WAS
MCID: WSK001
MIFTS: 71

Wiskott-Aldrich Syndrome (WAS)

Categories: Blood diseases, Genetic diseases, Immune diseases, Rare diseases, Skin diseases

Aliases & Classifications for Wiskott-Aldrich Syndrome

MalaCards integrated aliases for Wiskott-Aldrich Syndrome:

Name: Wiskott-Aldrich Syndrome 56 12 74 25 58 73 36 29 13 54 6 43 15 37 39 71 32
Eczema-Thrombocytopenia-Immunodeficiency Syndrome 56 25 58 73
Immunodeficiency 2 56 52 25 73
Was 56 52 58 73
Aldrich Syndrome 56 52 73
Imd2 56 25 73
Wiskott-Aldrich Syndrome 1 56 73
Wiskott Syndrome 12 25
Was1 56 73
Eczema Thrombocytopenia Immunodeficiency Syndrome 52
Wiskott-Aldrich Syndrome 1; Was1 56
Immunodeficiency 2; Imd2 56
Wiskott Aldrich Syndrome 52
Imd 2 52

Characteristics:

Orphanet epidemiological data:

58
wiskott-aldrich syndrome
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable,X-linked recessive; Prevalence: 1-9/1000000 (Europe),1-9/1000000 (France); Age of onset: Infancy,Neonatal; Age of death: any age;

OMIM:

56
Inheritance:
x-linked recessive


HPO:

31
wiskott-aldrich syndrome:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare skin diseases
Rare haematological diseases
Rare immunological diseases


Summaries for Wiskott-Aldrich Syndrome

Genetics Home Reference : 25 Wiskott-Aldrich syndrome is characterized by abnormal immune system function (immune deficiency), eczema (an inflammatory skin disorder characterized by abnormal patches of red, irritated skin), and a reduced ability to form blood clots. This condition primarily affects males. Individuals with Wiskott-Aldrich syndrome have microthrombocytopenia, which is a decrease in the number and size of blood cells involved in clotting (platelets). This platelet abnormality, which is typically present from birth, can lead to easy bruising, bloody diarrhea, or episodes of prolonged bleeding following nose bleeds or minor trauma. Microthrombocytopenia can also lead to small areas of bleeding just under the surface of the skin, resulting in purplish spots called purpura, or variably sized rashes made up of tiny red spots called petechiae. In some cases, particularly if a bleeding episode occurs within the brain, prolonged bleeding can be life-threatening. Wiskott-Aldrich syndrome is also characterized by abnormal or nonfunctional immune system cells known as white blood cells. Changes in white blood cells lead to an increased risk of several immune and inflammatory disorders in people with Wiskott-Aldrich syndrome. These immune problems vary in severity and include an increased susceptibility to infection from bacteria, viruses, and fungi. People with Wiskott-Aldrich syndrome are at greater risk of developing autoimmune disorders, such as rheumatoid arthritis, vasculitis, or hemolytic anemia. These disorder occur when the immune system malfunctions and attacks the body's own tissues and organs. The chance of developing certain types of cancer, such as cancer of the immune system cells (lymphoma), is also increased in people with Wiskott-Aldrich syndrome. Wiskott-Aldrich syndrome is often considered to be part of a disease spectrum with two other disorders: X-linked thrombocytopenia and severe congenital neutropenia. These conditions have overlapping signs and symptoms and the same genetic cause.

MalaCards based summary : Wiskott-Aldrich Syndrome, also known as eczema-thrombocytopenia-immunodeficiency syndrome, is related to immune deficiency disease and x-linked recessive disease, and has symptoms including diarrhea and petechiae of skin. An important gene associated with Wiskott-Aldrich Syndrome is WAS (WASP Actin Nucleation Promoting Factor), and among its related pathways/superpathways are Endocytosis and Regulation of actin cytoskeleton. The drugs Rho(D) Immune Globulin and Immunoglobulins, Intravenous have been mentioned in the context of this disorder. Affiliated tissues include bone, t cells and skin, and related phenotypes are chronic otitis media and recurrent respiratory infections

Disease Ontology : 12 A X-linked recessive disease that is characterized by abnormal immune system function and a reduced ability to form blood clots resulting from a decrease in the number and size of blood cell fragments involved in clotting (microthrombocytopenia).

NIH Rare Diseases : 52 Wiskott Aldrich syndrome (WAS) is a disease with immunological deficiency and reduced ability to form blood clots. Signs and symptoms include easy bruising or bleeding due to a decrease in the number and size of platelets ; susceptibility to infections and to immune and inflammatory disorders; and an increased risk for some cancers (such as lymphoma ). Also, a skin condition known as eczema is common in people with WAS. Wiskott Aldrich syndrome is caused by mutations in the WAS gene and is inherited in an X-linked manner. It primarily affects males. Treatment may depend on severity and symptoms in each person, but hematopoietic cell transplantation is the only known cure. Hematopoietic cells are the blood-forming stem cells that can be found mainly in the sponge-like material found inside bones (bone marrow), but also in the bloodstream (peripheral blood stem cells (PBSCs), and in the umbilical cord. Prognosis have improved over time due to better management of the disease. People who have a successful and uncomplicated hematopoeitic cell transplantation, usually have normal immune function and, normal survival. Wiskott-Aldrich syndrome, X-linked thrombocytopenia (XLT), and X-linked neutropenia (XLN) are known as "WAS -related disorders" because these diseases are all caused by mutations in the WAS gene, and have overlapping symptoms ranging from severe to mild (Wiskott-Aldrich syndrome is the most severe). The WAS gene mutations result in deficiency of the Wiskott-Aldrich syndrome protein (WASP). The more deficient the WASP, the more severe the disease.

OMIM : 56 Wiskott-Aldrich syndrome (WAS) is an X-linked recessive immunodeficiency characterized by thrombocytopenia, eczema, and recurrent infections (Lemahieu et al., 1999). (301000)

KEGG : 36 The Wiskott-Aldrich syndrome (WAS) is a rare X-linked recessive immunodeficiency disorder, caused by mutations in the Wiskott-Aldrich syndrome protein (WASP) gene, and characterised by thrombocytopenia, small platelets, eczema, and recurrent infections associated with increased risk of autoimmunity and malignancy disorders. Recent research suggested that the WIPF1-encoded protein WIP binds to the region of WASP which is frequently mutated in patients with this disease, and WIP mutations themselves lead to an immunological disorder resembling Wiskott-Aldrich syndrome.

UniProtKB/Swiss-Prot : 73 Wiskott-Aldrich syndrome: An X-linked recessive immunodeficiency characterized by eczema, thrombocytopenia, recurrent infections, and bloody diarrhea. Death usually occurs before age 10.

Wikipedia : 74 Wiskott-Aldrich syndrome (WAS) is a rare X-linked recessive disease characterized by eczema,... more...

Related Diseases for Wiskott-Aldrich Syndrome

Diseases in the Wiskott-Aldrich Syndrome family:

Wiskott-Aldrich Syndrome, Autosomal Dominant Form Wiskott-Aldrich Syndrome 2

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

(show top 50) (show all 272)
# Related Disease Score Top Affiliating Genes
1 immune deficiency disease 31.9 WIPF1 WAS SPN BTK
2 x-linked recessive disease 31.6 WASL WAS CDC42 BTK
3 agammaglobulinemia, x-linked 31.2 WAS SRC BTK
4 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 31.0 WASL WASF1 WAS
5 wiskott-aldrich syndrome 2 13.1
6 wiskott-aldrich syndrome, autosomal dominant form 12.6
7 ectodermal dysplasia and immunodeficiency 2 12.4
8 thrombocytopenia 1 12.0
9 storage pool platelet disease 11.6
10 ritscher-schinzel syndrome 1 11.6
11 specific antibody deficiency 11.6
12 immunodeficiency, common variable, 2 11.5
13 dermatitis 11.3
14 thrombocytopenia 11.3
15 amegakaryocytic thrombocytopenia, congenital 11.2
16 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 11.1
17 was-related disorders 11.0
18 neutropenia 10.8
19 autoimmune disease 10.8
20 graft-versus-host disease 10.8
21 vasculitis 10.8
22 purpura 10.8
23 dermatitis, atopic 10.8
24 aneurysm 10.7
25 hemolytic anemia 10.7
26 lymphoma 10.7
27 iga glomerulonephritis 10.7
28 acute graft versus host disease 10.7
29 lymphoproliferative syndrome 10.6
30 lymphopenia 10.6
31 combined t cell and b cell immunodeficiency 10.6
32 anemia, autoimmune hemolytic 10.6
33 b-cell lymphoma 10.6
34 splenomegaly 10.6
35 inflammatory bowel disease 10.6
36 thrombocytopenia due to platelet alloimmunization 10.6
37 herpes simplex 10.6
38 cytomegalovirus infection 10.6
39 severe congenital neutropenia 10.6
40 colitis 10.6
41 aortic aneurysm 10.6
42 aortitis 10.6
43 severe combined immunodeficiency 10.6
44 dependent personality disorder 10.6 WASF2 WASF1
45 cataract 25 10.5 WASF3 WASF1
46 barbiturate abuse 10.5 WASF3 WASF2 WASF1
47 histrionic personality disorder 10.5 WASF2 WASF1
48 dysthymic disorder 10.5 WASF3 WASF2 WASF1
49 narcissistic personality disorder 10.5 WASF2 WASF1
50 otitis media 10.5

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



Diseases related to Wiskott-Aldrich Syndrome

Symptoms & Phenotypes for Wiskott-Aldrich Syndrome

Human phenotypes related to Wiskott-Aldrich Syndrome:

58 31 (show top 50) (show all 74)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 chronic otitis media 58 31 hallmark (90%) Very frequent (99-80%) HP:0000389
2 recurrent respiratory infections 58 31 hallmark (90%) Very frequent (99-80%) HP:0002205
3 fever 58 31 hallmark (90%) Very frequent (99-80%) HP:0001945
4 immunodeficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0002721
5 sinusitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000246
6 thrombocytopenia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001873
7 spontaneous hematomas 58 31 hallmark (90%) Very frequent (99-80%) HP:0007420
8 chronic obstructive pulmonary disease 58 31 hallmark (90%) Very frequent (99-80%) HP:0006510
9 lymphopenia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001888
10 chronic diarrhea 58 31 hallmark (90%) Very frequent (99-80%) HP:0002028
11 bruising susceptibility 58 31 hallmark (90%) Very frequent (99-80%) HP:0000978
12 prolonged bleeding time 58 31 hallmark (90%) Very frequent (99-80%) HP:0003010
13 abnormal platelet morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0011875
14 fatigue 58 31 frequent (33%) Frequent (79-30%) HP:0012378
15 dyspnea 58 31 frequent (33%) Frequent (79-30%) HP:0002094
16 hemolytic anemia 58 31 frequent (33%) Frequent (79-30%) HP:0001878
17 autoimmunity 58 31 frequent (33%) Frequent (79-30%) HP:0002960
18 specific learning disability 58 31 frequent (33%) Frequent (79-30%) HP:0001328
19 inflammation of the large intestine 58 31 frequent (33%) Frequent (79-30%) HP:0002037
20 microcytic anemia 58 31 frequent (33%) Frequent (79-30%) HP:0001935
21 petechiae 58 31 frequent (33%) Frequent (79-30%) HP:0000967
22 hematemesis 58 31 frequent (33%) Frequent (79-30%) HP:0002248
23 hematochezia 58 31 frequent (33%) Frequent (79-30%) HP:0002573
24 abnormal eosinophil morphology 31 frequent (33%) HP:0001879
25 sudden cardiac death 58 31 occasional (7.5%) Occasional (29-5%) HP:0001645
26 arthritis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001369
27 nephropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000112
28 skin ulcer 58 31 occasional (7.5%) Occasional (29-5%) HP:0200042
29 peripheral neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0009830
30 gingival bleeding 58 31 occasional (7.5%) Occasional (29-5%) HP:0000225
31 urticaria 58 31 occasional (7.5%) Occasional (29-5%) HP:0001025
32 chest pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0100749
33 glomerulopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0100820
34 keratitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000491
35 blepharitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000498
36 intracranial hemorrhage 58 31 occasional (7.5%) Occasional (29-5%) HP:0002170
37 neutropenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001875
38 hypoplasia of the thymus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000778
39 lymphoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002665
40 epistaxis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000421
41 conjunctivitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000509
42 meningitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001287
43 sepsis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100806
44 abnormality of the menstrual cycle 58 31 occasional (7.5%) Occasional (29-5%) HP:0000140
45 eczema 58 31 occasional (7.5%) Occasional (29-5%) HP:0000964
46 acute leukemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002488
47 vasculitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002633
48 chronic leukemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0005558
49 recurrent intrapulmonary hemorrhage 58 31 occasional (7.5%) Occasional (29-5%) HP:0006535
50 abnormal platelet function 58 31 occasional (7.5%) Occasional (29-5%) HP:0011869

Symptoms via clinical synopsis from OMIM:

56
Genitourinary Kidneys:
nephropathy

Head And Neck Head:
sinusitis

Skin Nails Hair Skin:
purpura
eczema
petechiae

Head And Neck Ears:
otitis media

Neurologic Central Nervous System:
meningitis

Respiratory Lung:
pneumonia

Respiratory Airways:
upper respiratory tract infections
lower respiratory tract infections

Hematology:
hemolytic anemia
thrombocytopenia
iron deficiency anemia
small platelets size
small and large vessel vasculitis
more
Immunology:
lymphopenia
abnormal delayed hypersensitivity skin test
absent microvilli on the surface of peripheral blood lymphocytes
moderately depressed antibody response to polysaccharide antigens

Abdomen Gastrointestinal:
diarrhea
hematemesis
melena
inflammatory bowel disease

Head And Neck Nose:
epistaxis

Laboratory Abnormalities:
prolonged bleeding time
increased ige levels
reduced igm levels
normal igg levels
increased iga levels
more
Head And Neck Mouth:
oral bleeding

Clinical features from OMIM:

301000

UMLS symptoms related to Wiskott-Aldrich Syndrome:


diarrhea, petechiae of skin

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased cell migration GR00055-A-1 9.65 ACTR3 NCK1 RHOD WASF1 WASL
2 Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance GR00210-A 9.55 ACTR3 BTK CDC42 NCK1 WASF3
3 Decreased Salmonella enterica Typhimurium ruffling GR00133-A-5 9.13 ACTR2 ACTR3 CDC42
4 Decreased Salmonella-containing vacuole maturation GR00133-A-2 8.8 ACTR2 ACTR3 CDC42

Drugs & Therapeutics for Wiskott-Aldrich Syndrome

Drugs for Wiskott-Aldrich Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 85)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Rho(D) Immune Globulin Phase 4
2 Immunoglobulins, Intravenous Phase 4
3 gamma-Globulins Phase 4
4 Immunoglobulin G Phase 3
5
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
6
Lenograstim Approved, Investigational Phase 2 135968-09-1
7
Melphalan Approved Phase 2 148-82-3 4053 460612
8
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
9
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
10
leucovorin Approved Phase 2 58-05-9 6006 143
11
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
12
Mycophenolic acid Approved Phase 2 24280-93-1 446541
13
Vidarabine Approved, Investigational Phase 2 24356-66-9 32326 21704
14
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492 6473866
15
Hydroxyurea Approved Phase 2 127-07-1 3657
16
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
17
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
18
Busulfan Approved, Investigational Phase 2 55-98-1 2478
19
alemtuzumab Approved, Investigational Phase 2 216503-57-0
20
Phenylalanine Approved, Investigational, Nutraceutical Phase 2 63-91-2 6140
21
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
22
Emodepside Investigational, Vet_approved Phase 2 155030-63-0
23
Treosulfan Investigational Phase 2 299-75-2 9296
24 Plerixafor octahydrochloride Phase 2
25 Anti-Infective Agents Phase 2
26 Anti-Retroviral Agents Phase 2
27 Adjuvants, Immunologic Phase 2
28 Antiviral Agents Phase 2
29 Anti-HIV Agents Phase 2
30 Cyclosporins Phase 2
31 Antimetabolites Phase 2
32 Thymoglobulin Phase 1, Phase 2
33 Folic Acid Antagonists Phase 2
34 Antilymphocyte Serum Phase 1, Phase 2
35 Dermatologic Agents Phase 2
36 Folate Phase 2
37 Antifungal Agents Phase 2
38 Vitamin B9 Phase 2
39 Calcineurin Inhibitors Phase 2
40 Vitamin B Complex Phase 2
41 Antineoplastic Agents, Immunological Phase 2
42 Vidarabine Phosphate Phase 2
43 Antitubercular Agents Phase 2
44 Antibiotics, Antitubercular Phase 2
45 Anti-Bacterial Agents Phase 2
46 Immunologic Factors Phase 2
47 Alkylating Agents Phase 2
48 Antirheumatic Agents Phase 2
49 Immunosuppressive Agents Phase 2
50 Liver Extracts Phase 2

Interventional clinical trials:

(show all 38)
# Name Status NCT ID Phase Drugs
1 Evaluation of the Efficacy and Safety of Flebogamma 5% DIF [Immune Globulin Intravenous (Human)] for Replacement Therapy in Pediatric Subjects With Primary Immunodeficiency Diseases. Completed NCT00634569 Phase 4
2 A Phase IV, Multicenter, Open-Label Study to Evaluate the Efficacy, Safety and Pharmacokinetics of Gammaplex in Primary Immunodeficiency Diseases (PID) in Children and Adolescents Completed NCT01289847 Phase 4
3 A Phase III, Multicenter, Open-Label Study To Evaluate The Efficacy, Safety, and Pharmacokinetics of Gammaplex® in Primary Immunodeficiency Diseases Completed NCT00278954 Phase 3
4 IGIV-C 10% Rapid Infusion Trial in Primary Immune Deficient Patients Completed NCT00220766 Phase 3 Immune Globulin Intravenous [Human], 10% Caprylate/Chromatography Purified;Dextrose, 5% in Water
5 Phase I/II Clinical Trial of Haematopoietic Stem Cell Gene Therapy for the Wiskott-Aldrich Syndrome Completed NCT01347346 Phase 1, Phase 2
6 Phase I/II Clinical Trial of Haematopoietic Stem Cell Gene Therapy for the Wiskott-Aldrich Syndrome Completed NCT01347242 Phase 1, Phase 2
7 Phase I/II Study of Reduced Toxicity Myeloablative Conditioning Regimen for Wiskott-Aldrich Syndrome Completed NCT00885833 Phase 1, Phase 2 Fludarabine, Busulfan, Thymoglobulin
8 Phase I/II Trial Of Hematopoietic Stem Cell Transplant (HSCT) For Children With A Genetic Disease Of Blood Cells Without An HLA-Matched Sibling Donor Completed NCT00730314 Phase 1, Phase 2
9 A Phase II Trial of Reduced Intensity Allogeneic Stem Cell Transplantation With Fludarabine, Melphalan and Low Dose Total Body Irradiation Completed NCT01529827 Phase 2 fludarabine phosphate;melphalan;tacrolimus;mycophenolate mofetil;methotrexate
10 A Single Arm, Open-label Clinical Trial of Hematopoietic Stem Cell Gene Therapy With Cryopreserved Autologous CD34+ Cells Transduced With Lentiviral Vector Encoding WAS cDNA in Subjects With Wiskott-Aldrich Syndrome (WAS) Recruiting NCT03837483 Phase 2
11 Long Term Safety Follow up of Patients Enrolled in the Phase I/II Clinical Trial of Haematopoietic Stem Cell Gene Therapy for the Wiskott Aldrich Syndrome (GTG002-07 and GTG003-08). Recruiting NCT02333760 Phase 1, Phase 2
12 A Trial of Plerixafor With G-CSF as Additional Agents in Conditioning Regimen for Prevention of Graft Failure After Transplantation With TCR Alpha/Beta Grafts Depletion in Patients With Wiskott-Aldrich Syndrome. Recruiting NCT03019809 Phase 2
13 A Study of Hematopoietic Stem Cell Transplantation (HSCT) in Immune Function Disorders Using a Reduced Intensity Preparatory Regime Recruiting NCT01821781 Phase 2 Transplant preparative regimen of alemtuzumab, fludarabine, thiotepa, and melphalan
14 PEDS024, Phase I/II Feasibility Study of Busulfan Fludarabine and Thiotepa Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation (HSCT) for Children With Non-Malignant Disorders Recruiting NCT03513328 Phase 1, Phase 2 Thiotepa--single daily dose;Thiotepa--escalated dose
15 A Phase II Trial of Haploidentical Allogeneic Stem Cell Transplantation Utilizing Mobilized Peripheral Blood Stem Cells Recruiting NCT03333486 Phase 2 Cyclophosphamide;Fludarabine Phosphate
16 A Phase II Study of Reduced Intensity Conditioning in Pediatric Patients and Young Adults ≤40 Years of Age With Non-Malignant Disorders Undergoing Umbilical Cord Blood, Bone Marrow, or Peripheral Blood Stem Cell Transplantation Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
17 Allogeneic Hematopoietic Cell Transplantation for Patients With Nonmalignant Inherited Disorders Using a Treosulfan Based Preparative Regimen Recruiting NCT00919503 Phase 2 Cyclosporine;Fludarabine Phosphate;Methotrexate;Mycophenolate Mofetil;Tacrolimus;Treosulfan
18 A Phase I/II Clinical Trial of Hematopoietic Stem Cell Gene Therapy for the Wiskott-Aldrich Syndrome Active, not recruiting NCT01515462 Phase 1, Phase 2
19 Pilot and Feasibility Study of Hematopoietic Stem Cell Gene Transfer for the Wiskott-Aldrich Syndrome Active, not recruiting NCT01410825 Phase 1, Phase 2
20 Bilateral Orthotopic Lung Transplant in Tandem With CD3+ and CD19+ Cell Depleted Bone Marrow Transplant From Partially HLA-Matched Cadaveric Donors Enrolling by invitation NCT01852370 Phase 1, Phase 2
21 Effects Of Eltrombopag On Thrombocytopenia, Platelet Function and Bleeding In Patients With Wiskott-Aldrich Syndrome/X-Linked Thrombocytopenia. Terminated NCT00909363 Phase 2 Promacta
22 Protocol for Related Donor Hematopoietic Stem Cell Transplantation (HSCT) for Treatment of Symptomatic Genetic Lymphohematological Diseases Terminated NCT02512679 Phase 2 Cyclophosphamide Dose Level 1;Cyclophosphamide Dose Level 2;Cyclophosphamide Dose Level 3;Cyclophosphamide Dose Level 4
23 Haploidentical Hematopoietic Stem Cell Transplantation for Pediatric Patients With Wiskott-Aldrich Syndrome: A Pilot Study Completed NCT00160355 Phase 1 Fludarabine, Melphalan, Thiotepa
24 Reinstituting Natural Killer Cell Cytotoxicity and Cytoskeletal Dynamics in Wiskott-Aldrich Syndrome With IL-2 Therapy Completed NCT00774358 Phase 1 Interleukin-2
25 Abatacept for Post-Transplant Immune Suppression in Children and Adolescents Receiving Allogeneic Hematopoietic Stem Cell Transplants for Non-Malignant Diseases Active, not recruiting NCT01917708 Phase 1 Abatacept
26 Study of Genetic and Molecular Defects in Primary Immunodeficiency Disorders Unknown status NCT00004341
27 Prognostic Models for People With Stable Coronary Artery Disease Unknown status NCT01609465
28 Understanding of the Patient and Caregiver Experience of Wiskott-Aldrich Syndrome (WAS) Completed NCT03399461
29 Investigations of Megakaryocytes From Patients With Abnormal Platelet Vesicles Completed NCT00086476
30 Studies of Skin Microflora in Healthy Individuals and Atopic Dermatitis Patients Recruiting NCT00605878
31 NIH Participation to USIDNET Registry Recruiting NCT01953016
32 Allogeneic Hematopoietic Stem Cell Transplant for Patients With Primary Immune Deficiencies Recruiting NCT01652092 Alemtuzumab 0.3 mg;Cyclophosphamide;Busulfan;Fludarabine phosphate 40 mg;Melphalan;Alemtuzumab 0.2 mg;Busulfan;Fludarabine phosphate 30 mg;MESNA
33 Analysis of Patients Treated for Wiskott-Aldrich Syndrome Since January 1, 1990 (RDCRN PIDTC-6904) Active, not recruiting NCT02064933
34 Molecular and Clinical Studies of Primary Immunodeficiency Diseases Active, not recruiting NCT00006319
35 Post-transplant Cyclophosphamide for HLA-haploidentical Transplantation in Wiskott-Aldrich Syndrome Enrolling by invitation NCT03198195
36 Allogeneic Bone Marrow Transplantation in Patients With Primary Immunodeficiencies Terminated NCT00006054 anti-thymocyte globulin;busulfan;cyclophosphamide;cyclosporine;etoposide;methotrexate;methylprednisolone;prednisone
37 Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation for Children With Non-Malignant Diseases Who Have Been Multiply Transfused: a Pilot Study Terminated NCT01319851 Alefacept
38 Assessment of Immunogenicity of Zostavax® in Patients With Antibody Deficiency 60 Years of Age and Older Terminated NCT02960399

Search NIH Clinical Center for Wiskott-Aldrich Syndrome

Cell-based therapeutics:


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

Cochrane evidence based reviews: wiskott-aldrich syndrome

Genetic Tests for Wiskott-Aldrich Syndrome

Genetic tests related to Wiskott-Aldrich Syndrome:

# Genetic test Affiliating Genes
1 Wiskott-Aldrich Syndrome 29 WAS

Anatomical Context for Wiskott-Aldrich Syndrome

MalaCards organs/tissues related to Wiskott-Aldrich Syndrome:

40
Bone, T Cells, Skin, Bone Marrow, B Cells, Brain, Lung

Publications for Wiskott-Aldrich Syndrome

Articles related to Wiskott-Aldrich Syndrome:

(show top 50) (show all 2136)
# Title Authors PMID Year
1
A second-site mutation in the initiation codon of WAS (WASP) results in expansion of subsets of lymphocytes in an Wiskott-Aldrich syndrome patient. 54 61 56 6
16511828 2006
2
Wiskott-Aldrich syndrome: no strict genotype-phenotype correlations but clustering of missense mutations in the amino-terminal part of the WASP gene product. 54 61 56 6
8682510 1996
3
A possible bichromatid mutation in a male gamete giving rise to a female mosaic for two different mutations in the X-linked gene WAS. 61 56 6
17250667 2007
4
The genotype of the original Wiskott phenotype. 61 56 6
17065640 2006
5
Wiskott-Aldrich syndrome in a female. 61 56 6
12351383 2002
6
Somatic mosaicism in Wiskott--Aldrich syndrome suggests in vivo reversion by a DNA slippage mechanism. 61 56 6
11447283 2001
7
Genetic mapping of the Wiskott-Aldrich syndrome with two highly-linked polymorphic DNA markers. 61 56 6
2906042 1988
8
Clinical course of patients with WASP gene mutations. 54 61 6
12969986 2004
9
Identification of six novel WASP gene mutations in patients suffering from Wiskott-Aldrich syndrome. 54 61 6
10737997 2000
10
Identification of WASP mutations, mutation hotspots and genotype-phenotype disparities in 24 patients with the Wiskott-Aldrich syndrome. 54 61 56
8931701 1996
11
Wiskott-Aldrich syndrome protein, a novel effector for the GTPase CDC42Hs, is implicated in actin polymerization. 54 61 56
8625410 1996
12
The mouse homolog of the Wiskott-Aldrich syndrome protein (WASP) gene is highly conserved and maps near the scurfy (sf) mutation on the X chromosome. 54 61 56
8666397 1995
13
WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia. 54 61 6
8528199 1995
14
A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP. 61 6
22231303 2012
15
Stem-cell gene therapy for the Wiskott-Aldrich syndrome. 61 56
21067383 2010
16
Multiple independent second-site mutations in two siblings with somatic mosaicism for Wiskott-Aldrich syndrome. 61 56
18479478 2008
17
Clinical aspects and molecular analysis of Chinese patients with Wiskott-Aldrich syndrome in Taiwan. 61 6
17703096 2008
18
A familial case of Wiskott-Aldrich Syndrome with a hotspot mutation in exon 2 of the WAS Gene. 61 6
18162713 2007
19
Detection of 28 novel mutations in the Wiskott-Aldrich syndrome and X-linked thrombocytopenia based on multiplex PCR. 61 6
17400488 2007
20
Lessons from the Wiskott-Aldrich syndrome. 61 56
17065636 2006
21
Multiple patients with revertant mosaicism in a single Wiskott-Aldrich syndrome family. 61 56
15142877 2004
22
WAS-Related Disorders 61 6
20301357 2004
23
Second-site mutation in the Wiskott-Aldrich syndrome (WAS) protein gene causes somatic mosaicism in two WAS siblings. 61 56
12727931 2003
24
Identification and characterization of a novel splice-site mutation in a patient with Wiskott-Aldrich syndrome. 61 6
14566484 2003
25
X-linked thrombocytopenia in a girl. 61 6
12199801 2002
26
An Alu-mediated deletion at Xp11.23 leading to Wiskott-Aldrich syndrome. 61 6
12073025 2002
27
Epstein-Barr virus-associated hodgkin's disease in a patient with Wiskott-Aldrich syndrome. 61 56
11808913 2001
28
Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia. 61 56
11242115 2001
29
Determination of carrier status for the Wiskott-Aldrich syndrome by flow cytometric analysis of Wiskott-Aldrich syndrome protein expression in peripheral blood mononuclear cells. 61 56
10878391 2000
30
Novel mutations, no detectable mRNA and familial genetic analysis of the Wiskott-Aldrich syndrome protein gene in six Japanese patients with Wiskott-Aldrich syndrome. 61 6
10653325 2000
31
Unique and recurrent WAS gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia. 61 56
10575547 1999
32
Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and clinical phenotypes. 61 56
10447259 1999
33
Prenatal molecular diagnosis of Wiskott-Aldrich syndrome by direct mutation analysis. 61 56
10073904 1999
34
Flow cytometric analysis of Wiskott-Aldrich syndrome (WAS) protein in lymphocytes from WAS patients and their familial carriers. 61 56
10215346 1999
35
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. 61 6
9657775 1998
36
X-linked Wiskott-Aldrich syndrome in a girl. 61 56
9445409 1998
37
Direct interaction of the Wiskott-Aldrich syndrome protein with the GTPase Cdc42. 61 56
8643625 1996
38
Scanning of the Wiskott-Aldrich syndrome (WAS) gene: identification of 18 novel alterations including a possible mutation hotspot at Arg86 resulting in thrombocytopenia, a mild WAS phenotype. 61 6
8595430 1995
39
Identification of mutations in the Wiskott-Aldrich syndrome gene and characterization of a polymorphic dinucleotide repeat at DXS6940, adjacent to the disease gene. 61 56
7753869 1995
40
Nonrandom inactivation of the X chromosome in early lineage hematopoietic cells in carriers of Wiskott-Aldrich syndrome. 61 56
7537115 1995
41
X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene. 61 56
7795648 1995
42
A multiinstitutional survey of the Wiskott-Aldrich syndrome. 61 56
7996359 1994
43
Isolation of a novel gene mutated in Wiskott-Aldrich syndrome. 61 56
8069912 1994
44
X linked recessive thrombocytopenia. 61 56
8301658 1993
45
Application of molecular analysis to genetic counseling in the Wiskott-Aldrich syndrome (WAS). 61 56
8397823 1993
46
Evidence for defective transmembrane signaling in B cells from patients with Wiskott-Aldrich syndrome. 61 56
1401074 1992
47
Coincident Kaposi sarcoma and T-cell lymphoma in a patient with the Wiskott-Aldrich syndrome. 61 56
1316718 1992
48
The Wiskott-Aldrich syndrome: refinement of the localization on Xp and identification of another closely linked marker locus, OATL1. 61 56
1346773 1992
49
Marrow transplantation from human leukocyte antigen-identical or haploidentical donors for correction of Wiskott-Aldrich syndrome. 61 56
1960605 1991
50
Analysis of X-chromosome inactivation and presumptive expression of the Wiskott-Aldrich syndrome (WAS) gene in hematopoietic cell lineages of a thrombocytopenic carrier female of WAS. 61 56
1684569 1991

Variations for Wiskott-Aldrich Syndrome

ClinVar genetic disease variations for Wiskott-Aldrich Syndrome:

6 (show top 50) (show all 61) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 WAS WAS, 1-BP DEL, 211Tdeletion Pathogenic 11113
2 WAS NM_000377.2(WAS):c.257G>T (p.Arg86Leu)SNV Pathogenic 11114 rs132630268 X:48542796-48542796 X:48684407-48684407
3 WAS NM_000377.2(WAS):c.257G>A (p.Arg86His)SNV Pathogenic 11115 rs132630268 X:48542796-48542796 X:48684407-48684407
4 WAS NM_000377.2(WAS):c.100C>T (p.Arg34Ter)SNV Pathogenic 11119 rs132630271 X:48542342-48542342 X:48683953-48683953
5 WAS NM_000377.2(WAS):c.1A>T (p.Met1Leu)SNV Pathogenic 11120 rs587776742 X:48542243-48542243 X:48683854-48683854
6 WAS NM_000377.2(WAS):c.395_400dupshort repeat Pathogenic 11121 rs587776743 X:48544149-48544150 X:48685760-48685761
7 WAS NM_000377.2(WAS):c.1097del (p.Gly366fs)deletion Pathogenic 11124 rs587776744 X:48547210-48547210 X:48688821-48688821
8 WAS WAS, 15,800-BP DELdeletion Pathogenic 11128
9 WAS WAS, IVS6DS, G-A, +5SNV Pathogenic 11129
10 WAS NM_000377.2:c.560-1G>ASNV Pathogenic 11130 X:48545169-48545169 X:48686780-48686780
11 WAS NM_000377.2:c.559+2T>GSNV Pathogenic 11131 X:48544525-48544525 X:48686136-48686136
12 WAS NM_000377.2(WAS):c.11del (p.Gly4fs)deletion Pathogenic 11132 rs587776745 X:48542249-48542249 X:48683860-48683860
13 WAS NM_000377.2:c.73_74delACdeletion Pathogenic 11133 X:48542314-48542315 X:48683925-48683926
14 WAS WAS, 1-BP DEL, 758Adeletion Pathogenic 11134
15 WAS WAS, 1-BP DEL, CODON 241, Cdeletion Pathogenic 11135
16 WAS NM_000377.2(WAS):c.37C>T (p.Arg13Ter)SNV Pathogenic 36911 rs193922415 X:48542279-48542279 X:48683890-48683890
17 WAS NM_000377.2(WAS):c.223G>A (p.Val75Met)SNV Pathogenic 265289 rs782290433 X:48542762-48542762 X:48684373-48684373
18 WAS NM_000377.2(WAS):c.777+1G>ASNV Pathogenic 372546 rs1057517845 X:48546486-48546486 X:48688097-48688097
19 WAS NM_000377.2(WAS):c.1453G>A (p.Asp485Asn)SNV Pathogenic 418541 rs1064793293 X:48547823-48547823 X:48689434-48689434
20 WAS NM_000377.2(WAS):c.961C>T (p.Arg321Ter)SNV Pathogenic 449515 rs1557007123 X:48547078-48547078 X:48688689-48688689
21 WAS NM_000377.2(WAS):c.1271dup (p.Leu425fs)duplication Pathogenic 495844 rs1557007312 X:48547383-48547384 X:48688994-48688995
22 WAS NM_000377.2(WAS):c.271C>T (p.Gln91Ter)SNV Pathogenic 528221 rs1557006354 X:48542810-48542810 X:48684421-48684421
23 WAS NM_000377.2(WAS):c.1001del (p.Gly334fs)deletion Pathogenic 574368 rs1569494025 X:48547113-48547113 X:48688724-48688724
24 WAS NM_000377.2(WAS):c.360+1G>CSNV Pathogenic 548704 rs1057520700 X:48544023-48544023 X:48685634-48685634
25 WAS NM_000377.2(WAS):c.734+2T>ASNV Pathogenic 577637 rs1569493877 X:48545346-48545346 X:48686957-48686957
26 WAS NC_000023.11:g.48681722_48688043invinversion Pathogenic 638576 X:48681722-48688043
27 WAS NM_000377.2(WAS):c.735-2A>GSNV Pathogenic 638575 X:48546441-48546441 X:48688052-48688052
28 WAS NM_000377.2(WAS):c.1315_1453+204deldeletion Pathogenic 638573 X:48547432-48548027 X:48689043-48689638
29 WAS NM_000377.2(WAS):c.1337_1338+9deldeletion Pathogenic 638574 X:48547451-48547461 X:48689062-48689072
30 WAS NM_000377.2(WAS):c.470_471del (p.Arg157fs)deletion Pathogenic 643344 X:48544340-48544341 X:48685951-48685952
31 WAS NM_000377.2(WAS):c.631C>T (p.Arg211Ter)SNV Pathogenic 647830 X:48545241-48545241 X:48686852-48686852
32 WAS NM_000377.2(WAS):c.660_664del (p.Ser221_Pro222insTer)deletion Pathogenic 641614 X:48545268-48545272 X:48686879-48686883
33 WAS NM_000377.2(WAS):c.355G>T (p.Gly119Ter)SNV Pathogenic 660964 X:48544017-48544017 X:48685628-48685628
34 WAS NM_000377.2(WAS):c.803delinsTT (p.Arg268fs)indel Pathogenic 652576 X:48546714-48546714 X:48688325-48688325
35 WAS NM_000377.3(WAS):c.858del (p.Ser287fs)deletion Pathogenic 656534 X:48546768-48546768 X:48688379-48688379
36 WAS NM_000377.2(WAS):c.-37_132+35deldeletion Pathogenic 663734 X:48542204-48542407 X:48683815-48684018
37 WAS NM_000377.2(WAS):c.91G>A (p.Glu31Lys)SNV Pathogenic/Likely pathogenic 528222 rs1557006239 X:48542333-48542333 X:48683944-48683944
38 WAS NM_000377.2(WAS):c.852del (p.Glu285fs)deletion Likely pathogenic 495849 rs1557007035 X:48546762-48546762 X:48688373-48688373
39 WAS NM_000377.2(WAS):c.290G>A (p.Trp97Ter)SNV Likely pathogenic 495846 rs1557006474 X:48543952-48543952 X:48685563-48685563
40 WAS NM_000377.2(WAS):c.553C>T (p.Gln185Ter)SNV Likely pathogenic 495848 rs1557006672 X:48544517-48544517 X:48686128-48686128
41 WAS NM_000377.2(WAS):c.763dup (p.Gln255fs)duplication Likely pathogenic 36913 rs193922416 X:48546466-48546467 X:48688077-48688078
42 WAS NM_000377.2(WAS):c.310C>T (p.Gln104Ter)SNV Likely pathogenic 36910 rs193922414 X:48543972-48543972 X:48685583-48685583
43 WAS NM_000377.2(WAS):c.257G>C (p.Arg86Pro)SNV Likely pathogenic 633021 rs132630268 X:48542796-48542796 X:48684407-48684407
44 WAS NM_000377.2(WAS):c.1197_1205delACCGCCACCshort repeat Conflicting interpretations of pathogenicity 36908 rs193922412 X:48547300-48547308 X:48688911-48688919
45 WAS NM_000377.2(WAS):c.1208C>T (p.Pro403Leu)SNV Uncertain significance 444802 rs782666797 X:48547325-48547325 X:48688936-48688936
46 WAS NM_000377.2(WAS):c.985C>G (p.Pro329Ala)SNV Uncertain significance 528223 rs1557007136 X:48547102-48547102 X:48688713-48688713
47 WAS NM_000377.2(WAS):c.344A>G (p.His115Arg)SNV Uncertain significance 578369 rs1569493774 X:48544006-48544006 X:48685617-48685617
48 WAS NM_000377.2(WAS):c.689A>G (p.Lys230Arg)SNV Uncertain significance 574035 rs1569493872 X:48545299-48545299 X:48686910-48686910
49 WAS NM_000377.2(WAS):c.482C>A (p.Pro161Gln)SNV Uncertain significance 567234 rs1569493803 X:48544353-48544353 X:48685964-48685964
50 WAS NM_000377.2(WAS):c.1060_1062delCCAshort repeat Uncertain significance 577977 rs1569494034 X:48547174-48547176 X:48688785-48688787

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

73 (show all 19)
# Symbol AA change Variation ID SNP ID
1 WAS p.Glu31Lys VAR_005825 rs155700623
2 WAS p.Ser82Pro VAR_005829 rs132630272
3 WAS p.Arg86His VAR_005830 rs132630268
4 WAS p.Arg86Leu VAR_005831 rs132630268
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 rs132630273
13 WAS p.Cys73Arg VAR_008107
14 WAS p.Phe84Leu VAR_008109
15 WAS p.Gly89Asp VAR_008110 rs139857045
16 WAS p.Gln52His VAR_012710
17 WAS p.Gly70Trp VAR_012711
18 WAS p.Pro58Leu VAR_022806
19 WAS p.Ala134Thr VAR_022807

Expression for Wiskott-Aldrich Syndrome

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

Pathways for Wiskott-Aldrich Syndrome

Pathways related to Wiskott-Aldrich Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 Endocytosis hsa04144
2 Regulation of actin cytoskeleton hsa04810

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

(show all 50)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.17 WIPF1 WASL WASF3 WASF2 WASF1 WAS
2
Show member pathways
14.06 WIPF1 WASL WASF3 WASF2 WASF1 WAS
3
Show member pathways
13.38 WASF1 WAS SRC CDC42 BTK ACTR3
4
Show member pathways
13.35 WASL WASF1 WAS SRC RHOD CDC42
5
Show member pathways
13.34 WASL TRIP10 SRC SNX9 CTTN ACTR3
6
Show member pathways
13 WASF1 WAS SRC CDC42 ACTR3 ACTR2
7
Show member pathways
12.99 WIPF1 WASL WASF1 WAS SRC RHOD
8
Show member pathways
12.98 WAS SRC RHOD CTTN CDC42 ACTR3
9
Show member pathways
12.98 WASL WAS SRC NCK1 CDC42 BTK
10 12.69 WASL WASF2 WASF1 WAS SRC CDC42
11
Show member pathways
12.66 WASL SRC NCK1 CDC42 ACTR3 ACTR2
12
Show member pathways
12.65 WASF1 WAS SRC CDC42 ACTR3 ACTR2
13
Show member pathways
12.54 WIPF1 WAS CDC42 ACTR3 ACTR2
14 12.51 WASL WASF3 WASF2 WAS NCK1 CTTN
15
Show member pathways
12.49 WASL WAS SRC NCK1 CTTN CDC42
16
Show member pathways
12.48 WIPF1 WASL SRC NCK1 CDC42 ACTR3
17 12.46 WIPF1 WASL WASHC1 SRC CDC42
18 12.46 WASL WASF2 WASF1 SRC CTTN CDC42
19
Show member pathways
12.46 WASL TRIP10 SNX9 CTTN ACTR3 ACTR2
20
Show member pathways
12.44 WASL RHOD CDC42 ACTR3 ACTR2
21
Show member pathways
12.4 WASL WASF2 WASF1 WAS SRC RHOD
22
Show member pathways
12.39 WASF3 WASF2 WASF1 WAS
23
Show member pathways
12.39 WIPF1 WASL WASF3 WASF2 WASF1 WAS
24
Show member pathways
12.37 WAS CDC42 ACTR3 ACTR2
25 12.34 WIPF1 WASL WASF3 WASF2 WASF1 NCK1
26
Show member pathways
12.33 WAS SRC ACTR3 ACTR2
27 12.27 WAS SRC CTTN CDC42 ACTR3 ACTR2
28 12.24 SRC RHOD NCK1 CDC42
29 12.09 WASL RHOD NCK1 CDC42 ACTR3 ACTR2
30
Show member pathways
12.07 WIPF1 WASL WASF3 WASF2 WASF1 WAS
31 12.02 WASL WASF2 SRC CDC42 ACTR3 ACTR2
32 11.95 WASF3 WASF2 WASF1 WAS CDC42
33 11.93 SRC RHOD CDC42
34
Show member pathways
11.91 WAS NCK1 CDC42
35 11.86 WASL WASF2 WASF1 CDC42
36 11.85 WASL WASF2 WASF1 SRC CTTN CDC42
37
Show member pathways
11.84 SRC NCK1 CDC42
38
Show member pathways
11.84 WASL SRC NCK1 CDC42
39 11.84 WIPF1 WASL WASF2 WAS SRC CDC42
40 11.78 SRC NCK1 ACTR3 ACTR2
41 11.65 WASL WASF3 WASF2 WASF1 WAS SRC
42 11.61 SRC CTTN CDC42
43 11.61 WASL CDC42 ACTR3 ACTR2
44 11.53 WASF1 CDC42 ACTR3 ACTR2
45 11.46 WASL WAS CDC42
46 11.41 WASF2 SRC CTTN CDC42
47 11.4 WASL SRC CTTN CDC42 ACTR3 ACTR2
48 11.32 WASF1 WAS CDC42 ACTR3 ACTR2
49 11.08 WIPF1 WASL WASF3 WASF1 RHOD CDC42
50 10.94 SRC CTTN

GO Terms for Wiskott-Aldrich Syndrome

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.37 WASL WAS TRIP10 SRC SPN SNX9
2 cytoplasm GO:0005737 10.36 WIPF1 WASL WASHC1 WASF3 WASF2 WASF1
3 cytosol GO:0005829 10.25 WIPF1 WASL WASHC1 WASF2 WAS TRIP10
4 extracellular exosome GO:0070062 10.2 WASL WASF3 WASF2 WAS TRIP10 SRC
5 cell projection GO:0042995 10.07 WIPF1 WASF2 TRIP10 SPN SNX9 PSTPIP1
6 focal adhesion GO:0005925 9.95 WASF1 CTTN CDC42 ACTR3 ACTR2
7 cell-cell junction GO:0005911 9.89 WASF2 WAS NCK1 CDC42 ACTR3
8 cell cortex GO:0005938 9.88 TRIP10 RHOD CTTN CDC42 ACTR2
9 actin filament GO:0005884 9.83 WIPF1 WASL WAS SRC CTTN
10 ruffle GO:0001726 9.81 WIPF1 WASF2 SNX9 CTTN
11 actin cytoskeleton GO:0015629 9.8 WIPF1 WASL WASF2 WASF1 WAS ACTR3
12 site of double-strand break GO:0035861 9.71 WAS ACTR3 ACTR2
13 lamellipodium GO:0030027 9.7 WASL WASF3 WASF2 PSTPIP1 CTTN ACTR3
14 Arp2/3 protein complex GO:0005885 9.58 ACTR3 ACTR2
15 uropod GO:0001931 9.58 SPN PSTPIP1
16 invadopodium GO:0071437 9.57 WASHC1 ACTR2
17 SCAR complex GO:0031209 9.56 WASF2 WASF1
18 actin cap GO:0030478 9.52 WASL ACTR2
19 cytoskeleton GO:0005856 9.47 WIPF1 WASL WASHC1 WASF3 WASF2 WASF1
20 actin cortical patch GO:0030479 9.35 WIPF1 WASL WAS ACTR3 ACTR2

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

(show all 37)
# Name GO ID Score Top Affiliating Genes
1 protein-containing complex assembly GO:0065003 9.93 WIPF1 WASL WASF3 WASF1 WAS
2 actin cytoskeleton organization GO:0030036 9.91 WASL WASF3 WASF2 WASF1 TRIP10 CDC42
3 cellular response to interferon-gamma GO:0071346 9.88 WAS CDC42 ACTR3 ACTR2
4 membrane organization GO:0061024 9.88 WASL TRIP10 SNX9 CTTN ACTR3 ACTR2
5 vascular endothelial growth factor receptor signaling pathway GO:0048010 9.86 WASF2 SRC NCK1 CDC42
6 endosomal transport GO:0016197 9.83 WASHC1 WAS SNX9
7 establishment or maintenance of cell polarity GO:0007163 9.83 SPN CDC42 ACTR3 ACTR2
8 Rho protein signal transduction GO:0007266 9.82 WAS RHOD CDC42
9 lamellipodium assembly GO:0030032 9.8 WASF3 WASF2 RHOD NCK1
10 ephrin receptor signaling pathway GO:0048013 9.8 WASL SRC NCK1 CDC42 ACTR3 ACTR2
11 positive regulation of actin filament polymerization GO:0030838 9.79 SNX9 NCK1 CTTN
12 Arp2/3 complex-mediated actin nucleation GO:0034314 9.75 WASHC1 ACTR3 ACTR2
13 actin polymerization or depolymerization GO:0008154 9.74 WIPF1 WASL WAS
14 actin filament-based movement GO:0030048 9.73 WIPF1 WASL WASF2 WAS
15 positive regulation of Arp2/3 complex-mediated actin nucleation GO:2000601 9.72 WASL WASF1 WAS
16 actin filament organization GO:0007015 9.7 WASL WAS RHOD NCK1 CDC42 ACTR3
17 actin cortical patch localization GO:0051666 9.69 WIPF1 WASL WAS
18 positive regulation of lamellipodium assembly GO:0010592 9.67 WASF2 CDC42
19 dendritic spine morphogenesis GO:0060997 9.67 WASL CDC42
20 postsynaptic actin cytoskeleton organization GO:0098974 9.67 WASF2 CTTN
21 regulation of stress fiber assembly GO:0051492 9.66 WAS CDC42
22 positive regulation of pseudopodium assembly GO:0031274 9.66 WASHC1 CDC42
23 positive regulation of double-strand break repair via homologous recombination GO:1905168 9.65 WAS ACTR2
24 actin cortical patch assembly GO:0000147 9.65 WIPF1 WASL WAS
25 actin filament polymerization GO:0030041 9.65 WASL WASF3 WASF1 WAS CTTN
26 regulation of lamellipodium assembly GO:0010591 9.64 WAS CDC42
27 substrate-dependent cell migration, cell extension GO:0006930 9.64 NCK1 CTTN
28 signal complex assembly GO:0007172 9.63 SRC NCK1
29 regulation of double-strand break repair via nonhomologous end joining GO:2001032 9.63 WAS ACTR2
30 spindle localization GO:0051653 9.63 WASL ACTR3 ACTR2
31 Cdc42 protein signal transduction GO:0032488 9.62 WAS CDC42
32 asymmetric cell division GO:0008356 9.61 ACTR3 ACTR2
33 response to other organism GO:0051707 9.61 WIPF1 NCK1
34 endocytosis GO:0006897 9.61 WIPF1 WASL WASF2 WAS TRIP10 SNX9
35 meiotic chromosome movement towards spindle pole GO:0016344 9.6 ACTR3 ACTR2
36 meiotic cytokinesis GO:0033206 9.59 ACTR3 ACTR2
37 Fc-gamma receptor signaling pathway involved in phagocytosis GO:0038096 9.32 WIPF1 WASL WASF2 WAS SRC NCKIPSD

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

# Name GO ID Score Top Affiliating Genes
1 cadherin binding GO:0045296 9.65 WASF2 SRC SNX9 NCK1 CTTN
2 cytoskeletal protein binding GO:0008092 9.54 PSTPIP1 NCKIPSD ACTR2
3 SH3 domain binding GO:0017124 9.46 WIPF1 WASF2 WAS NCKIPSD
4 actin filament binding GO:0051015 9.43 WIPF1 WASL WAS CTTN ACTR3 ACTR2
5 GTPase regulator activity GO:0030695 9.4 WASL WAS
6 profilin binding GO:0005522 9.32 WIPF1 CTTN
7 actin binding GO:0003779 9.28 WIPF1 WASL WASHC1 WASF3 WASF2 WASF1

Sources for Wiskott-Aldrich Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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