ( 27030146 )
2016
21
Intravenous immunoglobulin therapy is rarely effective as the initial treatment in West syndrome: A retrospective study of 70 patients. ( 27538618 )
2016
22
Prognostic Utility of Clinical Epilepsy Severity Score Versus Pretreatment Hypsarrhythmia Scoring in Children With West Syndrome. ( 27582501 )
2016
23
Epileptic spasms in clusters and associated syndromes other than West syndrome: A study of 48 patients. ( 27082650 )
2016
24
Fast (40-150Hz) oscillations are associated with positive slow waves in the ictal EEGs of epileptic spasms in West syndrome. ( 27259671 )
2016
25
ACTH-induced dyskinesia in a child with West syndrome (infantile spasms). ( 26810914 )
2016
26
Oral Prednisolone Versus Intramuscular Corticotropin in West Syndrome. ( 26857521 )
2016
27
Occurrence of bilaterally independent epileptic spasms after a corpus callosotomy in West syndrome. ( 25998967 )
2015
28
West syndrome associated with a novel chromosomal anomaly; partial trisomy 8P together with partial monosomy 9P, resulting from a familial unbalanced reciprocal translocation. ( 25878738 )
2015
29
Long-term outcomes in patients with West syndrome: an outpatient clinical study. ( 25645640 )
2015
30
Long-term weekly ACTH therapy for relapsed West syndrome in tuberous sclerosis complex: A case report. ( 26482603 )
2015
31
Randomized, Single-Blind, Parallel Clinical Trial on Efficacy of Oral Prednisolone Versus Intramuscular Corticotropin on Immediate and Continued Spasm Control in West Syndrome. ( 26216500 )
2015
32
Quantitative magnetic resonance imaging evidence forA altered structural remodeling of the temporal lobe in West syndrome. ( 25802930 )
2015
33
Predictive factors for relapse of epileptic spasms after adrenocorticotropic hormone therapy in West syndrome. ( 26547521 )
2015
34
Heart rate variability in infants with West syndrome. ( 25891921 )
2015
35
LAMA2-related congenital muscular dystrophy complicated by West syndrome. ( 25500573 )
2015
36
West syndrome caused by homozygous variant in the evolutionary conserved gene encoding the mitochondrial elongation factor GUF1. ( 26486472 )
2015
37
Severe early onset ethylmalonic encephalopathy with West syndrome. ( 26194623 )
2015
38
De novo R853Q mutation of SCN2A gene and West syndrome. ( 25772804 )
2015
39
The Clinical Characteristics and Treatment Response in Children with West Syndrome in a Developing Country: A Retrospective Case Record Analysis. ( 25713006 )
2015
40
Relationship between initial electroencephalographic characteristics and seizure outcomes in children with non-lesional West syndrome. ( 25616455 )
2015
41
How should children with West syndrome be efficiently and accurately investigated? Results from the National Infantile Spasms Consortium. ( 25779538 )
2015
42
Investigations in West Syndrome: Which, When and Why. ( 26933581 )
2015
43
Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome. ( 25877686 )
2015
44
West syndrome due to vitamin B12 deficiency. ( 26884697 )
2015
45
Temporal lobe impairment in West syndrome: Event-related potential evidence. ( 25363285 )
2014
46
Partial seizures during ACTH therapy in a cryptogenic West syndrome patient. ( 23352589 )
2014
47
A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation. ( 25102098 )
2014
48
Ketosis and EEG improvement following viral gastroenteritis in patient with West syndrome. ( 24479997 )
2014
49
Dyskinesia as a new adverse effect of hormonal treatment in West syndrome. ( 24556527 )
2014
50
Successful treatment for West syndrome with severe combined immunodeficiency. ( 24534054 )
2014

Variations for West Syndrome

ClinVar genetic disease variations for West Syndrome:

6 (show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 ARX NM_139058.2(ARX) NT expansion Pathogenic rs387906492 GRCh37 Chromosome X, 25031779: 25031781
2 ARX NM_139058.2(ARX): c.1058C> T (p.Pro353Leu) single nucleotide variant Pathogenic rs104894743 GRCh37 Chromosome X, 25031054: 25031054
3 ARX ARX, 1,517-BP DEL deletion Pathogenic
4 ARX ARX, 33-BP DUP duplication Pathogenic
5 ARX ARX, 1-BP DEL, 1465G deletion Pathogenic
6 KCNQ2 NM_172107.3(KCNQ2): c.584_593delCTGCGCTCCGinsA (p.Ser195_Leu532delinsTer) indel Pathogenic rs118192197 GRCh37 Chromosome 20, 62076109: 62076118
7 ARX NM_139058.2(ARX) duplication Pathogenic rs587776869 GRCh37 Chromosome X, 25031651: 25031677
8 ARX NM_139058.2(ARX): c.81C> G (p.Tyr27Ter) single nucleotide variant Pathogenic rs398122854 GRCh37 Chromosome X, 25033774: 25033774
9 ARX NM_139058.2(ARX): c.1604T> A (p.Leu535Gln) single nucleotide variant Pathogenic rs387906715 GRCh37 Chromosome X, 25022872: 25022872
10 TSC2 NM_000548.4(TSC2): c.4662+1G> A single nucleotide variant Pathogenic rs45514095 GRCh37 Chromosome 16, 2135324: 2135324
11 TBC1D24 NM_001199107.1(TBC1D24): c.1008delT (p.His336Glnfs) deletion Pathogenic rs398122967 GRCh37 Chromosome 16, 2548263: 2548263
12 ARX NM_139058.2(ARX): c.30C> A (p.Cys10Ter) single nucleotide variant Pathogenic rs794726959 GRCh37 Chromosome X, 25033825: 25033825
13 ARX NM_139058.2(ARX): c.1002_1007delGTTCACinsTGTACCA (p.Phe335Valfs) indel Pathogenic rs869312662 GRCh38 Chromosome X, 25012988: 25012993
14 WWOX NM_016373.3(WWOX): c.779C> G (p.Ser260Ter) single nucleotide variant Pathogenic rs878855021 GRCh37 Chromosome 16, 78458940: 78458940
15 WWOX NM_016373.3(WWOX): c.790C> T (p.Arg264Ter) single nucleotide variant Pathogenic rs756762196 GRCh38 Chromosome 16, 78425054: 78425054
16 WWOX NC_000016.10: g.(?_78318746)_(78386940_?)dup duplication Pathogenic GRCh38 Chromosome 16, 78318746: 78386940
17 TBC1D24 NC_000016.10: g.(?_2496129)_(2500978_?)del deletion Pathogenic GRCh38 Chromosome 16, 2496129: 2500978
18 ARX NM_139058.2(ARX) duplication Pathogenic GRCh37 Chromosome X, 25031654: 25031686

Copy number variations for West Syndrome from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 246801 9 125800000 132500000 Copy number SPTAN1 West syndrome
2 246805 9 125800000 132500000 Microdeletion STXBP1 West syndrome
3 247706 9 130689850 130689869 Microdeletion SPTAN1 West syndrome
4 261365 X 18331857 18460326 Deletion CDKL5 West syndrome

Expression for West Syndrome

Search GEO for disease gene expression data for West Syndrome.

Pathways for West Syndrome

Pathways related to West Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 Glycosphingolipid biosynthesis - lacto and neolacto series hsa00601

GO Terms for West Syndrome

Cellular components related to West Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 voltage-gated sodium channel complex GO:0001518 9.26 SCN2A SCN8A
2 axon initial segment GO:0043194 9.16 KCNQ2 SCN8A
3 terminal bouton GO:0043195 9.13 NTRK2 STXBP1 TBC1D24
4 node of Ranvier GO:0033268 8.8 KCNQ2 SCN2A SCN8A

Biological processes related to West Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nervous system development GO:0007399 9.65 ARX KCNQ2 NTRK2 SCN2A SCN8A
2 neuron migration GO:0001764 9.5 ARX CDKL5 NTRK2
3 preassembly of GPI anchor in ER membrane GO:0016254 9.37 PIGA PIGW
4 glutamate receptor signaling pathway GO:0007215 9.16 GRIN2B PLCB1
5 insulin-like growth factor receptor signaling pathway GO:0048009 8.96 PLCB1 TSC2
6 regulation of ion transmembrane transport GO:0034765 8.92 GRIN2B KCNQ2 SCN2A SCN8A

Molecular functions related to West Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 voltage-gated sodium channel activity GO:0005248 8.96 SCN2A SCN8A
2 ion channel activity GO:0005216 8.8 GRIN2B SCN2A SCN8A

Sources for West Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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