WT1
MCID: WLM013
MIFTS: 65

Wilms Tumor 1 (WT1)

Categories: Cancer diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Wilms Tumor 1

MalaCards integrated aliases for Wilms Tumor 1:

Name: Wilms Tumor 1 57 75 29 6
Nephroblastoma 57 12 53 59 29 6 15 73
Wilms Tumor 57 59 44 15
Wilms' Tumor 12 76 53
Wt1 57 53 75
Bilateral Wilms Tumor 53 73
Renal Wilms' Tumor 12 15
Nonanaplastic Renal Wilm's Tumor 12
Nonanaplastic Kidney Wilms Tumor 73
Nonanaplastic Renal Wilms Tumor 12
Childhood Renal Wilms' Cancer 12
Childhood Kidney Wilms Tumor 73
Childhood Renal Wilms Tumor 12
Adult Renal Wilms' Tumor 12
Adult Kidney Wilms Tumor 73
Renal Embryonic Tumor 59
Wilms Tumor, Somatic 57
Adult Nephroblastoma 12
Wilms Tumor, Type 1 57
Renal Wilms Tumor 12
Wilms Tumor-1 13

Characteristics:

Orphanet epidemiological data:

59
nephroblastoma
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/1000000 (Europe),1-9/100000 (Europe),1-9/1000000 (United Kingdom),1-5/10000 (Europe); Age of onset: Childhood; Age of death: any age;

OMIM:

57
Inheritance:
autosomal dominant
somatic mutation

Miscellaneous:
genetic heterogeneity
majority of wilms tumors are sporadic
onset between 2-5 years
rare adult cases reported
5-10% of all wilms tumor are bilateral
21% of hereditary wilms tumor are bilateral
associated with several congenital malformation syndromes (wagr , abnormal urogenital development syndromes)
two-step mutation hypothesis (germline mutation followed by somatic mutation or two sequential somatic mutations)
loss of tumor suppressor gene
associated with several loci on chromosomes 11p15 (wt2, ), 16 (wt3, ), 17 (wt4, ), and 7 (wt5, ).



Classifications:

Orphanet: 59  
Rare renal diseases


External Ids:

OMIM 57 194070
Disease Ontology 12 DOID:2154 DOID:5176
MeSH 44 D009396
SNOMED-CT 68 25081006 31470003
Orphanet 59 ORPHA654
MESH via Orphanet 45 D009396
UMLS via Orphanet 74 C0027708
ICD10 via Orphanet 34 C64
MedGen 42 C0027708

Summaries for Wilms Tumor 1

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 654Disease definitionNephroblastoma is the most frequent malignant renal tumor in children and is associated with an abnormal proliferation of cells that resemble the kidney cells of an embryo (metanephroma), leading to the term embryonal tumor.EpidemiologyThe annual incidence is estimated at about 1/10,000 births and it affects boys as well as girls.Clinical descriptionNephroblastoma mainly affects young children, between the ages 1 and 5 years, but 15% of nephroblastomas occur before the age of 1 year and 2% after the age of 8 years. Adult forms are very rare. An abdominal mass (unilateral in most cases) is frequently present. Patients sometimes experience abdominal pain (around 10% of cases), hypertension, fever (20% of cases), hematuria and anemia. The evolution of the disease is very rapid, with regional dissemination in the retroperitoneal space, lymph nodes, vessels (renal vein and inferior vena cava) and in the peritoneal cavity in cases of tumor effraction, and a strong likelihood of metastases in the lungs and liver.EtiologyNephroblastoma is sporadic in 99% of cases and, among these cases, 10% are associated with congenital anomalies (aniridia, hemihypertrophy, genitourinary defects) or form part of specific syndromes (Beckwith-Wiedemann, Denys-Drash, WAGR or Perlman syndromes; see these terms). Genetic anomalies found in different chromosomal regions, including 11p13 (containing the WT1 gene), 11p15.5 (containing the H19 gene), 16q, 1p, 1q and 17p, have been found within the tumors. Familial forms are very rare (1% of cases) and are transmitted in an autosomal dominant fashion.Diagnostic methodsDiagnosis is based on imagery, particularly CT or MRI scans. The concentration of urinary metabolites of catecholamines is normal. Analysis of the extent of the disease is also conducted using imagery (ultrasound and abdominal CT analyzing particularly the liver and contralateral kidney, and thoracic radiography and CT).Differential diagnosisDifferential diagnoses include other renal tumors in children such as mesoblastic nephroma (especially in infants), clear cell sarcoma, neuroblastoma (extremely rare in the kidney but may invade the kidney by contiguity), rhabdoid tumors (see these terms) and metanephric stromal tumors.Management and treatmentDisease management is multidisciplinary and may involve chemotherapy and surgery with or without radiotherapy. Chemotherapy enables preoperative reduction in tumor size and eradicates metastases. Surgery should be accomplished without tumor effraction, which usually means that total nephrectomy is required. Nephroblastoma can be confirmed on microscopic examination, which also allows the stage of the tumor in the kidney to be evaluated. This in turn determines the choice of post-operative chemotherapy. Radiotherapy is reserved for the most extensive cases or cases with the least favorable histology.PrognosisIn the majority of cases, the prognosis is favorable with a survival rate of over 90%. Adult forms have the same prognosis and should be treated following the same methods, even when adult patients tolerate chemotherapy less well than children (which may lead to a reduction in treatment and as a result a worse prognosis).Visit the Orphanet disease page for more resources.

MalaCards based summary : Wilms Tumor 1, also known as nephroblastoma, is related to meacham syndrome and wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome, and has symptoms including abdominal pain An important gene associated with Wilms Tumor 1 is WT1 (Wilms Tumor 1), and among its related pathways/superpathways are Proteoglycans in cancer and Glioblastoma Multiforme. The drugs Itraconazole and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include kidney, myeloid and lung, and related phenotypes are hypertension and fever

Disease Ontology : 12 A kidney cancer that affects the kidneys and typically located in children.

Genetics Home Reference : 25 Wilms tumor is a form of kidney cancer that primarily develops in children. Nearly all cases of Wilms tumor are diagnosed before the age of 10, with two-thirds being found before age 5.

