IS
MCID: WST001
MIFTS: 64

West Syndrome (IS) malady

Ear diseases category

Summaries for West Syndrome

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21Genetics Home Reference, 42NIH Rare Diseases, 43NINDS, 63Wikipedia, 32MalaCards
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NINDS:43 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.

MalaCards: West Syndrome, also known as x-linked infantile spasm syndrome, is related to breast cancer and multiple sclerosis. An important gene associated with West Syndrome is CDKL5 (cyclin-dependent kinase-like 5), and among its related pathways is Neuroscience. The drug topiramate and the compounds maoa and ether have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and t cells, and related mouse phenotypes are hearing/vestibular/ear and craniofacial.

Genetics Home Reference:21 X-linked infantile spasm syndrome is a seizure disorder characterized by a type of seizure known as infantile spasms. The spasms usually appear before the age of 1. Several types of spasms have been described, but the most commonly reported involves bending at the waist and neck with extension of the arms and legs (sometimes called a jackknife spasm). Each spasm lasts only seconds, but they occur in clusters several minutes long. Although individuals are not usually affected while they are sleeping, the spasms commonly occur just after awakening. Infantile spasms usually disappear by age 5, but many children then develop other types of seizures that recur throughout their lives.

NIH Rare Diseases:42 West syndrome is 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 underlying disorders, such as birth injury, 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. last updated: 3/28/2011

Wikipedia:63 Epileptic spasms, infantile spasms, juvenile spasms, West syndrome or West\'s syndrome is an uncommon to... more...

Aliases & Classifications for West Syndrome

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8Disease Ontology, 42NIH Rare Diseases, 43NINDS, 21Genetics Home Reference, 22GTR, 60UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Ear diseases


Aliases & Descriptions:

west syndrome 8 42 43
x-linked infantile spasm syndrome 42 21 60
west's syndrome 42 22
tonic spasms with clustering, arrest of psychomotor development and hypsarrhythmia on eeg 42
infantile epileptic-dyskinetic encephalopathy 21
early infantile epileptic encephalopathy 21
x-linked west syndrome 21
infantile spasms 60
infantile spasm 42
issx 21
is 42


External Ids:

Disease Ontology8 DOID:0050562

Related Diseases for West Syndrome

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17GeneCards, 18GeneDecks
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Diseases related to West Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 7245)
idRelated DiseaseScoreTop Affiliating Genes
1breast cancer31.4PTCH1, MECP2
2multiple sclerosis30.8SPTAN1, POMC
3schizophrenia30.8PVALB, MECP2, SLC1A3, SPTAN1, TPH1
4brain disease30.7ARX, MECP2, CDKL5
5epilepsy syndrome30.6PVALB, ARX, MECP2, FLNA, CDKL5, TPH1
6infantile epileptic encephalopathy30.5ARX, MECP2, FLNA, POMC, CDKL5
7aicardi syndrome30.4FLNA, CDKL5
8xeroderma pigmentosum30.2PTCH1
9prion disease30.2CDKL5, POMC, PVALB
10early myoclonic encephalopathy30.1CDKL5, ARX
11intellectual disability30.1CDKL5, MECP2, ARX
12ohtahara syndrome30.1SLC25A22, PNKP, STXBP1
13apraxia30.0PNKP
14seasonal affective disorder30.0TPH1
15hydranencephaly29.9STXBP1
16rett syndrome29.9CDKL5, MECP2, FOXG1
17microcephaly29.8FOXG1, PHGDH, MECP2, CDKL5
18gait apraxia29.4CDKL5, MECP2
19mental retardation29.4TPH1, IDUA, RDX, ARX, MECP2, FLNA
20mecp2 duplication syndrome29.2MECP2
21leukemia10.9
22prostatitis10.9
23hepatitis10.9
24prostate cancer10.9
25pancreatitis10.8
26squamous cell carcinoma10.8
27lung cancer10.8
28obesity10.8
29adenocarcinoma10.8
30colorectal cancer10.8
31melanoma10.8
32hypertension10.8
33acute leukemia10.8
34arthritis10.7
35alzheimer's disease10.7
36hepatocellular carcinoma10.7
37esophagitis10.7
38rheumatoid arthritis10.7
39ovarian cancer10.7
40myeloid leukemia10.7
41cervicitis10.6
42hepatitis c10.6
43neuroblastoma10.6
44colon cancer10.6
45myocardial infarction10.6
46asthma10.6
47hepatitis a10.6
48coronary artery disease10.6
49pancreatic cancer10.6
50myeloma10.6

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



Diseases related to west syndrome

Clinical Features for West Syndrome

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Drugs & Therapeutics for West Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for West Syndrome

Drug clinical trials:

Search ClinicalTrials for West Syndrome

Search NIH Clinical Center for West Syndrome

Search CenterWatch for West Syndrome

Inferred drug relations via UMLS60/NDF-RT40:

Genetic Tests for West Syndrome

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22GTR
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Genetic tests related to West Syndrome:

id Genetic test Affiliating Genes
1 West Syndrome22

Anatomical Context for West Syndrome

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32MalaCards
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MalaCards organs/tissues related to West Syndrome:

32
Brain, Testes, T cells, Heart, Ovary, Eye, Temporal lobe, Occipital lobe

Animal Models for West Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to West Syndrome:

36 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.5IDUA, FOXG1, RDX, MECP2, SLC1A3
2MP:00053829.2IDUA, FOXG1, PHGDH, MECP2, FLNA, PTCH1
3MP:00053919.1PTCH1, SLC1A3, FLNA, MECP2, FOXG1, IDUA
4MP:00107719.1IDUA, FOXG1, ARX, MECP2, POMC, PTCH1
5MP:00053698.8PVALB, IDUA, FOXG1, ARX, PTCH1, TPH1
6MP:00028738.8PVALB, FOXG1, ARX, MECP2, FLNA, PTCH1
7MP:00053788.6ARX, PHGDH, FOXG1, IDUA, MECP2, FLNA
8MP:00053768.6PHGDH, RDX, FOXG1, IDUA, ARX, MECP2
9MP:00053848.5PVALB, IDUA, FOXG1, PHGDH, ARX, MECP2
10MP:00107688.4IDUA, FOXG1, PHGDH, ARX, STXBP1, MECP2
11MP:00053868.1ARX, RDX, FOXG1, IDUA, PVALB, MECP2
12MP:00036317.7SPTAN1, PVALB, IDUA, FOXG1, RDX, PHGDH

Publications for West Syndrome

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50PubMed
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Articles related to West Syndrome:

(show top 50)    (show all 361)
idTitleAuthorsYear
1
Whole-exome sequencing identifies a variant of the mitochondrial MT-ND1 gene associated with epileptic encephalopathy: west syndrome evolving to Lennox-Gastaut syndrome. (24105702)
2013
2
Infantile spasms syndrome, West syndrome and related phenotypes: What we know in 2013. (24268986)
2013
3
Prevalence of Beckwith-Wiedemann syndrome in North West of Italy. (23918458)
2013
4
Cryptogenic West syndrome and subsequent mesial temporal lobe epilepsy. (22940111)
2012
5
Long-term developmental outcome in patients with West syndrome after epilepsy surgery. (22336751)
2012
6
West syndrome, can topiramate be on top? (21206445)
2011
7
West syndrome: early remission is not assurance of normal final outcome. (20637023)
2011
8
Short term outcomes of topiramate monotherapy as a first-line treatment in newly diagnosed West syndrome. (22232631)
2011
9
The Guillain-BarrAc syndrome at two hospitals in Trinidad, West Indies: a review of 26 patients. (21473398)
2010
10
Clinical study of West syndrome with PS and late-onset epileptic spasms. (19939629)
2010
11
Multicenter long-term follow-up of children with idiopathic West syndrome: ACTH versus vigabatrin. (19348622)
2009
12
Reduced levels of interleukin-1 receptor antagonist in the cerebrospinal fluid in patients with West syndrome. (19375283)
2009
13
Neurodevelopmental evolution of West syndrome: a 2-year prospective study. (18063397)
2008
14
Focal epileptic spasms, involving one leg, manifesting during the clinical course of west syndrome (WS). (17681691)
2008
15
Delayed myelination at the onset of cryptogenic West syndrome. (18021923)
2007
16
Cardiac vagal activation by adrenocorticotropic hormone treatment in infants with West syndrome. (17287597)
2007
17
West syndrome in an infant with vitamin B12 deficiency in the absence of macrocytic anaemia. (17880648)
2007
18
Current treatment of West syndrome in Japan. (17690062)
2007
19
New mutation of the PTCH gene in nevoid basal-cell carcinoma syndrome with West syndrome. (17950424)
2007
20
Developmental outcomes of cryptogenic West syndrome. (17307550)
2007
21
Short-term trial of a liquid ketogenic milk to infants with West syndrome. (16168592)
2006
22
Mutation in filamin A causes periventricular heterotopia, developmental regression, and West syndrome in males. (16417552)
2006
23
Extremely low-dose ACTH step-up protocol for West syndrome: maximum therapeutic effect with minimal side effects. (15925463)
2006
24
ACTH therapy for Taiwanese children with West syndrome -- efficacy and impact on long-term prognosis. (16466880)
2006
25
Comparison of two low dose ACTH therapies for West syndrome: their efficacy and side effect. (16023546)
2005
26
Combined treatment with vigabatrin and topiramate in West syndrome. (15224711)
2004
27
Remission of West syndrome associated with valproate hepatotoxicity. (12015170)
2002
28
Infantile spasms: West syndrome. (11843708)
2002
29
Low-dose lamotrigine in West syndrome. (12350395)
2002
30
Early epileptic encephalopathies including West syndrome: a 3-year retrospective study from Klang Hospital, Malaysia. (11701263)
2001
31
West syndrome--The University of Hong Kong experience (1970-2000). (11701265)
2001
32
Clinical and pedigree study on familial cases of West syndrome in Japan. (11701255)
2001
33
Sick sinus syndrome in nine West Highland white terriers. (11271916)
2001
34
Clinico-electrical evolution in pre-hypsarrhythmic stage: towards prediction and prevention of West syndrome. (11701242)
2001
35
West syndrome: the Philippine experience. (11701266)
2001
36
Circadian changes of heart rate in West syndrome. (10908132)
2000
37
Concomitant administration of sodium dichloroacetate and thiamine in west syndrome caused by thiamine-responsive pyruvate dehydrogenase complex deficiency. (10567050)
1999
38
A comparative study of high-dose and low-dose ACTH therapy for West syndrome. (10522523)
1999
39
West syndrome and its related epileptic syndromes. (9737442)
1998
40
Heterogeneity of ictal SPECT findings in nine cases of West syndrome. (9737441)
1998
41
West syndrome: cerebrospinal fluid nerve growth factor and effect of ACTH. (9390698)
1997
42
A simple, effective and well-tolerated treatment regime for West syndrome. (7926318)
1994
43
Asymmetric hypsarrhythmia and infantile spasms in west syndrome. (7930409)
1994
44
Visual abnormalities and occipital EEG discharges: risk factors for West syndrome. (8082626)
1994
45
Low levels of CSF gangliotetraose-series gangliosides in West syndrome: implication of brain maturation disturbance. (8216542)
1993
46
Value of magnetic resonance imaging in West syndrome of unknown etiology. (8330581)
1993
47
Cholinergic system disturbance in the West syndrome. (2092590)
1990
48
Development of West syndrome in a patient with Reye syndrome: a case study. (2706794)
1989
49
Morphological aspects of aetiology and the course of infantile spasms (West-syndrome). (3925364)
1985
50
Infantile spasms (West syndrome) in two children. (5855337)
1965

Genetic Variations for West Syndrome

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Expression for genes affiliated with West Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with West Syndrome

Search GEO for disease gene expression data for West Syndrome.

Pathways for genes affiliated with West Syndrome

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4Cell Signaling Technology
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Pathways related to West Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6TPH1, SLC1A3, MECP2, STXBP1

Compounds for genes affiliated with West Syndrome

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44Novoseek, 28IUPHAR, 11DrugBank
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Compounds related to West Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1maoa4410.0TPH1, POMC
2ether4410.0POMC, PVALB
3fenfluramine28 44 1111.8TPH1, POMC
4gaba449.2TPH1, SLC1A3, POMC, MECP2, ARX, PVALB
5glutamate449.0PVALB, STXBP1, MECP2, SLC1A3, SPTAN1, TPH1
6serine448.8PVALB, RDX, PHGDH, FLNA, POMC, SLC1A3

GO Terms for genes affiliated with West Syndrome

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16Gene Ontology
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Biological processes related to West Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1actin filament cappingGO:05169310.0SPTAN1, RDX
2limb morphogenesisGO:0351089.9PTCH1, IDUA
3glutamine metabolic processGO:0065419.7MECP2, PHGDH

Molecular functions related to West Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1Rac GTPase bindingGO:04836510.1CDKL5, FLNA
2L-glutamate transmembrane transporter activityGO:0053139.7SLC1A3, SLC25A22

Products for genes affiliated with West Syndrome

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Sources for West Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet