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WAS
MCID: WSK001
MIFTS: 87

Wiskott-Aldrich Syndrome (WAS) malady

Immune diseases, Skin diseases, Blood diseases, Cancer diseases categories
50 symptoms, 189 genes, 19 tissues, 948 related diseases, clinical trials, genetic tests.

Summaries for Wiskott-Aldrich Syndrome

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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: Wiskott-Aldrich Syndrome, also known as wiskott aldrich syndrome, is related to thrombocytopenia and agammaglobulinemia, and has symptoms including platelets function anomaly, polynuclear cells/neutrophils anomalies/neutropenia and arthritis/synovitis/synovial proliferation. An important gene associated with Wiskott-Aldrich Syndrome is WAS (Wiskott-Aldrich syndrome), and among its related pathways are Fcgamma receptor (FCGR) dependent phagocytosis and Immune System. The compounds tyrosine and proline have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and skin, and related mouse phenotypes are cellular and immune 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.

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

Description from OMIM:46 301000,277970,600903,614493

Aliases & Classifications for Wiskott-Aldrich Syndrome

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Sources:
8Disease Ontology, 9diseasecard, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 30LifeMap Discovery™, 60UMLS, 42NIH Rare Diseases, 20GeneTests, 22GTR, 39NCIt, 34MeSH, 27ICD9CM, 56SNOMED-CT, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 35MESH via Orphanet, 25ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Cancer diseases
Anatomical: Immune diseases, Skin diseases, Blood diseases
ICD10: 26 25


Characteristics (Orphanet epidemiological data):

48
wiskott-aldrich syndrome:
Inheritance: X-linked recessive; Prevalence: 1-9/1000000; Age of onset: Neonatal/infancy; Age of death: Any age


Aliases & Descriptions:

wiskott-aldrich syndrome 8 9 21 46 10 44 48 30 60
wiskott aldrich syndrome 42 20 22
eczema-thrombocytopenia-immunodeficiency syndrome 21 48
immunodeficiency 2 42 21
wiskott syndrome 8 21
was 42 48
eczema thrombocytopenia immunodeficiency syndrome 42
aldrich syndrome 42
imd 2 42
imd2 21


External Ids:

Disease Ontology8 DOID:9169
NCIt39 C3448
ICD9CM27 279.12
SNOMED-CT56 36070007
ICD10 via Orphanet26 D82.0
SNOMED-CT via Orphanet57 36070007
UMLS via Orphanet61 C0043194
MESH via Orphanet35 D014923
ICD1025 D82.0

Related Diseases for Wiskott-Aldrich Syndrome

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17GeneCards, 18GeneDecks
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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 948)
idRelated DiseaseScoreTop Affiliating Genes
1thrombocytopenia31.4WAS, SPN
2agammaglobulinemia30.3CFP, BTK
3alzheimer's disease30.3DOCK3
4shigellosis29.7WASL
5n syndrome10.9
6neuronitis10.6
7hyperlipidemia type 310.6
8aortic aneurysm10.6
9b cell deficiency10.6
10herpes simplex10.6
11purpura10.5
12thoracic aortic aneurysm10.5
13dermatitis10.5
14hodgkin's lymphoma10.5
15t cell deficiency10.5
16non-hodgkin lymphoma10.4
17iga glomerulonephritis10.4
18atopic dermatitis10.4
19thrombotic thrombocytopenic purpura10.4
20progressive multifocal leukoencephalopathy10.4
21adult syndrome10.4
22glomerulonephritis10.4
23neutropenia10.4
24vasculitis10.4
25x-linked disease10.4
26wiskott-aldrich syndrome 210.4
27bone fracture10.2
28neurofibromatosis10.2
29autoimmune thrombocytopenic purpura10.2
30autoimmune thyroiditis10.2
31molluscum contagiosum10.2
32vaccinia10.2
33eclampsia10.2
34juvenile xanthogranuloma10.2
35cerebritis10.2
36juvenile myelomonocytic leukemia10.2
37systemic lupus erythematosus10.2
38common variable immunodeficiency10.2
39acute retinal necrosis syndrome10.2
40platelet storage pool deficiency10.2
41pharyngitis10.2
42fanconi syndrome10.2
43familial melanoma10.2
44intussusception10.2
45ulcerative colitis10.2
46kaposi's sarcoma10.2
47kawasaki disease10.2
48sclerosing cholangitis10.2
49lymphoplasmacytic lymphoma10.2
50adenocarcinoma10.2

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



Diseases related to wiskott-aldrich syndrome

Clinical Features for Wiskott-Aldrich Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

301000,277970,600903,614493

Clinical synopsis from OMIM:

277970

Symptoms:

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

Drugs & Therapeutics for Wiskott-Aldrich Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 30LifeMap Discovery™, 60UMLS, 40NDF-RT
See all sources

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.
Stem-cell-based therapeutic approaches for Wiskott-Aldrich Syndrome:
ALD-151, umbilical cord blood cells for hematologic and immunodefeciency diseases
Hematopoietic stem cell transplantation for the treatment of genetic blood cell-related diseases
Embryonic/Adult Cultured Cells Related to Wiskott-Aldrich Syndrome:
Umbilical cord blood ALDH+ cells (ALD-151), PMID: 10430905
Bone marrow-derived ALDH+ cells (ALD), PMIDs: 19627297, 10430905
Bone marrow-derived hematopoietic stem cells (family)
Umbilical cord blood-derived hematopoietic stem cells (family)

Genetic Tests for Wiskott-Aldrich Syndrome

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20GeneTests, 22GTR
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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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32MalaCards
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MalaCards organs/tissues related to Wiskott-Aldrich Syndrome:

32
Bone, Bone marrow, Skin, T cells, Spleen, B cells, Lung, Nk cells, Breast, Smooth muscle, Endothelial, Eye, Brain, Cortex, Kidney, Liver, Thyroid, Testis, Monocytes

Animal Models for Wiskott-Aldrich Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Wiskott-Aldrich Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1
cellular phenotype
MP:000538411.0WASL, WAS, ARFRP1, NCKIPSD, NCK1, BTK
2
immune system phenotype
MP:000538710.9SPN, WIPF1, WASL, WAS, TFE3, DOCK3
3
hematopoietic system phenotype
MP:000539710.6WIPF1, WASL, WAS, WASF3, TFE3, TRIP10

Publications for Wiskott-Aldrich Syndrome

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50PubMed
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Articles related to Wiskott-Aldrich Syndrome:

(show top 50)    (show all 538)
idTitleAuthorsYear
1
Decreased expression of Wiskott-Aldrich syndrome protein family verprolin-homologous protein 2 may be involved in the development of pre-eclampsia. (24125947)
2014
2
Mycolactone activation of Wiskott-Aldrich syndrome proteins underpins Buruli ulcer formation. (23549080)
2013
3
Use of zinc-finger nucleases to knock out the WAS gene in K562 cells: a human cellular model for Wiskott-Aldrich syndrome. (23324327)
2013
4
Two cases of Wiskott-Aldrich syndrome in neonates due to gene mutations. (23301916)
2013
5
Impact of conditioning on outcome of hematopoietic stem cell transplantation for wiskott-Aldrich syndrome. (23389496)
2013
6
Wiskott-Aldrich syndrome. (23370560)
2013
7
Unilateral recalcitrant glaucoma associated with cytomegalovirus in an immunocompromised child with Wiskott-Aldrich syndrome. (24210345)
2013
8
Urgent minimal invasive treatment of a dental trauma in a child with Wiskott-Aldrich syndrome. (23358227)
2013
9
Wiskott-Aldrich syndrome protein-mediated actin dynamics control type-I interferon production in plasmacytoid dendritic cells. (23337808)
2013
10
Characteristics and outcome of early-onset, severe forms of Wiskott-Aldrich syndrome. (23264593)
2013
11
Combined de-novo mutation and non-random X-chromosome inactivation causing Wiskott-Aldrich syndrome in a female with thrombocytopenia. (23943155)
2013
12
Wiskott-Aldrich syndrome; an x-linked primary immunodeficiency disease with unique and characteristic features. (22361515)
2012
13
Wiskott-Aldrich syndrome protein deficiency in innate immune cells leads to mucosal immune dysregulation and colitis in mice. (22710191)
2012
14
Congenital cytomegalovirus infection and Wiskott-Aldrich syndrome successfully treated with unrelated cord blood transplantation. (21618408)
2011
15
A peptide derived from the Wiskott-Aldrich syndrome (WAS) protein-interacting protein (WIP) restores WAS protein level and actin cytoskeleton reorganization in lymphocytes from patients with WAS mutations that disrupt WIP binding. (21376381)
2011
16
Stem-cell gene therapy for the Wiskott-Aldrich syndrome. (21067383)
2010
17
Revertant T lymphocytes in a patient with Wiskott-Aldrich syndrome: analysis of function and distribution in lymphoid organs. (20159256)
2010
18
Hematopoietic cell transplantation for Wiskott-Aldrich syndrome: advances in biology and future directions for treatment. (20493395)
2010
19
WASH and WAVE actin regulators of the Wiskott-Aldrich syndrome protein (WASP) family are controlled by analogous structurally related complexes. (20498093)
2010
20
Somatic mosaicism in the Wiskott-Aldrich syndrome: molecular and functional characterization of genotypic revertants. (20123155)
2010
21
Acute haemorrhagic oedema of infancy associated with Wiskott-Aldrich syndrome. (20205356)
2009
22
Wiskott-Aldrich Syndrome: Immunodeficiency resulting from defective cell migration and impaired immunostimulatory activation. (19628299)
2009
23
Recent advances in understanding the pathophysiology of Wiskott-Aldrich syndrome. (19351959)
2009
24
Wiskott-Aldrich syndrome. (18043243)
2008
25
Evolution of highly polymorphic T cell populations in siblings with the Wiskott-Aldrich Syndrome. (18941616)
2008
26
Use of two unrelated umbilical cord stem cell units in stem cell transplantation for Wiskott-Aldrich syndrome. (16007596)
2006
27
Burkitt lymphoma-induced ileocolic intussusception in Wiskott-Aldrich syndrome. (16394894)
2006
28
Characterization of an aldolase-binding site in the Wiskott-Aldrich syndrome protein. (16278221)
2006
29
Increased expression of Wiskott-Aldrich syndrome protein family verprolin-homologous protein 2 correlated with poor prognosis of hepatocellular carcinoma. (17020969)
2006
30
An electrostatic steering mechanism of Cdc42 recognition by Wiskott-Aldrich syndrome proteins. (16246732)
2005
31
Epstein-Barr virus associated post-transplantation lymphoproliferative disorder with hemophagocytosis in a child with Wiskott-Aldrich syndrome. (15547918)
2005
32
Differential contribution of Wiskott-Aldrich syndrome protein to selective advantage in T- and B-cell lineages. (14504083)
2004
33
Neural Wiskott Aldrich Syndrome Protein (N-WASP) and the Arp2/3 complex are recruited to sites of clathrin-mediated endocytosis in cultured fibroblasts. (15085951)
2004
34
Gene symbol: WAS. Disease: Wiskott-Aldrich syndrome. (15678582)
2004
35
Effects of ectopically expressed neuronal Wiskott-Aldrich syndrome protein domains on Rickettsia rickettsii actin-based motility. (12595475)
2003
36
Identification of two novel WASP gene mutations in 3 boys with Wiskott-Aldrich syndrome]. (14744380)
2003
37
Wiskott-Aldrich Syndrome: a model for defective actin reorganization, cell trafficking and synapse formation. (14499269)
2003
38
Retrovirus-mediated WASP gene transfer corrects Wiskott-Aldrich syndrome T-cell dysfunction. (12067437)
2002
39
A novel protocol to identify mutations in patients with wiskott-Aldrich syndrome. (12367583)
2002
40
The Wiskott-Aldrich syndrome gene as a candidate gene for atopic dermatitis. (11800140)
2001
41
Overexpression of the Wiskott-Aldrich syndrome protein N-terminal domain in transgenic mice inhibits T cell proliferative responses via TCR signaling without affecting cytoskeletal rearrangements. (11591801)
2001
42
Molecular biology of the Wiskott-Aldrich syndrome. (11258421)
2000
43
Wiskott-Aldrich syndrome: molecular pieces slide into place. (10620622)
2000
44
A case of Wiskott-Aldrich syndrome with cilial immotility. (11092120)
2000
45
The Saccharomyces cerevisiae homologue of human Wiskott-Aldrich syndrome protein Las17p interacts with the Arp2/3 complex. (10512884)
1999
46
Antigen receptor-induced activation and cytoskeletal rearrangement are impaired in Wiskott-Aldrich syndrome protein-deficient lymphocytes. (10544204)
1999
47
A case of Wiskott-Aldrich syndrome with dual mutations in exon 10 of the WASP gene: an additional de novo one-base insertion, which restores frame shift due to an inherent one-base deletion, detected in the major population of the patient's peripheral blood lymphocytes. (9657775)
1998
48
Henoch-SchAPnlein purpura with immunoglobulin A nephropathy and abnormalities of immunoglobulin A in a Wiskott-Aldrich syndrome carrier. (9016903)
1997
49
Epstein-Barr virus-associated malignant lymphoma with macroamylasemia and monoclonal gammopathy in a patient with Wiskott-Aldrich syndrome. (9021818)
1997
50
The enigma of the Wiskott-Aldrich syndrome begins to unravel. (8647931)
1996

Genetic Variations for Wiskott-Aldrich Syndrome

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62UniProtKB/Swiss-Prot
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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

Expression for genes affiliated with Wiskott-Aldrich Syndrome

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1BioGPS, 15Gene 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:
53Reactome, 4Cell Signaling Technology, 12EMD Millipore, 29KEGG, 51QIAGEN, 37NCBI BioSystems Database
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Pathways related to Wiskott-Aldrich Syndrome according to GeneCards/GeneDecks:

(show all 36)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Fcgamma receptor (FCGR) dependent phagocytosis53
Hide members
11.0CDC42, WIPF1, WASF1, WASL, WASF2, WAS
2
Immune System53
Hide members
11.0WIPF1, WASF1, WASL, WASF2, WAS, WASF3
3
Cytoskeletal Signaling4
10.8WASL, WASF2, WAS, WASF3, NCK1, CDC42
4
Cytoskeleton remodeling CDC42 in cellular processes
Hide members
10.8WASF1, WASL, WASF2, WAS, NCK1, CDC42
5
Fc gamma R-mediated phagocytosis29
10.8WASF1, WASL, WASF2, WAS, WASF3, CDC42
6
Adherens junction29
10.8WASF1, WASL, WASF2, WAS, WASF3, CDC42
7
PKC-Theta Pathway51
Hide members
10.8WASL, WAS, NCK1, BTK, CDC42, ACTR2
8
PAK Pathway51
Hide members
10.8WASF1, WASL, WAS, BTK, CDC42, ACTR2
9
Actin Nucleation by ARP-WASP Complex51
Hide members
10.8WASF1, WASL, WAS, NCK1, CDC42, ACTR2
10
Rho Family GTPases51
Hide members
10.8WASF1, WASL, WASF3, BTK, CDC42, ACTR2
11
Immune response Fc epsilon RI pathway12
Hide members
10.7WIPF1, WAS, BTK, CDC42, ACTR2
12
Bacterial invasion of epithelial cells29
10.7WASF1, WASL, WASF2, WAS, CDC42
13
Shigellosis29
10.7WASF1, WASL, WASF2, WAS, CDC42
14
Regulation of Actin Cytoskeleton37
Hide members
10.7WASF1, WASL, WASF2, WAS, CDC42
15
Salmonella infection29
10.7WASF1, WASL, WASF2, WAS, CDC42
16
Development Slit-Robo signaling
Hide members
10.7ACTR2, CDC42, NCK1, WAS, WASL
17
Integrin Pathway51
Hide members
10.7WASF1, WAS, BTK, CDC42, ACTR2
18
Cell adhesion Integrin-mediated cell adhesion and migration
Hide members
10.7WASF1, WASL, WAS, CDC42, ACTR2
19
CDC42 signaling events37
Hide members
10.7WASF1, WASL, WASF2, CDC42, ACTR2
20
B cell receptor signaling pathway29
Hide members
10.7CDC42, BTK, NCK1, WAS
21
B Cell Receptor Signaling Pathway37
10.7ACTR2, BTK, NCK1, WAS
22
Salmonella Infection51
10.7ACTR2, CDC42, WAS, WASF1
23
fMLP Pathway51
Hide members
10.7ACTR2, CDC42, WAS, WASF1
24
Guidance Cues and Growth Cone Motility51
10.7WASL, NCK1, CDC42, ACTR2
25
ErbB1 downstream signaling37
10.7ACTR2, CDC42, WASF2, WASL
26
TCR signaling in naive CD4+ T cells37
10.6WAS, NCK1, CDC42
27
G13 Signaling Pathway37
10.6WASL, WAS, CDC42
28
BDNF signaling pathway37
10.6DOCK3, NCK1, CDC42
29
Cytoskeleton remodeling Reverse signaling by ephrin B
Hide members
10.6ACTR2, WASL, WIPF1
30
Cell adhesion Ephrins signaling
Hide members
10.6CDC42, NCK1, WASL
31
ICos-ICosL Pathway in T-Helper Cell51
Hide members
10.6WAS, CDC42, ACTR2
32
Signaling by Slit51
10.6WASL, CDC42, ACTR2
33
Cell adhesion Cadherin-mediated cell adhesion12
10.6WASL, CDC42, ACTR2
34
Nephrin interactions53
10.6NCK1, WASL
35
Nephrin/Neph1 signaling in the kidney podocyte37
10.6NCK1, WASL
36
Cytoskeleton remodeling Role of PDGFs in cell migration
Hide members
10.6CDC42, WASL

Compounds for genes affiliated with Wiskott-Aldrich Syndrome

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44Novoseek, 59Tocris Bioscience
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Compounds related to Wiskott-Aldrich Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1tyrosine4411.1WASL, WASF2, WAS, SNX9, NCK1, TRIP10
2proline4410.9WIPF1, WASL, WAS, TFE3, NCK1, BTK
3pip24410.9CDC42, BTK, NCK1, WAS, WASL
4wiskostatin4410.8WASL, WAS, CDC42
5phosphatidylinositol4410.7WAS, NCK1, BTK, CDC42, WASL
6latex4410.7WASL, WAS, CDC42
7phosphoinositide4410.6WASL, NCK1, BTK, CDC42
8jasplakinolide44 5911.6CDC42, WASL
9cytochalasin d44 5911.3CDC42, WAS, WASL

GO Terms for genes affiliated with Wiskott-Aldrich Syndrome

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16Gene Ontology
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Cellular components related to Wiskott-Aldrich Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytosolGO:00582911.1WIPF1, WASL, WASF2, WAS, NCKIPSD, NCK1
2actin cytoskeletonGO:01562910.9ACTR2, WIPF1, WASF1, WASL, WASF2, WAS
3actin capGO:03047810.6ACTR2, WASL
4ruffleGO:00172610.6WIPF1, WASF2, SNX9
5lamellipodiumGO:03002710.6WASF3, WASF2, WASL
6vesicle membraneGO:01250610.5NCK1, WAS
7cytoplasmic membrane-bounded vesicleGO:01602310.3SNX9, WASL, WIPF1

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1innate immune responseGO:04508711.3WIPF1, WASL, WASF2, WAS, NCKIPSD, NCK1
2Fc-gamma receptor signaling pathway involved in phagocytosisGO:03809611.2ACTR2, WIPF1, WASL, WASF2, WAS, NCKIPSD
3protein complex assemblyGO:00646111.0WIPF1, WASF1, WASL, WAS, WASF3
4actin polymerization or depolymerizationGO:00815410.9WAS, WASL, WIPF1
5actin filament-based movementGO:03004810.8WIPF1, WASF2, WAS
6actin filament polymerizationGO:03004110.8WASF3, WAS, WASF1
7establishment or maintenance of cell polarityGO:00716310.8CDC42, ACTR2, SPN
8lamellipodium assemblyGO:03003210.8NCK1, WASF3, WASF2
9spindle localizationGO:05165310.6ACTR2, WASL
10actin cytoskeleton organizationGO:03003610.6CDC42, TRIP10, WASF2
11response to other organismGO:05170710.6WIPF1, NCK1
12cellular component movementGO:00692810.5ACTR2, WASL, WASF1
13small GTPase mediated signal transductionGO:00726410.4ARFRP1, DOCK3, TRIP10, CDC42

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

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:00551511.2WASF1, WASL, WASF2, WAS, ARFRP1, DOCK3
2actin bindingGO:00377910.6ACTR2, WIPF1, WASF1, WASL, WASF2, WAS

Products for genes affiliated with Wiskott-Aldrich Syndrome

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  • Antibodies
  • Proteins
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  • Antibodies

Sources for Wiskott-Aldrich 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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet
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