OMIM : 57 Wilms tumor is the most common renal tumor of childhood, occurring with an incidence of 1 in 10,000 and with a median age of diagnosis between 3 and 4 years of age. Wilms tumours are thought to develop from abnormally persistent embryonal cells within nephrogenic rests. Histologically, Wilms tumor mirrors the development of the normal kidney and classically consists of 3 cell types: blastema, epithelia, and stroma (summary by Slade et al., 2010). (194070)

UniProtKB/Swiss-Prot : 75 Wilms tumor 1: Embryonal malignancy of the kidney that affects approximately 1 in 10'000 infants and young children. It occurs both in sporadic and hereditary forms.

Wikipedia : 76 Wilms'' tumor, also known as nephroblastoma, is a cancer of the kidneys that typically occurs in... more...

Related Diseases for Wilms Tumor 1

Diseases in the Hereditary Wilms' Tumor family:

Wilms Tumor 1 Wilms Tumor 2
Wilms Tumor 3 Wilms Tumor 4
Wilms Tumor 5 Wilms Tumor 6
Familial Wilms Tumor 2

Diseases related to Wilms Tumor 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 467)
# Related Disease Score Top Affiliating Genes
1 meacham syndrome 32.8 WT1 WT1-AS
2 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 32.7 IGF2 WT1 WT1-AS
3 simpson-golabi-behmel syndrome 32.2 CTNNB1 GPC3 GPC4
4 hemihyperplasia, isolated 31.8 H19 IGF2 WT1
5 wilson-turner x-linked mental retardation syndrome 31.8 IGF2 WT1 WT1-AS
6 beckwith-wiedemann syndrome 31.8 GPC3 H19 IGF2 IGF2-AS WT1
7 female reproductive endometrioid cancer 31.7 CTNNB1 WT1
8 hepatoblastoma 30.6 CTNNB1 GPC3 H19 IGF2
9 hepatocellular carcinoma 30.3 CTNNB1 GPC3 H19 IGF2 IGF2-AS MEG3
10 adrenocortical carcinoma, hereditary 30.3 CHEK2 CTNNB1 H19 IGF2
11 wilms tumor 2 30.1 H19 KCNQ1DN
12 prostate cancer 30.1 BRCA2 CHEK2 CTNNB1 H19 IGF2 IGF2-AS
13 silver-russell syndrome 30.1 H19 IGF2 MEG3
14 osteogenic sarcoma 29.8 CHEK2 H19 MEG3
15 cervical wilms' tumor 12.4
16 wilms tumor and radial bilateral aplasia 12.3
17 wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome 12.2
18 wilms tumor predisposition 12.2
19 wilms tumor 3 12.2
20 mixed cell type kidney wilms' tumor 12.2
21 blastema predominant kidney wilms' tumor 12.2
22 stromal predominant kidney wilms' tumor 12.2
23 metachronous kidney wilms' tumor 12.1
24 global developmental delay-lung cysts-overgrowth-wilms tumor syndrome 12.1
25 nephrotic syndrome, type 4 11.9
26 hereditary wilms' tumor 11.6
27 mulibrey nanism 11.5
28 focal segmental glomerulosclerosis 11.5
29 diffuse mesangial sclerosis 11.5
30 ewing sarcoma 11.4
31 kidney disease 11.4
32 aniridia 1 11.3
33 pseudohermaphroditism 11.3
34 clear cell sarcoma 11.3
35 congenital mesoblastic nephroma 11.3
36 wilms tumor 4 11.3
37 gonadal dysgenesis 11.3
38 gonadoblastoma 11.3
39 diaphragmatic hernia, congenital 11.3
40 sertoli cell tumor 11.3
41 premature ovarian failure 1 11.3
42 crescentic glomerulonephritis 11.3
43 peritoneal mesothelioma 11.3
44 dysgerminoma 11.3
45 childhood multilocular cystic kidney neoplasm 11.2
46 mosaic variegated aneuploidy syndrome 1 11.2
47 mosaic variegated aneuploidy syndrome 3 11.2
48 46 xy gonadal dysgenesis 11.2
49 hypereosinophilic syndrome, idiopathic 11.2
50 familial nephrotic syndrome 11.2

Graphical network of the top 20 diseases related to Wilms Tumor 1:



Diseases related to Wilms Tumor 1

Symptoms & Phenotypes for Wilms Tumor 1

Symptoms via clinical synopsis from OMIM:

57
Genitourinary Kidneys:
nephroblastoma

Neoplasia:
nephroblastoma


Clinical features from OMIM:

194070

Human phenotypes related to Wilms Tumor 1:

59 32 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertension 59 32 occasional (7.5%) Occasional (29-5%) HP:0000822
2 fever 59 32 occasional (7.5%) Occasional (29-5%) HP:0001945
3 abdominal pain 59 32 hallmark (90%) Very frequent (99-80%) HP:0002027
4 weight loss 59 32 occasional (7.5%) Occasional (29-5%) HP:0001824
5 hematuria 59 32 occasional (7.5%) Occasional (29-5%) HP:0000790
6 neoplasm of the lung 59 32 occasional (7.5%) Occasional (29-5%) HP:0100526
7 lymphadenopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0002716
8 nephroblastoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0002667
9 aniridia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000526
10 neoplasm of the liver 59 32 occasional (7.5%) Occasional (29-5%) HP:0002896
11 neoplasm 59 Very frequent (99-80%)

UMLS symptoms related to Wilms Tumor 1:


abdominal pain

MGI Mouse Phenotypes related to Wilms Tumor 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.56 BRCA2 CTNNB1 FZD6 GPC3 IGF2 TRIM28
2 limbs/digits/tail MP:0005371 9.1 BRCA2 CTNNB1 FZD6 GPC3 IGF2 TRIP13

