IS
MCID: WST001
MIFTS: 64

West Syndrome (IS) malady

Ear category

Summaries for West Syndrome

Sources:
43NIH Rare Diseases, 44NINDS, 21Genetics Home Reference, 64Wikipedia, 33MalaCards
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NINDS:44 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 aicardi syndrome and infantile epileptic encephalopathy. 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 bone marrow, whole blood and brain, and related mouse phenotypes are hearing/vestibular/ear and craniofacial.

NIH Rare Diseases:43 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

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.

Wikipedia:64 Epileptic spasms, infantile spasms, juvenile spasms, West syndrome or West\'s syndrome is an uncommon to... more...

Aliases & Classifications for West Syndrome

Sources:
8Disease Ontology, 43NIH Rare Diseases, 44NINDS, 21Genetics Home Reference, 22GTR, 61UMLS
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Classifications:

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


Aliases & Descriptions:

west syndrome 8 43 44
x-linked infantile spasm syndrome 43 21 61
west's syndrome 43 22
tonic spasms with clustering, arrest of psychomotor development and hypsarrhythmia on eeg 43
infantile epileptic-dyskinetic encephalopathy 21
early infantile epileptic encephalopathy 21
x-linked west syndrome 21
infantile spasms 61
infantile spasm 43
issx 21
is 43


External Ids:

Disease Ontology8 DOID:0050562

Related Diseases for West Syndrome

Sources:
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 7132)
idRelated DiseaseScoreTop Affiliating Genes
1aicardi syndrome30.5FLNA, CDKL5
2infantile epileptic encephalopathy30.3ARX, MECP2, FLNA, POMC, CDKL5
3xeroderma pigmentosum30.3PTCH1
4early myoclonic encephalopathy30.2CDKL5, ARX
5ohtahara syndrome30.2SLC25A22, PNKP, STXBP1
6apraxia30.1PNKP
7seasonal affective disorder30.0TPH1
8hydranencephaly29.9STXBP1
9rett syndrome29.9CDKL5, MECP2, FOXG1
10brain disease29.9ARX, MECP2, CDKL5
11microcephaly29.8FOXG1, PHGDH, MECP2, CDKL5
12mental retardation29.8TPH1, IDUA, RDX, ARX, MECP2, FLNA
13gait apraxia29.4CDKL5, MECP2
14mecp2 duplication syndrome29.2MECP2
15squamous cell carcinoma10.8
16adenocarcinoma10.8
17colorectal cancer10.8
18acute leukemia10.8
19arthritis10.8
20hypoxia10.7
21insulin resistance10.7
22hepatitis c10.7
23asthma10.7
24hepatitis a10.7
25n syndrome10.6
26coronary artery disease,10.6
27t-cell leukemia10.6
28acute myeloid leukemia10.6
29atherosclerosis10.6
30alzheimer's disease10.6
31adenoma10.6
32hepatitis c virus10.6
33systemic lupus erythematosus10.6
34hepatitis d10.5
35hepatitis e10.5
36tuberculosis10.5
37cystic fibrosis10.5
38oral squamous cell carcinoma10.5
39esophageal squamous cell carcinoma10.5
40ataxia10.5
41parkinson's disease10.5
42sepsis10.5
43polycystic ovary syndrome10.5
44amyotrophic lateral sclerosis10.5
45papillary carcinoma10.4
46ulcerative colitis10.4
47acute myocardial infarction10.4
48epileptic encephalopathy, early infantile, 1710.4
49early infantile epileptic encephalopathy without suppression burst10.4
50lateral sclerosis10.4

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



Diseases related to west syndrome

Clinical Features for West Syndrome

Drugs & Therapeutics for West Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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 UMLS61/NDF-RT41:

Genetic Tests for West Syndrome

Sources:
22GTR
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Genetic tests related to West Syndrome:

id Genetic test Affiliating Genes
1 West Syndrome22

Anatomical Context for West Syndrome

Sources:
33MalaCards
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MalaCards organs/tissues related to West Syndrome:

33
Bone marrow, Whole blood, Brain, Heart, Ovary, T cells, B cells, Fetal brain, Temporal lobe, Occipital lobe

Animal Models for West Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for West Syndrome

Sources:
51PubMed
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Articles related to West Syndrome:

(show top 50)    (show all 410)
idTitleAuthorsYear
1
Burden of fetal alcohol syndrome in a rural West Coast area of South Africa. (23725961)
2013
2
NPHS2 gene in steroid-resistant nephrotic syndrome: prevalence, clinical course, and mutational spectrum in South-West Iranian children. (24072147)
2013
3
Severe intellectual disability, West syndrome, Dandy-Walker malformation, and syndactyly in a patient with partial tetrasomy 17q25.3. (24039006)
2013
4
The incidence of myelodysplastic syndromes in Western Greece is increasing. (23572136)
2013
5
Prevalence of lipodystrophy and metabolic syndrome among HIV positive individuals on Highly Active Anti-Retroviral treatment in Jimma, South West Ethiopia. (23330034)
2012
6
A case of congenital axonal neuropathy associated with West syndrome. (21211919)
2011
7
West syndrome associated with 14q12 duplications harboring FOXG1. (21536641)
2011
8
Over-stimulation of insulin/IGF-1 signaling by western diet may promote diseases of civilization: lessons learnt from laron syndrome. (21699736)
2011
9
Interictal cerebral blood flow abnormality in cryptogenic West syndrome. (20132286)
2010
10
Two female siblings with West syndrome: Familial idiopathic West syndrome with genetic susceptibility and variable phenotypic expression. (21559165)
2010
11
Oral findings and dental treatment in a child with West syndrome. (19886939)
2009
12
Factors influencing the evolution of West syndrome to Lennox-Gastaut syndrome. (19589458)
2009
13
Early onset West syndrome with cerebral hypomyelination and reduced cerebral white matter. (18065176)
2008
14
A case of Kabuki syndrome presenting West syndrome. (17174498)
2007
15
Quantitative Western blot analysis of plasma ADAMTS13 antigen in patients with Upshaw-Schulman syndrome. (17030346)
2007
16
Popliteal angle in infants with west syndrome. (17005110)
2006
17
ACTH therapy for Taiwanese children with West syndrome -- efficacy and impact on long-term prognosis. (16466880)
2006
18
Familial West syndrome and dystonia caused by an Aristaless related homeobox gene mutation. (15726411)
2005
19
Combined treatment with vigabatrin and topiramate in West syndrome. (15224711)
2004
20
Poliomyelitis-like syndrome in a child with West Nile virus infection. (15295236)
2004
21
Stiff-person syndrome following West Nile fever. (15210535)
2004
22
West syndrome--new therapeutic approach]. (15637997)
2001
23
Epidemiology of West syndrome in Singapore. (11701260)
2001
24
West & son: the origins of West syndrome. (11701237)
2001
25
Long-term outcome of patients with West syndrome. (11701277)
2001
26
National survey of West syndrome in Taiwan. (11701257)
2001
27
How do the many etiologies of West syndrome lead to excitability and seizures? The corticotropin releasing hormone excess hypothesis. (11701250)
2001
28
Neuropathology of the limbic system and brainstem in West syndrome. (11701247)
2001
29
What are the reasons for the strikingly different approaches to the use of ACTH in infants with West syndrome? (11701270)
2001
30
West Syndrome and other Infantile Epileptic Encephalopathies. Proceedings of an International Symposium. Tokyo, Japan, February 9-11, 2001. (11852852)
2001
31
Subdural hematoma during low-dose ACTH therapy in patients with west syndrome. (10881271)
2000
32
Epidemiology of fetal alcohol syndrome in a South African community in the Western Cape Province. (11111264)
2000
33
3-phosphoglycerate dehydrogenase deficiency in a patient with West syndrome. (11034457)
2000
34
Confirmation of linkage in X-linked infantile spasms (West syndrome) and refinement of the disease locus to Xp21.3-Xp22.1. (10334471)
1999
35
Vigabatrin as a first-line drug in West syndrome: clinical and electroencephalographic outcome. (9706623)
1998
36
Multiple macrodonts with odontoma in a mother and son--a variant of Ekman-Westborg-Julin syndrome. Report of a case. (9540087)
1998
37
Cortical hypoperfusion in symptomatic West syndrome. A SPECT study. (9248793)
1997
38
Periventricular leukomalacia and West syndrome. (8606011)
1996
39
West syndrome: individualized ACTH therapy. (8980843)
1996
40
Long-term otucome of West syndrome: a study of adults with a history of infantile spasms. (8603642)
1996
41
Delayed myelination in children with West syndrome: an MRI-study. (7969793)
1994
42
West syndrome associated with porencephaly. (7803308)
1994
43
Hypomelanosis of Ito associated with West syndrome: report of a case. (7920084)
1994
44
Tubular inclusions in macrophages in the brain of a patient with acute hemorrhagic leukoencephalitis (Weston-Hurst syndrome). (8191625)
1994
45
Low levels of CSF gangliotetraose-series gangliosides in West syndrome: implication of brain maturation disturbance. (8216542)
1993
46
Laboratory findings in patients with hemorrhagic fever with renal syndrome in western Russia. (7907582)
1993
47
Study of regional cerebral blood flow in West syndrome. (8330582)
1993
48
Computerized tomography of brain in infantile spasms (West syndrome). (2287551)
1990
49
Computerized cranial transverse axial tomography (CTAT) in 145 patients with primary and secondary generalized epilepsies. West syndrome, myoclonic-astatic petit mal, absence epilepsy. (107475)
1979
50
Long-term prognosis of 150 cases of "West syndrome". (4515986)
1973

Genetic Variations for West Syndrome

Expression for genes affiliated with West Syndrome

Sources:
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

Sources:
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

Sources:
45Novoseek, 29IUPHAR, 11DrugBank
See all sources

Compounds related to West Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1maoa4510.0TPH1, POMC
2ether4510.0POMC, PVALB
3fenfluramine29 45 1111.8TPH1, POMC
4gaba459.2TPH1, SLC1A3, POMC, MECP2, ARX, PVALB
5glutamate459.0PVALB, STXBP1, MECP2, SLC1A3, SPTAN1, TPH1
6serine458.8PVALB, RDX, PHGDH, FLNA, POMC, SLC1A3

GO Terms for genes affiliated with West Syndrome

Sources:
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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  • Proteins
  • Lysates
  • Antibodies

Sources for West Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet