MCID: WSK001
MIFTS: 69

Wiskott-Aldrich Syndrome malady

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

Summaries for Wiskott-Aldrich Syndrome

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NIH Rare Diseases:41 Wiskott aldrich syndrome is a condition that affects blood cells and cells of the immune system. 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), and severe recurrent infections. wiskott aldrich syndrome is caused by mutations in the was gene, which is located on the x chromosome. the condition is inherited in an x-linked recessive pattern. the leading treatment option for wiskott aldrich syndrome 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 based summary: Wiskott-Aldrich Syndrome, also known as eczema-thrombocytopenia-immunodeficiency syndrome, is related to dermatitis and leukemia, and has symptoms including sinusitis, otitis media and bruising susceptibility. 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, skin and bone marrow, and related mouse phenotypes are digestive/alimentary and nervous system.

Genetics Home Reference:21 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.

OMIM:45 Wiskott-Aldrich syndrome is an X-linked recessive immunodeficiency characterized by thrombocytopenia, eczema, and... (301000) more...

Wikipedia:63 Wiskott?Aldrich syndrome (WAS) is a rare X-linked recessive disease characterized by eczema,... more...

Aliases & Classifications for Wiskott-Aldrich Syndrome

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Sources:
45OMIM, 30LifeMap Discovery®, 9Disease Ontology, 10diseasecard, 41NIH Rare Diseases, 21Genetics Home Reference, 11DISEASES, 43Novoseek, 47Orphanet, 60UMLS, 20GeneTests, 22GTR, 55SNOMED-CT, 33MeSH, 27ICD9CM, 38NCIt, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet, 25ICD10
See all sources

Wiskott-Aldrich Syndrome, Aliases & Descriptions:

Name: Wiskott-Aldrich Syndrome 45 30 9 10 41 21 11 43 47 60
Eczema-Thrombocytopenia-Immunodeficiency Syndrome 41 21 47
Wiskott Aldrich Syndrome 41 20 22
Immunodeficiency 2 41 21
Wiskott Syndrome 9 21
 
Was 41 47
Eczema Thrombocytopenia Immunodeficiency Syndrome 41
Aldrich Syndrome 41
Imd 2 41
Imd2 21


Classifications:



Characteristics (Orphanet epidemiological data):

47
wiskott-aldrich syndrome:
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable,X-linked recessive; Prevalence: 1-9/1000000 (Europe),1-9/1000000 (France); Age of onset: Infancy,Neonatal; Age of death: any age


External Ids:

OMIM45 301000
Disease Ontology9 DOID:9169
ICD9CM27 279.12
NCIt38 C3448
SNOMED-CT55 36070007
Orphanet47 906
MESH via Orphanet34 D014923
ICD10 via Orphanet26 D82.0
UMLS via Orphanet61 C0043194
ICD1025 D82.0

Related Diseases for Wiskott-Aldrich Syndrome

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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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Symptoms by clinical synopsis from OMIM:

301000

Clinical features from OMIM:

301000

Symptoms:

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

HPO human phenotypes related to Wiskott-Aldrich Syndrome:

(show all 71)
id Description Frequency HPO Source Accession
1 sinusitis hallmark (90%) HP:0000246
2 otitis media hallmark (90%) HP:0000388
3 bruising susceptibility hallmark (90%) HP:0000978
4 thrombocytopenia hallmark (90%) HP:0001873
5 recurrent respiratory infections hallmark (90%) HP:0002205
6 abnormality of temperature regulation hallmark (90%) HP:0004370
7 chronic obstructive pulmonary disease hallmark (90%) HP:0006510
8 gingival bleeding typical (50%) HP:0000225
9 epistaxis typical (50%) HP:0000421
10 hemolytic anemia typical (50%) HP:0001878
11 abnormality of coagulation typical (50%) HP:0001928
12 microcytic anemia typical (50%) HP:0001935
13 inflammation of the large intestine typical (50%) HP:0002037
14 respiratory insufficiency typical (50%) HP:0002093
15 autoimmunity typical (50%) HP:0002960
16 spontaneous hematomas typical (50%) HP:0007420
17 cognitive impairment typical (50%) HP:0100543
18 nephropathy occasional (7.5%) HP:0000112
19 abnormality of the menstrual cycle occasional (7.5%) HP:0000140
20 urticaria occasional (7.5%) HP:0001025
21 meningitis occasional (7.5%) HP:0001287
22 arthritis occasional (7.5%) HP:0001369
23 sudden cardiac death occasional (7.5%) HP:0001645
24 abnormality of neutrophils occasional (7.5%) HP:0001874
25 leukemia occasional (7.5%) HP:0001909
26 abnormality of coagulation occasional (7.5%) HP:0001928
27 intracranial hemorrhage occasional (7.5%) HP:0002170
28 pulmonary embolism occasional (7.5%) HP:0002204
29 encephalitis occasional (7.5%) HP:0002383
30 vasculitis occasional (7.5%) HP:0002633
31 lymphoma occasional (7.5%) HP:0002665
32 peripheral neuropathy occasional (7.5%) HP:0009830
33 aplasia/hypoplasia of the thymus occasional (7.5%) HP:0010515
34 inflammatory abnormality of the eye occasional (7.5%) HP:0100533
35 chest pain occasional (7.5%) HP:0100749
36 hyperostosis occasional (7.5%) HP:0100774
37 sepsis occasional (7.5%) HP:0100806
38 glomerulopathy occasional (7.5%) HP:0100820
39 skin ulcer occasional (7.5%) HP:0200042
40 nephropathy HP:0000112
41 gingival bleeding HP:0000225
42 sinusitis HP:0000246
43 otitis media HP:0000388
44 epistaxis HP:0000421
45 eczema HP:0000964
46 petechiae HP:0000967
47 purpura HP:0000979
48 meningitis HP:0001287
49 x-linked recessive inheritance HP:0001419
50 thrombocytopenia HP:0001873
51 hemolytic anemia HP:0001878
52 lymphopenia HP:0001888
53 iron deficiency anemia HP:0001891
54 reduced lymphocyte surface expression of cd43 (sialophorin) HP:0001983
55 diarrhea HP:0002014
56 inflammation of the large intestine HP:0002037
57 pneumonia HP:0002090
58 hematemesis HP:0002248
59 melena HP:0002249
60 recurrent lower respiratory tract infections HP:0002783
61 recurrent upper respiratory tract infections HP:0002788
62 specific anti-polysaccharide antibody deficiency HP:0002848
63 igm deficiency HP:0002850
64 abnormal delayed hypersensitivity skin test HP:0002963
65 absent microvilli on the surface of peripheral blood lymphocytes HP:0002971
66 prolonged bleeding time HP:0003010
67 increased ige level HP:0003212
68 increased iga level HP:0003261
69 large vessel vasculitis HP:0005310
70 decreased mean platelet volume HP:0005537
71 small vessel vasculitis HP:0011944

Drugs & Therapeutics for Wiskott-Aldrich Syndrome

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Drug clinical trials:

Search ClinicalTrials for Wiskott-Aldrich Syndrome

Search NIH Clinical Center for Wiskott-Aldrich Syndrome

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Wiskott-Aldrich Syndrome cell therapies at LifeMap Discovery.

Genetic Tests for Wiskott-Aldrich Syndrome

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Genetic tests related to Wiskott-Aldrich Syndrome:

id Genetic test Affiliating Genes
1 Wiskott-Aldrich Syndrome20 22 WAS

Anatomical Context for Wiskott-Aldrich Syndrome

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MalaCards organs/tissues related to Wiskott-Aldrich Syndrome:

31
Bone, Skin, Bone marrow, T cells, Spleen, B cells, Lung, Neutrophil, Eye, Thymus, Testes, Nk cells, Smooth muscle, Breast, Brain, Cortex, Kidney, Liver, Thyroid, Testis, Monocytes, Endothelial

Animal Models for Wiskott-Aldrich Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Wiskott-Aldrich Syndrome:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.8WASL, WAS, WASF1, BTK, CDC42
2MP:00036318.4CDC42, NCK1, NCKIPSD, DOCK3, WASF2, WASF1
3MP:00053878.3SPN, WIPF1, WASL, WAS, DOCK3, PSTPIP1
4MP:00053978.2BTK, SPN, WIPF1, WASL, WAS, WASF3
5MP:00053847.9WASL, WAS, BTK, NCKIPSD, NCK1, CDC42

Publications for Wiskott-Aldrich Syndrome

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Articles related to Wiskott-Aldrich Syndrome:

(show top 50)    (show all 565)
idTitleAuthorsYear
1
Successful renal transplantation in a patient with a Wiskott-Aldrich syndrome protein (WASP) gene mutation. (25864580)
2015
2
Lentiviral hematopoietic stem cell gene therapy in patients with wiskott-Aldrich syndrome. (25363993)
2014
3
Disruption of hSWI/SNF-Complexes in T cells by WAS Mutations Distinguishes X-linked Thrombocytopenia from Wiskott-Aldrich Syndrome. (25253772)
2014
4
Mycolactone activation of Wiskott-Aldrich syndrome proteins underpins Buruli ulcer formation. (23549080)
2013
5
Wiskott-Aldrich syndrome caused by a new mutation associated with multifocal dermal juvenile xanthogranulomas. (23157619)
2013
6
Endovascular repair of descending thoracic aortic aneurysm in patient with Wiskott-Aldrich syndrome. (23643280)
2013
7
Use of zinc-finger nucleases to knock out the WAS gene in K562 cells: a human cellular model for Wiskott-Aldrich syndrome. (23324327)
2013
8
c-Src and neural Wiskott-Aldrich syndrome protein (N-WASP) promote low oxygen-induced accelerated brain invasion by gliomas. (24069415)
2013
9
Wiskott-Aldrich syndrome with unusual clinical features similar to juvenile myelomonocytic leukemia. (22736231)
2012
10
Autoimmunity in wiskott-Aldrich syndrome: an unsolved enigma. (22826711)
2012
11
Occurrence of aortic aneurysms in 5 cases of Wiskott-Aldrich syndrome. (21262885)
2011
12
The Wiskott-Aldrich syndrome protein permits assembly of a focused immunological synapse enabling sustained T-cell receptor signaling. (21659358)
2011
13
A novel mutation of the WAS gene in a patient with Wiskott-Aldrich syndrome presenting with recalcitrant viral warts. (20863667)
2010
14
Critical requirement for the Wiskott-Aldrich syndrome protein in Th2 effector function. (20032499)
2010
15
Stem-cell gene therapy for the Wiskott-Aldrich syndrome. (21067383)
2010
16
Hematopoietic-specific lentiviral vectors circumvent cellular toxicity due to ectopic expression of Wiskott-Aldrich syndrome protein. (18240968)
2008
17
Unprecedented diversity of genotypic revertants in lymphocytes of a patient with Wiskott-Aldrich syndrome. (18332229)
2008
18
Development of lentiviral gene therapy for Wiskott Aldrich syndrome. (18194074)
2008
19
Detection of 28 novel mutations in the Wiskott-Aldrich syndrome and X-linked thrombocytopenia based on multiplex PCR. (17400488)
2007
20
Wiskott-Aldrich syndrome protein is involved in alphaIIb beta3-mediated cell adhesion. (16582881)
2006
21
Lessons from the Wiskott-Aldrich syndrome. (17065636)
2006
22
An electrostatic steering mechanism of Cdc42 recognition by Wiskott-Aldrich syndrome proteins. (16246732)
2005
23
The adapter protein CrkII regulates neuronal Wiskott-Aldrich syndrome protein, actin polymerization, and tension development during contractile stimulation of smooth muscle. (15834156)
2005
24
A novel splice site mutation in the WAS gene causes Wiskott-Aldrich syndrome in two siblings of a Saudi family. (15389128)
2004
25
Neural Wiskott-Aldrich syndrome protein is recruited to rafts and associates with endophilin A in response to epidermal growth factor. (12477732)
2003
26
The Wiskott-Aldrich syndrome protein acts downstream of CD2 and the CD2AP and PSTPIP1 adaptors to promote formation of the immunological synapse. (12530983)
2003
27
Effects of ectopically expressed neuronal Wiskott-Aldrich syndrome protein domains on Rickettsia rickettsii actin-based motility. (12595475)
2003
28
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
29
Flow cytometric determination of intracytoplasmic Wiskott-Aldrich syndrome protein in peripheral blood lymphocyte subpopulations. (11792389)
2002
30
Restoration of podosomes and chemotaxis in Wiskott-Aldrich syndrome macrophages following induced expression of WASp. (11950596)
2002
31
Wiskott-Aldrich syndrome protein is required for NK cell cytotoxicity and colocalizes with actin to NK cell-activating immunologic synapses. (12177428)
2002
32
Structure of the N-WASP EVH1 domain-WIP complex: insight into the molecular basis of Wiskott-Aldrich Syndrome. (12437929)
2002
33
Cdc42, Rac1, and the Wiskott-Aldrich syndrome protein are involved in the cytoskeletal regulation of B lymphocytes. (11493455)
2001
34
Pneumatosis intestinalis in an infant undergoing bone marrow transplantation for Wiskott-Aldrich syndrome. (11560758)
2001
35
Expression of human Wiskott-Aldrich syndrome protein in patients' cells leads to partial correction of a phenotypic abnormality of cell surface glycoproteins. (10694812)
2000
36
Severe osteopenia with recurrent fractures after bone marrow transplant for Wiskott-Aldrich syndrome: a case report. (10823614)
2000
37
X-linked thrombocytopenia identified by flow cytometric demonstration of defective Wiskott-Aldrich syndrome protein in lymphocytes. (10691337)
2000
38
WASP levels in platelets and lymphocytes of wiskott-aldrich syndrome patients correlate with cell dysfunction. (10570326)
1999
39
The cytoskeletal linker protein moesin: decreased levels in Wiskott-Aldrich syndrome platelets and identification of a cleavage pathway in normal platelets. (10444190)
1999
40
Spontaneous apoptosis in lymphocytes from patients with Wiskott-Aldrich syndrome: correlation of accelerated cell death and attenuated bcl-2 expression. (10572103)
1999
41
Wiskott-Aldrich syndrome: a gene, a multifunctional protein and the beginnings of an explanation. (9743991)
1998
42
Henoch-SchAPnlein purpura with immunoglobulin A nephropathy and abnormalities of immunoglobulin A in a Wiskott-Aldrich syndrome carrier. (9016903)
1997
43
Expression of Wiskott-Aldrich syndrome protein (WASP) gene during hematopoietic differentiation. (9207440)
1997
44
Wiskott-Aldrich syndrome protein, a novel effector for the GTPase CDC42Hs, is implicated in actin polymerization. (8625410)
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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UniProtKB/Swiss-Prot genetic disease variations for Wiskott-Aldrich Syndrome:

62 (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:

6 (show all 19)
id Gene Variation 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
16WIPF1WIPF1, SER434TERsingle nucleotide variantPathogenic
17WASNM_000377.2(WAS): c.310C> T (p.Gln104Ter)single nucleotide variantLikely pathogenicrs193922414GRCh37Chr X, 48543972: 48543972
18WASNM_000377.2(WAS): c.37C> T (p.Arg13Ter)single nucleotide variantPathogenicrs193922415GRCh37Chr X, 48542279: 48542279
19WASNM_000377.2(WAS): c.763dupC (p.Gln255Profs)duplicationLikely pathogenicrs193922416GRCh37Chr X, 48546471: 48546472

Expression for genes affiliated with Wiskott-Aldrich Syndrome

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

Pathways for genes affiliated with Wiskott-Aldrich Syndrome

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Pathways related to Wiskott-Aldrich Syndrome according to GeneCards Suite gene sharing:

(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 Pathway36
9.9WASL, CDC42
49.9WASL, NCK1
59.9NCK1, WASL
69.9WASF2, CDC42
7
Show member pathways
TCR signaling in naive CD8+ T cells36
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 signaling58
MAP kinase cascade36
EphrinB-EPHB pathway36
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 pathway58
Fc-epsilon receptor I signaling in mast cells36
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 cells58
9.3WIPF1, WAS, ACTR2, CDC42
21
Show member pathways
BCR signaling pathway36
TCR Signaling Pathway36
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 repulsion58
Pathogenic Escherichia coli infection36
Cytoskeleton remodeling Slit Robo signaling
9.0WASL, WAS, ACTR2, NCK1, CDC42
32
Show member pathways
Cytoskeleton remodeling Reverse signaling by ephrin B58
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 motility58
Cytoskeleton remodeling Integrin outside in signaling58
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases58
Cell adhesion Tight junctions58
Development MAG dependent inhibition of neurite outgrowth58
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 pathway36
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 processes58
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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Sources:
43Novoseek, 59Tocris Bioscience
See all sources

Compounds related to Wiskott-Aldrich Syndrome according to GeneCards Suite gene sharing:

(show all 11)
idCompoundScoreTop Affiliating Genes
1wiskostatin4310.0WASL, WAS, CDC42
2latex439.9WASL, WAS, CDC42
3jasplakinolide43 5910.8CDC42, WASL
4ionomycin439.8CDC42, BTK, WAS
5cytochalasin d43 5910.7WASL, WAS, CDC42
6phosphoinositide439.5CDC42, NCK1, BTK, WASL
7pip2439.4CDC42, NCK1, BTK, WAS, WASL
8proline439.4WIPF1, WASL, WAS, BTK, NCK1
9phosphatidylinositol439.3WASL, WAS, BTK, NCK1, CDC42
10serine438.3SPN, WAS, PSTPIP1, BTK, NCK1, CDC42
11tyrosine437.8SPN, WASL, WAS, WASF2, PSTPIP1, SNX9

GO Terms for genes affiliated with Wiskott-Aldrich Syndrome

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Cellular components related to Wiskott-Aldrich Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1vesicle membraneGO:001250610.0NCK1, WAS
2SCAR complexGO:00312099.9WASF1, WASF2
3actin capGO:00304789.8WASL, ACTR2
4uropodGO:00019319.6SPN, PSTPIP1
5ruffleGO:00017269.4SNX9, WASF2, WIPF1
6cytoplasmic membrane-bounded vesicleGO:00160239.3WIPF1, WASL, SNX9
7lamellipodiumGO:00300279.2WASL, WASF1, WASF3, WASF2, PSTPIP1
8actin cytoskeletonGO:00156298.8ACTR2, WASF2, WASF1, WAS, WASL, WIPF1
9extracellular vesicular exosomeGO:00700628.0SPN, WASL, WAS, WASF2, ACTR2, SNX9
10cytosolGO:00058297.7WIPF1, WASL, WAS, WASF2, PSTPIP1, ACTR2

Biological processes related to Wiskott-Aldrich Syndrome according to GeneCards Suite gene sharing:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1response to other organismGO:005170710.1WIPF1, NCK1
2T cell activationGO:004211010.0NCK1, WAS
3actin polymerization or depolymerizationGO:000815410.0WIPF1, WASL, WAS
4actin filament-based movementGO:003004810.0WAS, WIPF1, WASF2
5actin filament polymerizationGO:003004110.0WASF1, WASF3, WAS
6lamellipodium morphogenesisGO:00726739.9WASF1, WASF2
7positive regulation of Arp2/3 complex-mediated actin nucleationGO:020006019.9WASF1, WAS, WASL
8lamellipodium assemblyGO:00300329.8WASF2, NCK1, WASF3
9spindle localizationGO:00516539.8ACTR2, WASL
10Rac protein signal transductionGO:00166019.5WASF1, WASF2
11protein complex assemblyGO:00064619.5WASF3, WIPF1, WASL, WAS, WASF1
12cellular component movementGO:00069289.3ACTR2, WASF1, WASL
13establishment or maintenance of cell polarityGO:00071639.3SPN, ACTR2, CDC42
14actin cytoskeleton organizationGO:00300369.3ACTR2, CDC42, WASF2
15Fc-gamma receptor signaling pathway involved in phagocytosisGO:00380968.3WASL, CDC42, WAS, WASF2, WIPF1, ACTR2
16innate immune responseGO:00450877.8NCK1, NCKIPSD, BTK, ACTR2, PSTPIP1, WASF2

Molecular functions related to Wiskott-Aldrich Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1small GTPase regulator activityGO:000508310.0WASL, WAS
2actin bindingGO:00037798.0ACTR2, WIPF1, WASL, WAS, WASF1, WASF3
3protein bindingGO:00055155.3DOCK3, 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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet