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MCID: WSK001
MIFTS: 76

Wiskott-Aldrich Syndrome

Categories: Genetic diseases, Rare diseases, Immune diseases, Blood diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Wiskott-Aldrich Syndrome

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MalaCards integrated aliases for Wiskott-Aldrich Syndrome:

Name: Wiskott-Aldrich Syndrome 53 37 12 24 55 71 36 28 13 13 51 41 14 69
Eczema-Thrombocytopenia-Immunodeficiency Syndrome 53 24 55 71
Immunodeficiency 2 53 49 24 71
Was 53 49 55 71
Aldrich Syndrome 53 49 71
Imd2 53 24 71
Wiskott-Aldrich Syndrome 1 53 71
Wiskott Syndrome 12 24
Was1 53 71
Eczema Thrombocytopenia Immunodeficiency Syndrome 49
Wiskott-Aldrich Syndrome 1; Was1 53
Immunodeficiency 2; Imd2 53
Wiskott Aldrich Syndrome 49
Imd 2 49

Characteristics:

Orphanet epidemiological data:

55
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:

53
Inheritance:
x-linked recessive


HPO:

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


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Immune diseases Blood diseases Skin diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 55  
Rare skin diseases
Rare haematological diseases
Rare immunological diseases


Sources

Summaries for Wiskott-Aldrich Syndrome

About this section
NIH Rare Diseases : 49 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. Last updated: 12/5/2017

MalaCards based summary : Wiskott-Aldrich Syndrome, also known as eczema-thrombocytopenia-immunodeficiency syndrome, is related to agammaglobulinemia, x-linked and wiskott-aldrich syndrome 2, 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 Endocytosis and Regulation of actin cytoskeleton. The drugs Benzocaine and Zinc have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and bone marrow, 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

OMIM : 53 Wiskott-Aldrich syndrome (WAS) is an X-linked recessive immunodeficiency characterized by thrombocytopenia, eczema, and recurrent infections (Lemahieu et al., 1999). (301000)

UniProtKB/Swiss-Prot : 71 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 : 24 Wiskott-Aldrich syndrome is characterized by abnormal immune system function (immune deficiency) and a reduced ability to form blood clots. This condition primarily affects males.

Wikipedia : 72 Wiskott–Aldrich syndrome (WAS) is a rare X-linked recessive disease characterized by eczema,... more...

Sources

Related Diseases for Wiskott-Aldrich Syndrome

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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 103)
# Related Disease Score Top Affiliating Genes
1 agammaglobulinemia, x-linked 29.5 BTK SRC WAS
2 wiskott-aldrich syndrome 2 12.6
3 wiskott-aldrich syndrome, autosomal dominant form 12.3
4 storage pool platelet disease 11.3
5 specific antibody deficiency 11.3
6 immunodeficiency, common variable, 2 10.8
7 thrombocytopenia 10.8
8 thrombocytopenia 1 10.7
9 lymphoma 10.6
10 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.5
11 aneurysm 10.5
12 hematopoietic stem cell transplantation 10.4
13 neuronitis 10.4
14 purpura 10.4
15 aortic aneurysm 10.3
16 herpes simplex 10.3
17 autoimmune lymphoproliferative syndrome, type v 10.3
18 colitis 10.3
19 aortic aneurysm, familial thoracic 1 10.2
20 glomerulonephritis 10.2
21 dermatitis 10.2
22 vasculitis 10.2
23 cytomegalovirus infection 10.2
24 ring chromosome y syndrome 10.2
25 ovarian cancer 10.1
26 lymphoma, hodgkin, classic 10.1
27 dermatitis, atopic 10.1
28 lymphoma, non-hodgkin, familial 10.1
29 juvenile myelomonocytic leukemia 10.1
30 b-cell lymphomas 10.1
31 leukemia 10.1
32 lymphomatoid granulomatosis 10.1
33 neutropenia 10.1
34 thrombotic thrombocytopenic purpura 10.1
35 sclerosing cholangitis 10.1
36 progressive multifocal leukoencephalopathy 10.1
37 cholangitis 10.1
38 spinocerebellar ataxia, autosomal recessive 1 10.0 WAS WASF1 WASL
39 alzheimer disease 10.0
40 burkitt lymphoma 10.0
41 hepatocellular carcinoma 10.0
42 hashimoto thyroiditis 10.0
43 renal cell carcinoma, nonpapillary 10.0
44 endosteal hyperostosis, autosomal dominant 10.0
45 intussusception 10.0
46 keratitis, hereditary 10.0
47 systemic lupus erythematosus 10.0
48 neurofibromatosis, type iv, of riccardi 10.0
49 lung cancer 10.0
50 complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy 10.0

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



Diseases related to Wiskott-Aldrich Syndrome
Sources

Symptoms & Phenotypes for Wiskott-Aldrich Syndrome

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Symptoms via clinical synopsis from OMIM:

53
Abdomen Gastroin testinal:
diarrhea
hematemesis
melena
inflammatory bowel disease

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

Head And Neck Ears:
otitis media

Neurologic Central Nervous System:
meningitis

Respiratory Lung:
pneumonia

Head And Neck Mouth:
oral bleeding

Genitourinary Kidneys:
nephropathy

Head And Neck Head:
sinusitis

Skin Nails Hair Skin:
purpura
eczema
petechiae

Head And Neck Nose:
epistaxis

Laboratory Abnormalities:
prolonged bleeding time
increased ige levels
reduced igm levels
normal igg levels
increased iga levels
more
Respiratory Airways:
upper respiratory tract infections
lower respiratory tract infections


Clinical features from OMIM:

301000

Human phenotypes related to Wiskott-Aldrich Syndrome:

55 31 (show top 50) (show all 73)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fatigue 55 31 frequent (33%) Frequent (79-30%) HP:0012378
2 dyspnea 55 31 frequent (33%) Frequent (79-30%) HP:0002094
3 fever 55 31 hallmark (90%) Very frequent (99-80%) HP:0001945
4 chest pain 55 31 occasional (7.5%) Occasional (29-5%) HP:0100749
5 sudden cardiac death 55 31 occasional (7.5%) Occasional (29-5%) HP:0001645
6 chronic otitis media 55 31 hallmark (90%) Very frequent (99-80%) HP:0000389
7 arthritis 55 31 occasional (7.5%) Occasional (29-5%) HP:0001369
8 recurrent respiratory infections 55 31 hallmark (90%) Very frequent (99-80%) HP:0002205
9 nephropathy 55 31 occasional (7.5%) Occasional (29-5%) HP:0000112
10 immunodeficiency 55 31 hallmark (90%) Very frequent (99-80%) HP:0002721
11 hemolytic anemia 55 31 frequent (33%) Frequent (79-30%) HP:0001878
12 peripheral neuropathy 55 31 occasional (7.5%) Occasional (29-5%) HP:0009830
13 sinusitis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000246
14 specific learning disability 55 31 frequent (33%) Frequent (79-30%) HP:0001328
15 autoimmunity 55 31 frequent (33%) Frequent (79-30%) HP:0002960
16 inflammation of the large intestine 55 31 frequent (33%) Frequent (79-30%) HP:0002037
17 thrombocytopenia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001873
18 microcytic anemia 55 31 frequent (33%) Frequent (79-30%) HP:0001935
19 skin ulcer 55 31 occasional (7.5%) Occasional (29-5%) HP:0200042
20 spontaneous hematomas 55 31 hallmark (90%) Very frequent (99-80%) HP:0007420
21 glomerulopathy 55 31 occasional (7.5%) Occasional (29-5%) HP:0100820
22 keratitis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000491
23 blepharitis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000498
24 chronic obstructive pulmonary disease 55 31 hallmark (90%) Very frequent (99-80%) HP:0006510
25 lymphopenia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001888
26 hypoplasia of the thymus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000778
27 otitis media 55 31 Very frequent (99-80%) HP:0000388
28 epistaxis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000421
29 conjunctivitis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000509
30 meningitis 55 31 occasional (7.5%) Occasional (29-5%) HP:0001287
31 neutropenia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001875
32 chronic diarrhea 55 31 hallmark (90%) Very frequent (99-80%) HP:0002028
33 sepsis 55 31 occasional (7.5%) Occasional (29-5%) HP:0100806
34 abnormality of the menstrual cycle 55 31 occasional (7.5%) Occasional (29-5%) HP:0000140
35 bruising susceptibility 55 31 hallmark (90%) Very frequent (99-80%) HP:0000978
36 gingival bleeding 55 31 occasional (7.5%) Occasional (29-5%) HP:0000225
37 eczema 55 31 occasional (7.5%) Occasional (29-5%) HP:0000964
38 petechiae 55 31 frequent (33%) Frequent (79-30%) HP:0000967
39 urticaria 55 31 occasional (7.5%) Occasional (29-5%) HP:0001025
40 abnormality of eosinophils 55 31 frequent (33%) Frequent (79-30%) HP:0001879
41 intracranial hemorrhage 55 31 occasional (7.5%) Occasional (29-5%) HP:0002170
42 hematemesis 55 31 frequent (33%) Frequent (79-30%) HP:0002248
43 acute leukemia 55 31 occasional (7.5%) Occasional (29-5%) HP:0002488
44 hematochezia 55 31 frequent (33%) Frequent (79-30%) HP:0002573
45 vasculitis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002633
46 lymphoma 55 31 occasional (7.5%) Occasional (29-5%) HP:0002665
47 prolonged bleeding time 55 31 hallmark (90%) Very frequent (99-80%) HP:0003010
48 chronic leukemia 55 31 occasional (7.5%) Occasional (29-5%) HP:0005558
49 recurrent intrapulmonary hemorrhage 55 31 occasional (7.5%) Occasional (29-5%) HP:0006535
50 abnormal platelet function 55 31 occasional (7.5%) Occasional (29-5%) HP:0011869

UMLS symptoms related to Wiskott-Aldrich Syndrome:


petechiae of skin, diarrhea

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

25
# 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
Sources

Drugs & Therapeutics for Wiskott-Aldrich Syndrome

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

(show top 50) (show all 283)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Benzocaine Approved, Investigational Phase 4,Phase 3 1994-09-7, 94-09-7 2337
2
Zinc Approved, Investigational Phase 4 7440-66-6 32051 23994
3
Ranibizumab Approved Phase 4 347396-82-1 459903
4
Everolimus Approved Phase 4,Phase 2 159351-69-6 6442177
5
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 2 22916-47-8 4189
6
Mycophenolate mofetil Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 128794-94-5 5281078
7
Mycophenolic acid Approved Phase 4,Phase 3,Phase 2,Phase 1 24280-93-1 446541
8
Sirolimus Approved, Investigational Phase 4,Phase 2 53123-88-9 46835353 6436030 5284616
9
Diltiazem Approved, Investigational Phase 4,Phase 3 42399-41-7 39186
10
Pitavastatin Approved Phase 4 147511-69-1, 147526-32-7 5282452 6366718
11
Dexmedetomidine Approved, Vet_approved Phase 4 76631-46-4, 113775-47-6 5311068 56032 68602
12
Amlodipine Approved Phase 4 88150-42-9 2162
13
Angiotensin II Approved, Investigational Phase 4 68521-88-0, 4474-91-3, 11128-99-7 172198 65143
14
Benazepril Approved, Investigational Phase 4 86541-75-5 5362124
15
Hydrochlorothiazide Approved, Vet_approved Phase 4 58-93-5 3639
16
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
17
Dopamine Approved Phase 4,Phase 3 51-61-6, 62-31-7 681
18
Fluoxetine Approved, Vet_approved Phase 4 54910-89-3 3386
19
Norepinephrine Approved Phase 4 51-41-2 439260
20
Calcium acetate Approved, Investigational Phase 4 62-54-4
21
Sevelamer Approved Phase 4 52757-95-6, 152751-57-0 3085017
22
Morphine Approved, Investigational Phase 4 57-27-2 5288826
23
Primaquine Approved Phase 4 90-34-6 4908
24
Glimepiride Approved Phase 4 93479-97-1 3476
25
Metformin Approved Phase 4 657-24-9 4091 14219
26
Ephedrine Approved Phase 4 299-42-3 9294
27
Pseudoephedrine Approved Phase 4 90-82-4 7028
28
Heparin Approved, Investigational Phase 4 9005-49-6 46507594 772
29
Mannitol Approved, Investigational Phase 4 69-65-8 6251 453
30
Glucosamine Approved, Investigational, Nutraceutical Phase 4 3416-24-8 439213
31
Niacin Approved, Investigational, Nutraceutical Phase 4 59-67-6 938
32
Nicotinamide Approved, Investigational, Nutraceutical Phase 4 98-92-0 936
33 tannic acid Approved, Nutraceutical Phase 4,Phase 3
34
Calcitriol Approved, Nutraceutical Phase 4 32222-06-3 5280453 134070
35
Ergocalciferol Approved, Nutraceutical Phase 4,Phase 3 50-14-6 5280793
36
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
37 Antibodies Phase 4,Phase 3,Phase 1,Phase 2
38 gamma-Globulins Phase 4,Phase 3
39 Immunoglobulins Phase 4,Phase 3,Phase 1,Phase 2
40 Immunoglobulins, Intravenous Phase 4,Phase 3
41 Rho(D) Immune Globulin Phase 4,Phase 3
42 Nicotinic Acids Phase 4
43 Angiogenesis Inhibitors Phase 4,Phase 2
44 Angiogenesis Modulating Agents Phase 4,Phase 2
45 Pharmaceutical Solutions Phase 4,Phase 3
46 Anti-Bacterial Agents Phase 4,Phase 3,Phase 2
47 Antibiotics, Antitubercular Phase 4,Phase 3,Phase 2
48 Antifungal Agents Phase 4,Phase 2
49 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
50 Antitubercular Agents Phase 4,Phase 3,Phase 2

Interventional clinical trials:

(show top 50) (show all 92)

# Name Status NCT ID Phase Drugs
1 Treatment Protocol of Child SAA With the Injection of Mesenchymal Stem Cells（Umbilical Cord Derived） Unknown status NCT02218437 Phase 4 MSC+ATG
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 Effects of Glucosamine and Chondroitin Supplementation in Women With Knee Osteoarthritis Participating in an Exercise and Weight Loss Program Completed NCT01271218 Phase 4
5 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 Ranibizumab 0.5 mg
6 Kidney Spare the Nephron (STN) Study - A Study of CellCept (Mycophenolate Mofetil) and Rapamune (Sirolimus) in Kidney Transplant Recipients Completed NCT00121810 Phase 4 mycophenolate mofetil [CellCept];Corticosteroids;Calcineurin inhibitors;Sirolimus
7 Drug-Drug Interaction of Cardizem LA (Diltiazem Hydrochloride) on Pitavastatin Completed NCT01422382 Phase 4 Pitavastatin (NK-104);Diltiazem (Cardizem LA) 240 mg QD
8 Postpartum Women's Dexmedetomidine Sedation Completed NCT02111421 Phase 4 Dexmedetomidine 01;Dexmetomidine 02
9 ADDM Study - Amtrel and Co-Diovan in Type 2 Diabetes Mellitus Hypertension Patients With Microalbuminuria Completed NCT01375322 Phase 4 Amlodipine+Benazepril;Valsartan+Hydrochlorothiazide
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 Dexmedetomidine 01;Dexmedetomidine 02
12 Duloxetine Treatment in Elderly With Dysthymia Completed NCT01852383 Phase 4 Duloxetine
13 Sevelamer, FGF-23 and Endothelial Dysfunction in Chronic Kidney Disease (CKD) Completed NCT01135615 Phase 4 Sevelamer;calcium acetate
14 Impact of Dihydroartemisinin-piperaquine Plus Primaquine on Malaria Transmission in Lampung Province, Sumatra Completed NCT01389557 Phase 4 Dihydroartemisinin-piperaquine with primaquine
15 Paricalcitol Effect on Anemia in CKD Completed NCT01768351 Phase 4 Paricalcitol;Calcitriol
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 Sitagliptin/Metformin FDC;Comparator: Glimepiride;Matching placebo to Sitagliptin/Metformin FDC;Matching placebo to glimepiride
17 Dihydroartemisinin-piperaquine and Primaquine for Uncomplicated Plasmodium Falciparum Cases Completed NCT01392014 Phase 4 dihydroartemisinin-piperaquine;dihydroartemisinin-piperaquine + primaquine
18 Treatment of CNV With Aflibercept Combined With Pranoprofen Eye Drops or Nutraceutical Support With Omega-3 Completed NCT03355638 Phase 4 Aflibercept Injection [Eylea];Pranoprofen Eyedrops;Omega-3 Supplementation
19 On-pump Beating Coronary Artery Bypass Grafting by Ventricular Assist Recruiting NCT02731794 Phase 4
20 The ED50 of DEX for Providing Sedation in Different Female Age Group Not yet recruiting NCT02773017 Phase 4 Dexmedetomidine A;Dexmedetomidine B;Dexmedetomidine C
21 Efficacy, Safety and Pharmacokinetics of Gammaplex in Primary Immunodeficiency Diseases. Completed NCT00278954 Phase 3
22 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 tocilizumab [RoActemra/Actemra]
23 Rapid Infusion of Immune Globulin Intravenous (Human) In Primary Immunodeficiency Patients Completed NCT00220766 Phase 3 Immune Globulin Intravenous [Human], 10% Caprylate/Chromatography Purified;Dextrose, 5% in Water
24 Topical Green Tea Ointment in Treatment of Superficial Skin Cancer Completed NCT02029352 Phase 2, Phase 3 Sinecatechins 10%;Placebo
25 Safety/Effectiveness Study of Cysteamine Bitartrate Delayed-release Capsules (RP103) in Cysteamine Treatment Naive Patients With Cystinosis Completed NCT01744782 Phase 3 RP103
26 Clevidipine in the Treatment of Blood Pressure in Patients With Acute Heart Failure (PRONTO) Completed NCT00803634 Phase 3 Clevidipine;Standard of Care IV antihypertensive
27 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 Paricalcitol;Placebo
28 Moxifloxacin in Pediatric Subjects With Complicated Intra-abdominal Infection Completed NCT01069900 Phase 3 Moxifloxacin (Avelox, BAY12-8039);Ertapenem;Amoxicillin/Clavulanate;Moxifloxacin placebo;Ertapenem placebo;Amoxicillin/Clavulanate placebo
29 Link Between the Sensitivity of Kisspeptin Signalling and Pubertal Onset in Boys. Completed NCT03286517 Phase 3
30 A Study of Mycophenolate Mofetil (CellCept) in Management of Patients With Lupus Nephritis. Completed NCT00377637 Phase 3 Mycophenolate mofetil (MMF);Cyclophosphamide;Azathioprine;Placebo to Azathioprine;Placebo to Mycophenolate mofetil;Corticosteroid
31 Brexpiprazole as an Adjunctive Treatment to Paroxetine or Sertraline in Adult Patients Suffering From Post-traumatic Stress Disorder (PTSD) Terminated NCT01987960 Phase 3 Placebo;Brexpiprazole
32 Gene Therapy for Wiskott-Aldrich Syndrome (WAS) Unknown status NCT01347242 Phase 1, Phase 2
33 Gene Therapy for WAS Unknown status NCT01347346 Phase 1, Phase 2
34 Study of Reduced Toxicity Myeloablative Conditioning Regimen for Wiskott-Aldrich Syndrome (WAS) Completed NCT00885833 Phase 1, Phase 2 Fludarabine, Busulfan, Thymoglobulin
35 Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells Completed NCT00730314 Phase 1, Phase 2
36 Clinical Research on the Treatments on Advanced Malignant Melanoma by Combining in Situ Immunotherapy and Laser Therapy Completed NCT02372708 Phase 2 dinitrophenyl(DNP)
37 A Study of Two Different Schedules of Xeloda (Capecitabine) as First Line Therapy in Patients With Metastatic Colorectal Cancer Completed NCT00118755 Phase 2 capecitabine;Oxaliplatin;bevacizumab;capecitabine;Oxaliplatin;bevacizumab
38 Effects of the Anti-inflammatory Flavonoid Luteolin on Behavior in Children With Autism Spectrum Disorders Completed NCT01847521 Phase 2
39 Interventional Study in Adults With Immune Thrombocytopenia Purpura (ITP) Receiving Romiplostim Completed NCT01143038 Phase 2
40 A Study in Patients With Moderate to Severe Active Rheumatoid Arthritis Comparing Different Infusion Durations of RoActemra/Actemra (Tocilizumab) Treatment Completed NCT01468077 Phase 2 Tocilizumab
41 Gene Therapy for WAS Follow-up Recruiting NCT02333760 Phase 1, Phase 2
42 A Trial of Plerixafor/G-CSF as Additional Agents for Conditioning Before TCR Alpha/Beta Depleted HSCT in WAS Patients Recruiting NCT03019809 Phase 2
43 Fludarabine Phosphate, Cyclophosphamide, Total Body Irradiation, and Donor Stem Cell Transplant in Treating Patients With Blood Cancer Recruiting NCT03333486 Phase 2 Cyclophosphamide;Fludarabine Phosphate
44 Immune Disorder HSCT Protocol Recruiting NCT01821781 Phase 2 Transplant preparative regimen of alemtuzumab, fludarabine, thiotepa, and melphalan
45 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
46 Lintuzumab-Ac225 in Older Acute Myeloid Leukemia (AML) Patients Recruiting NCT02575963 Phase 1, Phase 2 Cytarabine (Phase 1 only);Furosemide (Phase 1 only);Spironolactone
47 Gene Therapy for Wiskott-Aldrich Syndrome Active, not recruiting NCT01515462 Phase 2
48 Pilot and Feasibility Study of Hematopoietic Stem Cell Gene Transfer for the Wiskott-Aldrich Syndrome Active, not recruiting NCT01410825 Phase 1, Phase 2
49 Thrombocytopenia and Bleeding in Wiskott-Aldrich Syndrome (WAS) Patients Active, not recruiting NCT00909363 Phase 2 Promacta (eltrombopag);Eltrombopag/promacta
50 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 fludarabine phosphate;melphalan;tacrolimus;mycophenolate mofetil;methotrexate

