Wiskott-Aldrich Syndrome disease: Malacards - Research Articles, Symptoms, Drugs, Genes, Clinical Trials

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 Download this MalaCard Expand all tables

Summaries for Wiskott-Aldrich Syndrome

Sources:
²²Genetics Home Reference, ⁴²NIH Rare Diseases, ⁴⁶OMIM, ⁶⁴Wikipedia, ³²MalaCards
See all sources

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

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

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Certain disorders involving the immune mechanism

Immunodeficiency associated with other major defects

Wiskott-Aldrich syndrome

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

OMIM⁴⁶ 301000, 277970, 600903 614493, more

MeSH³⁴ D014923, C538675

ICD9CM²⁸ 279.12

NCIt³⁹ C3448

SNOMED-CT⁵⁶ 36070007

MESH via Orphanet³⁵ D014923

ICD10 via Orphanet²⁷ D82.0

UMLS via Orphanet⁶² C0043194

ICD10²⁶ D82.0

UMLS⁶¹ C0043194

Related Diseases for Wiskott-Aldrich Syndrome

Sources:
¹⁸GeneCards, ¹⁹GeneDecks
See all sources

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)

id	Related Disease	Score	Top Affiliating Genes
1	leukemia	29.7	SPN, NCK1, CDC42, NCKIPSD, BTK
2	thrombocytopenia	11.0
3	x-linked thrombocytopenia	10.9
4	aneurysm	10.8
5	hematopoietic stem cell transplantation	10.7
6	neuronitis	10.7
7	herpes simplex	10.6
8	hodgkin's lymphoma	10.6
9	aortic aneurysm	10.6
10	colitis	10.6
11	purpura	10.6
12	thoracic aortic aneurysm	10.5
13	dermatitis	10.5
14	wiskott-aldrich syndrome 2	10.5
15	b-cell lymphomas	10.4
16	glomerulonephritis	10.4
17	lymphomatoid granulomatosis	10.4
18	neutropenia	10.4
19	non-hodgkin lymphoma	10.4
20	progressive multifocal leukoencephalopathy	10.4
21	thrombotic thrombocytopenic purpura	10.4
22	atopic dermatitis	10.4
23	vasculitis	10.4
24	primary immunodeficiency disease	10.4
25	alzheimer's disease	10.3
26	arthritis	10.3
27	common variable immunodeficiency	10.3
28	diffuse large b-cell lymphoma	10.3
29	follicular lymphoma	10.3
30	hepatitis	10.3
31	hepatocellular carcinoma	10.3
32	juvenile myelomonocytic leukemia	10.3
33	renal cell carcinoma	10.3
34	ulcerative colitis	10.3
35	autoimmune thyroiditis	10.3
36	iga glomerulonephritis	10.3
37	platelet storage pool deficiency	10.3
38	pharyngitis	10.3
39	sclerosing cholangitis	10.3
40	eclampsia	10.3
41	kawasaki disease	10.3
42	juvenile xanthogranuloma	10.3
43	neurofibromatosis	10.3
44	lymphoplasmacytic lymphoma	10.3
45	molluscum contagiosum	10.3
46	ileocolitis	10.3
47	intussusception	10.3
48	kaposi's sarcoma	10.3
49	vaccinia	10.3
50	cerebritis	10.3

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

Symptoms for Wiskott-Aldrich Syndrome

Sources:
⁴⁶OMIM, ⁵⁸The Human Phenotype Ontology, ⁴⁸Orphanet
See all sources

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

Sources:
⁴¹NIH Clinical Center, ⁶ClinicalTrials, ³¹LifeMap Discovery®, ⁶¹UMLS, ⁴⁰NDF-RT
See all sources

Drug clinical trials:

Search ClinicalTrials for Wiskott-Aldrich Syndrome

Search NIH Clinical Center for Wiskott-Aldrich Syndrome

Cell-based therapeutics:

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

Sources:
²¹GeneTests, ²³GTR
See all sources

Genetic tests related to Wiskott-Aldrich Syndrome:

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

Anatomical Context for Wiskott-Aldrich Syndrome

Sources:
³²MalaCards
See all sources

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

Sources:
³⁶MGI
See all sources

MGI Mouse Phenotypes related to Wiskott-Aldrich Syndrome:

³⁶

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	digestive/alimentary phenotype	MP:0005381	8.8	WASL, WAS, WASF1, BTK, CDC42
2	nervous system phenotype	MP:0003631	8.4	CDC42, NCK1, NCKIPSD, DOCK3, WASF2, WASF1
3	immune system phenotype	MP:0005387	8.3	SPN, WIPF1, WASL, WAS, DOCK3, PSTPIP1
4	hematopoietic system phenotype	MP:0005397	8.2	BTK, SPN, WIPF1, WASL, WAS, WASF3
5	cellular phenotype	MP:0005384	7.9	WASL, WAS, BTK, NCKIPSD, NCK1, CDC42

Publications for Wiskott-Aldrich Syndrome

Sources:
⁵¹PubMed
See all sources

Articles related to Wiskott-Aldrich Syndrome:

(show top 50) (show all 548)

id	Title	Authors	Year
1	Lentiviral hematopoietic stem cell gene therapy in patients with wiskott-Aldrich syndrome. (25363993)	Coleman A.... Gern J.E.	2014
2	Disruption of hSWI/SNF-Complexes in T cells by WAS Mutations Distinguishes X-linked Thrombocytopenia from Wiskott-Aldrich Syndrome. (25253772)	Sarkar K.... Vyas Y.M.	2014
3	Mycolactone activation of Wiskott-Aldrich syndrome proteins underpins Buruli ulcer formation. (23549080)	Guenin-MacAc L.... Demangel C.	2013
4	Wiskott-Aldrich syndrome caused by a new mutation associated with multifocal dermal juvenile xanthogranulomas. (23157619)	Jesenak M.... Banovcin P.	2013
5	Endovascular repair of descending thoracic aortic aneurysm in patient with Wiskott-Aldrich syndrome. (23643280)	Makar R.R.... Lambert D.	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)	Toscano M.G.... Martin F.	2013
7	c-Src and neural Wiskott-Aldrich syndrome protein (N-WASP) promote low oxygen-induced accelerated brain invasion by gliomas. (24069415)	Tang Z.... Fathallah-Shaykh H.M.	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)	Uenishi E.... Seino S.	2013
9	Wiskott-Aldrich syndrome with unusual clinical features similar to juvenile myelomonocytic leukemia. (22736231)	Sano H.... Kobayashi K.	2012
10	Autoimmunity in wiskott-Aldrich syndrome: an unsolved enigma. (22826711)	Catucci M.... Villa A.	2012
11	Occurrence of aortic aneurysms in 5 cases of Wiskott-Aldrich syndrome. (21262885)	Pellier I.... Fischer A.	2011
12	The Wiskott-Aldrich syndrome protein permits assembly of a focused immunological synapse enabling sustained T-cell receptor signaling. (21659358)	Calvez R.... DuprAc L.	2011
13	A novel mutation of the WAS gene in a patient with Wiskott-Aldrich syndrome presenting with recalcitrant viral warts. (20863667)	Kim J.K.... Kim D.H.	2010
14	Critical requirement for the Wiskott-Aldrich syndrome protein in Th2 effector function. (20032499)	Morales-Tirado V.... Fowell D.J.	2010
15	Stem-cell gene therapy for the Wiskott-Aldrich syndrome. (21067383)	Boztug K.... Klein C.	2010
16	Hematopoietic-specific lentiviral vectors circumvent cellular toxicity due to ectopic expression of Wiskott-Aldrich syndrome protein. (18240968)	Toscano M.G.... Martin F.	2008
17	Unprecedented diversity of genotypic revertants in lymphocytes of a patient with Wiskott-Aldrich syndrome. (18332229)	Davis B.R.... Michael Blaese R.	2008
18	Development of lentiviral gene therapy for Wiskott Aldrich syndrome. (18194074)	Galy A.... Thrasher A.J.	2008
19	Detection of 28 novel mutations in the Wiskott-Aldrich syndrome and X-linked thrombocytopenia based on multiplex PCR. (17400488)	Proust A.... Delaunay J.	2007
20	Wiskott-Aldrich syndrome protein is involved in alphaIIb beta3-mediated cell adhesion. (16582881)	Tsuboi S.... Ochs H.D.	2006
21	Lessons from the Wiskott-Aldrich syndrome. (17065636)	Puck J.M.... Candotti F.	2006
22	An electrostatic steering mechanism of Cdc42 recognition by Wiskott-Aldrich syndrome proteins. (16246732)	Hemsath L.... Ahmadian M.R.	2005
23	The adapter protein CrkII regulates neuronal Wiskott-Aldrich syndrome protein, actin polymerization, and tension development during contractile stimulation of smooth muscle. (15834156)	Tang D.D.... Gunst S.J.	2005
24	A novel splice site mutation in the WAS gene causes Wiskott-Aldrich syndrome in two siblings of a Saudi family. (15389128)	Abu-Amero K.K.... Al-Hamed M.H.	2004
25	Neural Wiskott-Aldrich syndrome protein is recruited to rafts and associates with endophilin A in response to epidermal growth factor. (12477732)	Otsuki M.... Takenawa T.	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)	Badour K.... Siminovitch K.A.	2003
27	Effects of ectopically expressed neuronal Wiskott-Aldrich syndrome protein domains on Rickettsia rickettsii actin-based motility. (12595475)	Harlander R.S.... Heinzen R.A.	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)	Luthi J.N.... Drachman J.G.	2003
29	Flow cytometric determination of intracytoplasmic Wiskott-Aldrich syndrome protein in peripheral blood lymphocyte subpopulations. (11792389)	Kawai S.... Tsuchiya S.	2002
30	Restoration of podosomes and chemotaxis in Wiskott-Aldrich syndrome macrophages following induced expression of WASp. (11950596)	Jones G.E.... Thrasher A.	2002
31	Wiskott-Aldrich syndrome protein is required for NK cell cytotoxicity and colocalizes with actin to NK cell-activating immunologic synapses. (12177428)	Orange J.S.... Strominger J.L.	2002
32	Structure of the N-WASP EVH1 domain-WIP complex: insight into the molecular basis of Wiskott-Aldrich Syndrome. (12437929)	Volkman B.F.... Lim W.A.	2002
33	Cdc42, Rac1, and the Wiskott-Aldrich syndrome protein are involved in the cytoskeletal regulation of B lymphocytes. (11493455)	Westerberg L.... Severinson E.	2001
34	Pneumatosis intestinalis in an infant undergoing bone marrow transplantation for Wiskott-Aldrich syndrome. (11560758)	UAskan D.... Tezcan I.	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)	Huang M.M.... Kohn D.B.	2000
36	Severe osteopenia with recurrent fractures after bone marrow transplant for Wiskott-Aldrich syndrome: a case report. (10823614)	Talkhani I.S.... O'Meara A.	2000
37	X-linked thrombocytopenia identified by flow cytometric demonstration of defective Wiskott-Aldrich syndrome protein in lymphocytes. (10691337)	Kanegane H.... Ochs H.D.	2000
38	WASP levels in platelets and lymphocytes of wiskott-aldrich syndrome patients correlate with cell dysfunction. (10570326)	Shcherbina A.... Remold-O'Donnell E.	1999
39	The cytoskeletal linker protein moesin: decreased levels in Wiskott-Aldrich syndrome platelets and identification of a cleavage pathway in normal platelets. (10444190)	Shcherbina A.... Remold-O'Donnell E.	1999
40	Spontaneous apoptosis in lymphocytes from patients with Wiskott-Aldrich syndrome: correlation of accelerated cell death and attenuated bcl-2 expression. (10572103)	Rawlings S.L.... Weinberg K.I.	1999
41	Wiskott-Aldrich syndrome: a gene, a multifunctional protein and the beginnings of an explanation. (9743991)	Kirchhausen T.	1998
42	Henoch-SchAPnlein purpura with immunoglobulin A nephropathy and abnormalities of immunoglobulin A in a Wiskott-Aldrich syndrome carrier. (9016903)	Lasseur C.... Combe C.	1997
43	Expression of Wiskott-Aldrich syndrome protein (WASP) gene during hematopoietic differentiation. (9207440)	Parolini O.... Knapp W.	1997
44	Wiskott-Aldrich syndrome protein (WASp) is a binding partner for c-Src family protein-tyrosine kinases. (8805332)	Banin S.... Gout I.	1996
45	WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia. (8528199)	Derry J.M.J.... Francke U.	1995
46	The UDP-galactose translocator gene is mapped to band Xp11.23-p11.22 containing the Wiskott-Aldrich syndrome locus. (8128316)	Hara T.... Kawakita M.	1993
47	Early bone marrow transplantation in an infant with Wiskott-Aldrich syndrome. (1793157)	Beard L.J.... Ferrante A.	1991
48	Molecular characterization of sialophorin (CD43), the lymphocyte surface sialoglycoprotein defective in Wiskott-Aldrich syndrome. (2784859)	Shelley C.S.... Whitehead D.A.S.	1989
49	IgA glomerulonephritis in Wiskott-Aldrich syndrome. (3251617)	DeSanto N.G.... Giordano C.	1988-1989
50	Hereditary X-linked thrombocytopenia maps to the same chromosomal region as the Wiskott-Aldrich syndrome. (2904289)	DonnAcr M.... Holmberg L.	1988

Genes related to Wiskott-Aldrich Syndrome

Sources:
¹⁸GeneCards, ¹antibodies-online, ⁴⁵Novus Biologicals, ⁴⁶OMIM, ⁷Clinvar, ⁴⁸Orphanet, ⁶³UniProtKB/Swiss-Prot, ²¹GeneTests
See all sources

Genes related to Wiskott-Aldrich Syndrome:

(show all 18)

- Elite gene

id	Symbol	Description	Score	Implication
1	WAS	Wiskott-Aldrich syndrome	20.79	Molecular basis known ⁴⁶ Pathogenic ⁷ Causative germline mutation ⁴⁸ Causative variation ⁶³ Genetic Tests ²¹ GeneCards inferred via : Publications, Summaries, Gene name, Disorders (show sections)
2	WIPF1	WAS/WASL interacting protein family, member 1	19.71	Pathogenic ⁷ Causative germline mutation ⁴⁸ GeneCards inferred via : Publications, Summaries, Gene name, Disorders (show sections)
3	WASF3	WAS protein family, member 3	18.54	GeneCards inferred via : Publications, Gene name, Disorders, Summaries (show sections)
4	CDC42	cell division cycle 42	17.37	GeneCards inferred via : Publications, Disorders, Summaries (show sections)
5	DOCK3	dedicator of cytokinesis 3	16.25	GeneCards inferred via : Summaries (show sections)
6	NCK1	NCK adaptor protein 1	15.05	GeneCards inferred via : Publications, Disorders (show sections)
7	PSTPIP1	proline-serine-threonine phosphatase interacting protein 1	13.94	GeneCards inferred via : Publications, Disorders (show sections)
8	BTK	Bruton agammaglobulinemia tyrosine kinase	12.83	GeneCards inferred via : Publications, Disorders (show sections)
9	WASL	Wiskott-Aldrich syndrome-like	11.90	GeneCards inferred via : Summaries, Publications, Gene name, Disorders, Functions (show sections)
10	WASF1	WAS protein family, member 1	10.77	GeneCards inferred via : Summaries, Publications, Gene name, Disorders (show sections)
11	WASF2	WAS protein family, member 2	9.66	GeneCards inferred via : Publications, Gene name, Disorders, Summaries (show sections)
12	NCKIPSD	NCK interacting protein with SH3 domain	8.54	GeneCards inferred via : Publications, Gene name, Disorders (show sections)
13	SNX9	sorting nexin 9	7.43	GeneCards inferred via : Publications, Gene name, Disorders, Summaries (show sections)
14	WASF4P	WAS protein family, member 4, pseudogene	6.27	GeneCards inferred via : Summaries (show sections)
15	WASF5P	WAS protein family, member 5, pseudogene	5.16	GeneCards inferred via : Summaries (show sections)
16	SPN	sialophorin	3.94	GeneCards inferred via : Publications, Disorders (show sections)
17	ARFRP1	ADP-ribosylation factor related protein 1	2.83	GeneCards inferred via : Publications, Disorders (show sections)
18	ACTR2	ARP2 actin-related protein 2 homolog (yeast)	1.72	GeneCards inferred via : Publications, Disorders (show sections)

Products for genes related to Wiskott-Aldrich Syndrome disease:

id	Company	Proteins	Lysates	Antibodies	Kits and Assays
1	Antibodies-online	15	-	17	16
2	Novus Biologicals	15	14	17	-

Variations for Wiskott-Aldrich Syndrome

Sources:
⁶³UniProtKB/Swiss-Prot, ⁷Clinvar, ⁸dbSNP
See all sources

UniProtKB/Swiss-Prot genetic disease variations for Wiskott-Aldrich Syndrome:

⁶³ (show all 19)

id	Symbol	AA change	Variation ID	SNP ID
1	WAS	p.Glu31Lys	VAR_005825
2	WAS	p.Ser82Pro	VAR_005829
3	WAS	p.Arg86His	VAR_005830
4	WAS	p.Arg86Leu	VAR_005831
5	WAS	p.Arg86Cys	VAR_005832
6	WAS	p.Trp97Cys	VAR_005833
7	WAS	p.Glu131Lys	VAR_005834	rs146220228
8	WAS	p.Glu133Lys	VAR_005835
9	WAS	p.Gly187Cys	VAR_005836
10	WAS	p.Lys476Glu	VAR_005838
11	WAS	p.Cys43Trp	VAR_008105
12	WAS	p.Thr45Met	VAR_008106
13	WAS	p.Cys73Arg	VAR_008107
14	WAS	p.Phe84Leu	VAR_008109
15	WAS	p.Gly89Asp	VAR_008110
16	WAS	p.Gln52His	VAR_012710
17	WAS	p.Gly70Trp	VAR_012711
18	WAS	p.Pro58Leu	VAR_022806
19	WAS	p.Ala134Thr	VAR_022807

Clinvar genetic disease variations for Wiskott-Aldrich Syndrome:

⁷ (show all 19)

id	Gene	Name	Type	Significance	SNP ID	Assembly	Location
1	WAS	WAS, 1-BP DEL, 211T	deletion	Pathogenic
2	WAS	NM_000377.2(WAS): c.257G> T (p.Arg86Leu)	single nucleotide variant	Pathogenic	rs132630268	GRCh37	Chr X, 48542796: 48542796
3	WAS	NM_000377.2(WAS): c.257G> A (p.Arg86His)	single nucleotide variant	Pathogenic	rs132630268	GRCh37	Chr X, 48542796: 48542796
4	WAS	NM_000377.2(WAS): c.100C> T (p.Arg34Ter)	single nucleotide variant	Pathogenic	rs132630271	GRCh37	Chr X, 48542342: 48542342
5	WAS	NM_000377.2(WAS): c.1A> T (p.Met1Leu)	single nucleotide variant	Pathogenic		GRCh37	Chr X, 48542243: 48542243
6	WAS	NM_000377.2(WAS): c.395_400dupACGAGG (p.Glu133_Ala134insAspGlu)	duplication	Pathogenic		GRCh37	Chr X, 48544157: 48544162
7	WAS	NM_000377.2(WAS): c.1097delG (p.Gly366Alafs)	deletion	Pathogenic		GRCh37	Chr X, 48547214: 48547214
8	WAS	WAS, 15,800-BP DEL	deletion	Pathogenic
9	WAS	WAS, IVS6DS, G-A, +5	single nucleotide variant	Pathogenic
10	WAS	WAS, IVS6AS, G-A, -1	single nucleotide variant	Pathogenic
11	WAS	WAS, IVS6DS, T-G, +2	single nucleotide variant	Pathogenic
12	WAS	NM_000377.2(WAS): c.11delG (p.Gly4Alafs)	deletion	Pathogenic		GRCh37	Chr X, 48542253: 48542253
13	WAS	WAS, 2-BP DEL, 73AC	deletion	Pathogenic
14	WAS	WAS, 1-BP DEL, 758A	deletion	Pathogenic
15	WAS	WAS, 1-BP DEL, CODON 241, C	deletion	Pathogenic
16	WIPF1	WIPF1, SER434TER	single nucleotide variant	Pathogenic
17	WAS	NM_000377.2(WAS): c.310C> T (p.Gln104Ter)	single nucleotide variant	Likely pathogenic	rs193922414	GRCh37	Chr X, 48543972: 48543972
18	WAS	NM_000377.2(WAS): c.37C> T (p.Arg13Ter)	single nucleotide variant	Pathogenic	rs193922415	GRCh37	Chr X, 48542279: 48542279
19	WAS	NM_000377.2(WAS): c.763dupC (p.Gln255Profs)	duplication	Likely pathogenic	rs193922416	GRCh37	Chr X, 48546471: 48546472

Expression for genes affiliated with Wiskott-Aldrich Syndrome

Sources:
²BioGPS, ¹⁶Gene Expression Omnibus DataSets
See all sources

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

Sources:
⁴⁹PathCards, ⁵⁴Reactome, ⁵⁹Thomson Reuters, ³⁷NCBI BioSystems Database, ⁵²QIAGEN, ³⁰KEGG, ⁵³R&D Systems, ¹³EMD Millipore, ⁵Cell Signaling Technology
See all sources

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

(show all 44)

id	Super pathways (with members indented)	Score	Top Affiliating Genes
1	Translocation of ZAP-70 to Immunological synapse⁵⁴ Show member pathways Generation of second messenger molecules⁵⁴ PD-1 signaling⁵⁴ Phosphorylation of CD3 and TCR zeta chains⁵⁴	10.0	WAS, NCK1
2	Signaling by Robo receptor⁵⁴ Show member pathways Regulation of Commissural axon pathfinding by Slit and Robo⁵⁴ Inactivation of Cdc42 and Rac⁵⁴ Activation of Rac⁵⁴ Role of Abl in Robo-Slit signaling⁵⁴	10.0	CDC42, NCK1
3	Cytoskeleton remodeling Role of PDGFs in cell migration⁵⁹ Show member pathways PDGF Pathway³⁷	9.9	CDC42, WASL
4	Nephrin/Neph1 signaling in the kidney podocyte³⁷	9.9	WASL, NCK1
5	Nephrin interactions⁵⁴	9.9	NCK1, WASL
6	E-cadherin signaling in the nascent adherens junction³⁷	9.9	WASF2, CDC42
7	TCR signaling in naive CD4+ T cells³⁷ Show member pathways TCR signaling in naive CD8+ T cells³⁷	9.8	NCK1, CDC42, WAS
8	BDNF signaling pathway³⁷	9.8	CDC42, NCK1, DOCK3
9	G13 Signaling Pathway³⁷	9.7	WAS, CDC42, WASL
10	EPHB forward signaling³⁷ Show member pathways Cell adhesion Ephrins signaling⁵⁹ MAP kinase cascade³⁷ EphrinB-EPHB pathway³⁷	9.7	WASL, NCK1, CDC42
11	Netrin-1 signaling⁵⁴ Show member pathways DCC mediated attractive signaling⁵⁴ Netrin mediated repulsion signals⁵⁴ Role of second messengers in netrin-1 signaling⁵⁴	9.7	NCK1, CDC42, WASL
12	Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met)³⁷	9.7	CDC42, WASL, NCK1
13	EGFR1 Signaling Pathway³⁷	9.7	CDC42, NCK1, WASL
14	ICos-ICosL Pathway in T-Helper Cell⁵² Show member pathways CD28 Signaling in T-Helper Cell⁵² Calcium Mediated T-Cell Apoptosis⁵²	9.5	WAS, ACTR2, CDC42
15	Class I MHC mediated antigen processing and presentation⁵⁴ Show member pathways Ubiquitin mediated proteolysis³⁰ Antigen processing- Ubiquitination and Proteasome degradation⁵⁴ Adaptive Immune System⁵⁴	9.5	WAS, NCK1, CDC42, BTK
16	Immune response Fc epsilon RI pathway⁵⁹ Show member pathways VEGF - VEGF R2 Signaling Pathways⁵³ VEGF signaling pathway³⁰ Immune response BCR pathway⁵⁹ Fc epsilon RI signaling pathway³⁰ Fc-epsilon receptor I signaling in mast cells³⁷	9.5	CDC42, NCK1, BTK, WIPF1
17	RhoGDI Pathway⁵² Show member pathways Fc-GammaR-Mediated Phagocytosis in Macrophages⁵²	9.4	CDC42, WASL, ACTR2
18	Signaling by Slit⁵²	9.4	ACTR2, WASL, CDC42
19	Cell adhesion Cadherin mediated cell adhesion⁵⁹	9.4	WASL, ACTR2, CDC42
20	Immune response Role of DAP12 receptors in NK cells⁵⁹ Show member pathways Immune response CD16 signaling in NK cells⁵⁹ Natural killer cell mediated cytotoxicity³⁰	9.3	WIPF1, CDC42, WAS, ACTR2
21	B Cell Receptor Signaling Pathway³⁷ Show member pathways B cell receptor signaling pathway³⁰ BCR signaling pathway³⁷ TCR Signaling Pathway³⁷ T cell receptor signaling pathway³⁰	9.2	PSTPIP1, CDC42, NCK1, WAS, BTK
22	B Cell Receptor Signaling Pathway³⁷	9.2	ACTR2, BTK, WAS, NCK1
23	fMLP Pathway⁵² Show member pathways CXCR4 Pathway⁵² Alpha-Adrenergic Signaling⁵² Huntington's Disease Pathway⁵² CCR3 Pathway in Eosinophils⁵² VEGF and S-1P Signaling⁵² Internalin Pathway⁵² Signal transduction Activation of PKC via G Protein coupled receptor⁵⁹	9.2	ACTR2, WAS, WASF1, CDC42
24	Salmonella infection³⁰ Show member pathways Salmonella Infection⁵²	9.2	WASF1, WAS, ACTR2, CDC42
25	Guidance Cues and Growth Cone Motility⁵²	9.2	NCK1, ACTR2, WASL, CDC42
26	Apoptotic Pathways in Synovial Fibroblasts⁵² Show member pathways Actin-Based Motility by Rho Family GTPases⁵² PPAR Pathway⁵² Cellular Apoptosis Pathway⁵² Rac1 Pathway⁵² Glioma Invasiveness⁵² eIF2 Pathway⁵² ERK5 Signaling⁵² p53 Mediated Apoptosis⁵² Mitochondrial Apoptosis⁵² Rap1 Pathway⁵² Telomerase Components in Cell Signaling⁵² Nuclear Receptor Activation by Vitamin-A⁵² DHA Signaling⁵²	9.1	CDC42, ACTR2, WASF1, WASL
27	ErbB1 downstream signaling³⁷	9.1	WASL, WASF2, ACTR2, CDC42
28	Bacterial invasion of epithelial cells³⁰	9.1	WASF2, CDC42, WASF1, WASL, WAS
29	Salmonella infection³⁰ Show member pathways Shigellosis³⁰	9.1	WASL, WAS, WASF1, WASF2, CDC42
30	Regulation of Actin Cytoskeleton³⁷ Show member pathways Regulation of actin cytoskeleton³⁰	9.1	CDC42, WASF2, WASF1, WAS, WASL
31	Development Slit Robo signaling⁵⁹ Show member pathways Neurophysiological process Receptor mediated axon growth repulsion⁵⁹ Pathogenic Escherichia coli infection³⁷ Cytoskeleton remodeling Slit Robo signaling¹³ Pathogenic Escherichia coli infection³⁰	9.0	CDC42, WASL, WAS, NCK1, ACTR2
32	EphB-EphrinB Signaling⁵² Show member pathways Ephrin-Eph Signaling⁵² Cytoskeleton remodeling Reverse signaling by ephrin B⁵⁹	9.0	WASL, WIPF1, ACTR2, NCK1, CDC42
33	Integrin Pathway⁵² Show member pathways Inhibition of Angiogenesis by TSP1⁵² Transendothelial Migration of Leukocytes⁵² FAK1 Signaling⁵² GnRH Signaling⁵² UPA-UPAR Pathway⁵²	8.9	BTK, 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	8.9	WAS, ACTR2, WASF1, CDC42, WASL
35	Fc gamma R-mediated phagocytosis³⁰	8.9	WAS, CDC42, WASF2, WASF3, WASF1, WASL
36	Adherens junction³⁰	8.9	WASF3, WAS, WASF1, WASL, CDC42, WASF2
37	CDC42 signaling events³⁷ Show member pathways RAC1 signaling pathway³⁷	8.8	WASF1, WASF2, WASL, ACTR2, CDC42
38	TCR signaling⁵⁴ Show member pathways ITK and TCR Signaling⁵² PKC-Theta Pathway⁵² TCR Signaling⁵² PDGF Pathway⁵² Fc-EpsilonRI Pathway⁵²	8.7	WASL, WAS, BTK, CDC42, NCK1, ACTR2
39	Actin Nucleation by ARP-WASP Complex⁵² Show member pathways CDC42 Pathway⁵² RhoA Pathway⁵² Actin Nucleation and Branching⁵²	8.6	WASF1, NCK1, CDC42, WAS, WASL, ACTR2
40	PAK Pathway⁵² Show member pathways Epithelial Adherens Junctions⁵² Antioxidant Action of Vitamin-C⁵²	8.6	ACTR2, WAS, WASF1, BTK, CDC42, WASL
41	ERK Signaling⁵² Show member pathways ILK Signaling⁵² Molecular Mechanisms of Cancer⁵² Rho Family GTPases⁵² MAPK Signaling⁵²	8.6	WASL, WASF3, CDC42, WASF1, ACTR2, BTK
42	Cytoskeletal Signaling⁵	8.4	ACTR2, WASF2, WASF3, WAS, CDC42, NCK1
43	G protein signaling RAC1 in cellular process⁵⁹ Show member pathways Cytoskeleton remodeling CDC42 in cellular processes⁵⁹	8.3	WASF2, WAS, WASL, WASF1, ACTR2, CDC42
44	Fcgamma receptor (FCGR) dependent phagocytosis⁵⁴ Show member pathways Regulation of actin dynamics for phagocytic cup formation⁵⁴	7.2	WAS, WASF3, CDC42, NCK1, NCKIPSD, WASF1

Compounds for genes affiliated with Wiskott-Aldrich Syndrome

Sources:
⁴⁴Novoseek, ⁶⁰Tocris Bioscience
See all sources

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

(show all 11)

id	Compound	Score	Top Affiliating Genes
1	wiskostatin⁴⁴	10.0	WASL, WAS, CDC42
2	latex⁴⁴	9.9	WASL, WAS, CDC42
3	jasplakinolide⁴⁴ ⁶⁰	10.8	CDC42, WASL
4	ionomycin⁴⁴	9.8	CDC42, BTK, WAS
5	cytochalasin d⁴⁴ ⁶⁰	10.7	WASL, WAS, CDC42
6	phosphoinositide⁴⁴	9.5	CDC42, NCK1, BTK, WASL
7	pip2⁴⁴	9.4	CDC42, NCK1, BTK, WAS, WASL
8	proline⁴⁴	9.4	WIPF1, WASL, WAS, BTK, NCK1
9	phosphatidylinositol⁴⁴	9.3	WASL, WAS, BTK, NCK1, CDC42
10	serine⁴⁴	8.3	SPN, WAS, PSTPIP1, BTK, NCK1, CDC42
11	tyrosine⁴⁴	7.8	SPN, WASL, WAS, WASF2, PSTPIP1, SNX9

GO Terms for genes affiliated with Wiskott-Aldrich Syndrome

Sources:
¹⁷Gene Ontology
See all sources

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

id	Name	GO ID	Score	Top Affiliating Genes
1	vesicle membrane	GO:012506	10.0	WAS, NCK1
2	SCAR complex	GO:031209	9.8	WASF2, WASF1
3	actin cap	GO:030478	9.8	ACTR2, WASL
4	uropod	GO:001931	9.7	PSTPIP1, SPN
5	ruffle	GO:001726	9.4	WASF2, SNX9, WIPF1
6	cytoplasmic membrane-bounded vesicle	GO:016023	9.3	WASL, SNX9, WIPF1
7	lamellipodium	GO:030027	9.2	PSTPIP1, WASF2, WASF3, WASF1, WASL
8	actin cytoskeleton	GO:015629	8.8	ACTR2, WASF2, WASF1, WAS, WIPF1, WASL
9	extracellular vesicular exosome	GO:070062	8.0	CDC42, SNX9, ACTR2, WASF2, WASL, WAS
10	cytosol	GO:005829	7.7	CDC42, WIPF1, WASL, WAS, NCK1, NCKIPSD

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

(show all 16)

id	Name	GO ID	Score	Top Affiliating Genes
1	response to other organism	GO:051707	10.1	NCK1, WIPF1
2	T cell activation	GO:042110	10.0	NCK1, WAS
3	actin polymerization or depolymerization	GO:008154	10.0	WIPF1, WASL, WAS
4	actin filament-based movement	GO:030048	10.0	WASF2, WAS, WIPF1
5	actin filament polymerization	GO:030041	10.0	WASF3, WASF1, WAS
6	positive regulation of Arp2/3 complex-mediated actin nucleation	GO:2000601	9.9	WASF1, WAS, WASL
7	lamellipodium morphogenesis	GO:072673	9.9	WASF2, WASF1
8	lamellipodium assembly	GO:030032	9.8	NCK1, WASF2, WASF3
9	spindle localization	GO:051653	9.8	WASL, ACTR2
10	Rac protein signal transduction	GO:016601	9.5	WASF2, WASF1
11	protein complex assembly	GO:006461	9.5	WIPF1, WASL, WAS, WASF1, WASF3
12	cellular component movement	GO:006928	9.3	WASL, WASF1, ACTR2
13	establishment or maintenance of cell polarity	GO:007163	9.3	SPN, ACTR2, CDC42
14	actin cytoskeleton organization	GO:030036	9.3	CDC42, ACTR2, WASF2
15	Fc-gamma receptor signaling pathway involved in phagocytosis	GO:038096	8.3	CDC42, WIPF1, WASL, WAS, WASF2, ACTR2
16	innate immune response	GO:045087	7.8	WIPF1, WASL, WAS, WASF2, PSTPIP1, ACTR2

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

id	Name	GO ID	Score	Top Affiliating Genes
1	small GTPase regulator activity	GO:005083	10.0	WASL, WAS
2	actin binding	GO:003779	8.0	ACTR2, WIPF1, WASL, WAS, WASF1, WASF3
3	protein binding	GO:005515	5.3	DOCK3, WASF2, WASF1, WAS, WASL, WIPF1