WAS2
MCID: WSK002
MIFTS: 27

Wiskott-Aldrich Syndrome 2 (WAS2)

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

Aliases & Classifications for Wiskott-Aldrich Syndrome 2

MalaCards integrated aliases for Wiskott-Aldrich Syndrome 2:

Name: Wiskott-Aldrich Syndrome 2 58 76 30 13 6 74
Wipf1 Deficiency 58 76
Was2 58 76
Wiskott-Aldrich Syndrome, Type 2 41

Characteristics:

HPO:

33
wiskott-aldrich syndrome 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 614493
MeSH 45 D014923
MedGen 43 C3281001
UMLS 74 C3281001

Summaries for Wiskott-Aldrich Syndrome 2

UniProtKB/Swiss-Prot : 76 Wiskott-Aldrich syndrome 2: An immunodeficiency disorder characterized by eczema, thrombocytopenia, recurrent infections, defective T-cell proliferation, and impaired natural killer cell function.

MalaCards based summary : Wiskott-Aldrich Syndrome 2, is also known as wipf1 deficiency. An important gene associated with Wiskott-Aldrich Syndrome 2 is WIPF1 (WAS/WASL Interacting Protein Family Member 1). The drugs Mitoxantrone and leucovorin have been mentioned in the context of this disorder. Affiliated tissues include t cells, skin and kidney, and related phenotypes are thrombocytopenia and recurrent infections

Description from OMIM: 614493

Related Diseases for Wiskott-Aldrich Syndrome 2

Diseases in the Wiskott-Aldrich Syndrome family:

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

Symptoms & Phenotypes for Wiskott-Aldrich Syndrome 2

Human phenotypes related to Wiskott-Aldrich Syndrome 2:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 thrombocytopenia 33 very rare (1%) HP:0001873
2 recurrent infections 33 very rare (1%) HP:0002719
3 eczema 33 very rare (1%) HP:0000964
4 reduced natural killer cell activity 33 very rare (1%) HP:0012178
5 decreased proportion of cd8-positive t cells 33 very rare (1%) HP:0005415
6 defective t cell proliferation 33 very rare (1%) HP:0030253

Clinical features from OMIM:

614493

Drugs & Therapeutics for Wiskott-Aldrich Syndrome 2

Drugs for Wiskott-Aldrich Syndrome 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 287)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mitoxantrone Approved, Investigational Phase 4 65271-80-9 4212
2
leucovorin Approved Phase 4,Phase 3,Phase 2 58-05-9 6006 143
3
Zonisamide Approved, Investigational Phase 4 68291-97-4 5734
4
Sumatriptan Approved, Investigational Phase 4,Phase 3 103628-46-2 5358
5
Ketorolac Approved Phase 4 66635-83-4, 74103-06-3 3826
6
rituximab Approved Phase 4 174722-31-7 10201696
7
Methotrexate Approved Phase 4,Phase 3,Phase 2 1959-05-2, 59-05-2 126941
8
Sulfanilamide Approved Phase 4 63-74-1 5333
9
Furosemide Approved, Vet_approved Phase 4 54-31-9 3440
10
Morphine Approved, Investigational Phase 4,Phase 2 57-27-2 5288826
11
Primaquine Approved Phase 4 90-34-6 4908
12
Fluticasone Approved, Experimental Phase 4 90566-53-3 62924
13
Budesonide Approved Phase 4 51333-22-3 63006 5281004
14
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 22916-47-8 4189
15
Prednisone Approved, Vet_approved Phase 4,Phase 3 53-03-2 5865
16
Mycophenolic acid Approved Phase 4,Phase 2 24280-93-1 446541
17
chloroquine Approved, Investigational, Vet_approved Phase 4 54-05-7 2719
18
Aspirin Approved, Vet_approved Phase 4,Phase 3 50-78-2 2244
19
Naproxen Approved, Vet_approved Phase 4 22204-53-1 156391 1302
20
Acetaminophen Approved Phase 4 103-90-2 1983
21
Ibuprofen Approved Phase 4 15687-27-1 3672
22
Calcium Approved, Nutraceutical Phase 4,Phase 3,Not Applicable 7440-70-2 271
23
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 3 1406-16-2
24
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 5280795 6221
25
Ergocalciferol Approved, Nutraceutical Phase 4,Phase 3 50-14-6 5280793
26
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2 59-30-3 6037
27
Azosemide Investigational Phase 4 27589-33-9 2273
28
Piperaquine Experimental, Investigational Phase 4 4085-31-8 5079497
29
Dihydroartemisinin Experimental, Investigational Phase 4 71939-50-9 6918483
30 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Not Applicable
31 Topoisomerase Inhibitors Phase 4,Phase 3,Phase 1
32 Analgesics Phase 4,Phase 3,Phase 2,Not Applicable
33 Immunologic Factors Phase 4,Phase 3,Phase 2,Phase 1
34 Antimetabolites, Antineoplastic Phase 4,Phase 3,Phase 2,Phase 1
35 Immunosuppressive Agents Phase 4,Phase 3,Phase 2,Phase 1
36 Antimetabolites Phase 4,Phase 3,Phase 2,Phase 1
37 Calcium, Dietary Phase 4,Phase 3,Not Applicable
38 Micronutrients Phase 4,Phase 3
39 Ergocalciferols Phase 4,Phase 3
40 Vitamin D2 Phase 4,Phase 3
41 Calciferol Phase 4,Phase 3
42 Bone Density Conservation Agents Phase 4,Phase 3
43 Hormones Phase 4,Phase 3,Phase 2,Not Applicable
44 Nutrients Phase 4,Phase 3
45 Trace Elements Phase 4,Phase 3
46 Vitamins Phase 4,Phase 3
47 Ibandronic Acid Phase 4,Phase 3
48 Anticonvulsants Phase 4,Not Applicable
49 calcium channel blockers Phase 4,Not Applicable
50 Vasoconstrictor Agents Phase 4,Phase 3

Interventional clinical trials:

(show top 50) (show all 102)
# Name Status NCT ID Phase Drugs
1 Efficacy and Safety of Mitoxantrone in Patients With Refractory Neuromyelitis Optica and Spectrum Disorders Unknown status NCT02021825 Phase 4 Mitoxantrone
2 Vitamin D Supplementation and Respiratory Index of Severity in Children (RISC) in Pneumonia Completed NCT02936895 Phase 4 Vitamin D3;Placebo
3 A Study of Bonviva (Ibandronate) in Women With Post-Menopausal Osteoporosis Who Have Received Previous Bonviva Treatment Completed NCT00551174 Phase 4 ibandronate [Bonviva/Boniva];ibandronate [Bonviva/Boniva]
4 Low and High Dose Zonisamide in Children as Monotherapy Completed NCT01127165 Phase 4 zonisamide low dose group;zonisamide high dose group
5 Comparison of Ketorolac Nasal Spray to Sumatriptan Nasal Spray and Placebo for Acute Treatment of Migraine Completed NCT01807234 Phase 4 Ketorolac;Sumatriptan;Placebo
6 An Exploratory Study of the Safety and Efficacy of Prophylactic Immunomodulatory Treatment in Myozyme-naive Cross-Reacting Immunologic Material (CRIM[-]) Patients With Infantile-Onset Pompe Disease Completed NCT00701129 Phase 4 Methotrexate;Rituximab
7 Comparison of Long- and Short-acting Diuretics in Congestive Heart Failure Completed NCT00355667 Phase 4 furosemide;azosemide
8 Impact of Dihydroartemisinin-piperaquine Plus Primaquine on Malaria Transmission in Lampung Province, Sumatra Completed NCT01389557 Phase 4 Dihydroartemisinin-piperaquine with primaquine
9 Real Life Effectiveness in Patients With Not Optimally Controlled Asthma Completed NCT01647646 Phase 4 Seretide
10 Evaluation of the Therapeutic Benefit of an Initial Intensified Dosing Regimen of Mycophenolate Sodium Versus a Standard Regimen in Renal Transplant Patients Completed NCT00419926 Phase 4 Enteric-coated mycophenolate sodium (Myfortic);Cyclosporine (Neoral);Prednisone
11 Assessment of Plasmodium Vivax Chloroquine Resistance in Cambodia: Completed NCT02118090 Phase 4 Chloroquine sulfate;DHA-PP
12 Dihydroartemisinin-piperaquine and Primaquine for Uncomplicated Plasmodium Falciparum Cases Completed NCT01392014 Phase 4 dihydroartemisinin-piperaquine;dihydroartemisinin-piperaquine + primaquine
13 Japanese Treat and Extend Study of Aflibercept in Neovascular Age-related Macular Degeneration Completed NCT02305238 Phase 4 Aflibercept (Eylea, VEGF Trap-Eye, BAY86-5321)
14 A Study Evaluating Glycosphingolipid Clearance in Patients Treated With Agalsidase Alfa Who Switch to Agalsidase Beta Completed NCT01650779 Phase 4
15 A Study of Once Monthly Intravenous Mircera for the Maintenance Treatment of Dialysis Patients With Chronic Renal Anemia. Completed NCT00737464 Phase 4 methoxy polyethylene glycol-epoetin beta [Mircera]
16 Radiofrequency Ablation: Treatment for Posterior Element Pain From Vertebral Compression Fractures Recruiting NCT03651804 Phase 4 Non-steroidal anti-inflammatory drugs;Bisphosphonates;Acetaminophen;Opioids
17 Controlled Trial With Deep Brain Stimulation in Patients With Early Parkinson's Disease Active, not recruiting NCT00354133 Phase 4 Best Medical Treatment
18 Safety and Efficacy of Hypothermia to Treat Neonatal Hypoxic-Ischemic Encephalopathy Completed NCT00890409 Phase 3
19 Eletriptan for the Treatment of Migraine in Patients With Previous Poor Response or Tolerance to Oral Sumatriptan Completed NCT01989936 Phase 3 Placebo;Eletriptan 40 mg;Eletriptan 80 mg
20 A Study to Compare Subcutaneous Versus Intravenous Administration of RoActemra/Actemra (Tocilizumab) in Participants With Moderate to Severe Active Rheumatoid Arthritis Completed NCT01194414 Phase 3 tocilizumab SC;tocilizumab IV;placebo to tocilizumab SC;placebo to tocilizumab IV;Disease-modifying antirheumatic drugs (DMARDs)
21 A Comparison of the Analgesic Efficacy and Safety of Once Daily Tramadol OAD Tablets to Twice Daily Tramadol BID for the Treatment of Osteoarthritis of the Knee (Extension Protocol) and Open Label Safety Follow-Up Completed NCT00912015 Phase 3 Tramadol OAD;Tramadol OAD;Tramadol OAD;Tramadol OAD 100mg
22 Paricalcitol and Endothelial Function in Chronic Kidney Disease Patients (the PENNY Study) Completed NCT01680198 Phase 3 Paracalcitol;placebo
23 Bosentan in Children With Pulmonary Arterial Hypertension Completed NCT00319267 Phase 3 Bosentan
24 To Evaluate Sarilumab - SAR153191 (REGN88) - Auto-injector Device In Patients With Rheumatoid Arthritis Completed NCT02057250 Phase 3 Sarilumab;Methotrexate;Sulfasalazine;Leflunomide;Hydroxychloroquine
25 Effectiveness of Graded Motor Imagery to Improve Hand Function in Patients With Distal Radius Fracture Completed NCT02838446 Phase 2, Phase 3
26 Duration of Skin Numbing Effect Created by the S-Caine™ Peel Completed NCT00110253 Phase 3 S-Caine™ Peel (lidocaine and tetracaine cream 7%/7%)
27 Safety and Efficacy Study of FS 4 IU VH S/D (Fibrin Sealant With 4IU/mL Thrombin, Vapor Heated, Solvent/Detergent Treated) to Adhere Split Thickness Skin Grafts and Improve Wound Healing in Burn Patients Completed NCT00157131 Phase 3
28 Clinical Study for the Evaluation of the Depigmenting Activity of a Cosmetic Product on Spotted Hand Skin Completed NCT02204436 Phase 3
29 Combination Chemotherapy With or Without Bevacizumab in Treating Patients Who Have Undergone Surgery for High Risk Stage II or Stage III Colon Cancer Completed NCT00112918 Phase 3 Capecitabine;5-Fluorouracil (5-FU);Leucovorin calcium;Oxaliplatin
30 A Study of Tocilizumab + DMARDs in Patients With Moderate to Severe Active Rheumatoid Arthritis Completed NCT00951275 Phase 3 tocilizumab [RoActemra/Actemra];Standard DMARDs (Disease Modifying Anti Rheumatic Drugs)
31 A Study to Compare MPR With MP in Newly Diagnosed Multiple Myeloma Subjects 65 Years Old or Older. Completed NCT00405756 Phase 3 Lenalidomide: Double-blind Induction;Melphalan;Prednisone;Aspirin;Placebo;Lenalidomide: Double-blind Maintenance;Lenalidomide: Open-label
32 Global Study Looking at the Combination of RAD001 Plus Best Supportive Care (BSC) and Placebo Plus BSC to Treat Patients With Advanced Hepatocellular Carcinoma. Completed NCT01035229 Phase 3 Everolimus;Everolimus Placebo
33 MOBILE Study - A Study of Bonviva (Ibandronate) Regimens in Women With Post-Menopausal Osteoporosis Completed NCT00048061 Phase 3 Ibandronate [Bonviva/Boniva];Ibandronate [Bonviva/Boniva];Ibandronate [Bonviva/Boniva];Ibandronate [Bonviva/Boniva]
34 Efficacy and Tolerance Evaluation of a Topical "Revitalizing" Face Day Cream Completed NCT02230397 Phase 3
35 Postoperative Hepatic Arterial Chemotherapy in High-risk Patients as Adjuvant Treatment After Resection of Colorectal Liver Metastases Recruiting NCT02494973 Phase 2, Phase 3 Oxaliplatin HAI;Oxaliplatin IV;mFOLFOX6;LV5FU2
36 A Randomized Study of Post-Remission Therapy in Elderly Patients With Acute Myelogenous Leukemia. Terminated NCT00363025 Phase 3 Idarubicin versus daunorubicin
37 Persistent Pulmonary Hypertension of the Newborn Terminated NCT01389856 Phase 3 Bosentan;Matching placebo
38 A Study of Sorafenib in Patients With Chemonaive Metastatic Uveal Melanoma Unknown status NCT01377025 Phase 2 Placebo;Sorafenib;Sorafenib
39 RFA Combined With Oxaliplatin + 5-FluoroUracil/LeucoVorin (5-FU/LV) (FOLFOX4) for Recurrent HCC Unknown status NCT02426450 Phase 2 Oxaliplatin;5-Fluorouracil/Leucovorin
40 HR Combined With FOLFOX4 for HCC With PVTT Unknown status NCT02452853 Phase 2 FOLFOX4
41 Phase 2 Study of Tapentadol Prolonged Release in Cancer Pain Participants Completed NCT00805142 Phase 2 Tapentadol PR
42 Reduced-Intensity Regimen Before Donor Bone Marrow Transplant in Treating Patients With Myelodysplastic Syndromes Completed NCT00045305 Phase 2 Cyclosporine;Methotrexate;Photopheresis;Mycofenolate mofetil;Pentostatin
43 Use of Immune Globulin Intravenous (Human) To Treat Age-Related Macular Degeneration Completed NCT00220805 Phase 2 Immune Globulin Intravenous [Human], 10% Caprylate/Chromatography Purified;Albumin (Human) 25%, United States Pharmacopeia (USP)
44 Neuroprotection Impact of Cyclosporin A in Cerebral Infarction Completed NCT01527240 Phase 2 Ciclosprin A;Injectable Saline Solution.
45 Post Stroke Hand Functions: Bilateral Movements and Electrical Stimulation Treatments Completed NCT00369668 Phase 2
46 Pharmacological Treatment of Rett Syndrome With Glatiramer Acetate (Copaxone) Completed NCT02153723 Phase 2 Glatiramer Acetate
47 Radiation Therapy and Combination Chemotherapy in Treating Patients With Stage III or Stage IV Head and Neck Cancer Completed NCT00002774 Phase 2 Tirapazamine;Cisplatin;5-fluorouracil
48 Dose-Ranging Study Of Tofacitinib In Adults With Active Ankylosing Spondylitis Completed NCT01786668 Phase 2 Tofacitinib 2 mg;Tofacitinib 5 mg;Tofacitinib 10 mg;Placebo
49 Vaccine Therapy in Patients With Stage II, III, or IV Epithelial Ovarian, Fallopian Tube, or Peritoneal Cancer Completed NCT00112957 Phase 2
50 Nivolumab for Recurrent or Progressive IDH Mutant Gliomas Recruiting NCT03557359 Phase 2 Nivolumab

Search NIH Clinical Center for Wiskott-Aldrich Syndrome 2

Genetic Tests for Wiskott-Aldrich Syndrome 2

Genetic tests related to Wiskott-Aldrich Syndrome 2:

# Genetic test Affiliating Genes
1 Wiskott-Aldrich Syndrome 2 30 WIPF1

Anatomical Context for Wiskott-Aldrich Syndrome 2

MalaCards organs/tissues related to Wiskott-Aldrich Syndrome 2:

42
T Cells, Skin, Kidney, Bone, Brain, Eye, Bone Marrow

Publications for Wiskott-Aldrich Syndrome 2

Variations for Wiskott-Aldrich Syndrome 2

ClinVar genetic disease variations for Wiskott-Aldrich Syndrome 2:

6 (show all 31)
# Gene Variation Type Significance SNP ID Assembly Location
1 WIPF1 WIPF1, SER434TER single nucleotide variant Pathogenic
2 WIPF1 NM_001077269.1(WIPF1): c.1446C> T (p.Asn482=) single nucleotide variant Benign/Likely benign rs116757787 GRCh37 Chromosome 2, 175431808: 175431808
3 WIPF1 NM_001077269.1(WIPF1): c.1446C> T (p.Asn482=) single nucleotide variant Benign/Likely benign rs116757787 GRCh38 Chromosome 2, 174567080: 174567080
4 WIPF1 NM_001077269.1(WIPF1): c.1413G> A (p.Thr471=) single nucleotide variant Benign rs149092210 GRCh38 Chromosome 2, 174567113: 174567113
5 WIPF1 NM_001077269.1(WIPF1): c.1413G> A (p.Thr471=) single nucleotide variant Benign rs149092210 GRCh37 Chromosome 2, 175431841: 175431841
6 WIPF1 NM_001077269.1(WIPF1): c.78T> C (p.Asn26=) single nucleotide variant Benign rs35923393 GRCh38 Chromosome 2, 174581413: 174581413
7 WIPF1 NM_001077269.1(WIPF1): c.78T> C (p.Asn26=) single nucleotide variant Benign rs35923393 GRCh37 Chromosome 2, 175446141: 175446141
8 WIPF1 NM_001077269.1(WIPF1): c.339C> G (p.Ser113=) single nucleotide variant Benign rs76308107 GRCh38 Chromosome 2, 174575223: 174575223
9 WIPF1 NM_001077269.1(WIPF1): c.339C> G (p.Ser113=) single nucleotide variant Benign rs76308107 GRCh37 Chromosome 2, 175439951: 175439951
10 WIPF1 NM_001077269.1(WIPF1): c.1037C> T (p.Pro346Leu) single nucleotide variant Uncertain significance rs149434153 GRCh37 Chromosome 2, 175436496: 175436496
11 WIPF1 NM_001077269.1(WIPF1): c.1037C> T (p.Pro346Leu) single nucleotide variant Uncertain significance rs149434153 GRCh38 Chromosome 2, 174571768: 174571768
12 WIPF1 NM_001077269.1(WIPF1): c.42G> A (p.Thr14=) single nucleotide variant Benign rs111761533 GRCh37 Chromosome 2, 175450260: 175450260
13 WIPF1 NM_001077269.1(WIPF1): c.42G> A (p.Thr14=) single nucleotide variant Benign rs111761533 GRCh38 Chromosome 2, 174585532: 174585532
14 WIPF1 NM_001077269.1(WIPF1): c.1380C> T (p.Ser460=) single nucleotide variant Likely benign rs753915750 GRCh37 Chromosome 2, 175431874: 175431874
15 WIPF1 NM_001077269.1(WIPF1): c.1380C> T (p.Ser460=) single nucleotide variant Likely benign rs753915750 GRCh38 Chromosome 2, 174567146: 174567146
16 WIPF1 NM_001077269.1(WIPF1): c.1085G> A (p.Ser362Asn) single nucleotide variant Uncertain significance rs779795011 GRCh37 Chromosome 2, 175436448: 175436448
17 WIPF1 NM_001077269.1(WIPF1): c.1085G> A (p.Ser362Asn) single nucleotide variant Uncertain significance rs779795011 GRCh38 Chromosome 2, 174571720: 174571720
18 WIPF1 NM_001077269.1(WIPF1): c.1084A> G (p.Ser362Gly) single nucleotide variant Uncertain significance rs147847123 GRCh38 Chromosome 2, 174571721: 174571721
19 WIPF1 NM_001077269.1(WIPF1): c.1084A> G (p.Ser362Gly) single nucleotide variant Uncertain significance rs147847123 GRCh37 Chromosome 2, 175436449: 175436449
20 WIPF1 NM_001077269.1(WIPF1): c.860_862dup (p.Pro287_Gln288insPro) duplication Likely benign rs556678311 GRCh38 Chromosome 2, 174571943: 174571945
21 WIPF1 NM_001077269.1(WIPF1): c.860_862dup (p.Pro287_Gln288insPro) duplication Likely benign rs556678311 GRCh37 Chromosome 2, 175436671: 175436673
22 WIPF1 NM_001077269.1(WIPF1): c.1296A> G (p.Pro432=) single nucleotide variant Benign rs76731102 GRCh37 Chromosome 2, 175432635: 175432635
23 WIPF1 NM_001077269.1(WIPF1): c.1296A> G (p.Pro432=) single nucleotide variant Benign rs76731102 GRCh38 Chromosome 2, 174567907: 174567907
24 WIPF1 NM_001077269.1(WIPF1): c.936T> G (p.Pro312=) single nucleotide variant Likely benign rs1040586347 GRCh37 Chromosome 2, 175436597: 175436597
25 WIPF1 NM_001077269.1(WIPF1): c.936T> G (p.Pro312=) single nucleotide variant Likely benign rs1040586347 GRCh38 Chromosome 2, 174571869: 174571869
26 WIPF1 NM_001077269.1(WIPF1): c.235G> A (p.Gly79Arg) single nucleotide variant Uncertain significance rs531744802 GRCh37 Chromosome 2, 175440055: 175440055
27 WIPF1 NM_001077269.1(WIPF1): c.235G> A (p.Gly79Arg) single nucleotide variant Uncertain significance rs531744802 GRCh38 Chromosome 2, 174575327: 174575327
28 WIPF1 NM_001077269.1(WIPF1): c.860C> T (p.Pro287Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 174571945: 174571945
29 WIPF1 NM_001077269.1(WIPF1): c.860C> T (p.Pro287Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 175436673: 175436673
30 WIPF1 NM_001077269.1(WIPF1): c.100A> G (p.Asn34Asp) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 174581391: 174581391
31 WIPF1 NM_001077269.1(WIPF1): c.100A> G (p.Asn34Asp) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 175446119: 175446119

Expression for Wiskott-Aldrich Syndrome 2

Search GEO for disease gene expression data for Wiskott-Aldrich Syndrome 2.

Pathways for Wiskott-Aldrich Syndrome 2

GO Terms for Wiskott-Aldrich Syndrome 2

Sources for Wiskott-Aldrich Syndrome 2

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