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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Sources:
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, Eye, Ovary, 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
Effects of apolipoprotein E genotypes on metabolic profile and oxidative stress in south-west Chinese women with polycystic ovary syndrome. (23746632)
2013
2
Occipital lobe epilepsy secondary to posterior reversible encephalopathy syndrome (PRES) during a post-partum eclampsia in Mali (West Africa). (23941365)
2013
3
Adrenocorticotropic hormone for the treatment of West Syndrome in children. (23606552)
2013
4
Epilepsy and West syndrome in neonates with hypoxic-ischemic encephalopathy. (24274080)
2013
5
Treatment of preterm infants with West syndrome: differences due to etiology. (22882769)
2012
6
Ictal high-frequency oscillations on scalp EEG recordings in symptomatic West syndrome. (22647843)
2012
7
Surgical treatment for epilepsy in 17 children with tuberous sclerosis-related West syndrome. (22459639)
2012
8
Iatrogenic diabetes mellitus during ACTH therapy in an infant with West syndrome. (21253781)
2011
9
The underlying etiology of infantile spasms (West syndrome): information from the United Kingdom Infantile Spasms Study (UKISS) on contemporary causes and their classification. (20726878)
2010
10
Cerebral and ocular congenital toxoplasmosis complicated by West syndrome. (20714363)
2010
11
Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay. (20493457)
2010
12
Zonisamide in West syndrome: an open label study. (20045779)
2009
13
Outcome in West syndrome. (18695274)
2008
14
Extremely low preanesthetic BIS values in two children with West syndrome and lissencephaly. (18384340)
2008
15
A case of Pallister-Killian syndrome associated with West syndrome. (17765815)
2007
16
Update of the medical treatment of West syndrome. (17519870)
2007
17
ICTAL EEG fast activity in West syndrome: from onset to outcome. (17825076)
2007
18
Electroencephalographic changes before the onset of symptomatic West syndrome. (17555900)
2007
19
West syndrome in a patient with balanced translocation t(X;18)(p22;p11.2). (17628226)
2007
20
A plausible explanation for superiority of adreno-cortico-trophic hormone (ACTH) over oral corticosteroids in management of infantile spasms (West syndrome). (16781824)
2006
21
A comparison of seizure outcome after callosotomy in patients with Lennox-Gastaut syndrome and a positive or negative history for West syndrome. (16884930)
2006
22
Auditory attention at the onset of West syndrome: correlation with EEG patterns and visual function. (16481138)
2006
23
Zonisamide for West syndrome: a comparison of clinical responses among different titration rate. (15862192)
2005
24
Stiff-person syndrome following West Nile fever. (15210535)
2004
25
A proposal for case definitions and outcome measures in studies of infantile spasms and West syndrome: consensus statement of the West Delphi group. (15509243)
2004
26
Leigh syndrome associated with West syndrome. (12767455)
2003
27
West syndrome and mitochondrial diabetes: relationship or coincidence? (12100084)
2002
28
Low-dose ACTH therapy for West syndrome: initial effects and long-term outcome. (11781414)
2002
29
West & son: the origins of West syndrome. (11701237)
2001
30
Magnetoencephalography in the detection of focal lesions in West syndrome. (11701249)
2001
31
Neuroradiological assessment of brain structure and function and its implication in the pathogenesis of West syndrome. (11701243)
2001
32
Mechanism of tonic spasms in West syndrome viewed from ictal SPECT findings. (11701244)
2001
33
Surgical treatment of West syndrome. (11701275)
2001
34
Investigation of postanginal sepsis and Lemierre's syndrome in the South West Peninsula. (12109395)
2001
35
Familial idiopathic West syndrome. (10805192)
2000
36
Sotos syndrome associated with West syndrome and a visual disorder. (10453192)
1999
37
Long-term follow-up study of vigabatrin in pretreated children with West syndrome. (9733404)
1998
38
West syndrome: etiological and prognostic aspects. (9533552)
1998
39
Pyridoxine--responsive West syndrome and gamma-aminobutyric acid. (9039527)
1997
40
Medical treatment of West syndrome in Japan. (7782606)
1995
41
Delayed myelination in children with West syndrome: an MRI-study. (7969793)
1994
42
Neurofibromatosis type one and West syndrome: a relatively benign association. (8392464)
1993
43
Polysomnographical study in the patients with West syndrome before treatment. (1434178)
1992
44
Outcome for West syndrome following surgical treatment. (1915174)
1991
45
Induced microseizures in West syndrome. (1656808)
1991
46
Hemorrhagic fever with renal syndrome imported to Hawaii from West Germany. (1974384)
1990
47
Intracranial tumors and West syndrome. (2553029)
1989
48
Preliminary report of a multi-center study on the West syndrome. (3064626)
1988
49
Immunoglobulin therapy in the West syndrome. (3124656)
1987
50
Medical grand rounds from the West Virginia University Hospital: Empty sella syndrome. (276984)
1978

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