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WAS
MCID: WSK001
MIFTS: 79

Wiskott-Aldrich Syndrome (WAS) malady

Genetic diseases, Rare diseases, Immune diseases, Skin diseases, Blood diseases, Cancer diseases categories
129 symptoms, 18 genes, 20 tissues, 80 related diseases, clinical trials, genetic tests

Summaries for Wiskott-Aldrich Syndrome

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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 based summary: Wiskott-Aldrich Syndrome, also known as eczema-thrombocytopenia-immunodeficiency syndrome, is related to leukemia and thrombocytopenia, 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, bone marrow and t cells, 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.

OMIM:46 Wiskott-Aldrich syndrome is an X-linked recessive immunodeficiency characterized by thrombocytopenia, eczema, and... (301000) more...

Wikipedia:64 Wiskott?Aldrich syndrome (WAS) is a rare X-linked recessive disease characterized by eczema,... more...

Descriptions from OMIM:46 277970,600903,614493

Aliases & Classifications for Wiskott-Aldrich Syndrome

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Sources:
31LifeMap Discovery®, 9Disease Ontology, 10diseasecard, 22Genetics Home Reference, 46OMIM, 11DISEASES, 44Novoseek, 48Orphanet, 61UMLS, 42NIH Rare Diseases, 21GeneTests, 23GTR, 34MeSH, 56SNOMED-CT, 28ICD9CM, 39NCIt, 35MESH via Orphanet, 27ICD10 via Orphanet, 62UMLS via Orphanet, 26ICD10
See all sources

Wiskott-Aldrich Syndrome, Aliases & Descriptions:

Name: Wiskott-Aldrich Syndrome 31 9 10 22 46 11 44 48 61
Eczema-Thrombocytopenia-Immunodeficiency Syndrome 22 48 61
Wiskott Aldrich Syndrome 42 21 23
Immunodeficiency 2 42 22
Wiskott Syndrome 9 22
 
Was 42 48
Eczema Thrombocytopenia Immunodeficiency Syndrome 42
Aldrich Syndrome 42
Imd 2 42
Imd2 22


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Cancer diseases
Anatomical: Immune diseases, Skin diseases, Blood diseases
ICD10: 27 26
Orphanet: 48 
Rare skin diseases
Rare haematological diseases
Rare immunological diseases
Rare tumors


Characteristics (Orphanet epidemiological data):

48
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


External Ids:

Disease Ontology9 DOID:9169
ICD9CM28 279.12
NCIt39 C3448
SNOMED-CT56 36070007
MESH via Orphanet35 D014923
ICD10 via Orphanet27 D82.0
UMLS via Orphanet62 C0043194
ICD1026 D82.0

Related Diseases for Wiskott-Aldrich Syndrome

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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 80)
idRelated DiseaseScoreTop Affiliating Genes
1leukemia29.7SPN, NCK1, CDC42, NCKIPSD, BTK
2thrombocytopenia11.0
3x-linked thrombocytopenia10.9
4aneurysm10.8
5hematopoietic stem cell transplantation10.7
6neuronitis10.7
7herpes simplex10.6
8hodgkin's lymphoma10.6
9aortic aneurysm10.6
10colitis10.6
11purpura10.6
12thoracic aortic aneurysm10.5
13dermatitis10.5
14wiskott-aldrich syndrome 210.5
15b-cell lymphomas10.4
16glomerulonephritis10.4
17lymphomatoid granulomatosis10.4
18neutropenia10.4
19non-hodgkin lymphoma10.4
20progressive multifocal leukoencephalopathy10.4
21thrombotic thrombocytopenic purpura10.4
22atopic dermatitis10.4
23vasculitis10.4
24primary immunodeficiency disease10.4
25alzheimer's disease10.3
26arthritis10.3
27common variable immunodeficiency10.3
28diffuse large b-cell lymphoma10.3
29follicular lymphoma10.3
30hepatitis10.3
31hepatocellular carcinoma10.3
32juvenile myelomonocytic leukemia10.3
33renal cell carcinoma10.3
34ulcerative colitis10.3
35autoimmune thyroiditis10.3
36iga glomerulonephritis10.3
37platelet storage pool deficiency10.3
38pharyngitis10.3
39sclerosing cholangitis10.3
40eclampsia10.3
41kawasaki disease10.3
42juvenile xanthogranuloma10.3
43neurofibromatosis10.3
44lymphoplasmacytic lymphoma10.3
45molluscum contagiosum10.3
46ileocolitis10.3
47intussusception10.3
48kaposi's sarcoma10.3
49vaccinia10.3
50cerebritis10.3

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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Symptoms by clinical synopsis from OMIM:

277970

Clinical features from OMIM:

301000,277970,600903,614493

Symptoms:

 48 (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 79)
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 autosomal recessive inheritance HP:0000007
41 eczema HP:0000964
42 purpura HP:0000979
43 thrombocytopenia HP:0001873
44 hematochezia HP:0002573
45 neoplasm HP:0002664
46 abnormality of the immune system HP:0002715
47 decreased mean platelet volume HP:0005537
48 nephropathy HP:0000112
49 gingival bleeding HP:0000225
50 sinusitis HP:0000246
51 otitis media HP:0000388
52 epistaxis HP:0000421
53 eczema HP:0000964
54 petechiae HP:0000967
55 purpura HP:0000979
56 meningitis HP:0001287
57 x-linked recessive inheritance HP:0001419
58 thrombocytopenia HP:0001873
59 hemolytic anemia HP:0001878
60 lymphopenia HP:0001888
61 iron deficiency anemia HP:0001891
62 reduced lymphocyte surface expression of cd43 (sialophorin) HP:0001983
63 diarrhea HP:0002014
64 inflammation of the large intestine HP:0002037
65 pneumonia HP:0002090
66 hematemesis HP:0002248
67 melena HP:0002249
68 recurrent lower respiratory tract infections HP:0002783
69 recurrent upper respiratory tract infections HP:0002788
70 specific anti-polysaccharide antibody deficiency HP:0002848
71 igm deficiency HP:0002850
72 abnormal delayed hypersensitivity skin test HP:0002963
73 absent microvilli on the surface of peripheral blood lymphocytes HP:0002971
74 prolonged bleeding time HP:0003010
75 increased ige level HP:0003212
76 increased iga level HP:0003261
77 large vessel vasculitis HP:0005310
78 decreased mean platelet volume HP:0005537
79 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
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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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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MalaCards organs/tissues related to Wiskott-Aldrich Syndrome:

32
Bone, Bone marrow, T cells, Skin, Spleen, B cells, Lung, Neutrophil, Nk cells, Smooth muscle, Breast, Eye, 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:

36
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 548)
idTitleAuthorsYear
1
Lentiviral hematopoietic stem cell gene therapy in patients with wiskott-Aldrich syndrome. (25363993)
2014
2
Disruption of hSWI/SNF-Complexes in T cells by WAS Mutations Distinguishes X-linked Thrombocytopenia from Wiskott-Aldrich Syndrome. (25253772)
2014
3
Mycolactone activation of Wiskott-Aldrich syndrome proteins underpins Buruli ulcer formation. (23549080)
2013
4
Wiskott-Aldrich syndrome caused by a new mutation associated with multifocal dermal juvenile xanthogranulomas. (23157619)
2013
5
Endovascular repair of descending thoracic aortic aneurysm in patient with Wiskott-Aldrich syndrome. (23643280)
2013
6
Use of zinc-finger nucleases to knock out the WAS gene in K562 cells: a human cellular model for Wiskott-Aldrich syndrome. (23324327)
2013
7
c-Src and neural Wiskott-Aldrich syndrome protein (N-WASP) promote low oxygen-induced accelerated brain invasion by gliomas. (24069415)
2013
8
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
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 (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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UniProtKB/Swiss-Prot genetic disease variations for Wiskott-Aldrich Syndrome:

63 (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:

7 (show all 19)
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
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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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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Pathways related to Wiskott-Aldrich Syndrome according to GeneCards/GeneDecks:

(show all 44)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Translocation of ZAP-70 to Immunological synapse54
Show member pathways
10.0WAS, NCK1
2
Signaling by Robo receptor54
Show member pathways
10.0CDC42, NCK1
3
Cytoskeleton remodeling Role of PDGFs in cell migration59
Show member pathways
PDGF Pathway37
9.9CDC42, WASL
4
Nephrin/Neph1 signaling in the kidney podocyte37
9.9WASL, NCK1
5
Nephrin interactions54
9.9NCK1, WASL
6
E-cadherin signaling in the nascent adherens junction37
9.9WASF2, CDC42
7
TCR signaling in naive CD4+ T cells37
Show member pathways
TCR signaling in naive CD8+ T cells37
9.8NCK1, CDC42, WAS
8
BDNF signaling pathway37
9.8CDC42, NCK1, DOCK3
9
G13 Signaling Pathway37
9.7WAS, CDC42, WASL
10
EPHB forward signaling37
Show member pathways
Cell adhesion Ephrins signaling59
MAP kinase cascade37
EphrinB-EPHB pathway37
9.7WASL, NCK1, CDC42
11
Netrin-1 signaling54
Show member pathways
9.7NCK1, CDC42, WASL
12
Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met)37
9.7CDC42, WASL, NCK1
13
EGFR1 Signaling Pathway37
9.7CDC42, NCK1, WASL
14
ICos-ICosL Pathway in T-Helper Cell52
Show member pathways
9.5WAS, ACTR2, CDC42
15
Class I MHC mediated antigen processing and presentation54
Show member pathways
9.5WAS, NCK1, CDC42, BTK
16
Immune response Fc epsilon RI pathway59
Show member pathways
Immune response BCR pathway59
Fc-epsilon receptor I signaling in mast cells37
9.5CDC42, NCK1, BTK, WIPF1
17
RhoGDI Pathway52
Show member pathways
9.4CDC42, WASL, ACTR2
18
Signaling by Slit52
9.4ACTR2, WASL, CDC42
19
Cell adhesion Cadherin mediated cell adhesion59
9.4WASL, ACTR2, CDC42
20
Immune response Role of DAP12 receptors in NK cells59
Show member pathways
Immune response CD16 signaling in NK cells59
9.3WIPF1, CDC42, WAS, ACTR2
21
B Cell Receptor Signaling Pathway37
Show member pathways
BCR signaling pathway37
TCR Signaling Pathway37
9.2PSTPIP1, CDC42, NCK1, WAS, BTK
22
B Cell Receptor Signaling Pathway37
9.2ACTR2, BTK, WAS, NCK1
23
fMLP Pathway52
Show member pathways
Signal transduction Activation of PKC via G Protein coupled receptor59
9.2ACTR2, WAS, WASF1, CDC42
24
Salmonella infection30
Show member pathways
9.2WASF1, WAS, ACTR2, CDC42
25
Guidance Cues and Growth Cone Motility52
9.2NCK1, ACTR2, WASL, CDC42
26
Apoptotic Pathways in Synovial Fibroblasts52
Show member pathways
9.1CDC42, ACTR2, WASF1, WASL
27
ErbB1 downstream signaling37
9.1WASL, WASF2, ACTR2, CDC42
28
Bacterial invasion of epithelial cells30
9.1WASF2, CDC42, WASF1, WASL, WAS
29
Salmonella infection30
Show member pathways
9.1WASL, WAS, WASF1, WASF2, CDC42
30
Regulation of Actin Cytoskeleton37
Show member pathways
9.1CDC42, WASF2, WASF1, WAS, WASL
31
Development Slit Robo signaling59
Show member pathways
Neurophysiological process Receptor mediated axon growth repulsion59
Pathogenic Escherichia coli infection37
9.0CDC42, WASL, WAS, NCK1, ACTR2
32
EphB-EphrinB Signaling52
Show member pathways
Cytoskeleton remodeling Reverse signaling by ephrin B59
9.0WASL, WIPF1, ACTR2, NCK1, CDC42
33
Integrin Pathway52
Show member pathways
8.9BTK, WAS, CDC42, ACTR2, WASF1
34
Cell adhesion Integrin mediated cell adhesion and migration59
Show member pathways
Cytoskeleton remodeling Fibronectin binding integrins in cell motility59
Cytoskeleton remodeling Integrin outside in signaling59
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases59
Cell adhesion Tight junctions59
Development MAG dependent inhibition of neurite outgrowth59
8.9WAS, ACTR2, WASF1, CDC42, WASL
35
Fc gamma R-mediated phagocytosis30
8.9WAS, CDC42, WASF2, WASF3, WASF1, WASL
36
Adherens junction30
8.9WASF3, WAS, WASF1, WASL, CDC42, WASF2
37
CDC42 signaling events37
Show member pathways
RAC1 signaling pathway37
8.8WASF1, WASF2, WASL, ACTR2, CDC42
38
TCR signaling54
Show member pathways
8.7WASL, WAS, BTK, CDC42, NCK1, ACTR2
39
Actin Nucleation by ARP-WASP Complex52
Show member pathways
8.6WASF1, NCK1, CDC42, WAS, WASL, ACTR2
40
PAK Pathway52
Show member pathways
8.6ACTR2, WAS, WASF1, BTK, CDC42, WASL
41
ERK Signaling52
Show member pathways
8.6WASL, WASF3, CDC42, WASF1, ACTR2, BTK
42
Cytoskeletal Signaling5
8.4ACTR2, WASF2, WASF3, WAS, CDC42, NCK1
43
G protein signaling RAC1 in cellular process59
Show member pathways
Cytoskeleton remodeling CDC42 in cellular processes59
8.3WASF2, WAS, WASL, WASF1, ACTR2, CDC42
44
Fcgamma receptor (FCGR) dependent phagocytosis54
Show member pathways
7.2WAS, WASF3, CDC42, NCK1, NCKIPSD, WASF1

Compounds for genes affiliated with Wiskott-Aldrich Syndrome

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Sources:
44Novoseek, 60Tocris Bioscience
See all sources

Compounds related to Wiskott-Aldrich Syndrome according to GeneCards/GeneDecks:

(show all 11)
idCompoundScoreTop Affiliating Genes
1wiskostatin4410.0WASL, WAS, CDC42
2latex449.9WASL, WAS, CDC42
3jasplakinolide44 6010.8CDC42, WASL
4ionomycin449.8CDC42, BTK, WAS
5cytochalasin d44 6010.7WASL, WAS, CDC42
6phosphoinositide449.5CDC42, NCK1, BTK, WASL
7pip2449.4CDC42, NCK1, BTK, WAS, WASL
8proline449.4WIPF1, WASL, WAS, BTK, NCK1
9phosphatidylinositol449.3WASL, WAS, BTK, NCK1, CDC42
10serine448.3SPN, WAS, PSTPIP1, BTK, NCK1, CDC42
11tyrosine447.8SPN, 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/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:05170710.1NCK1, WIPF1
2T cell activationGO:04211010.0NCK1, WAS
3actin polymerization or depolymerizationGO:00815410.0WIPF1, WASL, WAS
4actin filament-based movementGO:03004810.0WASF2, WAS, WIPF1
5actin filament polymerizationGO:03004110.0WASF3, WASF1, WAS
6positive regulation of Arp2/3 complex-mediated actin nucleationGO:20006019.9WASF1, WAS, WASL
7lamellipodium morphogenesisGO:0726739.9WASF2, WASF1
8lamellipodium assemblyGO:0300329.8NCK1, WASF2, WASF3
9spindle localizationGO:0516539.8WASL, ACTR2
10Rac protein signal transductionGO:0166019.5WASF2, WASF1
11protein complex assemblyGO:0064619.5WIPF1, WASL, WAS, WASF1, WASF3
12cellular component movementGO:0069289.3WASL, WASF1, ACTR2
13establishment or maintenance of cell polarityGO:0071639.3SPN, ACTR2, CDC42
14actin cytoskeleton organizationGO:0300369.3CDC42, ACTR2, WASF2
15Fc-gamma receptor signaling pathway involved in phagocytosisGO:0380968.3CDC42, WIPF1, WASL, WAS, WASF2, ACTR2
16innate immune responseGO:0450877.8WIPF1, WASL, WAS, WASF2, PSTPIP1, ACTR2

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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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Wiskott-Aldrich Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet
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