Drugs & Therapeutics for Wilms Tumor 1

Drugs for Wilms Tumor 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 287)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Itraconazole Approved, Investigational Phase 4,Phase 3,Not Applicable 84625-61-6 55283
2
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 22916-47-8 4189
3 Cytochrome P-450 CYP3A Inhibitors Phase 4,Phase 3,Phase 2,Not Applicable
4 Cytochrome P-450 Enzyme Inhibitors Phase 4,Phase 3,Phase 2,Not Applicable
5 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
6 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
7 Steroid Synthesis Inhibitors Phase 4,Phase 3,Phase 2,Not Applicable
8
Hydroxyitraconazole Phase 4,Phase 3,Not Applicable
9 Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
10 Hormones Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
11 Antifungal Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
12
Vincristine Approved, Investigational Phase 3,Phase 2,Phase 1 57-22-7, 2068-78-2 5978
13
Dactinomycin Approved, Investigational Phase 3,Phase 2 50-76-0 457193 2019
14
Carboplatin Approved Phase 3,Phase 2,Phase 1 41575-94-4 10339178 38904 498142
15
Cyclophosphamide Approved, Investigational Phase 3,Phase 2,Phase 1,Early Phase 1 6055-19-2, 50-18-0 2907
16
Doxorubicin Approved, Investigational Phase 3,Phase 2,Phase 1 23214-92-8 31703
17
Etoposide Approved Phase 3,Phase 2,Phase 1 33419-42-0 36462
18
Azacitidine Approved, Investigational Phase 2, Phase 3,Phase 1 320-67-2 9444
19
Decitabine Approved, Investigational Phase 2, Phase 3,Phase 1 2353-33-5 451668
20
Lenograstim Approved, Investigational Phase 3,Phase 2,Phase 1 135968-09-1
21
Morphine Approved, Investigational Phase 3 57-27-2 5288826
22
Cytarabine Approved, Investigational Phase 2, Phase 3,Phase 3,Phase 1 147-94-4 6253
23
Idarubicin Approved Phase 2, Phase 3,Phase 3 58957-92-9 42890
24
Daunorubicin Approved Phase 3,Phase 2,Phase 1 20830-81-3 30323
25
Trimethoprim Approved, Vet_approved Phase 3 738-70-5 5578
26
Sulfamethoxazole Approved Phase 3 723-46-6 5329
27
Fludarabine Approved Phase 2, Phase 3,Phase 3,Phase 1 75607-67-9, 21679-14-1 30751
28
Mycophenolic acid Approved Phase 3 24280-93-1 446541
29
Captopril Approved Phase 3 62571-86-2 44093
30
Ribavirin Approved Phase 3 36791-04-5 37542
31
Palivizumab Approved, Investigational Phase 3 188039-54-5
32
Fluconazole Approved, Investigational Phase 3 86386-73-4 3365
33
Caspofungin Approved Phase 3,Not Applicable 179463-17-3, 162808-62-0 468682 2826718
34
Amphotericin B Approved, Investigational Phase 3 1397-89-3 5280965 14956
35
Acyclovir Approved Phase 3 59277-89-3 2022
36
Histamine Approved, Investigational Phase 3,Phase 1,Phase 2 51-45-6, 75614-87-8 774
37
Cyproheptadine Approved Phase 3 129-03-3 2913
38
Glutamic Acid Approved, Nutraceutical Phase 3 56-86-0 33032
39
Doxil Approved June 1999 Phase 3,Phase 2,Phase 1 31703
40 Antimitotic Agents Phase 3,Phase 2,Phase 1
41 Antineoplastic Agents, Phytogenic Phase 3,Phase 2,Phase 1
42 Antibiotics, Antitubercular Phase 3,Phase 2,Phase 1
43 Anti-Bacterial Agents Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable
44 Nucleic Acid Synthesis Inhibitors Phase 3,Phase 2
45 Immunologic Factors Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
46 Antineoplastic Agents, Alkylating Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
47 Etoposide phosphate Phase 3,Phase 2,Phase 1
48 Alkylating Agents Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
49 Antirheumatic Agents Phase 3,Phase 2,Phase 1,Early Phase 1
50 Topoisomerase Inhibitors Phase 3,Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 262)
# Name Status NCT ID Phase Drugs
1 Efficacy of Prophylactic Itraconazole in High-Dose Chemotherapy and Autologous Hematopoietic Stem Cell Transplantation Completed NCT00336531 Phase 4 itraconazole
2 Chemotherapy Plus Surgery in Treating Children at Risk of or With Stage I Wilms' Tumor Unknown status NCT00003804 Phase 3 vincristine sulfate
3 Chemotherapy Before and After Surgery in Treating Children With Wilm's Tumor Unknown status NCT00047138 Phase 3 carboplatin;cyclophosphamide;doxorubicin hydrochloride;etoposide;vincristine sulfate
4 Decitabine Augments for Post Allogeneic Stem Cell Transplantation in Patients With Acute Myeloid Leukemia and Myelodysplastic Syndrome Unknown status NCT01809392 Phase 2, Phase 3 decitabine
5 Safety and Efficacy Study of Microtransplantation to Treat Elderly Acute Myeloid Leukemia Unknown status NCT02171117 Phase 3
6 WT1 for the Detection of Minimal Residual Disease Completed NCT00179829 Phase 2, Phase 3
7 Combination Chemotherapy With or Without Radiation Therapy in Treating Young Patients With Newly Diagnosed Stage III or Stage IV Wilms' Tumor Completed NCT00379340 Phase 3 doxorubicin hydrochloride;liposomal vincristine sulfate;cyclophosphamide;etoposide
8 Vincristine, Dactinomycin, and Doxorubicin With or Without Radiation Therapy or Observation Only in Treating Younger Patients Who Are Undergoing Surgery for Newly Diagnosed Stage I, Stage II, or Stage III Wilms' Tumor Completed NCT00352534 Phase 3 vincristine sulfate;doxorubicin hydrochloride
9 Combination Chemotherapy and Surgery in Treating Young Patients With Wilms Tumor Completed NCT00945009 Phase 3 Doxorubicin Hydrochloride;Vincristine Sulfate
10 Chemotherapy With or Without Surgery, Radiation Therapy, or Stem Cell Transplantation in Treating Young Patients With Kidney Tumors Completed NCT00002610 Phase 3 carboplatin;cyclophosphamide;doxorubicin hydrochloride;etoposide;vincristine sulfate
11 Combination Chemotherapy Alone or With Radiation Therapy in Treating Children With Kidney Cancer Completed NCT00002611 Phase 3 cyclophosphamide;doxorubicin hydrochloride;etoposide;vincristine sulfate
12 Glutamic Acid in Reducing Nerve Damage Caused by Vincristine in Young Patients With Cancer Completed NCT00369564 Phase 3 glutamic acid
13 Induction, Consolidation and Intensification Therapy for Patients Younger Than 66 Years With Previously Untreated CD33 Positive Acute Myeloid Leukemia (AML) Completed NCT00909168 Phase 2, Phase 3 FLAIMy - Fluda, Ida, Ara-C, Mylotarg
14 Efficacy of Gemtuzumab Ozogamycin for Patients Presenting an Acute Myeloid Leukemia (AML) With Intermediate Risk Completed NCT00860639 Phase 3 gemtuzumab ozogamycin
15 Supersaturated Calcium Phosphate Rinse in Preventing Oral Mucositis in Young Patients Undergoing Autologous or Donor Stem Cell Transplant Completed NCT01305200 Phase 3 supersaturated calcium phosphate rinse
16 HLA-mismatched MST vs HLA-matched NST for AML in Intermediate-risk Completed NCT02461121 Phase 3 cyclosporine A;Mycophenolate mofetil;Ara-C;fludarabine;anti-lymphocyte globulin;cyclophosphamide
17 Music Therapy or Book Discussion in Improving Quality of Life in Young Patients Undergoing Stem Cell Transplant Completed NCT00305851 Phase 3
18 Captopril in Treating Patients Undergoing Bone Marrow or Stem Cell Transplantation Completed NCT00004230 Phase 3 captopril;cyclophosphamide
19 Ribavirin With or Without Monoclonal Antibody Therapy in Treating Patients Who Develop RSV Pneumonia Following Peripheral Stem Cell Transplantation Completed NCT00014391 Phase 3 ribavirin
20 Itraconazole Compared With Fluconazole to Prevent Infections in Patients Undergoing Peripheral Stem Cell or Bone Marrow Transplantation Completed NCT00003883 Phase 3 fluconazole;itraconazole
21 Caspofungin Acetate Compared With Amphotericin B Liposomal in Treating Patients With Persistent Fever and Neutropenia Following Cancer Treatment Completed NCT00008359 Phase 3 caspofungin acetate;liposomal amphotericin B
22 Valacyclovir in Preventing Cytomegalovirus Infection in Patients Who Are Undergoing Donor Stem Cell Transplantation Completed NCT00045292 Phase 3 acyclovir;acyclovir sodium;valacyclovir
23 Liposomal Amphotericin B in Treating Granulocytopenia and Persistent Unexplained Fever in Cancer Patients Completed NCT00003938 Phase 3 liposomal amphotericin B
24 A Randomized Study of Gemtuzumab Ozogamicin (GO) With Daunorubicine and Cytarabine in Untreated Acute Myeloid Leukemia (AML) Aged of 50-70 Years Old Completed NCT00927498 Phase 3 conventional chemotherapy (AraC + Daunorubicin),;Mylotarg associated with conventional chemotherapy (AraC + Daunorubicin),
25 Gemtuzumab Ozogamicin+Cytarabine vs Idarubicin+Cytarabine in Elderly Patients With AML.Mylofrance 4 Recruiting NCT02473146 Phase 2, Phase 3 Gemtuzumab ozogamicin (GO)
26 Study of Fixed vs. Flexible Filgrastim to Accelerate Bone Marrow Recovery After Chemotherapy in Children With Cancer Active, not recruiting NCT01987596 Phase 3
27 Clinical Trial for Patients With a Stage IV Childhood Renal Tumor, Comparing Upfront Vincristine, Actinomycin-D and Doxorubicin (Standard Arm) With Upfront Vincristine, Carboplatin and Etoposide (Experimental Arm) Not yet recruiting NCT03669783 Phase 3 treatment Vincristin;treatment Actinomycin-D;treatment Doxorubicin;treatment Carboplatin;Etoposide
28 Cyproheptadine in Preventing Weight Loss in Children Receiving Chemotherapy for Cancer Terminated NCT01132547 Phase 3 cyproheptadine hydrochloride
29 Safety and Immunogenicity of Recombinant WT1 Antigen-Specific Cancer Immunotherapeutic Combined With Infusion of Treg Depleted T Cells for Adult WT1 Acute Myeloid Leukemia Unknown status NCT01513109 Phase 1, Phase 2
30 WT1 Peptid Vaccination in Carcinomas Unknown status NCT00153608 Phase 2
31 WT1 Peptide Vaccination in Acute Myeloid Leukemia (AML) Unknown status NCT00153582 Phase 2
32 Chemotherapy Followed by Surgery and Radiation Therapy With or Without Stem Cell Transplant in Treating Patients With Relapsed or Refractory Wilms' Tumor or Clear Cell Sarcoma of the Kidney Unknown status NCT00025103 Phase 2 carboplatin;cyclophosphamide;doxorubicin hydrochloride;etoposide;melphalan;vincristine sulfate
33 Dendritic Cell Vaccination for Patients With Solid Tumors Unknown status NCT01291420 Phase 1, Phase 2
34 Efficacy of Dendritic Cell Therapy for Myeloid Leukemia and Myeloma Unknown status NCT00965224 Phase 2
35 Safety Study Of Chemotherapy Combined With Dendritic Cell Vaccine to Treat Breast Cancer Unknown status NCT02018458 Phase 1, Phase 2
36 Clinical Study of DC Plus CIK for Patients With Relapse Acute Leukemia After Allo-HSCT Unknown status NCT01956630 Phase 1, Phase 2
37 Tandem Peripheral Blood Stem Cell (PBSC) Rescue for High Risk Solid Tumors Unknown status NCT00179816 Phase 1, Phase 2 High-Dose Chemotherapy with Tandem PBSC Rescue.
38 External-Beam Radiation Therapy With or Without Indinavir and Ritonavir in Treating Patients With Brain Metastases Unknown status NCT00637637 Phase 2 indinavir sulfate;ritonavir
39 Light-Emitting Diode Therapy in Preventing Mucositis in Children Receiving Chemotherapy With or Without Radiation Therapy Before Bone Marrow Transplantation Unknown status NCT00036712 Phase 2
40 A Phase I/II Study of Gene-modified WT1 TCR Therapy in MDS & AML Patients Completed NCT02550535 Phase 1, Phase 2
41 Wilm's Tumor 1 (WT1) Peptide Vaccine for High Risk Hematologic Malignancy Completed NCT00433745 Phase 2 WT1 Peptide Vaccine
42 WT-1 Analog Peptide Vaccine in Acute Myeloid Leukemia (AML) or Acute Lymphoblastic Leukemia (ALL) Completed NCT01266083 Phase 2
43 WT-1 Analog Peptide Vaccine in Malignant Pleural Mesothelioma After Combined Modality Therapy Completed NCT01265433 Phase 2
44 WT1 TCR Gene Therapy for Leukaemia: A Phase I/II Safety and Toxicity Study Completed NCT01621724 Phase 1, Phase 2
45 A Phase II Study of Topotecan in Children With Recurrent Wilms Tumor Completed NCT00187031 Phase 2 Topotecan, Filgrastim (G-CSF), Pegfilgrastim
46 WT1 Immunity Via DNA Fusion Gene Vaccination in Haematological Malignancies by Intramuscular Injection Followed by Intramuscular Electroporation Completed NCT01334060 Phase 2
47 Wilm's Tumor 1 Protein Vaccine to Treat Cancers of the Blood Completed NCT00923910 Phase 1, Phase 2 WT1 Peptide-Pulsed Dendritic Cells;Donor Lymphocytes;IL-4;KLH;WT1 Peptides;Endotoxin;Diphenhydramine;Acetaminophen
48 Peptide Vaccinations to Treat Patients With Low-Risk Myeloid Cancers Completed NCT00488592 Phase 2 GM-CSF (Sargramostim)
49 Sorafenib Tosylate in Treating Younger Patients With Relapsed or Refractory Rhabdomyosarcoma, Wilms Tumor, Liver Cancer, or Thyroid Cancer Completed NCT01502410 Phase 2 sorafenib tosylate
50 Phase I/II Study of Immune Therapy After Allograft in Patients With Myeloid Hemopathy Completed NCT01819558 Phase 1, Phase 2

Search NIH Clinical Center for Wilms Tumor 1

Cochrane evidence based reviews: wilms tumor

Genetic Tests for Wilms Tumor 1

Genetic tests related to Wilms Tumor 1:

# Genetic test Affiliating Genes
1 Wilms Tumor 1 29 BRCA2 GPC3 GPC4 H19 IGF2 WT1
2 Nephroblastoma 29

Anatomical Context for Wilms Tumor 1

MalaCards organs/tissues related to Wilms Tumor 1:

41
Kidney, Myeloid, Lung, Liver, Lymph Node, T Cells, Ovary

The Foundational Model of Anatomy Ontology organs/tissues related to Wilms Tumor 1:

19
Children

Publications for Wilms Tumor 1

Articles related to Wilms Tumor 1:

(show top 50) (show all 295)
# Title Authors Year
1
Loss of Wilms tumor 1 protein is a marker for apoptosis in response to replicative stress in leukemic cells. ( 29589053 )
2018
2
Wilms' tumor 1-associating protein promotes renal cell carcinoma proliferation by regulating CDK2 mRNA stability. ( 29482572 )
2018
3
Immunoreactivity of Wilms tumor 1 (WT1) as an additional evidence supporting hemangiomatous rather than inflammatory origin in the etiopathogenesis of angiolymphoid hyperplasia with eosinophilia. ( 29445571 )
2018
4
Wilms' Tumor 1 Overexpression in Granulosa Cells Is Associated with Polycystic Ovaries in Polycystic Ovary Syndrome Patients. ( 29414825 )
2018
5
Quantification of Wilms' tumor 1 mRNA by digital polymerase chain reaction. ( 28994041 )
2018
6
Sensitive detection of rare antigen-specific T cells directed against Wilms' tumor 1 by FluoroSpot assay. ( 28573960 )
2018
7
Outcomes of measurable residual disease in pediatric acute myeloid leukemia pre- and post-hematopoietic stem cell transplant: validation of difference from normal flow cytometry with chimerism studies and Wilms tumor 1 gene expression. ( 29933069 )
2018
8
Wilms' Tumor 1 Gene Expression Using a Standardized European LeukemiaNet-Certified Assay Compared to Other Methods for Detection of Minimal Residual Disease in Myelodysplastic Syndrome and Acute Myelogenous Leukemia after Allogeneic Blood Stem Cell Transplantation. ( 29753838 )
2018
9
Description of mutation spectrum and polymorphism of Wilms' tumor 1 (WT1) gene in hypospadias patients in the Indonesian population. ( 29958641 )
2018
10
Wilms' tumor 1-associating protein plays an aggressive role in diffuse large B-cell lymphoma and forms a complex with BCL6 via Hsp90. ( 30143009 )
2018
11
A phase I clinical study of a cocktail vaccine of Wilms' tumor 1 (WT1) HLA class I and II peptides for recurrent malignant glioma. ( 30430205 )
2018
12
Wilms' tumor 1 drives fibroproliferation and myofibroblast transformation in severe fibrotic lung disease. ( 30135315 )
2018
13
The antitumor effect of static and extremely low frequency magnetic fields against nephroblastoma and neuroblastoma. ( 29719057 )
2018
14
Reply to GATA3 differential expression in neuroblastoma and nephroblastoma. ( 29131532 )
2018
15
GATA3 differential expression in neuroblastoma and nephroblastoma. ( 29131553 )
2018
16
Variability in Imaging Practices and Comparative Cumulative Effective Dose for Neuroblastoma and Nephroblastoma Patients at 6 Pediatric Oncology Centers. ( 28697171 )
2018
17
Prognostic significance of Wilms' tumor 1 expression in patients with pancreatic ductal adenocarcinoma. ( 30008944 )
2018
18
Overexpression of Wilms' tumor 1 in skin lesions of psoriasis is associated with abnormal proliferation and apoptosis of keratinocytes. ( 30132523 )
2018
19
Prognostic significance of The Wilms' Tumor-1 (WT1) rs16754 polymorphism in acute myeloid leukemia. ( 29407184 )
2018
20
Wilms' tumor 1 (WT1) as a prognosis factor in gynecological cancers: A meta-analysis. ( 29995811 )
2018
21
Wilms Tumor 1 Expression at Diagnosis Correlates With Genetic Abnormalities and Polymorphism But Is Not Independently Prognostic in Acute Myelogenous Leukemia: A Hokkaido Leukemia Net Study. ( 30082223 )
2018
22
Phase I/II clinical trial of a Wilms' tumor 1-targeted dendritic cell vaccination-based immunotherapy in patients with advanced cancer. ( 30306202 )
2018
23
Multifocal Spinal Cord Nephroblastoma in a Dog. ( 29422310 )
2018
24
A blastema-predominant canine renal nephroblastoma with gingival metastasis: case report and literature review. ( 29528810 )
2018
25
Nephroblastoma in bester sturgeon, a cultured hybrid of Huso huso × Acipenser ruthenus: Diagnostic imaging, clinical and histopathological study. ( 29542819 )
2018
26
Partial Nephrectomy for Nephroblastoma: A National Cancer Data Base Review. ( 29559046 )
2018
27
Childhood nephroblastoma in Southern and Eastern Europe and the US: Incidence variations and temporal trends by human development index. ( 29655086 )
2018
28
MiR-429 regulates the proliferation and apoptosis of nephroblastoma cells through targeting c-myc. ( 30178838 )
2018
29
Analysis of prognostic factors of nephroblastoma in a Tunisian cohort. ( 30325488 )
2018
30
A case report of infantile cystic nephroblastoma. ( 30368245 )
2018
31
Development of oral cancer vaccine using recombinant Bifidobacterium displaying Wilms' tumor 1 protein. ( 28299466 )
2017
32
Impact of Wilms' tumor 1 expression on outcome of patients undergoing allogeneic stem cell transplantation for AML. ( 28067876 )
2017
33
Nephron, Wilms' tumor-1 (WT1), and synaptopodin expression in developing podocytes of mice. ( 28179596 )
2017
34
Cancer antigen profiling for malignant pleural mesothelioma immunotherapy: expression and coexpression of mesothelin, cancer antigen 125, and Wilms tumor 1. ( 29100432 )
2017
35
Turning back the Wheel: Inducing Mesenchymal to Epithelial Transition via Wilms Tumor 1 Knockdown in Human Mesothelioma Cell Lines to Influence Proliferation, Invasiveness, and Chemotaxis. ( 28054314 )
2017
36
Significance of Wilms' tumor 1 antigen as a cancer vaccine for pancreatic cancer. ( 28950074 )
2017
37
Wilms Tumor 1 gene expression levels improve risk stratification in AML patients. Results of a multicentre study within the Spanish Group for Molecular Biology in Haematology. ( 28369773 )
2017
38
Wilms Tumor 1 (WT1) mRNA Expression Level at Diagnosis Is a Significant Prognostic Marker in Elderly Patients with Myelodysplastic Syndrome. ( 27866185 )
2017
39
Differential detection of cytoplasmic Wilms tumor 1 expression by immunohistochemistry, western blotting and mRNA quantification. ( 27922671 )
2017
40
Nucleotide Transition 390C-T in the Wilms' Tumor 1 Gene: A Risk Factor of Hypospadias? ( 28878596 )
2017
41
Transcription factor Wilms' tumor 1 regulates developmental RNAs through 3' UTR interaction. ( 28289143 )
2017
42
Quantitative assessment of Wilms tumor 1 expression by real-time quantitative polymerase chain reaction in patients with acute myeloblastic leukemia. ( 28567073 )
2017
43
Use of Wilms Tumor 1 Gene Expression as a Reliable Marker for Prognosis and Minimal Residual Disease Monitoring in Acute Myeloid Leukemia With Normal Karyotype Patients. ( 28163010 )
2017
44
Molecular cloning of canine Wilms' tumor 1 for immunohistochemical analysis in canine tissues. ( 28603218 )
2017
45
Clinical Utility of Wilms' Tumor 1 Monitoring in Patients with Myeloid Malignancy and Prior Allogeneic Hematopoietic Stem Cell Transplantation. ( 28673850 )
2017
46
Extrarenal teratoma with nephroblastoma in the retroperitoneum: Case report and literature review. ( 29145295 )
2017
47
Optimized T-cell receptor-mimic chimeric antigen receptor T cells directed toward the intracellular Wilms Tumor 1 antigen. ( 27924074 )
2017
48
Outcome of Nephroblastoma Treatment According to the SIOP-2001 Strategy at a Single Institution in Argentina. ( 27379530 )
2017
49
Extrarenal Nephroblastoma of the Retroperitoneal Space in Children: A Case Report and Review of the Literature. ( 27571127 )
2017
50
Whole-tumor apparent diffusion coefficient measurements in nephroblastoma: Can it identify blastemal predominance? ( 27726252 )
2017

Variations for Wilms Tumor 1

UniProtKB/Swiss-Prot genetic disease variations for Wilms Tumor 1:

75
# Symbol AA change Variation ID SNP ID
1 WT1 p.Pro181Ser VAR_007739 rs2234584
2 WT1 p.Ser223Asn VAR_007740
3 WT1 p.Gly253Ala VAR_007741
4 WT1 p.Arg366Cys VAR_007745
5 WT1 p.Arg366His VAR_007746
6 WT1 p.His373Gln VAR_007747
7 WT1 p.Arg394Trp VAR_007750
8 WT1 p.Cys355Gly VAR_043799
9 WT1 p.Arg394Leu VAR_043807

ClinVar genetic disease variations for Wilms Tumor 1:

6 (show top 50) (show all 907)
# Gene Variation Type Significance SNP ID Assembly Location
1 WT1 NM_001198551.1(WT1): c.242_258del17 (p.Asn81Ilefs) deletion Pathogenic rs587776573 GRCh38 Chromosome 11, 32417633: 32417649
2 WT1 NM_001198551.1(WT1): c.242_258del17 (p.Asn81Ilefs) deletion Pathogenic rs587776573 GRCh37 Chromosome 11, 32439179: 32439195
3 WT1 NM_001198551.1(WT1): c.443delG (p.Gly148Valfs) deletion Pathogenic rs587776574 GRCh38 Chromosome 11, 32399967: 32399967
4 WT1 NM_001198551.1(WT1): c.443delG (p.Gly148Valfs) deletion Pathogenic rs587776574 GRCh37 Chromosome 11, 32421513: 32421513
5 WT1 NM_024426.4(WT1): c.1384C> T (p.Arg462Trp) single nucleotide variant Pathogenic rs121907900 GRCh37 Chromosome 11, 32413566: 32413566
6 WT1 NM_024426.4(WT1): c.1384C> T (p.Arg462Trp) single nucleotide variant Pathogenic rs121907900 GRCh38 Chromosome 11, 32392020: 32392020
7 WT1 NM_024426.5(WT1): c.1447+5G> A single nucleotide variant Pathogenic rs587776576 GRCh38 Chromosome 11, 32391967: 32391967
8 WT1 NM_024426.5(WT1): c.1447+5G> A single nucleotide variant Pathogenic rs587776576 GRCh37 Chromosome 11, 32413513: 32413513
9 WT1 NM_024426.4(WT1): c.1372C> T (p.Arg458Ter) single nucleotide variant Pathogenic rs121907909 GRCh37 Chromosome 11, 32413578: 32413578
10 WT1 NM_024426.4(WT1): c.1372C> T (p.Arg458Ter) single nucleotide variant Pathogenic rs121907909 GRCh38 Chromosome 11, 32392032: 32392032
11 WT1 NM_024426.4(WT1): c.1288C> T (p.Arg430Ter) single nucleotide variant Pathogenic rs121907906 GRCh37 Chromosome 11, 32414263: 32414263
12 WT1 NM_024426.4(WT1): c.1288C> T (p.Arg430Ter) single nucleotide variant Pathogenic rs121907906 GRCh38 Chromosome 11, 32392717: 32392717
13 WT1 NM_024426.4(WT1): c.531C> A (p.Tyr177Ter) single nucleotide variant Pathogenic rs121907911 GRCh37 Chromosome 11, 32456361: 32456361
14 WT1 NM_024426.4(WT1): c.531C> A (p.Tyr177Ter) single nucleotide variant Pathogenic rs121907911 GRCh38 Chromosome 11, 32434815: 32434815
15 BRCA2 NM_000059.3(BRCA2): c.658_659delGT (p.Val220Ilefs) deletion Pathogenic rs80359604 GRCh37 Chromosome 13, 32903606: 32903607
16 BRCA2 NM_000059.3(BRCA2): c.658_659delGT (p.Val220Ilefs) deletion Pathogenic rs80359604 GRCh38 Chromosome 13, 32329469: 32329470
17 BRCA2 NM_000059.3(BRCA2): c.5645C> G (p.Ser1882Ter) single nucleotide variant Pathogenic rs80358785 GRCh37 Chromosome 13, 32914137: 32914137
18 BRCA2 NM_000059.3(BRCA2): c.5645C> G (p.Ser1882Ter) single nucleotide variant Pathogenic rs80358785 GRCh38 Chromosome 13, 32340000: 32340000
19 GPC3 NM_004484.3(GPC3): c.595C> T (p.Arg199Ter) single nucleotide variant Pathogenic rs104894855 GRCh37 Chromosome X, 132887946: 132887946
20 GPC3 NM_004484.3(GPC3): c.595C> T (p.Arg199Ter) single nucleotide variant Pathogenic rs104894855 GRCh38 Chromosome X, 133753919: 133753919
21 GPC3 NM_004484.3(GPC3): c.361C> T (p.His121Tyr) single nucleotide variant Pathogenic rs122453119 GRCh37 Chromosome X, 132888180: 132888180
22 GPC3 NM_004484.3(GPC3): c.361C> T (p.His121Tyr) single nucleotide variant Pathogenic rs122453119 GRCh38 Chromosome X, 133754153: 133754153
23 GPC3 NM_004484.3(GPC3): c.1705G> A (p.Ala569Thr) single nucleotide variant Pathogenic rs122453120 GRCh37 Chromosome X, 132670190: 132670190
24 GPC3 NM_004484.3(GPC3): c.1705G> A (p.Ala569Thr) single nucleotide variant Pathogenic rs122453120 GRCh38 Chromosome X, 133536162: 133536162
25 GPC3 NM_004484.3(GPC3): c.1159C> T (p.Arg387Ter) single nucleotide variant Pathogenic rs122453121 GRCh37 Chromosome X, 132833930: 132833930
26 GPC3 NM_004484.3(GPC3): c.1159C> T (p.Arg387Ter) single nucleotide variant Pathogenic rs122453121 GRCh38 Chromosome X, 133699902: 133699902
27 CTNNB1 NM_001904.3(CTNNB1): c.133_135delTCT (p.Ser45del) deletion Pathogenic rs587776850 GRCh38 Chromosome 3, 41224645: 41224647
28 CTNNB1 NM_001904.3(CTNNB1): c.133_135delTCT (p.Ser45del) deletion Pathogenic rs587776850 GRCh37 Chromosome 3, 41266136: 41266138
29 CTNNB1 NM_001904.3(CTNNB1): c.134C> T (p.Ser45Phe) single nucleotide variant Pathogenic/Likely pathogenic rs121913409 GRCh37 Chromosome 3, 41266137: 41266137
30 CTNNB1 NM_001904.3(CTNNB1): c.134C> T (p.Ser45Phe) single nucleotide variant Pathogenic/Likely pathogenic rs121913409 GRCh38 Chromosome 3, 41224646: 41224646
31 BRCA2 NM_000059.3(BRCA2): c.5682C> G (p.Tyr1894Ter) single nucleotide variant Pathogenic rs41293497 GRCh37 Chromosome 13, 32914174: 32914174
32 BRCA2 NM_000059.3(BRCA2): c.5682C> G (p.Tyr1894Ter) single nucleotide variant Pathogenic rs41293497 GRCh38 Chromosome 13, 32340037: 32340037
33 BRCA2 NM_000059.3(BRCA2): c.7480C> T (p.Arg2494Ter) single nucleotide variant Pathogenic rs80358972 GRCh37 Chromosome 13, 32930609: 32930609
34 BRCA2 NM_000059.3(BRCA2): c.7480C> T (p.Arg2494Ter) single nucleotide variant Pathogenic rs80358972 GRCh38 Chromosome 13, 32356472: 32356472
35 BRCA2 NM_000059.3(BRCA2): c.9117G> A (p.Pro3039=) single nucleotide variant Pathogenic rs28897756 GRCh37 Chromosome 13, 32954050: 32954050
36 BRCA2 NM_000059.3(BRCA2): c.9117G> A (p.Pro3039=) single nucleotide variant Pathogenic rs28897756 GRCh38 Chromosome 13, 32379913: 32379913
37 WT1 NM_024426.5(WT1): c.1063T> C (p.Cys355Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs142059681 GRCh37 Chromosome 11, 32421544: 32421544
38 WT1 NM_024426.5(WT1): c.1063T> C (p.Cys355Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs142059681 GRCh38 Chromosome 11, 32399998: 32399998
39 BRCA2 NM_000059.3(BRCA2): c.145G> T (p.Glu49Ter) single nucleotide variant Pathogenic rs80358435 GRCh37 Chromosome 13, 32893291: 32893291
40 BRCA2 NM_000059.3(BRCA2): c.145G> T (p.Glu49Ter) single nucleotide variant Pathogenic rs80358435 GRCh38 Chromosome 13, 32319154: 32319154
41 BRCA2 NM_000059.3(BRCA2): c.5857G> T (p.Glu1953Ter) single nucleotide variant Pathogenic rs80358814 GRCh37 Chromosome 13, 32914349: 32914349
42 BRCA2 NM_000059.3(BRCA2): c.5857G> T (p.Glu1953Ter) single nucleotide variant Pathogenic rs80358814 GRCh38 Chromosome 13, 32340212: 32340212
43 BRCA2 NM_000059.3(BRCA2): c.7051G> A (p.Ala2351Thr) single nucleotide variant Uncertain significance rs80358930 GRCh37 Chromosome 13, 32929041: 32929041
44 BRCA2 NM_000059.3(BRCA2): c.7051G> A (p.Ala2351Thr) single nucleotide variant Uncertain significance rs80358930 GRCh38 Chromosome 13, 32354904: 32354904
45 WT1 NM_024426.5(WT1): c.1463G> A (p.Ser488Asn) single nucleotide variant Uncertain significance rs267602849 GRCh37 Chromosome 11, 32410710: 32410710
46 WT1 NM_024426.5(WT1): c.1463G> A (p.Ser488Asn) single nucleotide variant Uncertain significance rs267602849 GRCh38 Chromosome 11, 32389164: 32389164
47 WT1 NM_024426.5(WT1): c.1463G> A (p.Ser488Asn) single nucleotide variant Uncertain significance rs267602849 NCBI36 Chromosome 11, 32367286: 32367286
48 WT1 NM_024426.4(WT1): c.1024G> A (p.Asp342Asn) single nucleotide variant Uncertain significance rs267602851 GRCh37 Chromosome 11, 32421568: 32421568
49 WT1 NM_024426.4(WT1): c.1024G> A (p.Asp342Asn) single nucleotide variant Uncertain significance rs267602851 GRCh38 Chromosome 11, 32400022: 32400022
50 WT1 NM_024426.4(WT1): c.1024G> A (p.Asp342Asn) single nucleotide variant Uncertain significance rs267602851 NCBI36 Chromosome 11, 32378144: 32378144

Cosmic variations for Wilms Tumor 1:

9 (show all 21)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM21403 WT1 kidney,NS,Wilms tumour,unilateral c.1013C>A p.S338Y 11:32396289-32396289 31
2 COSM21967 WT1 kidney,NS,Wilms tumour,unilateral c.1180C>G p.R394G 11:32392020-32392020 31
3 COSM21401 WT1 kidney,NS,Wilms tumour,unilateral c.1084C>T p.R362* 11:32392717-32392717 31
4 COSM21445 WT1 kidney,NS,Wilms tumour,unilateral c.602G>A p.G201D 11:32428022-32428022 31
5 COSM21417 WT1 kidney,NS,Wilms tumour,unilateral c.1180C>T p.R394W 11:32392020-32392020 31
6 COSM21397 WT1 kidney,NS,Wilms tumour,unilateral c.1168C>T p.R390* 11:32392032-32392032 31
7 COSM21441 WT1 kidney,NS,Wilms tumour,unilateral c.901C>T p.R301* 11:32396401-32396401 31
8 COSM21398 WT1 kidney,NS,Wilms tumour,unilateral c.461T>C p.F154S 11:32428601-32428601 31
9 COSM21408 WT1 kidney,NS,Wilms tumour,unilateral c.1096C>T p.R366C 11:32392705-32392705 31
10 COSM21439 WT1 kidney,NS,Wilms tumour,unilateral c.797A>G p.N266S 11:32416490-32416490 31
11 COSM21971 WT1 kidney,NS,Wilms tumour,unilateral c.1112A>G p.K371R 11:32392689-32392689 31
12 COSM44510 TP53 kidney,NS,Wilms tumour,unilateral c.717C>G p.N239K 17:7674246-7674246 31
13 COSM5678 CTNNB1 kidney,NS,Wilms tumour,unilateral c.107A>C p.H36P 3:41224619-41224619 31
14 COSM5667 CTNNB1 kidney,NS,Wilms tumour,unilateral c.134C>T p.S45F 3:41224646-41224646 31
15 COSM5664 CTNNB1 kidney,NS,Wilms tumour,unilateral c.121A>G p.T41A 3:41224633-41224633 31
16 COSM5663 CTNNB1 kidney,NS,Wilms tumour,unilateral c.133T>C p.S45P 3:41224645-41224645 31
17 COSM5692 CTNNB1 kidney,NS,Wilms tumour,unilateral c.134C>A p.S45Y 3:41224646-41224646 31
18 COSM5689 CTNNB1 kidney,NS,Wilms tumour,unilateral c.134C>G p.S45C 3:41224646-41224646 31
19 COSM13168 CTNNB1 kidney,NS,Wilms tumour,unilateral c.104T>C p.I35T 3:41224616-41224616 31
20 COSM250063 AMER1 kidney,NS,Wilms tumour,unilateral c.565C>T p.Q189* 23:64192722-64192722 31
21 COSM28715 AMER1 kidney,NS,Wilms tumour,unilateral c.85G>A p.A29T 23:64193202-64193202 31

Copy number variations for Wilms Tumor 1 from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 24429 1 180300000 185800000 Microamplification CACNA1E Nephroblastoma

Expression for Wilms Tumor 1

Search GEO for disease gene expression data for Wilms Tumor 1.

Pathways for Wilms Tumor 1

Pathways related to Wilms Tumor 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.23 CTNNB1 FZD6 GPC3 IGF2
2 11.18 CTNNB1 FZD6 IGF2

GO Terms for Wilms Tumor 1

Biological processes related to Wilms Tumor 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.83 BRCA2 CHEK2 CTNNB1 TRIM28 WT1
2 kidney development GO:0001822 9.58 CTNNB1 GPC3 WT1
3 oocyte maturation GO:0001556 9.48 BRCA2 TRIP13
4 male genitalia development GO:0030539 9.46 CTNNB1 WT1
5 double-strand break repair GO:0006302 9.43 BRCA2 CHEK2 TRIP13
6 anterior/posterior axis specification GO:0009948 9.37 CTNNB1 GPC3
7 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.32 BRCA2 CHEK2
8 embryonic placenta morphogenesis GO:0060669 9.16 IGF2 TRIM28
9 branching involved in ureteric bud morphogenesis GO:0001658 9.13 CTNNB1 GPC3 WT1
10 meiotic recombination checkpoint GO:0051598 8.62 BRCA2 TRIP13

Sources for Wilms Tumor 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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