WAS
MCID: WSK001
MIFTS: 73

Wiskott-Aldrich Syndrome (WAS) malady

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

Aliases & Classifications for Wiskott-Aldrich Syndrome

Aliases & Descriptions for Wiskott-Aldrich Syndrome:

Name: Wiskott-Aldrich Syndrome 54 38 12 24 25 56 66 13 13 52 42 14 69
Eczema-Thrombocytopenia-Immunodeficiency Syndrome 25 56 66
Immunodeficiency 2 50 25 66
Was 50 56 66
Wiskott Aldrich Syndrome 50 29
Wiskott Syndrome 12 25
Aldrich Syndrome 50 66
Imd2 25 66
Eczema Thrombocytopenia Immunodeficiency Syndrome 50
Wiskott-Aldrich Syndrome 1 66
Imd 2 50
Was1 66

Characteristics:

Orphanet epidemiological data:

56
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;

HPO:

32
wiskott-aldrich syndrome:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 54 301000
Disease Ontology 12 DOID:9169
ICD10 33 D82.0
ICD9CM 35 279.12
MeSH 42 D014923
NCIt 47 C3448
SNOMED-CT 64 36070007
Orphanet 56 ORPHA906
MESH via Orphanet 43 D014923
ICD10 via Orphanet 34 D82.0
UMLS via Orphanet 70 C0043194
MedGen 40 C0043194
UMLS 69 C0043194

Summaries for Wiskott-Aldrich Syndrome

NIH Rare Diseases : 50 wiskott aldrich syndrome (was) is a condition characterized by immunodeficiency and reduced ability to form blood clots. it primarily affects males. signs and symptoms include easy bruising or bleeding due to a decrease in the number and size of platelets; susceptibility to infections, immune disorders and inflammatory disorders; and an increased risk for some cancers (such as lymphoma). eczema is common in affected people. was is caused by mutations in the was gene and is inherited in an x-linked manner. treatment may depend on severity and symptoms in each person, but stem cell transplantation is the only known cure. last updated: 4/10/2015

MalaCards based summary : Wiskott-Aldrich Syndrome, also known as eczema-thrombocytopenia-immunodeficiency syndrome, is related to wiskott-aldrich syndrome 2 and thrombocytopenia, x-linked, and has symptoms including fatigue, dyspnea and fever. An important gene associated with Wiskott-Aldrich Syndrome is WAS (Wiskott-Aldrich Syndrome), and among its related pathways/superpathways are Signaling by GPCR and Innate Immune System. The drugs Everolimus and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include t cells, b cells and bone, and related phenotypes are Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance and Decreased Salmonella enterica Typhimurium ruffling

UniProtKB/Swiss-Prot : 66 Wiskott-Aldrich syndrome: An X-linked recessive immunodeficiency characterized by eczema, thrombocytopenia, recurrent infections, and bloody diarrhea. Death usually occurs before age 10.

Genetics Home Reference : 25 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 : 54 Wiskott-Aldrich syndrome is an X-linked recessive immunodeficiency characterized by thrombocytopenia, eczema, and... (301000) more...

Wikipedia : 71 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 2

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

(show top 50) (show all 85)
id Related Disease Score Top Affiliating Genes
1 wiskott-aldrich syndrome 2 12.5
2 thrombocytopenia, x-linked 11.3
3 storage pool platelet disease 11.2
4 tnfrsf13b-related common variable immune deficiency 10.8
5 thrombocytopenia 10.7
6 lymphoma 10.5
7 aneurysm 10.4
8 neuronitis 10.4
9 hematopoietic stem cell transplantation 10.4
10 herpes simplex 10.3
11 aortic aneurysm 10.2
12 colitis 10.2
13 purpura 10.2
14 y-linked disease 10.2 WAS WASL WIPF1
15 thoracic aortic aneurysm 10.1
16 dermatitis 10.1
17 glomerulonephritis 10.1
18 vasculitis 10.1
19 split hand split foot malformation autosomal recessive 10.1 WAS WASF1 WASL
20 hodgkin lymphoma 10.1
21 lymphomatoid granulomatosis 10.1
22 neutropenia 10.1
23 sclerosing cholangitis 10.1
24 cholangitis 10.1
25 primary immunodeficiency disease 10.1
26 ovarian cancer 10.1
27 progressive multifocal leukoencephalopathy 10.1
28 b-cell lymphomas 10.1
29 cytomegalovirus infection 10.1
30 thrombotic thrombocytopenic purpura 10.1
31 atopic dermatitis 10.1
32 molluscum contagiosum 9.9
33 renal cell carcinoma 9.9
34 juvenile xanthogranuloma 9.9
35 burkitt lymphoma 9.9
36 melanoma 9.9
37 seminoma 9.9
38 myotonic dystrophy 9.9
39 keratitis 9.9
40 ulcerative colitis 9.9
41 hyperostosis 9.9
42 pneumonia 9.9
43 clear cell renal cell carcinoma 9.9
44 kawasaki disease 9.9
45 lymphoplasmacytic lymphoma 9.9
46 pharyngitis 9.9
47 congenital cytomegalovirus 9.9
48 lymphopenia 9.9
49 cytomegalic inclusion disease 9.9
50 agammaglobulinemia 9.9

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



Diseases related to Wiskott-Aldrich Syndrome

Symptoms & Phenotypes for Wiskott-Aldrich Syndrome

Symptoms by clinical synopsis from OMIM:

301000

Clinical features from OMIM:

301000

Human phenotypes related to Wiskott-Aldrich Syndrome:

56 32 (show top 50) (show all 73)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fatigue 56 32 Frequent (79-30%) HP:0012378
2 dyspnea 56 32 Frequent (79-30%) HP:0002094
3 fever 56 32 Very frequent (99-80%) HP:0001945
4 chest pain 56 32 Occasional (29-5%) HP:0100749
5 sudden cardiac death 56 32 Occasional (29-5%) HP:0001645
6 chronic otitis media 56 32 Very frequent (99-80%) HP:0000389
7 arthritis 56 32 Occasional (29-5%) HP:0001369
8 recurrent respiratory infections 56 32 Very frequent (99-80%) HP:0002205
9 nephropathy 56 32 Occasional (29-5%) HP:0000112
10 immunodeficiency 56 32 Very frequent (99-80%) HP:0002721
11 hemolytic anemia 56 32 Frequent (79-30%) HP:0001878
12 peripheral neuropathy 56 32 Occasional (29-5%) HP:0009830
13 sinusitis 56 32 Very frequent (99-80%) HP:0000246
14 autoimmunity 56 32 Frequent (79-30%) HP:0002960
15 inflammation of the large intestine 56 32 Frequent (79-30%) HP:0002037
16 thrombocytopenia 56 32 Very frequent (99-80%) HP:0001873
17 microcytic anemia 56 32 Frequent (79-30%) HP:0001935
18 skin ulcer 56 32 Occasional (29-5%) HP:0200042
19 spontaneous hematomas 56 32 Very frequent (99-80%) HP:0007420
20 glomerulopathy 56 32 Occasional (29-5%) HP:0100820
21 keratitis 56 32 Occasional (29-5%) HP:0000491
22 blepharitis 56 32 Occasional (29-5%) HP:0000498
23 chronic obstructive pulmonary disease 56 32 Very frequent (99-80%) HP:0006510
24 lymphopenia 56 32 Very frequent (99-80%) HP:0001888
25 hypoplasia of the thymus 56 32 Occasional (29-5%) HP:0000778
26 purpura 56 32 Frequent (79-30%) HP:0000979
27 specific learning disability 56 32 Frequent (79-30%) HP:0001328
28 otitis media 56 32 Very frequent (99-80%) HP:0000388
29 epistaxis 56 32 Occasional (29-5%) HP:0000421
30 conjunctivitis 56 32 Occasional (29-5%) HP:0000509
31 meningitis 56 32 Occasional (29-5%) HP:0001287
32 neutropenia 56 32 Occasional (29-5%) HP:0001875
33 chronic diarrhea 56 32 Very frequent (99-80%) HP:0002028
34 sepsis 56 32 Occasional (29-5%) HP:0100806
35 abnormality of the menstrual cycle 56 32 Occasional (29-5%) HP:0000140
36 bruising susceptibility 56 32 Very frequent (99-80%) HP:0000978
37 gingival bleeding 56 32 Occasional (29-5%) HP:0000225
38 eczema 56 32 Occasional (29-5%) HP:0000964
39 petechiae 56 32 Frequent (79-30%) HP:0000967
40 urticaria 56 32 Occasional (29-5%) HP:0001025
41 abnormality of eosinophils 56 32 Frequent (79-30%) HP:0001879
42 intracranial hemorrhage 56 32 Occasional (29-5%) HP:0002170
43 hematemesis 56 32 Frequent (79-30%) HP:0002248
44 acute leukemia 56 32 Occasional (29-5%) HP:0002488
45 hematochezia 56 32 Frequent (79-30%) HP:0002573
46 vasculitis 56 32 Occasional (29-5%) HP:0002633
47 lymphoma 56 32 Occasional (29-5%) HP:0002665
48 prolonged bleeding time 56 32 Very frequent (99-80%) HP:0003010
49 chronic leukemia 56 32 Occasional (29-5%) HP:0005558
50 recurrent intrapulmonary hemorrhage 56 32 Occasional (29-5%) HP:0006535

UMLS symptoms related to Wiskott-Aldrich Syndrome:


diarrhea

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance GR00210-A 9.63 ACTR3 BTK CDC42 FYN NCK1 WASF3
2 Decreased Salmonella enterica Typhimurium ruffling GR00133-A-5 9.13 ACTR2 ACTR3 CDC42
3 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 266)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Everolimus Approved Phase 4,Phase 2 159351-69-6 6442177
2
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 2 22916-47-8 4189
3
Mycophenolate mofetil Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 128794-94-5 5281078
4
Mycophenolic acid Approved Phase 4,Phase 3,Phase 2,Phase 1 24280-93-1 446541
5
Sirolimus Approved, Investigational Phase 4,Phase 2 53123-88-9 5284616 6436030 46835353
6
Benzocaine Approved Phase 4,Phase 3 1994-09-7, 94-09-7 2337
7
Zinc Approved Phase 4 7440-66-6 32051 23994
8
Ranibizumab Approved Phase 4 347396-82-1 459903
9
Diltiazem Approved Phase 4,Phase 3 42399-41-7 39186
10
Pitavastatin Approved Phase 4 147511-69-1, 147526-32-7 6366718 5282452
11
Dexmedetomidine Approved, Vet_approved Phase 4 76631-46-4, 113775-47-6 68602 5311068 56032
12
Amlodipine Approved Phase 4 88150-42-9 2162
13
Benazepril Approved, Investigational Phase 4 86541-75-5 5362124
14
Hydrochlorothiazide Approved, Vet_approved Phase 4 58-93-5 3639
15
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
16
Calcium acetate Approved Phase 4 62-54-4
17
Sevelamer Approved Phase 4 52757-95-6, 152751-57-0 3085017
18
Dopamine Approved Phase 4,Phase 3 51-61-6, 62-31-7 681
19
Fluoxetine Approved, Vet_approved Phase 4 54910-89-3 3386
20
Norepinephrine Approved Phase 4 51-41-2 439260
21
Morphine Approved, Investigational Phase 4 57-27-2 5288826
22
Primaquine Approved Phase 4 90-34-6 4908
23
Glimepiride Approved Phase 4 93479-97-1 3476
24
Metformin Approved Phase 4 657-24-9 14219 4091
25
Heparin Approved, Investigational Phase 4 9005-49-6 772 46507594
26
Mannitol Approved, Investigational Phase 4 69-65-8 453 6251
27
Glucosamine Approved, Nutraceutical Phase 4 3416-24-8 439213
28
Niacin Approved, Investigational, Nutraceutical Phase 4 59-67-6 938
29
Nicotinamide Approved, Nutraceutical Phase 4 98-92-0 936
30 tannic acid Approved, Nutraceutical Phase 4,Phase 3
31
Calcitriol Approved, Nutraceutical Phase 4 32222-06-3 134070 5280453
32
Ergocalciferol Approved, Nutraceutical Phase 4,Phase 3 50-14-6 5280793
33 Antibodies Phase 4,Phase 3,Phase 1,Phase 2
34 gamma-Globulins Phase 4,Phase 3
35 Immunoglobulins Phase 4,Phase 3,Phase 1,Phase 2
36 Immunoglobulins, Intravenous Phase 4,Phase 3
37 Rho(D) Immune Globulin Phase 4,Phase 3
38 Anti-Bacterial Agents Phase 4,Phase 3,Phase 2
39 Antibiotics, Antitubercular Phase 4,Phase 3,Phase 2
40 Antifungal Agents Phase 4,Phase 2
41 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
42 Calcineurin Inhibitors Phase 4,Phase 2
43 Immunosuppressive Agents Phase 4,Phase 3,Phase 1,Phase 2
44 Nicotinic Acids Phase 4
45 Angiogenesis Inhibitors Phase 4,Phase 2
46 Angiogenesis Modulating Agents Phase 4,Phase 2
47 Pharmaceutical Solutions Phase 4,Phase 3
48 Anticholesteremic Agents Phase 4
49 Antihypertensive Agents Phase 4,Phase 3
50 Antimetabolites Phase 4,Phase 3,Phase 1,Phase 2

Interventional clinical trials:

(show top 50) (show all 82)
id Name Status NCT ID Phase
1 Treatment Protocol of Child SAA With the Injection of Mesenchymal Stem Cells(Umbilical Cord Derived) Unknown status NCT02218437 Phase 4
2 Safety and Efficacy Study of Flebogamma 5% DIF IGIV in Pediatric Subjects Completed NCT00634569 Phase 4
3 A Study to Find Out How Safe and Effective Gammaplex® is in Young People With Primary Immunodeficiency Completed NCT01289847 Phase 4
4 Kidney Spare the Nephron (STN) Study - A Study of CellCept (Mycophenolate Mofetil) and Rapamune (Sirolimus) in Kidney Transplant Recipients Completed NCT00121810 Phase 4
5 Effects of Glucosamine and Chondroitin Supplementation in Women With Knee Osteoarthritis Participating in an Exercise and Weight Loss Program Completed NCT01271218 Phase 4
6 Comparison of Safety, Effectiveness and Quality of Life Outcomes Between Labeled Versus "Treat and Extend" Regimen in Turkish Patients With Choroidal Neovascularisation Due to Age-related Macular Degeneration (AMD) Completed NCT01148511 Phase 4
7 Drug-Drug Interaction of Cardizem LA (Diltiazem Hydrochloride) on Pitavastatin Completed NCT01422382 Phase 4
8 The Optimal Dose of Dexmedetomidine Sedation for Postpartum Parturients and Nonpregnant Women Completed NCT02111421 Phase 4
9 ADDM Study - Amtrel and Co-Diovan in Type 2 Diabetes Mellitus Hypertension Patients With Microalbuminuria Completed NCT01375322 Phase 4
10 Study on Bone Marrow Morphology in Adults Receiving Romiplostim for Treatment of Thrombocytopenia Associated With Immune Thrombocytopenia Purpura (ITP) Completed NCT00907478 Phase 4
11 The Influence of Age on Dexmedetomidine Pharmacodynamic Completed NCT02099253 Phase 4
12 Sevelamer, FGF-23 and Endothelial Dysfunction in Chronic Kidney Disease (CKD) Completed NCT01135615 Phase 4
13 Duloxetine Treatment in Elderly With Dysthymia Completed NCT01852383 Phase 4
14 Impact of Dihydroartemisinin-piperaquine Plus Primaquine on Malaria Transmission in Lampung Province, Sumatra Completed NCT01389557 Phase 4
15 Paricalcitol Effect on Anemia in CKD Completed NCT01768351 Phase 4
16 Efficacy and Safety of Sitagliptin/Metformin Fixed-Dose Combination (FDC) Compared to Glimepiride in Participants With Type 2 Diabetes Mellitus (MK-0431A-202) Completed NCT00993187 Phase 4
17 Dihydroartemisinin-piperaquine and Primaquine for Uncomplicated Plasmodium Falciparum Cases Completed NCT01392014 Phase 4
18 On-pump Beating Coronary Artery Bypass Grafting by Ventricular Assist Recruiting NCT02731794 Phase 4
19 The ED50 of DEX for Providing Sedation in Different Female Age Group Not yet recruiting NCT02773017 Phase 4
20 Efficacy, Safety and Pharmacokinetics of Gammaplex in Primary Immunodeficiency Diseases. Completed NCT00278954 Phase 3
21 An Extension to Study MA21573, Evaluating Tocilizumab in Patients With Active Rheumatoid Arthritis and an Inadequate Response to Current Non-Biological DMARDs and/or Anti-tumor Necrosis Factor (TNF) Therapy Completed NCT00883753 Phase 3
22 Rapid Infusion of Immune Globulin Intravenous (Human) In Primary Immunodeficiency Patients Completed NCT00220766 Phase 3
23 Topical Green Tea Ointment in Treatment of Superficial Skin Cancer Completed NCT02029352 Phase 2, Phase 3
24 Clevidipine in the Treatment of Blood Pressure in Patients With Acute Heart Failure (PRONTO) Completed NCT00803634 Phase 3
25 Safety and Efficacy of Paricalcitol Capsules in Decreasing Serum Parathyroid Hormone Levels in Children Aged 10-16 With Chronic Kidney Disease (CKD) Completed NCT01020487 Phase 3
26 Moxifloxacin in Pediatric Subjects With Complicated Intra-abdominal Infection Completed NCT01069900 Phase 3
27 A Study of Mycophenolate Mofetil (CellCept) in Management of Patients With Lupus Nephritis. Completed NCT00377637 Phase 3
28 Brexpiprazole as an Adjunctive Treatment to Paroxetine or Sertraline in Adult Patients Suffering From Post-traumatic Stress Disorder (PTSD) Terminated NCT01987960 Phase 3
29 Study of Reduced Toxicity Myeloablative Conditioning Regimen for Wiskott-Aldrich Syndrome (WAS) Completed NCT00885833 Phase 1, Phase 2
30 Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells Completed NCT00730314 Phase 1, Phase 2
31 Clinical Research on the Treatments on Advanced Malignant Melanoma by Combining in Situ Immunotherapy and Laser Therapy Completed NCT02372708 Phase 2
32 A Study of Two Different Schedules of Xeloda (Capecitabine) as First Line Therapy in Patients With Metastatic Colorectal Cancer Completed NCT00118755 Phase 2
33 Effects of the Anti-inflammatory Flavonoid Luteolin on Behavior in Children With Autism Spectrum Disorders Completed NCT01847521 Phase 2
34 Interventional Study in Adults With Immune Thrombocytopenia Purpura (ITP) Receiving Romiplostim Completed NCT01143038 Phase 2
35 A Study in Patients With Moderate to Severe Active Rheumatoid Arthritis Comparing Different Infusion Durations of RoActemra/Actemra (Tocilizumab) Treatment Completed NCT01468077 Phase 2
36 Gene Therapy for Wiskott-Aldrich Syndrome (WAS) Recruiting NCT01347242 Phase 1, Phase 2
37 Gene Therapy for WAS Recruiting NCT01347346 Phase 1, Phase 2
38 Gene Therapy for WAS Follow-up Recruiting NCT02333760 Phase 1, Phase 2
39 A Trial of Plerixafor/G-CSF as Additional Agents for Conditioning Before TCR Alpha/Beta Depleted HSCT in WAS Patients Recruiting NCT03019809 Phase 2
40 Immune Disorder HSCT Protocol Recruiting NCT01821781 Phase 2
41 Sequential Cadaveric Lung and Bone Marrow Transplant for Immune Deficiency Diseases Recruiting NCT01852370 Phase 1, Phase 2
42 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2
43 Treosulfan and Fludarabine Phosphate Before Donor Stem Cell Transplant in Treating Patients With Nonmalignant Inherited Disorders Recruiting NCT00919503 Phase 2
44 Low Dose Cytarabine and Lintuzumab-Ac225 in Older AML Patients Recruiting NCT02575963 Phase 1, Phase 2
45 Gene Therapy for Wiskott-Aldrich Syndrome Active, not recruiting NCT01515462 Phase 2
46 Pilot and Feasibility Study of Hematopoietic Stem Cell Gene Transfer for the Wiskott-Aldrich Syndrome Active, not recruiting NCT01410825 Phase 1, Phase 2
47 Thrombocytopenia and Bleeding in Wiskott-Aldrich Syndrome (WAS) Patients Active, not recruiting NCT00909363 Phase 2
48 Fludarabine Phosphate, Melphalan, and Low-Dose Total-Body Irradiation Followed by Donor Peripheral Blood Stem Cell Transplant in Treating Patients With Hematologic Malignancies Active, not recruiting NCT01529827 Phase 2
49 Belatacept Post Depletional Repopulation to Facilitate Tolerance Active, not recruiting NCT00565773 Phase 2
50 Related Hematopoietic Stem Cell Transplantation (HSCT) for Genetic Diseases of Blood Cells Terminated NCT02512679 Phase 2

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:

id Genetic test Affiliating Genes
1 Wiskott-Aldrich Syndrome 29 24 WAS

Anatomical Context for Wiskott-Aldrich Syndrome

MalaCards organs/tissues related to Wiskott-Aldrich Syndrome:

39
T Cells, B Cells, Bone, Bone Marrow, Skin, Testes, Thymus

Publications for Wiskott-Aldrich Syndrome

Articles related to Wiskott-Aldrich Syndrome:

(show top 50) (show all 627)
id Title Authors Year
1
Successful HLA haploidentical HSCT with post-transplant cyclophosphamide in Wiskott-Aldrich syndrome. ( 28287640 )
2017
2
Safe and Effective Gene Therapy for Murine Wiskott-Aldrich Syndrome Using an Insulated Lentiviral Vector. ( 28344987 )
2017
3
A risk factor analysis of outcomes after unrelated cord blood transplantation for children with Wiskott-Aldrich syndrome. ( 28255019 )
2017
4
50 Years Ago in The Journal of Pediatrics: Wiskott-Aldrich Syndrome: Clinical, Immunologic, and Pathologic Observations. ( 28129868 )
2017
5
Phase I trial of low-dose interleukin 2 therapy in patients with Wiskott-Aldrich syndrome. ( 28232030 )
2017
6
Neural Wiskott-Aldrich syndrome protein (nWASP) is implicated in human lung cancer invasion. ( 28351346 )
2017
7
Activation of compensatory pathways via Rac2 in the absence of the Cdc42 effector Wiskott-Aldrich syndrome protein in Dendritic cells. ( 28129089 )
2017
8
In Vivo Chronic Stimulation Unveils Autoreactive Potential of Wiskott-Aldrich Syndrome Protein-Deficient B Cells. ( 28512459 )
2017
9
Un-manipulated Haploidentical Transplant in Wiskott-Aldrich Syndrome. ( 28474594 )
2017
10
Low T Cell Numbers Resembling T-B+ SCID in a Patient with Wiskott-Aldrich Syndrome and the Outcome of Two Hematopoietic Stem Cell Transplantations. ( 27900584 )
2017
11
Retraction Note to: Clinical significance and expression of the PRSS3 and Wiskott-Aldrich syndrome protein family verprolin-homologous protein 1 for the early detection of epithelial ovarian cancer. ( 27817076 )
2016
12
Neuronal Wiskott-Aldrich syndrome protein regulates TGF-I^1-mediated lung vascular permeability. ( 27025963 )
2016
13
A Wiskott-Aldrich syndrome protein is involved in endocytosis in Aspergillus nidulans. ( 26927610 )
2016
14
Wiskott-Aldrich Syndrome Presenting with JMML-Like Blood Picture and Normal Sized Platelets. ( 27340577 )
2016
15
A rare case of Wiskott-Aldrich Syndrome with normal platelet size: a case report. ( 27356510 )
2016
16
The early activation of memory B cells from Wiskott-Aldrich syndrome patients is suppressed by CD19 down regulation. ( 27330000 )
2016
17
Abnormalities of follicular helper T-cell number and function in Wiskott-Aldrich syndrome. ( 27170596 )
2016
18
Deletion of Wiskott-Aldrich syndrome protein triggers Rac2 activity and increased cross-presentation by dendritic cells. ( 27425374 )
2016
19
Successful Long-term Graft Survival of a Renal Transplantation Patient with Wiskott-Aldrich Syndrome. ( 27374679 )
2016
20
Novel WASP mutation in a patient with Wiskott-Aldrich syndrome: Case report and review of the literature. ( 26993433 )
2016
21
CLINICAL FEATURES AND GENETIC ANALYSIS OF SIX PATIENTS WITH WISKOTT-ALDRICH SYNDROME REPORTING TWO NOVEL MUTATIONS: EXPERIENCE OF ERCIYES UNIVERSITY, KAYSERI, TURKEY. ( 27192888 )
2016
22
Sclerosing cholangitis and intracranial lymphoma in a child with classical Wiskott-Aldrich syndrome. ( 27566838 )
2016
23
Biochemical Activities of the Wiskott-Aldrich Syndrome Homology Region 2 Domains of Sarcomere Length Short (SALS) Protein. ( 26578512 )
2016
24
O-008a88Aberrant Anti-inflammatory Macrophage Function and Differentiation in Wiskott-Aldrich Syndrome Protein-Deficient Mice and Humans. ( 26849726 )
2016
25
Local treatment for scleritis secondary to Wiskott-Aldrich syndrome. ( 26951873 )
2016
26
Gene Correction of iPSCs from a Wiskott-Aldrich Syndrome Patient Normalizes the Lymphoid Developmental and Functional Defects. ( 27396937 )
2016
27
Postnatal cytomegalovirus infection in an infant with congenital thrombocytopenia: how it can support or mislead the diagnosis of Wiskott-Aldrich syndrome. ( 27668906 )
2016
28
Wiskott-Aldrich syndrome in a child presenting with macrothrombocytopenia. ( 27885891 )
2016
29
Clinical significance and expression of the PRSS3 and Wiskott-Aldrich syndrome protein family verprolin-homologous protein 1 for the early detection of epithelial ovarian cancer. ( 26662304 )
2016
30
Successful second bone marrow transplantation in a Wiskott-Aldrich syndrome patient with systemic vasculitis. ( 26768411 )
2016
31
The cell division control protein 42-Src family kinase-neural Wiskott-Aldrich syndrome protein pathway regulates human proplatelet formation. ( 27685868 )
2016
32
Allergy in Wiskott-Aldrich syndrome. ( 27760100 )
2016
33
Wiskott-Aldrich Syndrome: Description of a New Gene Mutation Without Immunodeficiency. ( 26583625 )
2016
34
Immune Complex-Mediated Glomerulonephritis in a Patient with Wiskott-Aldrich Syndrome. ( 26961359 )
2016
35
IL-2 in the tumor microenvironment is necessary for Wiskott-Aldrich syndrome protein deficient NK cells to respond to tumors in vivo. ( 27477778 )
2016
36
Molecular characterization of two Malaysian patients with Wiskott-Aldrich syndrome. ( 26277674 )
2015
37
Tricornered Kinase Regulates Synapse Development by Regulating the Levels of Wiskott-Aldrich Syndrome Protein. ( 26393506 )
2015
38
Effects of Wiskott-Aldrich syndrome protein deficiency on IL-10-producing regulatory B cells in humans and mice. ( 25728049 )
2015
39
Wiskott-Aldrich Syndrome Interacting Protein Deficiency Uncovers the Role of the Co-receptor CD19 as a Generic Hub for PI3 Kinase Signaling in B Cells. ( 26453379 )
2015
40
B-cell intrinsic TLR7 signals promote depletion of the marginal zone in a murine model of Wiskott-Aldrich syndrome. ( 26256668 )
2015
41
Lentiviral-mediated gene therapy restores B cell tolerance in Wiskott-Aldrich syndrome patients. ( 26368308 )
2015
42
B-cell reconstitution after lentiviral vector-mediated gene therapy in patients with Wiskott-Aldrich syndrome. ( 25792466 )
2015
43
Effects of eltrombopag on platelet count and platelet activation in Wiskott-Aldrich syndrome/X-linked thrombocytopenia. ( 26224646 )
2015
44
Successful renal transplantation in a patient with a Wiskott-Aldrich syndrome protein (WASP) gene mutation. ( 25864580 )
2015
45
Outcomes following gene therapy in patients with severe Wiskott-Aldrich syndrome. ( 25898053 )
2015
46
Retraction: Novel self-inactivating vectors for reconstitution of wiskott-Aldrich syndrome. ( 25963902 )
2015
47
Wiskott-Aldrich Syndrome proteins in the nucleus: aWASH with possibilities. ( 26305109 )
2015
48
Signal Integration during T Lymphocyte Activation and Function: Lessons from the Wiskott-Aldrich Syndrome. ( 25709608 )
2015
49
The clinical features of autoimmunity in 53 patients with Wiskott-Aldrich syndrome in China: a single-center study. ( 25877044 )
2015
50
Evidence for inducible recruitment of Wiskott-Aldrich syndrome protein to T cell receptor-CD3 complex in Jurkat T cells. ( 26342115 )
2015

Variations for Wiskott-Aldrich Syndrome

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

66 (show all 19)
id Symbol AA change Variation ID SNP ID
1 WAS p.Glu31Lys VAR_005825
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

ClinVar genetic disease variations for Wiskott-Aldrich Syndrome:

6 (show all 19)
id Gene Variation 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 Chromosome X, 48542796: 48542796
3 WAS NM_000377.2(WAS): c.257G> A (p.Arg86His) single nucleotide variant Pathogenic rs132630268 GRCh37 Chromosome X, 48542796: 48542796
4 WAS NM_000377.2(WAS): c.100C> T (p.Arg34Ter) single nucleotide variant Pathogenic rs132630271 GRCh37 Chromosome X, 48542342: 48542342
5 WAS NM_000377.2(WAS): c.1A> T (p.Met1Leu) single nucleotide variant Pathogenic rs587776742 GRCh37 Chromosome X, 48542243: 48542243
6 WAS NM_000377.2(WAS): c.395_400dupACGAGG (p.Glu133_Ala134insAspGlu) duplication Pathogenic rs587776743 GRCh37 Chromosome X, 48544157: 48544162
7 WAS NM_000377.2(WAS): c.1097delG (p.Gly366Alafs) deletion Pathogenic rs587776744 GRCh37 Chromosome 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 rs587776745 GRCh37 Chromosome 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 WAS NM_000377.2(WAS): c.310C> T (p.Gln104Ter) single nucleotide variant Likely pathogenic rs193922414 GRCh37 Chromosome X, 48543972: 48543972
17 WAS NM_000377.2(WAS): c.37C> T (p.Arg13Ter) single nucleotide variant Pathogenic rs193922415 GRCh37 Chromosome X, 48542279: 48542279
18 WAS NM_000377.2(WAS): c.763dupC (p.Gln255Profs) duplication Likely pathogenic rs193922416 GRCh37 Chromosome X, 48546471: 48546471
19 WAS NM_000377.2(WAS): c.777+1G> A single nucleotide variant Pathogenic rs1057517845 GRCh37 Chromosome X, 48546486: 48546486

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 GeneCards Suite gene sharing:

(show top 50) (show all 60)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
14.21 ACTR2 ACTR3 BTK CDC42 FYN NCK1
2
Show member pathways
14.07 ACTR2 ACTR3 BTK CDC42 FYN NCK1
3
Show member pathways
13.88 ACTR2 ACTR3 BTK CDC42 FYN SRC
4
Show member pathways
13.74 ACTR2 ACTR3 BTK CDC42 FYN NCK1
5
Show member pathways
13.44 ACTR2 ACTR3 BTK CDC42 FYN SRC
6
Show member pathways
13.35 ACTR2 ACTR3 BTK CDC42 FYN SRC
7
Show member pathways
13.04 ACTR2 ACTR3 CDC42 NCK1 SRC WAS
8
Show member pathways
13.02 ACTR2 ACTR3 CDC42 SRC WAS WASF1
9
Show member pathways
12.98 ACTR2 ACTR3 BTK CDC42 FYN NCK1
10
Show member pathways
12.71 ACTR2 ACTR3 CDC42 SRC WAS WASF1
11 12.68 CDC42 SRC WAS WASF1 WASF2 WASL
12
Show member pathways
12.68 ACTR2 ACTR3 CDC42 FYN NCK1 SRC
13
Show member pathways
12.62 BTK CDC42 FYN SRC WIPF1
14
Show member pathways
12.59 ACTR2 ACTR3 CDC42 FYN NCK1 SRC
15
Show member pathways
12.58 ACTR2 ACTR3 CDC42 FYN WAS WIPF1
16 12.56 ACTR2 ACTR3 CDC42 NCK1 WAS WASF2
17 12.49 CDC42 SRC WAS WASL WIPF1
18
Show member pathways
12.48 CDC42 FYN NCK1 PSTPIP1 WAS
19
Show member pathways
12.48 FYN WAS WASF1 WASF2 WASF3 WASL
20
Show member pathways
12.44 ACTR2 ACTR3 CDC42 FYN WAS
21
Show member pathways
12.43 ACTR2 ACTR3 SNX9 TRIP10 WASL
22
Show member pathways
12.4 ACTR2 ACTR3 CDC42 WASL
23
Show member pathways
12.4 CDC42 FYN NCK1 SRC
24
Show member pathways
12.38 BTK CDC42 FYN NCK1
25
Show member pathways
12.35 ACTR2 ACTR3 SRC WAS
26
Show member pathways
12.35 ACTR2 ACTR3 CDC42 FYN NCK1 SRC
27
Show member pathways
12.33 ACTR2 ACTR3 BTK CDC42 NCK1 NCKIPSD
28 12.27 ACTR2 ACTR3 CDC42 SRC WAS WASL
29 12.25 CDC42 FYN NCK1 SRC
30
Show member pathways
12.16 ACTR2 ACTR3 CDC42 SRC WAS WASF1
31 12.15 CDC42 FYN NCK1 SRC
32 12.14 BTK FYN NCK1 SRC
33
Show member pathways
12.1 ACTR2 ACTR3 BTK CDC42 FYN NCK1
34 12.08 ACTR2 ACTR3 CDC42 FYN NCK1 WASL
35 12.01 ACTR2 ACTR3 CDC42 SRC WASF2 WASL
36
Show member pathways
12 CDC42 FYN NCK1 WAS
37 11.95 CDC42 WAS WASF1 WASF2 WASF3 WASL
38 11.93 CDC42 FYN SRC
39
Show member pathways
11.92 BTK FYN NCK1
40
Show member pathways
11.92 CDC42 FYN NCK1 SRC
41 11.92 CDC42 WAS WASF1 WASF2 WASL
42
Show member pathways
11.85 CDC42 FYN NCK1 SRC WASL
43 11.81 CDC42 SRC WAS WASF1 WASF2 WASL
44 11.77 ACTR2 ACTR3 NCK1 SRC
45 11.69 CDC42 SRC WAS WASF1 WASF2 WASL
46 11.62 CDC42 FYN SRC WAS WASF1 WASF2
47 11.61 FYN NCK1 SRC
48 11.61 FYN SRC WASL
49 11.6 ACTR2 ACTR3 CDC42 WASL
50 11.47 BTK FYN SRC

GO Terms for Wiskott-Aldrich Syndrome

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

(show all 15)
id Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.86 ACTR2 ACTR3 CDC42 PSTPIP1 SNX9 TRIP10
2 cell-cell junction GO:0005911 9.8 ACTR3 CDC42 NCK1 WAS WASF2
3 extrinsic component of cytoplasmic side of plasma membrane GO:0031234 9.73 BTK FYN SNX9 SRC
4 ruffle GO:0001726 9.72 SNX9 WASF2 WIPF1
5 actin cytoskeleton GO:0015629 9.7 ACTR2 ACTR3 WAS WASF1 WASF2 WASL
6 actin filament GO:0005884 9.62 FYN SRC WAS WIPF1
7 Arp2/3 protein complex GO:0005885 9.54 ACTR2 ACTR3
8 uropod GO:0001931 9.52 PSTPIP1 SPN
9 SCAR complex GO:0031209 9.51 WASF1 WASF2
10 lamellipodium GO:0030027 9.5 ACTR2 ACTR3 PSTPIP1 WASF1 WASF2 WASF3
11 actin cap GO:0030478 9.49 ACTR2 WASL
12 cytoskeleton GO:0005856 9.4 ACTR2 ACTR3 CDC42 PSTPIP1 SRC TRIP10
13 cytoplasm GO:0005737 10.36 ACTR2 ACTR3 BTK CDC42 FYN NCK1
14 cytosol GO:0005829 10.24 ACTR2 ACTR3 BTK CDC42 FYN NCK1
15 extracellular exosome GO:0070062 10.22 ACTR2 ACTR3 CDC42 SNX9 SPN SRC

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

(show all 33)
id Name GO ID Score Top Affiliating Genes
1 membrane organization GO:0061024 9.95 ACTR2 ACTR3 SNX9 TRIP10 WASL
2 cell migration GO:0016477 9.93 FYN NCK1 PSTPIP1 SRC
3 endocytosis GO:0006897 9.91 CDC42 PSTPIP1 SNX9 TRIP10 WASF2
4 protein complex assembly GO:0006461 9.85 WAS WASF1 WASF3 WASL WIPF1
5 movement of cell or subcellular component GO:0006928 9.84 ACTR2 ACTR3 WASF1 WASL
6 T cell costimulation GO:0031295 9.83 CDC42 FYN SPN SRC
7 positive regulation of neuron projection development GO:0010976 9.82 FYN NCK1 NCKIPSD
8 T cell activation GO:0042110 9.79 FYN NCK1 WAS
9 peptidyl-tyrosine autophosphorylation GO:0038083 9.79 BTK FYN SRC
10 lamellipodium assembly GO:0030032 9.75 NCK1 WASF2 WASF3
11 actin filament polymerization GO:0030041 9.74 WAS WASF1 WASF3
12 actin filament organization GO:0007015 9.73 ACTR2 ACTR3 CDC42 NCK1 WAS WASL
13 vascular endothelial growth factor receptor signaling pathway GO:0048010 9.72 CDC42 FYN NCK1 SRC WASF2
14 establishment or maintenance of cell polarity GO:0007163 9.71 ACTR2 ACTR3 CDC42 SPN
15 actin cytoskeleton organization GO:0030036 9.7 ACTR2 CDC42 TRIP10 WASF1 WASF2 WASF3
16 actin filament-based movement GO:0030048 9.67 WAS WASF2 WIPF1
17 cellular response to peptide hormone stimulus GO:0071375 9.66 FYN SRC
18 positive regulation of lamellipodium assembly GO:0010592 9.65 CDC42 WASF2
19 regulation of stress fiber assembly GO:0051492 9.65 CDC42 WAS
20 actin polymerization or depolymerization GO:0008154 9.65 WAS WASL WIPF1
21 dendritic spine morphogenesis GO:0060997 9.64 CDC42 WASL
22 regulation of lamellipodium assembly GO:0010591 9.64 CDC42 WAS
23 signal complex assembly GO:0007172 9.63 NCK1 SRC
24 lamellipodium morphogenesis GO:0072673 9.62 WASF1 WASF2
25 asymmetric cell division GO:0008356 9.61 ACTR2 ACTR3
26 positive regulation of Arp2/3 complex-mediated actin nucleation GO:2000601 9.61 WAS WASF1 WASL
27 response to other organism GO:0051707 9.6 NCK1 WIPF1
28 Cdc42 protein signal transduction GO:0032488 9.59 CDC42 WAS
29 meiotic chromosome movement towards spindle pole GO:0016344 9.58 ACTR2 ACTR3
30 meiotic cytokinesis GO:0033206 9.56 ACTR2 ACTR3
31 spindle localization GO:0051653 9.54 ACTR2 ACTR3 WASL
32 ephrin receptor signaling pathway GO:0048013 9.5 ACTR2 ACTR3 CDC42 FYN NCK1 SRC
33 Fc-gamma receptor signaling pathway involved in phagocytosis GO:0038096 9.36 ACTR2 ACTR3 CDC42 FYN NCK1 NCKIPSD

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

id Name GO ID Score Top Affiliating Genes
1 cadherin binding GO:0045296 9.71 NCK1 SNX9 SRC WASF2
2 protein complex binding GO:0032403 9.67 FYN SRC WASF1 WASF2
3 non-membrane spanning protein tyrosine kinase activity GO:0004715 9.5 BTK FYN SRC
4 SH3 domain binding GO:0017124 9.46 NCKIPSD WAS WASF2 WIPF1
5 GTPase regulator activity GO:0030695 9.43 WAS WASL
6 growth factor receptor binding GO:0070851 9.26 FYN SRC
7 actin binding GO:0003779 9.23 ACTR2 ACTR3 WAS WASF1 WASF2 WASF3
8 ephrin receptor binding GO:0046875 9.13 FYN NCK1 SRC

Sources for Wiskott-Aldrich Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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