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.
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) PMIDs: 10430905
Umbilical cord blood-derived hematopoietic stem cells (family)
Bone marrow-derived hematopoietic stem cells (family)

Cochrane evidence based reviews: wiskott-aldrich syndrome

Sources

Genetic Tests for Wiskott-Aldrich Syndrome

About this section

Genetic tests related to Wiskott-Aldrich Syndrome:

# Genetic test Affiliating Genes
1 Wiskott-Aldrich Syndrome 28
Sources

Anatomical Context for Wiskott-Aldrich Syndrome

About this section

MalaCards organs/tissues related to Wiskott-Aldrich Syndrome:

38
Bone, Skin, Bone Marrow, T Cells, B Cells, Kidney, Lung
Sources

Publications for Wiskott-Aldrich Syndrome

About this section

Articles related to Wiskott-Aldrich Syndrome:

(show top 50) (show all 655)
# Title Authors Year
1
Autonomous role of Wiskott-Aldrich Syndrome platelet deficiency in inducing autoimmunity and inflammation. ( 29421274 )
2018
2
Wiskott-Aldrich syndrome that was initially diagnosed as immune thrombocytopenic purpura secondary to a cytomegalovirus infection. ( 29348920 )
2018
3
Neutrophils drive type-I interferon production and autoantibodies in Wiskott-Aldrich syndrome. ( 29447842 )
2018
4
Somatic mutations activating Wiskott-Aldrich syndrome protein concomitant with RAS pathway mutations in juvenile myelomonocytic leukemia patients. ( 29316027 )
2018
5
Clinical Manifestations and Pathophysiological Mechanisms of the Wiskott-Aldrich Syndrome. ( 29086100 )
2018
6
The Wiskott-Aldrich Syndrome Protein Contributes to the Assembly of the LFA-1 Nanocluster Belt at the Lytic Synapse. ( 29386139 )
2018
7
Allogeneic Transplant for Mycosis Fungoides in Patient with Wiskott-Aldrich Syndrome. ( 29196934 )
2018
8
Identification of Wiskott-Aldrich syndrome protein (WASP) binding sites on the branched actin filament nucleator Arp2/3 complex. ( 29386393 )
2018
9
Unrelated umbilical cord stem cell transplantation in an eleven-month-old male infant with Wiskott-Aldrich syndrome. ( 29413229 )
2018
10
Activation of compensatory pathways via Rac2 in the absence of the Cdc42 effector Wiskott-Aldrich syndrome protein in Dendritic cells. ( 28129089 )
2017
11
R-loops cause genomic instability in T helper lymphocytes from patients with Wiskott-Aldrich syndrome. ( 29248492 )
2017
12
Outcomes after Allogeneic Transplant in Patients with Wiskott-Aldrich Syndrome. ( 29196075 )
2017
13
Comparison of ZFNs versus CRISPR specific nucleases for genome edition of the Wiskott-Aldrich Syndrome locus. ( 28922955 )
2017
14
In Vivo Chronic Stimulation Unveils Autoreactive Potential of Wiskott-Aldrich Syndrome Protein-Deficient B Cells. ( 28512459 )
2017
15
Wiskott-Aldrich syndrome protein: Emerging mechanisms in immunity. ( 28805251 )
2017
16
Un-manipulated Haploidentical Transplant in Wiskott-Aldrich Syndrome. ( 28474594 )
2017
17
Abnormal distribution of distinct lymphocyte subsets in children with Wiskott-Aldrich syndrome. ( 28535968 )
2017
18
Phase I trial of low-dose interleukin 2 therapy in patients with Wiskott-Aldrich syndrome. ( 28232030 )
2017
19
Platelets in Wiskott-Aldrich syndrome: victims or executioners? ( 28851742 )
2017
20
Successful Reduced Intensity Allogeneic Transplant With Full Donor Chimerism and Good Quality of Life in Adolescent Patient With Wiskott-Aldrich Syndrome. ( 28538502 )
2017
21
A risk factor analysis of outcomes after unrelated cord blood transplantation for children with Wiskott-Aldrich syndrome. ( 28255019 )
2017
22
Wiskott-Aldrich syndrome protein regulates autophagy and inflammasome activity in innate immune cells. ( 29146903 )
2017
23
Nuclear Wiskott-Aldrich syndrome protein co-regulates T cell factor 1-mediated transcription in T cells. ( 29078804 )
2017
24
Wiskott-Aldrich syndrome: Two case reports with a novel mutation. ( 29200320 )
2017
25
Gene therapy for Wiskott-Aldrich syndrome in a severely affected adult. ( 28716862 )
2017
26
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
27
Successful Reduced Intensity Conditioning Alternate Donor Stem Cell Transplant for Wiskott-Aldrich Syndrome. ( 28859032 )
2017
28
Safe and Effective Gene Therapy for Murine Wiskott-Aldrich Syndrome Using an Insulated Lentiviral Vector. ( 28344987 )
2017
29
Successful treatment of pyoderma gangrenosum with anakinra in a patient with Wiskott-Aldrich syndrome. ( 29214738 )
2017
30
Descending aortic aneurysm in Wiskott-Aldrich syndrome: options for repair. ( 29022827 )
2017
31
Childhood-onset inflammatory bowel diseases associated with mutation of Wiskott-Aldrich syndrome protein gene. ( 29358862 )
2017
32
Wiskott-Aldrich Syndrome Misdiagnosed as Immune Thrombocytopenic Purpura: A Case Report. ( 28859046 )
2017
33
50 Years Ago in The Journal of Pediatrics: Wiskott-Aldrich Syndrome: Clinical, Immunologic, and Pathologic Observations. ( 28129868 )
2017
34
Eltrombopag use in a patient with Wiskott-Aldrich syndrome. ( 28643468 )
2017
35
Neural Wiskott-Aldrich syndrome protein (nWASP) is implicated in human lung cancer invasion. ( 28351346 )
2017
36
Lung transplantation after haematopoietic stem cell transplantation for Wiskott-Aldrich syndrome. ( 29309544 )
2017
37
Successful HLA haploidentical HSCT with post-transplant cyclophosphamide in Wiskott-Aldrich syndrome. ( 28287640 )
2017
38
Intermittent low platelet counts hampering diagnosis of X-linked thrombocytopenia in children: report of two unrelated cases and a novel mutation in the gene coding for the Wiskott-Aldrich syndrome protein. ( 28641574 )
2017
39
Successful Long-term Graft Survival of a Renal Transplantation Patient with Wiskott-Aldrich Syndrome. ( 27374679 )
2016
40
Biochemical Activities of the Wiskott-Aldrich Syndrome Homology Region 2 Domains of Sarcomere Length Short (SALS) Protein. ( 26578512 )
2016
41
Sclerosing cholangitis and intracranial lymphoma in a child with classical Wiskott-Aldrich syndrome. ( 27566838 )
2016
42
Successful second bone marrow transplantation in a Wiskott-Aldrich syndrome patient with systemic vasculitis. ( 26768411 )
2016
43
Immune Complex-Mediated Glomerulonephritis in a Patient with Wiskott-Aldrich Syndrome. ( 26961359 )
2016
44
Wiskott-Aldrich Syndrome Presenting with JMML-Like Blood Picture and Normal Sized Platelets. ( 27340577 )
2016
45
Postnatal cytomegalovirus infection in an infant with congenital thrombocytopenia: how it can support or mislead the diagnosis of Wiskott-Aldrich syndrome. ( 27668906 )
2016
46
Local treatment for scleritis secondary to Wiskott-Aldrich syndrome. ( 26951873 )
2016
47
Abnormalities of follicular helper T-cell number and function in Wiskott-Aldrich syndrome. ( 27170596 )
2016
48
Allergy in Wiskott-Aldrich syndrome. ( 27760100 )
2016
49
Wiskott-Aldrich syndrome in a child presenting with macrothrombocytopenia. ( 27885891 )
2016
50
CLINICAL FEATURES AND GENETIC ANALYSIS OF SIX PATIENTS WITH WISKOTT-ALDRICH SYNDROME REPORTING TWO NOVEL MUTATIONS: EXPERIENCE OF ERCIYES UNIVERSITY, KAYSERI, TURKEY. ( 27192888 )
2016
Sources

Variations for Wiskott-Aldrich Syndrome

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

71 (show all 19)
# 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)
# 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
Sources

Expression for Wiskott-Aldrich Syndrome

About this section
Search GEO for disease gene expression data for Wiskott-Aldrich Syndrome.
Sources

Pathways for Wiskott-Aldrich Syndrome

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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 top 50) (show all 62)
# Super pathways Score Top Affiliating Genes
1
Signaling by GPCR 62
Show member pathways
 14.22 ACTR2 ACTR3 BTK CDC42 FYN NCK1
2
Innate Immune System 62
Show member pathways
 14.07 ACTR2 ACTR3 BTK CDC42 FYN NCK1
3
GPCR Pathway 60
Show member pathways
 13.74 ACTR2 ACTR3 BTK CDC42 FYN NCK1
4
PAK Pathway 60
Show member pathways
 13.36 ACTR2 ACTR3 BTK CDC42 FYN SRC
5
Actin Nucleation by ARP-WASP Complex 60
Show member pathways
 13.04 ACTR2 ACTR3 CDC42 NCK1 SRC WAS
6
fMLP Pathway 60
Show member pathways
 13.03 ACTR2 ACTR3 CDC42 SRC WAS WASF1
7
TCR Signaling (Qiagen) 60
Show member pathways
 12.98 ACTR2 ACTR3 BTK CDC42 FYN NCK1
8
Sertoli-Sertoli Cell Junction Dynamics 60
Show member pathways
 12.91 ACTR2 ACTR3 CDC42 SRC WAS
9
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases 21
Show member pathways
 12.71 ACTR2 ACTR3 CDC42 SRC WAS WASF1
10
Regulation of actin cytoskeleton 1 36
12.69 CDC42 SRC WAS WASF1 WASF2 WASL
11
EPH-Ephrin signaling 62
Show member pathways
 12.68 ACTR2 ACTR3 CDC42 FYN NCK1 SRC
12
Immune response Fc epsilon RI pathway 21
Show member pathways
 12.63 BTK CDC42 FYN SRC WIPF1
13
Immune response Role of DAP12 receptors in NK cells 21
Show member pathways
 12.59 ACTR2 ACTR3 CDC42 FYN WAS WIPF1
14
Development Slit-Robo signaling 21
Show member pathways
 12.59 ACTR2 ACTR3 CDC42 FYN NCK1 SRC
15
Cytoskeletal Signaling 4
12.57 ACTR2 ACTR3 CDC42 NCK1 WAS WASF2
16
T cell receptor signaling pathway 36
Show member pathways
 12.49 CDC42 FYN NCK1 PSTPIP1 WAS
17
Phospholipase D signaling pathway 36
Show member pathways
 12.48 FYN WAS WASF1 WASF2 WASF3 WASL
18
Endocytosis 36
12.46 CDC42 SRC WAS WASL WIPF1
19
ICos-ICosL Pathway in T-Helper Cell 60
Show member pathways
 12.44 ACTR2 ACTR3 CDC42 FYN WAS
20
Clathrin-mediated endocytosis 62
Show member pathways
 12.43 ACTR2 ACTR3 SNX9 TRIP10 WASL
21
RhoGDI Pathway 60
Show member pathways
 12.4 ACTR2 ACTR3 CDC42 WASL
22
Development VEGF signaling via VEGFR2 - generic cascades 21
Show member pathways
 12.4 CDC42 FYN NCK1 SRC
23
B cell receptor signaling pathway (KEGG) 1
Show member pathways
 12.39 BTK CDC42 FYN NCK1
24
Immune response CCR3 signaling in eosinophils 21
Show member pathways
 12.35 ACTR2 ACTR3 SRC WAS
25
EphB-EphrinB Signaling 60
Show member pathways
 12.35 ACTR2 ACTR3 CDC42 FYN NCK1 SRC
26
Signaling by Rho GTPases 62
Show member pathways
 12.33 ACTR2 ACTR3 BTK CDC42 NCK1 NCKIPSD
27
G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins 21
Show member pathways
 12.28 ACTR2 ACTR3 BTK CDC42 SRC WAS
28
Tight junction 36
12.27 ACTR2 ACTR3 CDC42 SRC WAS WASL
29
Axon guidance 36
12.25 CDC42 FYN NCK1 SRC
30
Tyrosine Kinases / Adaptors 4
12.16 BTK FYN NCK1 SRC
31
G-protein signaling RAC1 in cellular process 21
Show member pathways
 12.16 ACTR2 ACTR3 CDC42 SRC WAS WASF1
32
Brain-Derived Neurotrophic Factor (BDNF) signaling pathway 1
12.15 CDC42 FYN NCK1 SRC
33
Regulation of actin dynamics for phagocytic cup formation 62
Show member pathways
 12.1 ACTR2 ACTR3 BTK CDC42 FYN NCK1
34
Guidance Cues and Growth Cone Motility 60
12.08 ACTR2 ACTR3 CDC42 FYN NCK1 WASL
35
TCR signaling in naive CD4+ T cells 1
Show member pathways
 12.01 CDC42 FYN NCK1 WAS
36
ErbB1 downstream signaling 1
12.01 ACTR2 ACTR3 CDC42 SRC WASF2 WASL
37
EPHA forward signaling 1
Show member pathways
 11.97 CDC42 FYN SRC
38
MAP Kinase Signaling 4
11.95 CDC42 FYN SRC
39
Fc gamma R-mediated phagocytosis 36
11.95 CDC42 WAS WASF1 WASF2 WASF3 WASL
40
Antigen activates B Cell Receptor (BCR) leading to generation of second messengers 62
Show member pathways
 11.92 BTK FYN NCK1
41
Signaling events mediated by VEGFR1 and VEGFR2 1
Show member pathways
 11.92 CDC42 FYN NCK1 SRC
42
Salmonella infection (KEGG) 36
11.92 CDC42 WAS WASF1 WASF2 WASL
43
Netrin-1 signaling 62
Show member pathways
 11.85 CDC42 FYN NCK1 SRC WASL
44
Bacterial invasion of epithelial cells 36
11.81 CDC42 SRC WAS WASF1 WASF2 WASL
45
Association Between Physico-Chemical Features and Toxicity Associated Pathways 1
11.78 ACTR2 ACTR3 NCK1 SRC
46
Shigellosis 36
11.69 CDC42 SRC WAS WASF1 WASF2 WASL
47
PDGFR-beta signaling pathway 1
11.62 FYN NCK1 SRC
48
Adherens junction 36
11.62 CDC42 FYN SRC WAS WASF1 WASF2
49
Signaling events mediated by focal adhesion kinase 1
11.61 FYN SRC WASL
50
Signaling by Slit 60
11.6 ACTR2 ACTR3 CDC42 WASL
Sources

GO Terms for Wiskott-Aldrich Syndrome

About this section

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.86 ACTR2 ACTR3 CDC42 PSTPIP1 SNX9 TRIP10
2 extrinsic component of cytoplasmic side of plasma membrane GO:0031234 9.73 BTK FYN SNX9 SRC
3 cell-cell junction GO:0005911 9.72 ACTR3 CDC42 NCK1 WAS WASF2
4 ruffle GO:0001726 9.71 SNX9 WASF2 WIPF1
5 actin cytoskeleton GO:0015629 9.7 ACTR2 ACTR3 WAS WASF1 WASF2 WASL
6 actin filament GO:0005884 9.67 FYN SRC WAS WIPF1
7 Arp2/3 protein complex GO:0005885 9.52 ACTR2 ACTR3
8 SCAR complex GO:0031209 9.51 WASF1 WASF2
9 lamellipodium GO:0030027 9.5 ACTR2 ACTR3 PSTPIP1 WASF1 WASF2 WASF3
10 actin cap GO:0030478 9.49 ACTR2 WASL
11 cytoskeleton GO:0005856 9.4 ACTR2 ACTR3 CDC42 PSTPIP1 SRC TRIP10
12 cytoplasm GO:0005737 10.36 ACTR2 ACTR3 BTK CDC42 FYN NCK1
13 cytosol GO:0005829 10.28 ACTR2 ACTR3 BTK CDC42 FYN NCK1
14 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)
# Name GO ID Score Top Affiliating Genes
1 endocytosis GO:0006897 9.91 CDC42 PSTPIP1 SNX9 TRIP10 WASF2
2 membrane organization GO:0061024 9.88 ACTR2 ACTR3 SNX9 TRIP10 WASL
3 cellular response to interferon-gamma GO:0071346 9.85 ACTR2 ACTR3 CDC42 WAS
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 positive regulation of neuron projection development GO:0010976 9.82 FYN NCK1 NCKIPSD
7 T cell costimulation GO:0031295 9.81 CDC42 FYN SRC
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 filament-based movement GO:0030048 9.7 WAS WASF2 WIPF1
16 actin cytoskeleton organization GO:0030036 9.7 ACTR2 CDC42 TRIP10 WASF1 WASF2 WASF3
17 actin polymerization or depolymerization GO:0008154 9.67 WAS WASL WIPF1
18 cellular response to peptide hormone stimulus GO:0071375 9.66 FYN SRC
19 positive regulation of lamellipodium assembly GO:0010592 9.65 CDC42 WASF2
20 dendritic spine morphogenesis GO:0060997 9.65 CDC42 WASL
21 regulation of stress fiber assembly GO:0051492 9.65 CDC42 WAS
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:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.91 BTK CDC42 FYN PSTPIP1 SNX9 TRIP10
2 cadherin binding GO:0045296 9.73 NCK1 SNX9 SRC WASF2
3 protein complex binding GO:0032403 9.71 FYN SRC WASF1 WASF2
4 non-membrane spanning protein tyrosine kinase activity GO:0004715 9.5 BTK FYN SRC
5 GTPase regulator activity GO:0030695 9.46 WAS WASL
6 SH3 domain binding GO:0017124 9.46 NCKIPSD WAS WASF2 WIPF1
7 growth factor receptor binding GO:0070851 9.26 FYN SRC
8 actin binding GO:0003779 9.23 ACTR2 ACTR3 WAS WASF1 WASF2 WASF3
9 ephrin receptor binding GO:0046875 9.13 FYN NCK1 SRC
Sources

Sources for Wiskott-Aldrich Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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