WAS
MCID: WSK001
MIFTS: 78

Wiskott-Aldrich Syndrome (WAS) malady

Genetic diseases, Rare diseases, Immune diseases, Skin diseases, Blood diseases, Cancer diseases categories

Summaries for Wiskott-Aldrich Syndrome

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22Genetics Home Reference, 44NIH Rare Diseases, 66Wikipedia, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 Wiskott aldrich syndrome is a condition that affects blood cells and cells of the immune system.Ā it is seen almost exclusively in males. the condition is characterized by a tendency to bleed easily, development of an intensely itchy, scaling skin rash (eczema), andĀ severe recurrent infections. wiskott aldrich syndrome is caused by mutations in the was gene, which is located on the x chromosome. theĀ condition is inherited in an x-linked recessive pattern. the leading treatment option for wiskott aldrich syndromeĀ is bone marrow transplantation. alternative treatments may include surgery to remove the spleen and other more conservative measures such as antibiotics, ivig, and avoidance of foods which may cause allergic reactions. last updated: 10/27/2010

MalaCards: Wiskott-Aldrich Syndrome, also known as wiskott aldrich syndrome, is related to leukemia and thrombocytopenia, and has symptoms including vascularitis/vasculitides/arteritis, lung/pulmonary/alveolar hemorrhage/hematoma and hemorrhage/hemorrhagic syndrome/excessive/long-lasting bleeding. An important gene associated with Wiskott-Aldrich Syndrome is WAS (Wiskott-Aldrich syndrome), and among its related pathways are Translocation of ZAP-70 to Immunological synapse and Signaling by Robo receptor. The compounds wiskostatin and latex have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and skin, and related mouse phenotypes are digestive/alimentary and nervous system.

Genetics Home Reference:22 Wiskott-Aldrich syndrome is characterized by abnormal immune system function (immune deficiency) and a reduced ability to form blood clots. This condition primarily affects males.

Wikipedia:66 Wiskott?Aldrich syndrome (WAS) is a rare X-linked recessive disease characterized by eczema,... more...

Description from OMIM:48 301000,277970,600903,614493

Aliases & Classifications for Wiskott-Aldrich Syndrome

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Sources:
9Disease Ontology, 10diseasecard, 22Genetics Home Reference, 48OMIM, 11DISEASES, 46Novoseek, 50Orphanet, 32LifeMap Discoveryā„¢, 63UMLS, 44NIH Rare Diseases, 21GeneTests, 23GTR, 59SNOMED-CT, 41NCIt, 36MeSH, 28ICD9CM, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet, 37MESH via Orphanet, 26ICD10
See all sources

Classifications:



Characteristics (Orphanet epidemiological data):

50
wiskott-aldrich syndrome:
Inheritance: Autosomal dominant,Autosomal recessive,Sporadic,X-linked recessive; Prevalence: 1-9/1000000; Age of onset: Neonatal/infancy; Age of death: Any age


Aliases & Descriptions:

wiskott-aldrich syndrome 9 10 22 48 11 46 50 32 63
wiskott aldrich syndrome 44 21 23
eczema-thrombocytopenia-immunodeficiency syndrome 22 50
immunodeficiency 2 44 22
wiskott syndrome 9 22
was 44 50
eczema thrombocytopenia immunodeficiency syndrome 44
aldrich syndrome 44
imd 2 44
imd2 22


External Ids:

Disease Ontology9 DOID:9169
NCIt41 C3448
ICD9CM28 279.12
SNOMED-CT59 36070007
ICD10 via Orphanet27 D82.0
SNOMED-CT via Orphanet60 36070007
UMLS via Orphanet64 C0043194
MESH via Orphanet37 D014923
ICD1026 D82.0

Related Diseases for Wiskott-Aldrich Syndrome

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18GeneCards, 19GeneDecks
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Diseases in the Wiskott-Aldrich Syndrome family:

Wiskott-Aldrich Syndrome 2

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

(show top 50)    (show all 78)
idRelated DiseaseScoreTop Affiliating Genes
1leukemia30.2SPN, NCK1, CDC42, NCKIPSD, BTK
2thrombocytopenia11.0
3x-linked thrombocytopenia10.9
4aneurysm10.8
5neuronitis10.7
6hematopoietic stem cell transplantation10.6
7herpes simplex10.6
8aortic aneurysm10.6
9purpura10.6
10thoracic aortic aneurysm10.5
11dermatitis10.5
12hodgkin's lymphoma10.5
13thrombotic thrombocytopenic purpura10.4
14progressive multifocal leukoencephalopathy10.4
15atopic dermatitis10.4
16glomerulonephritis10.4
17neutropenia10.4
18non-hodgkin lymphoma10.4
19vasculitis10.4
20lymphomatoid granulomatosis10.4
21wiskott-aldrich syndrome 210.4
22primary immunodeficiency disease10.4
23neurofibromatosis10.3
24molluscum contagiosum10.3
25autoimmune thyroiditis10.3
26iga glomerulonephritis10.3
27platelet storage pool deficiency10.3
28pharyngitis10.3
29follicular lymphoma10.3
30alzheimer's disease10.3
31intussusception10.3
32ulcerative colitis10.3
33kaposi's sarcoma10.3
34vaccinia10.3
35eclampsia10.3
36juvenile xanthogranuloma10.3
37cerebritis10.3
38juvenile myelomonocytic leukemia10.3
39systemic lupus erythematosus10.3
40common variable immunodeficiency10.3
41lymphoplasmacytic lymphoma10.3
42sclerosing cholangitis10.3
43kawasaki disease10.3
44adenocarcinoma10.3
45agammaglobulinemia10.3
46breast cancer10.3
47cholangitis10.3
48glaucoma10.3
49hepatitis10.3
50hepatocellular carcinoma10.3

Graphical network of the top 20 diseases related to Wiskott-Aldrich Syndrome:



Diseases related to wiskott-aldrich syndrome

Symptoms for Wiskott-Aldrich Syndrome

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

277970

Clinical features from OMIM:

301000,277970,600903,614493

Symptoms:

50 (show all 50)
  • vascularitis/vasculitides/arteritis
  • lung/pulmonary/alveolar hemorrhage/hematoma
  • hemorrhage/hemorrhagic syndrome/excessive/long-lasting bleeding
  • inflammatory intestinal disease
  • platelets shape anomalies
  • bruisability
  • metrorrhagia/menorrhagia/hemorrhagic cycles/hyper/poly/spanio/dysmenorrhea
  • hyperostosis
  • platelets function anomaly
  • intracranial/cerebral/meningeal hemorrhage
  • mucosal/cutaneous hemorrhage
  • internal hemorrhage
  • lymphoma
  • myeloproliferative syndrome/chronic leukemia
  • renal disease/nephropathy
  • sepsis severe/septicemia
  • polynuclear cells/neutrophils anomalies/neutropenia
  • nasal congestion/sinusitis/rhinitis/rhinorrhea
  • peripheral neuropathy
  • chronic skin infection/ulcerations/ulcers/cancrum
  • anaemia
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • cardiac rhythm disorder/arrhythmia
  • fever/chilling
  • asthenia/fatigue/weakness
  • arthritis/synovitis/synovial proliferation
  • repeat respiratory infections
  • chronic/relapsing otitis
  • early death/lethality
  • encephalitis
  • collapse/sudden death/cardiac arrest/cardiorespiratory arrest
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • thoracic/chest pain
  • autoimmunity/autoimmune reaction/autoantibodies
  • meningitis/meningeal syndrome
  • chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis
  • epistaxis/nose bleeding
  • thymic aplasia/hypoplasia
  • neoplasms/tumors
  • chronic obstructive pulmonary disease/copd/obstructive respiratory syndrome
  • hematomas
  • renal glomerular defect/glomerulopathy
  • purpura/petichiae
  • hemolytic anemia
  • thrombocytopenia/thrombopenia
  • microcytic anemia
  • x-linked recessive inheritance
  • gingivorrhagia/gingival bleeding
  • urticaria
  • intellectual deficit/mental/psychomotor retardation/learning disability

Drugs & Therapeutics for Wiskott-Aldrich Syndrome

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 32LifeMap Discoveryā„¢, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Wiskott-Aldrich Syndrome

Drug clinical trials:

Search ClinicalTrials for Wiskott-Aldrich Syndrome

Search NIH Clinical Center for Wiskott-Aldrich Syndrome

Search CenterWatch for Wiskott-Aldrich Syndrome

Cell-based therapeutics:


LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine
Read about Wiskott-Aldrich Syndrome cell therapies at LifeMap Discovery.

Genetic Tests for Wiskott-Aldrich Syndrome

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21GeneTests, 23GTR
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Genetic tests related to Wiskott-Aldrich Syndrome:

id Genetic test Affiliating Genes
1 Wiskott-Aldrich Syndrome21 23 WAS

Anatomical Context for Wiskott-Aldrich Syndrome

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34MalaCards
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MalaCards organs/tissues related to Wiskott-Aldrich Syndrome:

34
Bone, Bone marrow, Skin, T cells, Spleen, B cells, Lung, Nk cells, Smooth muscle, Breast, Brain, Liver, Kidney, Cortex, Eye, Thyroid, Monocytes, Endothelial, Testis

Animal Models for Wiskott-Aldrich Syndrome or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Wiskott-Aldrich Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.8WASL, CDC42, BTK, WASF1, WAS
2MP:00036318.4WASF1, WASF2, DOCK3, NCKIPSD, NCK1, CDC42
3MP:00053878.3DOCK3, PSTPIP1, BTK, WASL, SPN, WIPF1
4MP:00053978.2BTK, PSTPIP1, DOCK3, WASF3, WAS, WASL
5MP:00053847.9ARFRP1, NCK1, CDC42, NCKIPSD, BTK, WASL

Publications for Wiskott-Aldrich Syndrome

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53PubMed
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Articles related to Wiskott-Aldrich Syndrome:

(show top 50)    (show all 533)
idTitleAuthorsYear
1
Mycolactone activation of Wiskott-Aldrich syndrome proteins underpins Buruli ulcer formation. (23549080)
2013
2
Wiskott-Aldrich syndrome caused by a new mutation associated with multifocal dermal juvenile xanthogranulomas. (23157619)
2013
3
Endovascular repair of descending thoracic aortic aneurysm in patient with Wiskott-Aldrich syndrome. (23643280)
2013
4
Use of zinc-finger nucleases to knock out the WAS gene in K562 cells: a human cellular model for Wiskott-Aldrich syndrome. (23324327)
2013
5
c-Src and neural Wiskott-Aldrich syndrome protein (N-WASP) promote low oxygen-induced accelerated brain invasion by gliomas. (24069415)
2013
6
Actin dynamics regulated by the balance of neuronal Wiskott-Aldrich syndrome protein (N-WASP) and cofilin activities determines the biphasic response of glucose-induced insulin secretion. (23867458)
2013
7
Wiskott-Aldrich syndrome with unusual clinical features similar to juvenile myelomonocytic leukemia. (22736231)
2012
8
Occurrence of aortic aneurysms in 5 cases of Wiskott-Aldrich syndrome. (21262885)
2011
9
The Wiskott-Aldrich syndrome protein permits assembly of a focused immunological synapse enabling sustained T-cell receptor signaling. (21659358)
2011
10
A novel mutation of the WAS gene in a patient with Wiskott-Aldrich syndrome presenting with recalcitrant viral warts. (20863667)
2010
11
Critical requirement for the Wiskott-Aldrich syndrome protein in Th2 effector function. (20032499)
2010
12
Stem-cell gene therapy for the Wiskott-Aldrich syndrome. (21067383)
2010
13
Hematopoietic-specific lentiviral vectors circumvent cellular toxicity due to ectopic expression of Wiskott-Aldrich syndrome protein. (18240968)
2008
14
Unprecedented diversity of genotypic revertants in lymphocytes of a patient with Wiskott-Aldrich syndrome. (18332229)
2008
15
Development of lentiviral gene therapy for Wiskott Aldrich syndrome. (18194074)
2008
16
Detection of 28 novel mutations in the Wiskott-Aldrich syndrome and X-linked thrombocytopenia based on multiplex PCR. (17400488)
2007
17
Wiskott-Aldrich syndrome protein is involved in alphaIIb beta3-mediated cell adhesion. (16582881)
2006
18
Lessons from the Wiskott-Aldrich syndrome. (17065636)
2006
19
An electrostatic steering mechanism of Cdc42 recognition by Wiskott-Aldrich syndrome proteins. (16246732)
2005
20
The adapter protein CrkII regulates neuronal Wiskott-Aldrich syndrome protein, actin polymerization, and tension development during contractile stimulation of smooth muscle. (15834156)
2005
21
A novel splice site mutation in the WAS gene causes Wiskott-Aldrich syndrome in two siblings of a Saudi family. (15389128)
2004
22
Neural Wiskott-Aldrich syndrome protein is recruited to rafts and associates with endophilin A in response to epidermal growth factor. (12477732)
2003
23
The Wiskott-Aldrich syndrome protein acts downstream of CD2 and the CD2AP and PSTPIP1 adaptors to promote formation of the immunological synapse. (12530983)
2003
24
Effects of ectopically expressed neuronal Wiskott-Aldrich syndrome protein domains on Rickettsia rickettsii actin-based motility. (12595475)
2003
25
X-linked thrombocytopenia caused by a mutation in the Wiskott-Aldrich syndrome (WAS) gene that disrupts interaction with the WAS protein (WASP)-interacting protein (WIP). (12591280)
2003
26
Isolated EBV lymphoproliferative disease in a child with Wiskott-Aldrich syndrome manifesting as cutaneous lymphomatoid granulomatosis and responsive to anti-CD20 immunotherapy. (12835306)
2003
27
Flow cytometric determination of intracytoplasmic Wiskott-Aldrich syndrome protein in peripheral blood lymphocyte subpopulations. (11792389)
2002
28
Restoration of podosomes and chemotaxis in Wiskott-Aldrich syndrome macrophages following induced expression of WASp. (11950596)
2002
29
Wiskott-Aldrich syndrome protein is required for NK cell cytotoxicity and colocalizes with actin to NK cell-activating immunologic synapses. (12177428)
2002
30
Structure of the N-WASP EVH1 domain-WIP complex: insight into the molecular basis of Wiskott-Aldrich Syndrome. (12437929)
2002
31
Cdc42, Rac1, and the Wiskott-Aldrich syndrome protein are involved in the cytoskeletal regulation of B lymphocytes. (11493455)
2001
32
Pneumatosis intestinalis in an infant undergoing bone marrow transplantation for Wiskott-Aldrich syndrome. (11560758)
2001
33
Expression of human Wiskott-Aldrich syndrome protein in patients' cells leads to partial correction of a phenotypic abnormality of cell surface glycoproteins. (10694812)
2000
34
Severe osteopenia with recurrent fractures after bone marrow transplant for Wiskott-Aldrich syndrome: a case report. (10823614)
2000
35
X-linked thrombocytopenia identified by flow cytometric demonstration of defective Wiskott-Aldrich syndrome protein in lymphocytes. (10691337)
2000
36
WASP levels in platelets and lymphocytes of wiskott-aldrich syndrome patients correlate with cell dysfunction. (10570326)
1999
37
The cytoskeletal linker protein moesin: decreased levels in Wiskott-Aldrich syndrome platelets and identification of a cleavage pathway in normal platelets. (10444190)
1999
38
Spontaneous apoptosis in lymphocytes from patients with Wiskott-Aldrich syndrome: correlation of accelerated cell death and attenuated bcl-2 expression. (10572103)
1999
39
PH domains in WASP - a bug in the system? Wiskott-Aldrich syndrome protein. (10354565)
1999
40
Wiskott-Aldrich syndrome: a gene, a multifunctional protein and the beginnings of an explanation. (9743991)
1998
41
Henoch-SchAPnlein purpura with immunoglobulin A nephropathy and abnormalities of immunoglobulin A in a Wiskott-Aldrich syndrome carrier. (9016903)
1997
42
Expression of Wiskott-Aldrich syndrome protein (WASP) gene during hematopoietic differentiation. (9207440)
1997
43
Wiskott-Aldrich syndrome protein, a novel effector for the GTPase CDC42Hs, is implicated in actin polymerization. (8625410)
1996
44
Wiskott-Aldrich syndrome protein (WASp) is a binding partner for c-Src family protein-tyrosine kinases. (8805332)
1996
45
WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia. (8528199)
1995
46
The UDP-galactose translocator gene is mapped to band Xp11.23-p11.22 containing the Wiskott-Aldrich syndrome locus. (8128316)
1993
47
Early bone marrow transplantation in an infant with Wiskott-Aldrich syndrome. (1793157)
1991
48
Molecular characterization of sialophorin (CD43), the lymphocyte surface sialoglycoprotein defective in Wiskott-Aldrich syndrome. (2784859)
1989
49
IgA glomerulonephritis in Wiskott-Aldrich syndrome. (3251617)
1988-1989
50
Hereditary X-linked thrombocytopenia maps to the same chromosomal region as the Wiskott-Aldrich syndrome. (2904289)
1988

Variations for Wiskott-Aldrich Syndrome

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Wiskott-Aldrich Syndrome:

65 (show all 19)
id Symbol AA change Variation ID SNP ID
1WASp.Glu31LysVAR_005825
2WASp.Ser82ProVAR_005829
3WASp.Arg86HisVAR_005830
4WASp.Arg86LeuVAR_005831
5WASp.Arg86CysVAR_005832
6WASp.Trp97CysVAR_005833
7WASp.Glu131LysVAR_005834rs146220228
8WASp.Glu133LysVAR_005835
9WASp.Gly187CysVAR_005836
10WASp.Lys476GluVAR_005838
11WASp.Cys43TrpVAR_008105
12WASp.Thr45MetVAR_008106
13WASp.Cys73ArgVAR_008107
14WASp.Phe84LeuVAR_008109
15WASp.Gly89AspVAR_008110
16WASp.Gln52HisVAR_012710
17WASp.Gly70TrpVAR_012711
18WASp.Pro58LeuVAR_022806
19WASp.Ala134ThrVAR_022807

Clinvar genetic disease variations for Wiskott-Aldrich Syndrome:

1 (show all 16)
id Gene Name Type Significance SNP ID Assembly Location
1WASWAS, 1-BP DEL, 211TdeletionPathogenic
2WASNM_000377.2(WAS): c.257G> T (p.Arg86Leu)single nucleotide variantPathogenicrs132630268GRCh37Chr X, 48542796: 48542796
3WASNM_000377.2(WAS): c.257G> A (p.Arg86His)single nucleotide variantPathogenicrs132630268GRCh37Chr X, 48542796: 48542796
4WASNM_000377.2(WAS): c.100C> T (p.Arg34Ter)single nucleotide variantPathogenicrs132630271GRCh37Chr X, 48542342: 48542342
5WASNM_000377.2(WAS): c.1A> T (p.Met1Leu)single nucleotide variantPathogenicGRCh37Chr X, 48542243: 48542243
6WASNM_000377.2(WAS): c.395_400dupACGAGG (p.Glu133_Ala134insAspGlu)duplicationPathogenicGRCh37Chr X, 48544157: 48544162
7WASNM_000377.2(WAS): c.1097delG (p.Gly366Alafs)deletionPathogenicGRCh37Chr X, 48547214: 48547214
8WASWAS, 15,800-BP DELdeletionPathogenic
9WASWAS, IVS6DS, G-A, +5single nucleotide variantPathogenic
10WASWAS, IVS6AS, G-A, -1single nucleotide variantPathogenic
11WASWAS, IVS6DS, T-G, +2single nucleotide variantPathogenic
12WASNM_000377.2(WAS): c.11delG (p.Gly4Alafs)deletionPathogenicGRCh37Chr X, 48542253: 48542253
13WASWAS, 2-BP DEL, 73ACdeletionPathogenic
14WASWAS, 1-BP DEL, 758AdeletionPathogenic
15WASWAS, 1-BP DEL, CODON 241, CdeletionPathogenic
16WASNM_000377.2(WAS): c.37C> T (p.Arg13Ter)single nucleotide variantPathogenicrs193922415GRCh37Chr X, 48542279: 48542279

Expression for genes affiliated with Wiskott-Aldrich Syndrome

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Wiskott-Aldrich Syndrome

Search GEO for disease gene expression data for Wiskott-Aldrich Syndrome.

Pathways for genes affiliated with Wiskott-Aldrich Syndrome

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Sources:
51PathCards, 56Reactome, 61Thomson Reuters, 39NCBI BioSystems Database, 54QIAGEN, 31KEGG, 55R&D Systems, 13EMD Millipore, 5Cell Signaling Technology
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Pathways related to Wiskott-Aldrich Syndrome according to GeneCards/GeneDecks:

(show all 44)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
10.0WAS, NCK1
2
Show member pathways
10.0NCK1, CDC42
3
Show member pathways
PDGF Pathway39
9.9WASL, CDC42
49.9WASL, NCK1
59.9NCK1, WASL
69.9WASF2, CDC42
7
Show member pathways
TCR signaling in naive CD8+ T cells39
9.8CDC42, NCK1, WAS
89.8DOCK3, NCK1, CDC42
99.7WASL, WAS, CDC42
10
Show member pathways
9.7WASL, NCK1, CDC42
11
Show member pathways
Cell adhesion Ephrins signaling61
MAP kinase cascade39
EphrinB-EPHB pathway39
9.7WASL, NCK1, CDC42
129.7CDC42, NCK1, WASL
139.7CDC42, NCK1, WASL
14
Show member pathways
9.5CDC42, ACTR2, WAS
15
Show member pathways
9.5CDC42, NCK1, BTK, WAS
16
Show member pathways
Immune response BCR pathway61
Fc-epsilon receptor I signaling in mast cells39
9.5WIPF1, BTK, NCK1, CDC42
17
Show member pathways
9.4CDC42, ACTR2, WASL
189.4CDC42, ACTR2, WASL
199.4WASL, ACTR2, CDC42
20
Show member pathways
Immune response CD16 signaling in NK cells61
9.3WIPF1, WAS, ACTR2, CDC42
21
Show member pathways
BCR signaling pathway39
TCR Signaling Pathway39
9.2WAS, PSTPIP1, BTK, NCK1, CDC42
229.2WAS, ACTR2, BTK, NCK1
23
Show member pathways
9.2WAS, WASF1, ACTR2, CDC42
24
Show member pathways
9.2CDC42, ACTR2, WASF1, WAS
259.2CDC42, NCK1, ACTR2, WASL
26
Show member pathways
9.1CDC42, ACTR2, WASF1, WASL
279.1WASL, WASF2, ACTR2, CDC42
28
Show member pathways
9.1WASL, WAS, WASF1, WASF2, CDC42
29
Show member pathways
9.1WASL, WAS, WASF1, WASF2, CDC42
309.1WASL, WAS, WASF1, WASF2, CDC42
31
Show member pathways
Neurophysiological process Receptor mediated axon growth repulsion61
Pathogenic Escherichia coli infection39
9.0WASL, WAS, ACTR2, NCK1, CDC42
32
Show member pathways
Cytoskeleton remodeling Reverse signaling by ephrin B61
9.0WIPF1, WASL, ACTR2, NCK1, CDC42
33
Show member pathways
8.9WAS, WASF1, ACTR2, BTK, CDC42
34
Show member pathways
Cytoskeleton remodeling Fibronectin binding integrins in cell motility61
Cytoskeleton remodeling Integrin outside in signaling61
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases61
Cell adhesion Tight junctions61
Development MAG dependent inhibition of neurite outgrowth61
8.9CDC42, ACTR2, WASF1, WAS, WASL
358.9WASL, WAS, WASF1, WASF3, WASF2, CDC42
368.9WASL, WAS, WASF1, WASF3, WASF2, CDC42
37
Show member pathways
RAC1 signaling pathway39
8.8WASL, WASF1, WASF2, ACTR2, CDC42
38
Show member pathways
8.7WASL, WAS, ACTR2, BTK, NCK1, CDC42
39
Show member pathways
8.6WASL, WAS, WASF1, ACTR2, NCK1, CDC42
40
Show member pathways
8.6WASL, WAS, WASF1, ACTR2, BTK, CDC42
41
Show member pathways
8.6WASL, WASF1, WASF3, ACTR2, BTK, CDC42
428.4WASL, WAS, WASF3, WASF2, ACTR2, NCK1
43
Show member pathways
Cytoskeleton remodeling CDC42 in cellular processes61
8.3WASL, WAS, WASF1, WASF2, ACTR2, NCK1
44
Show member pathways
7.2CDC42, WIPF1, WASL, WAS, WASF1, WASF3

Compounds for genes affiliated with Wiskott-Aldrich Syndrome

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46Novoseek, 62Tocris Bioscience
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Compounds related to Wiskott-Aldrich Syndrome according to GeneCards/GeneDecks:

(show all 11)
idCompoundScoreTop Affiliating Genes
1wiskostatin4610.0WASL, WAS, CDC42
2latex469.9WASL, WAS, CDC42
3jasplakinolide46 6210.8CDC42, WASL
4ionomycin469.8CDC42, BTK, WAS
5cytochalasin d46 6210.7WASL, WAS, CDC42
6phosphoinositide469.5CDC42, NCK1, BTK, WASL
7pip2469.4CDC42, NCK1, BTK, WAS, WASL
8proline469.4WIPF1, WASL, WAS, BTK, NCK1
9phosphatidylinositol469.3WASL, WAS, BTK, NCK1, CDC42
10serine468.3SPN, WAS, PSTPIP1, BTK, NCK1, CDC42
11tyrosine467.8SPN, WASL, WAS, WASF2, PSTPIP1, SNX9

GO Terms for genes affiliated with Wiskott-Aldrich Syndrome

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17Gene Ontology
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Cellular components related to Wiskott-Aldrich Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1vesicle membraneGO:01250610.0WAS, NCK1
2SCAR complexGO:0312099.8WASF2, WASF1
3actin capGO:0304789.8ACTR2, WASL
4uropodGO:0019319.7PSTPIP1, SPN
5ruffleGO:0017269.4WASF2, SNX9, WIPF1
6cytoplasmic membrane-bounded vesicleGO:0160239.3WASL, SNX9, WIPF1
7lamellipodiumGO:0300279.2PSTPIP1, WASF2, WASF3, WASF1, WASL
8actin cytoskeletonGO:0156298.8ACTR2, WASF2, WASF1, WAS, WIPF1, WASL
9extracellular vesicular exosomeGO:0700628.0CDC42, SNX9, ACTR2, WASF2, WASL, WAS
10cytosolGO:0058297.7CDC42, WIPF1, WASL, WAS, NCK1, NCKIPSD

Biological processes related to Wiskott-Aldrich Syndrome according to GeneCards/GeneDecks:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1response to other organismGO:05170710.1WIPF1, NCK1
2T cell activationGO:04211010.0NCK1, WAS
3actin polymerization or depolymerizationGO:00815410.0WIPF1, WASL, WAS
4actin filament-based movementGO:03004810.0WAS, WIPF1, WASF2
5actin filament polymerizationGO:03004110.0WASF1, WASF3, WAS
6lamellipodium morphogenesisGO:0726739.9WASF1, WASF2
7positive regulation of Arp2/3 complex-mediated actin nucleationGO:20006019.9WASF1, WAS, WASL
8lamellipodium assemblyGO:0300329.8WASF2, NCK1, WASF3
9spindle localizationGO:0516539.8ACTR2, WASL
10Rac protein signal transductionGO:0166019.5WASF1, WASF2
11protein complex assemblyGO:0064619.5WASF3, WIPF1, WASL, WAS, WASF1
12cellular component movementGO:0069289.3ACTR2, WASF1, WASL
13establishment or maintenance of cell polarityGO:0071639.3SPN, ACTR2, CDC42
14actin cytoskeleton organizationGO:0300369.3ACTR2, CDC42, WASF2
15Fc-gamma receptor signaling pathway involved in phagocytosisGO:0380968.3WASL, CDC42, WAS, WASF2, WIPF1, ACTR2
16innate immune responseGO:0450877.8NCK1, NCKIPSD, BTK, ACTR2, PSTPIP1, WASF2

Molecular functions related to Wiskott-Aldrich Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1small GTPase regulator activityGO:00508310.0WASL, WAS
2actin bindingGO:0037798.0ACTR2, WIPF1, WASL, WAS, WASF1, WASF3
3protein bindingGO:0055155.3DOCK3, WASF2, WASF1, WAS, WASL, WIPF1

Products for genes affiliated with Wiskott-Aldrich Syndrome

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Sources for Wiskott-Aldrich 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