IS
MCID: WST001
MIFTS: 62

West Syndrome (IS) malady

Rare diseases, Neuronal diseases categories

Summaries for West Syndrome

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44NIH Rare Diseases, 45NINDS, 66Wikipedia, 34MalaCards
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NINDS:45 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 infantile epileptic encephalopathy and aicardi syndrome. An important gene associated with West Syndrome is CDKL5 (cyclin-dependent kinase-like 5), and among its related pathways are Proteoglycans in cancer and Neuroscience. The drug topiramate and the compounds maoa and fenfluramine have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and eye, and related mouse phenotypes are respiratory system and craniofacial.

NIH Rare Diseases:44 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:66 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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44NIH Rare Diseases, 9Disease Ontology, 45NINDS, 22Genetics Home Reference, 23GTR, 63UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Neuronal diseases


Aliases & Descriptions:

west syndrome 9 44 45
x-linked infantile spasm syndrome 44 22 63
west's syndrome 44 23
tonic spasms with clustering, arrest of psychomotor development and hypsarrhythmia on eeg 44
infantile epileptic-dyskinetic encephalopathy 22
early infantile epileptic encephalopathy 22
x-linked infantile spasms 44
x-linked west syndrome 22
infantile spasms 63
infantile spasm 44
issx 22
is 44


External Ids:

Disease Ontology9 DOID:0050562

Related Diseases for West Syndrome

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18GeneCards, 19GeneDecks
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Diseases related to West Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 138)
idRelated DiseaseScoreTop Affiliating Genes
1infantile epileptic encephalopathy30.6ARX, CDKL5, MECP2, FLNA, POMC
2aicardi syndrome30.6FLNA, CDKL5
3ohtahara syndrome30.4STXBP1
4intellectual disability30.3CDKL5, MECP2, ARX
5early myoclonic encephalopathy30.2STXBP1
6hydranencephaly30.1STXBP1
7lissencephaly30.1ARX, FLNA
8rett syndrome30.1CDKL5, FOXG1, MECP2
9microcephaly29.9CDKL5, MECP2, FOXG1, PHGDH
10mental retardation29.7ARX, SLC1A3, RDX, CDKL5, TPH1, MECP2
11epileptic encephalopathy, early infantile, 1710.4
12cerebritis10.4
13dravet syndrome10.3
14epileptic encephalopathy, early infantile, 410.3
15epileptic encephalopathy, early infantile, 310.3
16malignant migrating partial seizures of infancy10.3
17myoclonus10.3
18epileptic encephalopathy, early infantile, 1810.3
19epileptic encephalopathy, early infantile, 2310.3
20lennox-gastaut syndrome10.2
21polymicrogyria10.2
22infantile spasms broad thumbs10.2
23pachygyria10.2
24tuberous sclerosis10.2
25periventricular leukomalacia10.2
26leukomalacia10.2
27alexander disease10.1
28biotinidase deficiency10.1
29choroiditis10.1
30encephalitis10.1
31septo-optic dysplasia10.1
32sturge-weber syndrome10.1
33weber syndrome10.1
34porencephaly10.1
35mecp2 duplication syndrome10.1MECP2
36seasonal affective disorder10.1TPH1
37neuroendocrine tumor10.1POMC
38gait apraxia10.1MECP2, CDKL5
39prion disease10.1PVALB, CDKL5, POMC
40borderline personality disorder10.1FLNA, TPH1
41panic disorder10.1POMC, TPH1
42addison's disease10.1TPH1, POMC
43brain disease10.1ARX, MECP2, CDKL5
44neonatal hypoxic and ischemic brain injury10.1PVALB, SLC1A3
45neuronitis10.0
46down syndrome10.0
47attention deficit hyperactivity disorder10.0TPH1, MECP2
48menkes disease10.0
49choroid plexus papilloma10.0
50histidinemia10.0

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



Diseases related to west syndrome

Symptoms for West Syndrome

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Drugs & Therapeutics for West Syndrome

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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 UMLS63/NDF-RT42:

Genetic Tests for West Syndrome

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23GTR
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Genetic tests related to West Syndrome:

id Genetic test Affiliating Genes
1 West Syndrome23

Anatomical Context for West Syndrome

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34MalaCards
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MalaCards organs/tissues related to West Syndrome:

34
Brain, Testes, Eye, Heart, T cells, Temporal lobe

Animal Models for West Syndrome or affiliated genes

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38MGI
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Publications for West Syndrome

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53PubMed
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Articles related to West Syndrome:

(show top 50)    (show all 320)
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
West syndrome followed by juvenile myoclonic epilepsy: a coincidental occurrence? (23705971)
2013
3
Possible induction of West syndrome by oxcarbazepine therapy in a patient with complex partial seizures. (22425652)
2012
4
Klinefelter's syndrome complicated with West syndrome in a 4-month-old boy. (21470806)
2012
5
Treatment of preterm infants with West syndrome: differences due to etiology. (22882769)
2012
6
A case of congenital axonal neuropathy associated with West syndrome. (21211919)
2011
7
Case report: Blue chromogenic dental staining in child with West syndrome. (21108922)
2010
8
Utility of subtraction ictal SPECT images in detecting focal leading activity and understanding the pathophysiology of spasms in patients with West syndrome. (19101121)
2009
9
Zonisamide in West syndrome: an open label study. (20045779)
2009
10
Drug-choice in management of West syndrome (infantile spasms): Early ACTH treatment may offer a better prognostic outcome. (17590279)
2008
11
Boy with seizures (West syndrome) and distal 7q duplication syndrome due to an unbalanced 7q;9p translocation. (18564498)
2008
12
Delayed myelination at the onset of cryptogenic West syndrome. (18021923)
2007
13
A case of Pallister-Killian syndrome associated with West syndrome. (17765815)
2007
14
Update of the medical treatment of West syndrome. (17519870)
2007
15
A new paradigm for West syndrome based on molecular and cell biology. (16806828)
2006
16
A plausible explanation for superiority of adreno-cortico-trophic hormone (ACTH) over oral corticosteroids in management of infantile spasms (West syndrome). (16781824)
2006
17
Popliteal angle in infants with west syndrome. (17005110)
2006
18
Short-duration ACTH therapy for cryptogenic West syndrome with better outcome. (17138011)
2006
19
Dynamic cortical activity during spasms in three patients with West syndrome: a multichannel near-infrared spectroscopic topography study. (15461679)
2004
20
A study of spike-density on EEG in West syndrome. (15036429)
2004
21
Infantile epileptic encephalopathy with hypsarrhythmia (infantile spasms/West syndrome). (14734931)
2003
22
Short-term nonhormonal and nonsteroid treatment in West syndrome. (12887441)
2003
23
Schinzel-Giedion syndrome: a further cause of West syndrome. (12767465)
2003
24
Long-term response to zonisamide in patients with West syndrome. (12034801)
2002
25
West syndrome--new therapeutic approach]. (15637997)
2001
26
Early epileptic encephalopathies including West syndrome: a 3-year retrospective study from Klang Hospital, Malaysia. (11701263)
2001
27
Epidemiological and clinical studies of West syndrome in Nagasaki Prefecture, Japan. (11701258)
2001
28
Epidemiology of West syndrome in Singapore. (11701260)
2001
29
Spontaneous remission of spasms in West syndrome--implications of viral infection. (11701282)
2001
30
Long-term prognosis of patients with West syndrome in Japan: medical aspects. (11701279)
2001
31
West & son: the origins of West syndrome. (11701237)
2001
32
Long-term follow-up study of West syndrome associated with tuberous sclerosis. (11701281)
2001
33
West syndrome in Thailand: a hospital-based survey. (11701264)
2001
34
Subdural hematoma during low-dose ACTH therapy in patients with west syndrome. (10881271)
2000
35
West syndrome in tuberous sclerosis complex. (11033286)
2000
36
How should patients with porencephaly and generalized seizures such as West syndrome be treated? (10598061)
1999
37
Cerebrospinal fluid somatostatin in West syndrome: changes in response to combined treatment with high-dose pyridoxal phosphate and low-dose corticotropin. (9920458)
1998
38
Evolutional changes and outcome of West syndrome: correlation with magnetic resonance imaging findings. (9737445)
1998
39
West syndrome and its related epileptic syndromes. (9737442)
1998
40
Antiepileptic drug treatment of West syndrome. (9737443)
1998
41
Liposteroid (dexamethasone palmitate) therapy for West syndrome: a comparative study with ACTH therapy. (9650682)
1998
42
West syndrome: cerebrospinal fluid nerve growth factor and effect of ACTH. (9390698)
1997
43
CSF ACTH and beta-endorphin in infants with West syndrome and ACTH therapy. (9253486)
1997
44
Partial seizures in West syndrome. (8917055)
1996
45
Seizures-in-series observed in symptomatic generalized epilepsy other than West syndrome. (8612183)
1995
46
A simple, effective and well-tolerated treatment regime for West syndrome. (7926318)
1994
47
Delayed myelination in children with West syndrome: an MRI-study. (7969793)
1994
48
Asymmetric hypsarrhythmia and infantile spasms in west syndrome. (7930409)
1994
49
Cholinergic system disturbance in the West syndrome. (2092590)
1990
50
West syndrome evolving into the Lennox-Gastaut syndrome. (6697547)
1984

Variations for West Syndrome

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Expression for genes affiliated with West Syndrome

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2BioGPS, 16Gene 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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51PathCards, 31KEGG, 5Cell Signaling Technology, 39NCBI BioSystems Database
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Pathways related to West Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5RDX, PTCH1, FLNA
29.3SLC1A3, TPH1, STXBP1, MECP2
39.1TPH1, MECP2, IL1RN, SLC1A3

Compounds for genes affiliated with West Syndrome

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46Novoseek, 30IUPHAR, 12DrugBank, 62Tocris Bioscience, 52PharmGKB, 25HMDB
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Compounds related to West Syndrome according to GeneCards/GeneDecks:

(show all 17)
idCompoundScoreTop Affiliating Genes
1maoa4610.2POMC, TPH1
2fenfluramine46 30 1212.2POMC, TPH1
3tsst4610.1IL1RN, POMC
4metyrapone46 62 1211.9POMC, TPH1
5ether46 5210.4PVALB, POMC
6dopamine46 30 25 1212.1TPH1, POMC, FLNA, PVALB
7formaldehyde46 2510.1IL1RN, PVALB, POMC
8kainate46 3010.1PVALB, IL1RN, SLC1A3
9polyacrylamide469.0IL1RN, PVALB, TPH1
10methionine468.9IL1RN, MECP2, PVALB, TPH1
11alanine468.9POMC, FLNA, MECP2, IL1RN, SLC1A3, ARX
12gaba468.6ARX, SLC1A3, MECP2, PVALB, POMC, TPH1
13estrogen468.5TPH1, POMC, PVALB, IL1RN, RDX
14zinc46 259.5PTCH1, PVALB, MECP2, IL1RN, RDX
15glutamate468.1SPTAN1, TPH1, PVALB, STXBP1, MECP2, IL1RN
16serine467.8SPTAN1, POMC, FLNA, PVALB, IL1RN, PHGDH
17tyrosine467.7PTCH1, TPH1, FLNA, PVALB, IL1RN, RDX

GO Terms for genes affiliated with West Syndrome

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17Gene Ontology
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Cellular components related to West Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1dendritic growth coneGO:0442949.9CDKL5, PTCH1
2cytosolGO:0058298.4SPTAN1, TLE1, TPH1, FLNA, STXBP1, MECP2
3extracellular vesicular exosomeGO:0700628.3FLNA, STXBP1, IL1RN, PHGDH, RDX, SPTAN1

Biological processes related to West Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1glutamine metabolic processGO:0065419.9PHGDH, MECP2
2dorsal/ventral pattern formationGO:0099539.9FOXG1, PTCH1
3actin filament cappingGO:0516939.9RDX, SPTAN1
4regulation of mitotic cell cycleGO:0073469.8PTCH1, FOXG1
5brain developmentGO:0074209.4PHGDH, FOXG1, PTCH1

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

idNameGO IDScoreTop Affiliating Genes
1Rac GTPase bindingGO:04836510.0CDKL5, FLNA

Products for genes affiliated with West Syndrome

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Sources for West Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet