IS
MCID: WST001
MIFTS: 57

West Syndrome (IS)

Categories: Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for West Syndrome

MalaCards integrated aliases for West Syndrome:

Name: West Syndrome 41 12 76 53 54 59 37 29 6 15 40 73
X-Linked Infantile Spasm Syndrome 53 73
Infantile Spasm 53 73
Tonic Spasms with Clustering, Arrest of Psychomotor Development and Hypsarrhythmia on Eeg 53
Intellectual Disability-Hypsarrhythmia Syndrome 59
Epileptic Encephalopathy, Early Infantile, 1 41
Infantile Spasms Syndrome 12
X-Linked Infantile Spasms 53
Infantile Spasms 59
West's Syndrome 53
Mesh:d013036 12
is 53

Characteristics:

Orphanet epidemiological data:

59
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: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050562
Orphanet 59 ORPHA3451
UMLS via Orphanet 74 C0037769
ICD10 via Orphanet 34 G40.4
KEGG 37 H01460

Summaries for West Syndrome

NIH Rare Diseases : 53 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.

MalaCards based summary : West Syndrome, also known as x-linked infantile spasm syndrome, is related to aicardi syndrome and infantile epileptic encephalopathy, and has symptoms including seizures An important gene associated with West Syndrome is STXBP1 (Syntaxin Binding Protein 1), and among its related pathways/superpathways are Glycosphingolipid biosynthesis - lacto and neolacto series and Neuroscience. The drugs Vigabatrin and PK 11195 have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and skin, and related phenotypes are developmental regression and myoclonus

Disease Ontology : 12 An infancy electroclinical syndrome that is characterized by infantile spasms, hypsarrhythmia on electroencephalogram and intellectual disability.

NINDS : 54 An epileptic spasm is a specific type of seizure seen in an epilepsy syndrome of infancy and childhood often called West Syndrome.  These are more commonly called infantile spasms (IS) since they are seen most often in the first year of life.  West Syndrome/IS is characterized by epileptic spasms, developmental problems, and a specific brain wave pattern on electroencephalography (EEG) testing called hypsarrhythmia.  The onset is usually in the first year of life, typically between 4-8 months.  The seizures often look like a sudden bending forward of the body with stiffening of the arms and legs lasting for 1-2 seconds; some children arch their backs as they extend their arms and legs.  Spasms tend to occur upon awakening and often occur in multiple clusters and hundreds of seizures per day.  Most children, but not all, will have EEG readings of  hypsarrhythmia.  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 IS, making it important to identify the underlying cause.  In some children, no cause can be found.

Wikipedia : 76 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 228)
# Related Disease Score Top Affiliating Genes
1 aicardi syndrome 33.6 CDKL5 FLNA
2 infantile epileptic encephalopathy 33.2 CDKL5 LINC00581 PLCB1 SCN2A SPTAN1 STXBP1
3 epileptic encephalopathy, early infantile, 1 33.2 ARX PLCB1
4 lennox-gastaut syndrome 32.5 POMC ST3GAL3 STXBP1
5 early infantile epileptic encephalopathy 32.1 ARX CDKL5 GUF1 PLCB1 SCN2A SIK1
6 encephalopathy 30.5 ARX CDKL5 MECP2 SPTAN1 STXBP1
7 seizure disorder 30.4 CDKL5 MECP2 SCN2A
8 epilepsy 30.3 ARX CDKL5 GRIN2B MECP2 SCN2A STXBP1
9 early myoclonic encephalopathy 29.7 ARX CDKL5 SIK1
10 focal epilepsy 29.6 CDKL5 GRIN2B SCN2A SPTAN1 TSC2
11 autism 29.5 ARX CDKL5 GRIN2B MECP2 SCN2A TSC2
12 infantile spasms broad thumbs 12.2
13 infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome 12.1
14 cryptogenic late-onset epileptic spasms 11.5
15 microcephaly, corpus callosum dysgenesis, and cleft lip/palate 11.4
16 epileptic encephalopathy, early infantile, 2 11.4
17 pachygyria 11.3
18 peho syndrome 11.2
19 cdkl5 deficiency disorder 11.1
20 hemolytic anemia, lethal congenital nonspherocytic, with genital and other abnormalities 11.0
21 aicardi-goutieres syndrome 1 11.0
22 corpus callosum, agenesis of, with abnormal genitalia 11.0
23 lissencephaly, x-linked, 2 11.0
24 mental retardation, x-linked, with or without seizures, arx-related 11.0
25 partington x-linked mental retardation syndrome 11.0
26 band heterotopia 11.0
27 neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination 11.0
28 peho-like syndrome 11.0
29 fukuyama type muscular dystrophy 11.0
30 sandifer syndrome 11.0
31 scn8a encephalopathy 11.0
32 x-linked lissencephaly with abnormal genitalia 11.0
33 epileptic encephalopathy, early infantile, 11 11.0
34 epileptic encephalopathy, early infantile, 12 11.0
35 epileptic encephalopathy, early infantile, 13 11.0
36 scn1a-related seizure disorders 11.0
37 epileptic encephalopathy, early infantile, 6 10.3 CDKL5 SCN2A STXBP1
38 hypothalamic disease 10.3 CRH POMC
39 neonatal period electroclinical syndrome 10.3 ARX CDKL5 SCN2A STXBP1
40 gangliocytoma 10.3 CRH POMC
41 gait apraxia 10.3 CDKL5 MECP2
42 benign epilepsy with centrotemporal spikes 10.3 PLCB1 SCN2A SPTAN1
43 specific developmental disorder 10.3 ARX CDKL5 MECP2 POMC
44 pituitary carcinoma 10.3 CRH POMC
45 malignant migrating partial seizures of infancy 10.3 PLCB1 SCN2A
46 autosomal dominant non-syndromic intellectual disability 10.3 GRIN2B SCN2A STXBP1
47 lubs x-linked mental retardation syndrome 10.3 FLNA MECP2
48 acth deficiency, isolated 10.3 CRH POMC
49 visual epilepsy 10.3 CDKL5 MECP2 SCN2A STXBP1
50 infancy electroclinical syndrome 10.3 ARX CDKL5 POMC SCN2A STXBP1

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:

59 32 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 developmental regression 59 32 hallmark (90%) Very frequent (99-80%) HP:0002376
2 myoclonus 59 32 hallmark (90%) Very frequent (99-80%) HP:0001336
3 infantile spasms 59 32 hallmark (90%) Very frequent (99-80%) HP:0012469
4 abnormality of skin morphology 59 32 frequent (33%) Frequent (79-30%) HP:0011121
5 hypsarrhythmia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002521
6 abnormality of the nervous system 59 Frequent (79-30%)

UMLS symptoms related to West Syndrome:


seizures

MGI Mouse Phenotypes related to West Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.07 ARX CDKL5 CRH FLNA GRIN2B MECP2
2 growth/size/body region MP:0005378 9.97 ARX CNPY3 CRH FLNA GRIN2B MECP2
3 mortality/aging MP:0010768 9.77 ARX CNPY3 FLNA GRIN2B MECP2 NTRK2
4 nervous system MP:0003631 9.47 ARX CDKL5 CRH FLNA GRIN2B MECP2

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,Not Applicable 60643-86-9, 68506-86-5 5665
2 PK 11195 Phase 4 85532-75-8
3 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Not Applicable
4 Anticonvulsants Phase 4,Phase 3,Phase 2,Not Applicable
5 GABA Agents Phase 4,Phase 3,Phase 2,Not Applicable
6
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
7
Methylprednisolone hemisuccinate Approved Phase 3 2921-57-5
8
Prednisolone phosphate Approved, Vet_approved Phase 3 302-25-0
9
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
10
Ethanol Approved Phase 3 64-17-5 702
11 Strawberry Approved Phase 3
12
Cosyntropin Approved Phase 3 16960-16-0 16129617
13
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3,Phase 2 59-30-3 6037
14
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved Phase 3,Phase 2 65-23-6 1054
15
Prednisolone hemisuccinate Experimental Phase 3 2920-86-7
16 Calcium, Dietary Phase 2, Phase 3
17 Soy Bean Phase 2, Phase 3
18 Hormones Phase 3,Phase 2,Not Applicable
19 Autonomic Agents Phase 3
20 Prednisolone acetate Phase 3
21 Peripheral Nervous System Agents Phase 3,Phase 2
22 Anti-Inflammatory Agents Phase 3
23 Antiemetics Phase 3
24 Methylprednisolone acetate Phase 3
25 Antineoplastic Agents, Hormonal Phase 3
26 Hormone Antagonists Phase 3,Phase 2,Not Applicable
27 Gastrointestinal Agents Phase 3
28 glucocorticoids Phase 3
29 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2,Not Applicable
30 Protective Agents Phase 3
31 Neuroprotective Agents Phase 3
32 Vitamin B 6 Phase 3,Phase 2
33 Micronutrients Phase 3,Phase 2
34 Vitamin B9 Phase 3,Phase 2
35 Folate Phase 3,Phase 2
36 Vitamin B Complex Phase 3,Phase 2
37 Trace Elements Phase 3,Phase 2
38 Vitamins Phase 3,Phase 2
39 Pharmaceutical Solutions Phase 3,Phase 2,Not Applicable
40
Pyridoxal Experimental, Nutraceutical Phase 3,Phase 2 66-72-8 1050
41
Nitrazepam Approved Phase 2 146-22-5 4506
42
Valproic Acid Approved, Investigational Phase 2 99-66-1 3121
43
Carbamazepine Approved, Investigational Phase 2 298-46-4 2554
44 Anesthetics Phase 2
45 Pregnanolone Phase 2 128-20-1
46 Central Nervous System Depressants Phase 2
47 Antimanic Agents Phase 2
48 beta-endorphin Phase 2,Not Applicable
49 Psychotropic Drugs Phase 2
50 Hypnotics and Sedatives Phase 2

Interventional clinical trials:

(show all 31)
# 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 Use of the Modified Atkins Diet in Infantile Spasms Completed NCT01006811 Phase 2, Phase 3
4 Prednisolone in Infantile Spasms- High Dose Versus Usual Dose Completed NCT01575639 Phase 3 Oral prednisolone
5 Addition of Pyridoxine to Prednisolone in Infantile Spasms Completed NCT01828437 Phase 3 Pyridoxine plus prednisolone;Prednisolone
6 Prednisolone Versus Vigabatrin in the First-line Treatment of Infantile Spasms Recruiting NCT02299115 Phase 3 Prednisolone;Vigabatrin
7 A Study to Assess the Efficacy, Safety, and Tolerability of Cannabidiol Oral Solution With Vigabatrin as Initial Therapy in Participants With Infantile Spasms Recruiting NCT03421496 Phase 3 Cannabidiol Oral Solution;Placebo;Vigabatrin
8 Trial of Cannabidiol (CBD; GWP42003-P) for Infantile Spasms (GWPCARE7) Active, not recruiting NCT02953548 Phase 3 GWP42003-P
9 Phase 3 Trial of Cannabidiol (CBD; GWP42003-P) for Infantile Spasms: Open-label Extension Phase (GWPCARE7) Active, not recruiting NCT02954887 Phase 3 GWP42003-P
10 A Novel Approach to Infantile Spasms Enrolling by invitation NCT03347526 Phase 3 Cosyntropin Injectable Suspension, 1 mg/mL;Cosyntropin Injectable Suspension 1 MG/ML + vigabatrin;Vigabatrin
11 Evaluation of the Modified Atkins Diet in Children With Epileptic Spasms Not yet recruiting NCT03807141 Phase 2, Phase 3
12 Trial of the Modified Atkins Diet in Infantile Spasms Refractory to Hormonal Therapy Withdrawn NCT01549288 Phase 2, Phase 3
13 A Randomized, Controlled Trial of Ganaxolone in Patients With Infantile Spasms Completed NCT00441896 Phase 2 Ganaxolone
14 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
15 A Phase 2, Multicenter, Randomized, Double-blind, Placebo-controlled Study to Evaluate the Efficacy, Safety, and Tolerability of TAK-935 (OV935) as an Adjunctive Therapy in Pediatric Patients With Developmental and/or Epileptic Encephalopathies Recruiting NCT03650452 Phase 2 TAK-935;Placebo
16 A Clinical Study to Evaluate the Potential Role of ACTH Gel in Patients With Scleritis Not yet recruiting NCT03465111 Phase 2 ACTH (adrenocorticotropic hormone) gel
17 A Phase 2 Study of Radiprodil in Subjects With Drug-resistant Infantile Spasms (IS) Terminated NCT02829827 Phase 2 Radiprodil
18 Cannabidiol Oral Solution for Treatment of Refractory Infantile Spasms Terminated NCT02551731 Phase 2 Cannabidiol Oral Solution
19 Open-label Extension to Protocol 1042-0500 Terminated NCT00442104 Phase 2 Ganaxolone
20 Cannabidiol in Children With Refractory Epileptic Encephalopathy Recruiting NCT03024827 Phase 1 CanniMed® 1:20
21 Molecular Genetics in Infantile Spasms Completed NCT02885389
22 Acceptability Study of a New Paediatric Form of Vigabatrin in Infants and Children With Infantile Spasms or Pharmacoresistant Partial Epilepsy Completed NCT02220114 Not Applicable Vigabatrin: Vigabatrin new ST formulation then Sabril®
23 Short-term Ketogenic Diet as Compared With Conventional Long-term Trial in Refractory Infantile Spasms: A Randomized, Controlled Study Completed NCT00968136
24 Sabril Patient Registry Completed NCT01073579 Sabril®
25 Clinical-genetic Investigations in Children With Early Infantile Epilepsies Completed NCT01357707
26 Epilepsy Phenome/Genome Project Completed NCT00552045
27 Metabolic Abnormalities in Children With Epilepsy Completed NCT00001325 18 FDG
28 Genetics of Severe Early Onset Epilepsies Recruiting NCT01858285
29 Prevention of West Syndrome With Low-dose Adrenocorticotropin Hormone (ACTH) Active, not recruiting NCT01367964 Not Applicable adrenocorticotropin hormone
30 Genetic Studies in Patients and Families With Infantile Spasms Active, not recruiting NCT01723787
31 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 73 / NDF-RT 51 :


Genetic Tests for West Syndrome

Genetic tests related to West Syndrome:

# Genetic test Affiliating Genes
1 West Syndrome 29

Anatomical Context for West Syndrome

MalaCards organs/tissues related to West Syndrome:

41
Brain, Testes, Skin, Temporal Lobe, Eye, T Cells, B Cells

Publications for West Syndrome

Articles related to West Syndrome:

(show top 50) (show all 423)
# Title Authors Year
1
West Syndrome: A Review and Guide for Paediatricians. ( 29086890 )
2018
2
Cytotoxic edema at onset in West syndrome of unknown etiology: A longitudinal diffusion tensor imaging study. ( 29315514 )
2018
3
Deletions of SCN2A and SCN3A genes in a patient with West syndrome and autistic spectrum disorder. ( 29929112 )
2018
4
Case of xeroderma pigmentosum group A with West syndrome. ( 29797530 )
2018
5
Review of West Syndrome: Concerns on Optimum Dose of Adrenocorticotrophic Hormone. ( 29556856 )
2018
6
Novel West syndrome candidate genes in a Chinese cohort. ( 29667327 )
2018
7
Vigabatrin and high-dose prednisolone therapy for patients with West syndrome. ( 29966811 )
2018
8
Early Seizure Freedom Is a Prognostic Factor for Survival in Patients with West Syndrome. ( 29783274 )
2018
9
Chromosome 14q11.2-q21.1 duplication: a rare cause of West syndrome. ( 29905153 )
2018
10
B3GALNT2-Related Dystroglycanopathy: Expansion of the Phenotype with Novel Mutation Associated with Muscle-Eye-Brain Disease, Walker-Warburg Syndrome, Epileptic Encephalopathy-West Syndrome, and Sensorineural Hearing Loss. ( 29791932 )
2018
11
Metabolic etiologies in West syndrome. ( 29881795 )
2018
12
Serial Analysis of Multiple Serum Cytokine Responses to Adrenocorticotropic Hormone Therapy in Patients With West Syndrome. ( 29724126 )
2018
13
West syndrome, developmental and epileptic encephalopathy, and severe CNS disorder associated with WWOX mutations. ( 30361190 )
2018
14
Infantile Tuberculous Meningitis Complicated by West Syndrome. ( 30090146 )
2018
15
Clinical Reasoning: West syndrome, pontocerebellar hypoplasia, and hypomyelination in a 6-month-old boy. ( 30348860 )
2018
16
Everolimus in infants with tuberous sclerosis complex-related West syndrome: First results from a single-center prospective observational study. ( 30098008 )
2018
17
Novel IARS2 mutations in Japanese siblings with CAGSSS, Leigh, and West syndrome. ( 30041933 )
2018
18
Biallelic loss-of-function UBA5 mutations in a patient with intractable West syndrome and profound failure to thrive. ( 30078785 )
2018
19
A patient-specific induced pluripotent stem cell model for West syndrome caused by ST3GAL3 deficiency. ( 30089820 )
2018
20
Longitudinal Findings of MRI and PET in West Syndrome with Subtle Focal Cortical Dysplasia. ( 30213810 )
2018
21
Corticotrophin-ACTH in Comparison to Prednisolone in West Syndrome - A Randomized Study. ( 30232789 )
2018
22
A novel C-terminal truncated mutation in hCDKL5 protein causing a severe West syndrome: Comparison with previous truncated mutations and genotype/phenotype correlation. ( 30236769 )
2018
23
De novo PHACTR1 mutations in West syndrome and their pathophysiological effects. ( 30256902 )
2018
24
Safety, tolerability, and effectiveness of oral zonisamide therapy in comparison with intramuscular adrenocorticotropic hormone therapy in infants with West syndrome. ( 30293931 )
2018
25
Surgical and developmental outcomes of corpus callosotomy for West syndrome in patients without MRI lesions. ( 30395353 )
2018
26
Efficacy and safety of pyridoxal in West syndrome: A retrospective study. ( 30528382 )
2018
27
A de novo 1p35.2 microdeletion including PUM1 identified in a patient with sporadic West syndrome. ( 30536491 )
2018
28
PLCB1 Biallelic Point Mutations Cause West Syndrome. ( 30554916 )
2018
29
Spasm, Infantile (West Syndrome) ( 28846304 )
2017
30
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
31
Identification of De Novo DNMT3A Mutations That Cause West Syndrome by Using Whole-Exome Sequencing. ( 28386848 )
2017
32
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
33
Unusual Cause of West Syndrome. ( 29204211 )
2017
34
Novel mutations in the CDKL5 gene in complex genotypes associated with West syndrome with variable phenotype: First description of somatic mosaic state. ( 28780406 )
2017
35
CHARACTERISTICS OF WEST SYNDROME IN GEORGIA, PRELIMINARY RESULTS OF THE PROSPECTIVE STUDY. ( 29227268 )
2017
36
DMD and West syndrome. ( 28802771 )
2017
37
Complex observation of scalp fast (40-150 Hz) oscillations in West syndrome and related disorders with structural brain pathology. ( 29588955 )
2017
38
West syndrome in three patients with brain injury and a benign course. ( 28794986 )
2017
39
Compare Of the West Syndrome with Other Syndromes in the Epileptic Encephalopathy - Kosovo Experience. ( 29362620 )
2017
40
Rapid whole-genome sequencing identifies a novel GABRA1 variant associated with West syndrome. ( 28864462 )
2017
41
Evaluation of ten prognostic factors affecting the outcome of West syndrome. ( 26850102 )
2016
42
Fast (40-150Hz) oscillations are associated with positive slow waves in the ictal EEGs of epileptic spasms in West syndrome. ( 27259671 )
2016
43
Prognostic Utility of Clinical Epilepsy Severity Score Versus Pretreatment Hypsarrhythmia Scoring in Children With West Syndrome. ( 27582501 )
2016
44
Oral Prednisolone Versus Intramuscular Corticotropin in West Syndrome. ( 26857521 )
2016
45
Intravenous immunoglobulin therapy is rarely effective as the initial treatment in West syndrome: A retrospective study of 70 patients. ( 27538618 )
2016
46
ACTH-induced dyskinesia in a child with West syndrome (infantile spasms). ( 26810914 )
2016
47
Quinidine therapy for West syndrome with KCNTI mutation: A case report. ( 27578169 )
2016
48
White Matter Abnormality Correlates with Developmental and Seizure Outcomes in West Syndrome of Unknown Etiology. ( 26585267 )
2016
49
WDR45 mutations in three male patients with West syndrome. ( 27030146 )
2016
50
Wolf-Hirschhorn (4p-) syndrome with West syndrome. ( 27504263 )
2016

Variations for West Syndrome

ClinVar genetic disease variations for West Syndrome:

6 (show top 50) (show all 142)
# Gene Variation Type Significance SNP ID Assembly Location
1 TSC2 NM_000548.4(TSC2): c.4662+1G> A single nucleotide variant Pathogenic rs45514095 GRCh37 Chromosome 16, 2135324: 2135324
2 TSC2 NM_000548.4(TSC2): c.4662+1G> A single nucleotide variant Pathogenic rs45514095 GRCh38 Chromosome 16, 2085323: 2085323
3 SCN1A NM_006920.4(SCN1A): c.5837A> G (p.Glu1946Gly) single nucleotide variant Uncertain significance rs121918802 GRCh37 Chromosome 2, 166847915: 166847915
4 SCN1A NM_006920.4(SCN1A): c.5837A> G (p.Glu1946Gly) single nucleotide variant Uncertain significance rs121918802 GRCh38 Chromosome 2, 165991405: 165991405
5 CDKL5 NM_003159.2(CDKL5): c.2995G> A (p.Val999Met) single nucleotide variant Benign rs35693326 GRCh37 Chromosome X, 18671566: 18671566
6 CDKL5 NM_003159.2(CDKL5): c.2995G> A (p.Val999Met) single nucleotide variant Benign rs35693326 GRCh38 Chromosome X, 18653446: 18653446
7 CDKL5 NM_003159.2(CDKL5): c.99+1G> T single nucleotide variant Likely pathogenic rs267608421 GRCh38 Chromosome X, 18510855: 18510855
8 CDKL5 NM_003159.2(CDKL5): c.99+1G> T single nucleotide variant Likely pathogenic rs267608421 GRCh37 Chromosome X, 18528975: 18528975
9 STXBP1 NM_003165.3(STXBP1): c.364C> T (p.Arg122Ter) single nucleotide variant Pathogenic rs794727792 GRCh37 Chromosome 9, 130423419: 130423419
10 STXBP1 NM_003165.3(STXBP1): c.364C> T (p.Arg122Ter) single nucleotide variant Pathogenic rs794727792 GRCh38 Chromosome 9, 127661140: 127661140
11 KDM2B NM_032590.4(KDM2B): c.3050G> A (p.Arg1017His) single nucleotide variant Likely pathogenic rs782304760 GRCh37 Chromosome 12, 121880194: 121880194
12 KDM2B NM_032590.4(KDM2B): c.3050G> A (p.Arg1017His) single nucleotide variant Likely pathogenic rs782304760 GRCh38 Chromosome 12, 121442391: 121442391
13 MLLT1 NM_005934.3(MLLT1): c.1418G> A (p.Arg473Gln) single nucleotide variant Likely pathogenic rs749203329 GRCh37 Chromosome 19, 6213798: 6213798
14 MLLT1 NM_005934.3(MLLT1): c.1418G> A (p.Arg473Gln) single nucleotide variant Likely pathogenic rs749203329 GRCh38 Chromosome 19, 6213787: 6213787
15 PIK3AP1 NC_000010.11: g.(?_96640079)_(96645581_?)dup duplication Uncertain significance GRCh38 Chromosome 10, 96640079: 96645581
16 PIK3AP1 NC_000010.11: g.(?_96640079)_(96645581_?)dup duplication Uncertain significance GRCh37 Chromosome 10, 98399836: 98405338
17 PIK3AP1 NM_152309.2(PIK3AP1): c.2337G> A (p.Val779=) single nucleotide variant Benign rs145459703 GRCh37 Chromosome 10, 98362060: 98362060
18 PIK3AP1 NM_152309.2(PIK3AP1): c.2337G> A (p.Val779=) single nucleotide variant Benign rs145459703 GRCh38 Chromosome 10, 96602303: 96602303
19 PIK3AP1 NM_152309.2(PIK3AP1): c.2294T> C (p.Val765Ala) single nucleotide variant Uncertain significance GRCh37 Chromosome 10, 98362103: 98362103
20 PIK3AP1 NM_152309.2(PIK3AP1): c.2294T> C (p.Val765Ala) single nucleotide variant Uncertain significance GRCh38 Chromosome 10, 96602346: 96602346
21 PIK3AP1 NM_152309.2(PIK3AP1): c.2251G> T (p.Val751Phe) single nucleotide variant Likely benign rs147376017 GRCh37 Chromosome 10, 98362146: 98362146
22 PIK3AP1 NM_152309.2(PIK3AP1): c.2251G> T (p.Val751Phe) single nucleotide variant Likely benign rs147376017 GRCh38 Chromosome 10, 96602389: 96602389
23 PIK3AP1 NM_152309.2(PIK3AP1): c.2076A> G (p.Gly692=) single nucleotide variant Benign rs141067860 GRCh37 Chromosome 10, 98369563: 98369563
24 PIK3AP1 NM_152309.2(PIK3AP1): c.2076A> G (p.Gly692=) single nucleotide variant Benign rs141067860 GRCh38 Chromosome 10, 96609806: 96609806
25 PIK3AP1 NM_152309.2(PIK3AP1): c.1506T> C (p.Asp502=) single nucleotide variant Benign rs74496843 GRCh37 Chromosome 10, 98386628: 98386628
26 PIK3AP1 NM_152309.2(PIK3AP1): c.1506T> C (p.Asp502=) single nucleotide variant Benign rs74496843 GRCh38 Chromosome 10, 96626871: 96626871
27 PIK3AP1 NM_152309.2(PIK3AP1): c.861T> C (p.Phe287=) single nucleotide variant Benign rs138990701 GRCh37 Chromosome 10, 98411132: 98411132
28 PIK3AP1 NM_152309.2(PIK3AP1): c.861T> C (p.Phe287=) single nucleotide variant Benign rs138990701 GRCh38 Chromosome 10, 96651375: 96651375
29 PIK3AP1 NM_152309.2(PIK3AP1): c.828C> T (p.Ala276=) single nucleotide variant Benign rs35668691 GRCh37 Chromosome 10, 98411293: 98411293
30 PIK3AP1 NM_152309.2(PIK3AP1): c.828C> T (p.Ala276=) single nucleotide variant Benign rs35668691 GRCh38 Chromosome 10, 96651536: 96651536
31 PIK3AP1 NM_152309.2(PIK3AP1): c.767G> A (p.Cys256Tyr) single nucleotide variant Benign rs141221035 GRCh37 Chromosome 10, 98411354: 98411354
32 PIK3AP1 NM_152309.2(PIK3AP1): c.767G> A (p.Cys256Tyr) single nucleotide variant Benign rs141221035 GRCh38 Chromosome 10, 96651597: 96651597
33 PIK3AP1 NM_152309.2(PIK3AP1): c.113G> T (p.Arg38Leu) single nucleotide variant Uncertain significance rs770855063 GRCh37 Chromosome 10, 98469641: 98469641
34 PIK3AP1 NM_152309.2(PIK3AP1): c.113G> T (p.Arg38Leu) single nucleotide variant Uncertain significance rs770855063 GRCh38 Chromosome 10, 96709884: 96709884
35 PIK3AP1 NM_152309.2(PIK3AP1): c.20C> T (p.Pro7Leu) single nucleotide variant Benign rs73334383 GRCh37 Chromosome 10, 98469734: 98469734
36 PIK3AP1 NM_152309.2(PIK3AP1): c.20C> T (p.Pro7Leu) single nucleotide variant Benign rs73334383 GRCh38 Chromosome 10, 96709977: 96709977
37 PIK3AP1 NM_152309.2(PIK3AP1): c.2171-7C> T single nucleotide variant Benign rs111902593 GRCh37 Chromosome 10, 98363813: 98363813
38 PIK3AP1 NM_152309.2(PIK3AP1): c.2171-7C> T single nucleotide variant Benign rs111902593 GRCh38 Chromosome 10, 96604056: 96604056
39 PIK3AP1 NM_152309.2(PIK3AP1): c.471C> T (p.Asp157=) single nucleotide variant Benign rs117500254 GRCh37 Chromosome 10, 98416651: 98416651
40 PIK3AP1 NM_152309.2(PIK3AP1): c.471C> T (p.Asp157=) single nucleotide variant Benign rs117500254 GRCh38 Chromosome 10, 96656894: 96656894
41 PIK3AP1 NM_152309.2(PIK3AP1): c.1495C> T (p.Leu499=) single nucleotide variant Likely benign rs199720844 GRCh37 Chromosome 10, 98386639: 98386639
42 PIK3AP1 NM_152309.2(PIK3AP1): c.2379C> T (p.Thr793=) single nucleotide variant Benign rs201824606 GRCh37 Chromosome 10, 98355373: 98355373
43 PIK3AP1 NM_152309.2(PIK3AP1): c.2379C> T (p.Thr793=) single nucleotide variant Benign rs201824606 GRCh38 Chromosome 10, 96595616: 96595616
44 PIK3AP1 NM_152309.2(PIK3AP1): c.1495C> T (p.Leu499=) single nucleotide variant Likely benign rs199720844 GRCh38 Chromosome 10, 96626882: 96626882
45 PIK3AP1 NM_152309.2(PIK3AP1): c.1092G> A (p.Ala364=) single nucleotide variant Benign rs35035564 GRCh38 Chromosome 10, 96648752: 96648752
46 PIK3AP1 NM_152309.2(PIK3AP1): c.1092G> A (p.Ala364=) single nucleotide variant Benign rs35035564 GRCh37 Chromosome 10, 98408509: 98408509
47 PIK3AP1 NM_152309.2(PIK3AP1): c.1014C> A (p.Thr338=) single nucleotide variant Likely benign rs374819025 GRCh38 Chromosome 10, 96648830: 96648830
48 PIK3AP1 NM_152309.2(PIK3AP1): c.1014C> A (p.Thr338=) single nucleotide variant Likely benign rs374819025 GRCh37 Chromosome 10, 98408587: 98408587
49 PIK3AP1 NM_152309.2(PIK3AP1): c.217G> T (p.Ala73Ser) single nucleotide variant Likely benign rs146527410 GRCh37 Chromosome 10, 98469537: 98469537
50 PIK3AP1 NM_152309.2(PIK3AP1): c.217G> T (p.Ala73Ser) single nucleotide variant Likely benign rs146527410 GRCh38 Chromosome 10, 96709780: 96709780

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:

37
# Name Kegg Source Accession
1 Glycosphingolipid biosynthesis - lacto and neolacto series hsa00601

Pathways related to West Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.63 GRIN2B MECP2 NTRK2 POMC SCN2A STXBP1
2 11.42 CDKL5 GRIN2B NTRK2 TSC2
3 10 CRH POMC

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 perinuclear region of cytoplasm GO:0048471 9.55 CDKL5 FLNA NTRK2 STXBP1 TSC2
2 glutamatergic synapse GO:0098978 9.35 CDKL5 FLNA PLCB1 SCN2A STXBP1
3 postsynapse GO:0098794 8.92 FLNA MECP2 PLCB1 STXBP1

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

# Name GO ID Score Top Affiliating Genes
1 neuron migration GO:0001764 9.54 ARX CDKL5 NTRK2
2 glutamate receptor signaling pathway GO:0007215 9.32 GRIN2B PLCB1
3 preassembly of GPI anchor in ER membrane GO:0016254 9.26 PIGA PIGW
4 insulin-like growth factor receptor signaling pathway GO:0048009 9.16 PLCB1 TSC2
5 cerebral cortex development GO:0021987 9.13 FLNA NTRK2 PLCB1
6 long-term synaptic potentiation GO:0060291 8.92 CRH GRIN2B MECP2 NTRK2

Sources for West Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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