IS
MCID: WST001
MIFTS: 71

West Syndrome (IS) malady

Genetic diseases, Rare diseases, Neuronal diseases categories
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Summaries for West Syndrome

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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 based summary: West Syndrome, also known as epileptic encephalopathy, early infantile, 1, is related to aicardi syndrome and ohtahara syndrome, and has symptoms including hypertonia/spasticity/rigidity/stiffness, hemiplegia/diplegia/hemiparesia/limb palsy and seizures/epilepsy/absences/spasms/status epilepticus. An important gene associated with West Syndrome is ARX (aristaless related homeobox), 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 temporal lobe, and related mouse phenotypes are respiratory system 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:65 Epileptic spasms, infantile spasms, juvenile spasms, West syndrome or West\'s syndrome is an... more...

Description from OMIM:46 308350

Aliases & Classifications for West Syndrome

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West Syndrome, Aliases & Descriptions:

Name: West Syndrome 32 8 42 43
Epileptic Encephalopathy, Early Infantile, 1 32 9 20 46
Infantile Epileptic-Dyskinetic Encephalopathy 21 48 62
X-Linked Infantile Spasm Syndrome 42 21 62
Early Infantile Epileptic Encephalopathy 21 62
X-Linked Infantile Spasms 42 62
X-Linked West Syndrome 21 62
 
Infantile Spasm 42 62
West's Syndrome 42 22
Tonic Spasms with Clustering, Arrest of Psychomotor Development and Hypsarrhythmia on Eeg 42
Spasticity - Intellectual Disability - X-Linked Epilepsy 48
Infantile Spasms 62
Issx 21
is 42


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
spasticity - intellectual disability - x-linked epilepsy:
Inheritance: X-linked recessive; Prevalence: <1/1000000
infantile epileptic-dyskinetic encephalopathy:
Inheritance: X-linked recessive; Age of onset: Neonatal/infancy


External Ids:

Disease Ontology8 DOID:0050562
OMIM46 308350

Related Diseases for West Syndrome

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

(show top 50)    (show all 142)
idRelated DiseaseScoreTop Affiliating Genes
1aicardi syndrome31.1FLNA, CDKL5
2ohtahara syndrome30.9STXBP1
3early myoclonic encephalopathy30.7STXBP1
4infantile epileptic encephalopathy30.7ARX, CDKL5, MECP2, FLNA, POMC
5hydranencephaly30.6STXBP1
6rett syndrome30.4CDKL5, FOXG1, MECP2
7lissencephaly30.2ARX, FLNA
8microcephaly30.1CDKL5, MECP2, FOXG1, PHGDH
9epilepsy syndrome29.9PVALB, CDKL5, FLNA, TPH1, MECP2, ARX
10mental retardation29.3ARX, SLC1A3, RDX, CDKL5, TPH1, MECP2
11mecp2 duplication syndrome10.4MECP2
12cerebritis10.4
13seasonal affective disorder10.4TPH1
14neuroendocrine tumor10.4POMC
15gait apraxia10.3MECP2, CDKL5
16agenesis of the corpus callosum10.3
17dravet syndrome10.3
18microcephaly, seizures, and developmental delay10.3
19epileptic encephalopathy, early infantile, 310.3
20malignant migrating partial seizures of infancy10.3
21myoclonus10.3
22epileptic encephalopathy, early infantile, 1810.3
23prion disease10.3PVALB, CDKL5, POMC
24borderline personality disorder10.3FLNA, TPH1
25panic disorder10.3POMC, TPH1
26addison's disease10.3TPH1, POMC
27lennox-gastaut syndrome10.3
28encephalitis10.2
29infantile spasms broad thumbs10.2
30pachygyria10.2
31septo-optic dysplasia10.2
32brain disease10.2ARX, MECP2, CDKL5
33neonatal hypoxic and ischemic brain injury10.2PVALB, SLC1A3
34tuberous sclerosis10.2
35periventricular leukomalacia10.2
36leukomalacia10.2
37intellectual disability multi-gene panels10.2CDKL5, MECP2, ARX
38biotinidase deficiency10.2
39alexander disease10.2
40choroiditis10.2
41polymicrogyria10.2
42sturge-weber syndrome10.2
43weber syndrome10.2
44porencephaly10.1
45attention deficit hyperactivity disorder10.1TPH1, MECP2
46down syndrome10.1
47neuronitis10.1
48vitamin b12 deficiency10.1
49schinzel giedion syndrome10.1
50epileptic encephalopathy, early infantile, 210.1

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



Diseases related to west syndrome

Symptoms for West Syndrome

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Symptoms by clinical synopsis from OMIM:

308350

Clinical features from OMIM:

308350

Symptoms:

48
  • hypertonia/spasticity/rigidity/stiffness
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intellectual deficit/mental/psychomotor retardation/learning disability

HPO human phenotypes related to West Syndrome:

(show all 17)
id Description Frequency HPO Source Accession
1 seizures hallmark (90%) HP:0001250
2 hypertonia hallmark (90%) HP:0001276
3 hemiplegia/hemiparesis hallmark (90%) HP:0004374
4 cognitive impairment hallmark (90%) HP:0100543
5 microcephaly HP:0000252
6 intellectual disability HP:0001249
7 spasticity HP:0001257
8 choreoathetosis HP:0001266
9 dystonia HP:0001332
10 hyperreflexia HP:0001347
11 x-linked recessive inheritance HP:0001419
12 dysphagia HP:0002015
13 dyspnea HP:0002094
14 ventriculomegaly HP:0002119
15 generalized myoclonic seizures HP:0002123
16 hypsarrhythmia HP:0002521
17 muscular hypotonia of the trunk HP:0008936

Drugs & Therapeutics for West Syndrome

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Drug clinical trials:

Search ClinicalTrials for West Syndrome

Search NIH Clinical Center for West Syndrome

Inferred drug relations via UMLS62/NDF-RT40:

Genetic Tests for West Syndrome

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Genetic tests related to West Syndrome:

id Genetic test Affiliating Genes
1 Epileptic Encephalopathy, Early Infantile, 120 ARX
2 West Syndrome22

Anatomical Context for West Syndrome

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MalaCards organs/tissues related to West Syndrome:

32
Brain, Testes, Temporal lobe, Eye, Cortex, Heart, T cells

Animal Models for West Syndrome or affiliated genes

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Publications for West Syndrome

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Articles related to West Syndrome:

(show top 50)    (show all 339)
idTitleAuthorsYear
1
Temporal lobe impairment in West syndrome: Event-related potential evidence. (25363285)
2014
2
The efficacy of moderate-to-high dose oral prednisolone versus low-to-moderate dose intramuscular corticotropin for improvement of hypsarrhythmia in West syndrome: a randomized, single-blind, parallel clinical trial. (24938136)
2014
3
Predictive value of EEG findings at control of epileptic spasms for seizure relapse in patients with West syndrome. (24939523)
2014
4
Successful treatment for West syndrome with severe combined immunodeficiency. (24534054)
2014
5
Ketosis and EEG improvement following viral gastroenteritis in patient with West syndrome. (24479997)
2014
6
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
7
West syndrome followed by juvenile myoclonic epilepsy: a coincidental occurrence? (23705971)
2013
8
Possible induction of West syndrome by oxcarbazepine therapy in a patient with complex partial seizures. (22425652)
2012
9
Klinefelter's syndrome complicated with West syndrome in a 4-month-old boy. (21470806)
2012
10
Treatment of preterm infants with West syndrome: differences due to etiology. (22882769)
2012
11
A case of congenital axonal neuropathy associated with West syndrome. (21211919)
2011
12
Case report: Blue chromogenic dental staining in child with West syndrome. (21108922)
2010
13
Utility of subtraction ictal SPECT images in detecting focal leading activity and understanding the pathophysiology of spasms in patients with West syndrome. (19101121)
2009
14
Zonisamide in West syndrome: an open label study. (20045779)
2009
15
Drug-choice in management of West syndrome (infantile spasms): Early ACTH treatment may offer a better prognostic outcome. (17590279)
2008
16
Boy with seizures (West syndrome) and distal 7q duplication syndrome due to an unbalanced 7q;9p translocation. (18564498)
2008
17
Delayed myelination at the onset of cryptogenic West syndrome. (18021923)
2007
18
A case of Pallister-Killian syndrome associated with West syndrome. (17765815)
2007
19
Update of the medical treatment of West syndrome. (17519870)
2007
20
A new paradigm for West syndrome based on molecular and cell biology. (16806828)
2006
21
A plausible explanation for superiority of adreno-cortico-trophic hormone (ACTH) over oral corticosteroids in management of infantile spasms (West syndrome). (16781824)
2006
22
Popliteal angle in infants with west syndrome. (17005110)
2006
23
Short-duration ACTH therapy for cryptogenic West syndrome with better outcome. (17138011)
2006
24
Dynamic cortical activity during spasms in three patients with West syndrome: a multichannel near-infrared spectroscopic topography study. (15461679)
2004
25
A study of spike-density on EEG in West syndrome. (15036429)
2004
26
Infantile epileptic encephalopathy with hypsarrhythmia (infantile spasms/West syndrome). (14734931)
2003
27
Long-term response to zonisamide in patients with West syndrome. (12034801)
2002
28
West syndrome--new therapeutic approach]. (15637997)
2001
29
Early epileptic encephalopathies including West syndrome: a 3-year retrospective study from Klang Hospital, Malaysia. (11701263)
2001
30
Epidemiological and clinical studies of West syndrome in Nagasaki Prefecture, Japan. (11701258)
2001
31
Epidemiology of West syndrome in Singapore. (11701260)
2001
32
Spontaneous remission of spasms in West syndrome--implications of viral infection. (11701282)
2001
33
Long-term prognosis of patients with West syndrome in Japan: medical aspects. (11701279)
2001
34
West &amp; son: the origins of West syndrome. (11701237)
2001
35
Long-term follow-up study of West syndrome associated with tuberous sclerosis. (11701281)
2001
36
Subdural hematoma during low-dose ACTH therapy in patients with west syndrome. (10881271)
2000
37
How should patients with porencephaly and generalized seizures such as West syndrome be treated? (10598061)
1999
38
Cerebrospinal fluid somatostatin in West syndrome: changes in response to combined treatment with high-dose pyridoxal phosphate and low-dose corticotropin. (9920458)
1998
39
Evolutional changes and outcome of West syndrome: correlation with magnetic resonance imaging findings. (9737445)
1998
40
West syndrome and its related epileptic syndromes. (9737442)
1998
41
Antiepileptic drug treatment of West syndrome. (9737443)
1998
42
Liposteroid (dexamethasone palmitate) therapy for West syndrome: a comparative study with ACTH therapy. (9650682)
1998
43
West syndrome: cerebrospinal fluid nerve growth factor and effect of ACTH. (9390698)
1997
44
CSF ACTH and beta-endorphin in infants with West syndrome and ACTH therapy. (9253486)
1997
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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UniProtKB/Swiss-Prot genetic disease variations for West Syndrome:

64
id Symbol AA change Variation ID SNP ID
1ARXp.Pro353LeuVAR_015180rs28936074

Clinvar genetic disease variations for West Syndrome:

6
id Gene Name Type Significance SNP ID Assembly Location
1ARXNM_139058.2(ARX)duplicationPathogenicrs387906493GRCh37Chr X, 25031660: 25031661
2ARXNM_139058.2(ARX): c.1058C> T (p.Pro353Leu)single nucleotide variantPathogenicrs104894743GRCh37Chr X, 25031054: 25031054
3ARXARX, 1,517-BP DELdeletionPathogenic
4ARXARX, 33-BP DUPduplicationPathogenic
5ARXARX, 1-BP DEL, 1465GdeletionPathogenic
6ARXNM_139058.2(ARX)duplicationPathogenicGRCh37Chr X, 25031651: 25031677
7ARXNM_139058.2(ARX): c.81C> G (p.Tyr27Ter)single nucleotide variantPathogenicrs398122854GRCh37Chr X, 25033774: 25033774
8ARXNM_139058.2(ARX): c.1604T> A (p.Leu535Gln)single nucleotide variantPathogenicrs387906715GRCh37Chr X, 25022872: 25022872

Expression for genes affiliated with West Syndrome

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Expression patterns in normal tissues for genes affiliated with West Syndrome

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Pathways for genes affiliated with West Syndrome

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Pathways related to West Syndrome according to GeneCards/GeneDecks:

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

Compounds for genes affiliated with West Syndrome

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Compounds related to West Syndrome according to GeneCards/GeneDecks:

(show all 17)
idCompoundScoreTop Affiliating Genes
1maoa4410.2POMC, TPH1
2fenfluramine44 28 1112.2POMC, TPH1
3tsst4410.1IL1RN, POMC
4metyrapone44 61 1111.9POMC, TPH1
5ether44 5010.4PVALB, POMC
6dopamine44 28 24 1112.1TPH1, POMC, FLNA, PVALB
7formaldehyde44 2410.1IL1RN, PVALB, POMC
8kainate44 2810.1PVALB, IL1RN, SLC1A3
9polyacrylamide449.0IL1RN, PVALB, TPH1
10alanine448.9POMC, FLNA, MECP2, IL1RN, SLC1A3, ARX
11methionine448.9IL1RN, MECP2, PVALB, TPH1
12gaba448.7ARX, SLC1A3, MECP2, PVALB, POMC, TPH1
13estrogen448.5TPH1, POMC, PVALB, IL1RN, RDX
14zinc44 249.5PTCH1, PVALB, MECP2, IL1RN, RDX
15glutamate448.1SPTAN1, TPH1, PVALB, STXBP1, MECP2, IL1RN
16serine447.8SPTAN1, POMC, FLNA, PVALB, IL1RN, PHGDH
17tyrosine447.7PTCH1, TPH1, FLNA, PVALB, IL1RN, RDX

GO Terms for genes affiliated with West Syndrome

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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:0058298.4TLE1, TPH1, FLNA, STXBP1, MECP2, PHGDH
3extracellular vesicular exosomeGO:0700628.3SPTAN1, FLNA, STXBP1, IL1RN, PHGDH, RDX

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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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet