WT1
MCID: WLM013
MIFTS: 65

Wilms Tumor 1 (WT1)

Categories: Blood diseases, 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 56 73 29 6
Nephroblastoma 56 12 52 58 36 29 6 15 71
Wilms Tumor 56 58 43 15
Wilms' Tumor 12 74 52
Wt1 56 52 73
Bilateral Wilms Tumor 52 71
Nonanaplastic Kidney Wilms Tumor 71
Childhood Kidney Wilms Tumor 71
Adult Kidney Wilms Tumor 71
Renal Embryonic Tumor 58
Wilms Tumor, Somatic 56
Adult Nephroblastoma 12
Wilms Tumor, Type 1 56
Wt1 Disorder 24

Characteristics:

Orphanet epidemiological data:

58
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:

56
Inheritance:
somatic mutation
autosomal dominant

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, ).



GeneReviews:

24
Penetrance The penetrance of wt1 disorder is high. it is age dependent, reaching about 90% by the end of puberty....

Classifications:

Orphanet: 58  
Rare renal diseases


External Ids:

Disease Ontology 12 DOID:2154
OMIM 56 194070
OMIM Phenotypic Series 56 PS194070
KEGG 36 H02301
MeSH 43 D009396
SNOMED-CT 67 25081006 302849000
MESH via Orphanet 44 D009396
ICD10 via Orphanet 33 C64
UMLS via Orphanet 72 C0027708
Orphanet 58 ORPHA654
MedGen 41 C0027708
UMLS 71 C0027708 C1332219 C1333015 more

Summaries for Wilms Tumor 1

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 654 Definition A rare malignant renal tumor , typically affecting the pediatric population, characterized by an abnormal proliferation of cells that resemble the kidney cells of an embryo (metanephroma), leading to the term embryonal tumor. Epidemiology The annual incidence is estimated at about 1/10,000 births and it affects boys as well as girls. Clinical description Nephroblastoma 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. Etiology Nephroblastoma 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 methods Diagnosis 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 diagnosis Differential 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 treatment Disease 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. Prognosis In 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 nephrotic syndrome, type 4 and hereditary wilms' tumor, and has symptoms including abdominal pain An important gene associated with Wilms Tumor 1 is WT1 (WT1 Transcription Factor). The drugs Clotrimazole and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include children, kidney and myeloid, and related phenotypes are abdominal pain and nephroblastoma

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

OMIM : 56 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)

KEGG : 36 Nephroblastoma, also called Wilms tumor (WT), is the most common renal tumor of childhood. It can present as a single nodule, as multifocal unilateral lesions or as bilateral tumours. Typically, nephroblastoma comprises three histological components namely blastemal, epithelial and stromal. WT1, a zinc-finger transcription factor, was identified as the first nephroblastoma gene. Several other genes including CTNNB1, WTX, and TP53 have also been implicated in various stages of tumorigenesis of nephroblastoma.

UniProtKB/Swiss-Prot : 73 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 : 74 Wilms' tumor, also known as nephroblastoma, is a cancer of the kidneys that typically occurs in... more...

GeneReviews: NBK556455

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 952)
# Related Disease Score Top Affiliating Genes
1 nephrotic syndrome, type 4 34.3 WT1 LOC107982234
2 hereditary wilms' tumor 34.0 WT1 TRIM28
3 meacham syndrome 33.6 WT1 LOC107982234
4 simpson-golabi-behmel syndrome 33.6 GPC4 GPC3
5 li-fraumeni syndrome 33.3 IGF2 CHEK2 BRCA2
6 osteogenic sarcoma 33.2 WT1 MEG3 IGF2 H19 CHEK2
7 beckwith-wiedemann syndrome 33.2 WT1 MEG3 IGF2-AS IGF2 H19 GPC3
8 wilms tumor predisposition 33.1 WT1 IGF2 H19 GPC4 GPC3 DIS3L2
9 pax6-related aniridia 33.0 WT1 IGF2 H19 GPC4 GPC3 BRCA2
10 hemihyperplasia, isolated 32.9 WT1 IGF2 H19
11 renal wilms' tumor 32.9 WT1 DIS3L2
12 wilms tumor 5 32.8 WTAP WT1 POU6F2 IGF2 H19 GPC3
13 liver leiomyosarcoma 32.4 WT1 GPC3
14 ovarian gonadoblastoma 32.4 WT1 GPC3
15 endosalpingiosis 32.4 WT1 BRCA2
16 wilson-turner x-linked mental retardation syndrome 32.3 WT1 POU6F2 IGF2
17 mayer-rokitansky-kuster-hauser syndrome 32.2 WT1 H19
18 rhabdoid tumor predisposition syndrome 1 32.2 WT1 IGF2
19 adrenocortical carcinoma, hereditary 31.0 IGF2 H19 CHEK2
20 silver-russell syndrome 1 30.9 MEG3 IGF2 H19
21 wilms tumor 2 30.7 KCNQ1DN H19
22 simpson-golabi-behmel syndrome, type 1 30.7 GPC4 GPC3
23 overgrowth syndrome 30.7 IGF2 GPC3 DIS3L2
24 hepatoblastoma 30.4 IGF2 H19 GPC3
25 choriocarcinoma 30.2 IGF2 H19 GPC3
26 cervical wilms' tumor 12.7
27 global developmental delay, lung cysts, overgrowth, and wilms tumor 12.6
28 wilms tumor 3 12.5
29 blastema predominant kidney wilms' tumor 12.5
30 wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome 12.4
31 mixed cell type kidney wilms' tumor 12.3
32 metachronous kidney wilms' tumor 12.3
33 adenomatoid tumor 11.9
34 46,xy sex reversal 11.9
35 mulibrey nanism 11.7
36 hyperparathyroidism 2 with jaw tumors 11.7
37 mosaic variegated aneuploidy syndrome 3 11.7
38 mosaic variegated aneuploidy syndrome 11.7
39 frasier syndrome 11.6
40 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 11.6
41 li-fraumeni syndrome 2 11.6
42 bohring-opitz syndrome 11.6
43 thauvin-robinet-faivre syndrome 11.6
44 focal segmental glomerulosclerosis 11.6
45 aniridia 1 11.5
46 endometrial cancer 11.5
47 wilms tumor 4 11.5
48 sarcoma 11.5
49 genetic steroid-resistant nephrotic syndrome 11.4
50 chronic kidney disease 11.4

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



Diseases related to Wilms Tumor 1

Symptoms & Phenotypes for Wilms Tumor 1

Human phenotypes related to Wilms Tumor 1:

58 31 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abdominal pain 58 31 hallmark (90%) Very frequent (99-80%) HP:0002027
2 nephroblastoma 58 31 hallmark (90%) Very frequent (99-80%) HP:0002667
3 fever 58 31 occasional (7.5%) Occasional (29-5%) HP:0001945
4 weight loss 58 31 occasional (7.5%) Occasional (29-5%) HP:0001824
5 hematuria 58 31 occasional (7.5%) Occasional (29-5%) HP:0000790
6 neoplasm of the lung 58 31 occasional (7.5%) Occasional (29-5%) HP:0100526
7 hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0000822
8 lymphadenopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002716
9 aniridia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000526
10 neoplasm of the liver 58 31 occasional (7.5%) Occasional (29-5%) HP:0002896
11 neoplasm 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

56
Genitourinary Kidneys:
nephroblastoma

Neoplasia:
nephroblastoma

Clinical features from OMIM:

194070

UMLS symptoms related to Wilms Tumor 1:


abdominal pain

Drugs & Therapeutics for Wilms Tumor 1

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

(show top 50) (show all 242)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clotrimazole Approved, Vet_approved Phase 4 23593-75-1 2812
2
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
3
Itraconazole Approved, Investigational Phase 4 84625-61-6 55283
4
Vincristine Approved, Investigational Phase 4 57-22-7, 2068-78-2 5978
5
Doxorubicin Approved, Investigational Phase 4 23214-92-8 31703
6
Dactinomycin Approved, Investigational Phase 4 50-76-0 457193 2019
7
Epirubicin Approved Phase 4 56420-45-2 41867
8
Cyclophosphamide Approved, Investigational Phase 4 50-18-0, 6055-19-2 2907
9
Oxytetracycline Approved, Investigational, Vet_approved Phase 4 79-57-2 54715139 5280972
10
Pirarubicin Investigational Phase 4 72496-41-4
11 Antifungal Agents Phase 4
12 Hormones Phase 4
13 Hormone Antagonists Phase 4
14 Cytochrome P-450 Enzyme Inhibitors Phase 4
15 Cytochrome P-450 CYP3A Inhibitors Phase 4
16
Hydroxyitraconazole Phase 4
17
Liposomal doxorubicin Phase 4 31703
18 Tubulin Modulators Phase 4
19 Antibiotics, Antitubercular Phase 4
20 Antimitotic Agents Phase 4
21
Decitabine Approved, Investigational Phase 2, Phase 3 2353-33-5 451668
22
Sulfamethoxazole Approved Phase 3 723-46-6 5329
23
Trimethoprim Approved, Vet_approved Phase 3 738-70-5 5578
24
Caspofungin Approved Phase 3 162808-62-0, 179463-17-3 2826718 468682
25
Captopril Approved Phase 3 62571-86-2 44093
26
Fluconazole Approved, Investigational Phase 3 86386-73-4 3365
27
Ribavirin Approved Phase 3 36791-04-5 37542
28
Palivizumab Approved, Investigational Phase 3 188039-54-5
29
Acyclovir Approved Phase 3 59277-89-3 2022
30
Amphotericin B Approved, Investigational Phase 3 1397-89-3 5280965 14956
31
Sorafenib Approved, Investigational Phase 3 284461-73-0 216239 406563
32
Bortezomib Approved, Investigational Phase 3 179324-69-7 387447 93860
33
Daunorubicin Approved Phase 3 20830-81-3 30323
34
Mitoxantrone Approved, Investigational Phase 3 65271-80-9 4212
35
Cytarabine Approved, Experimental, Investigational Phase 3 147-94-4, 65-46-3 6253
36
Histamine Approved, Investigational Phase 3 51-45-6 774
37
Cyproheptadine Approved Phase 3 129-03-3 2913
38
Glutamic acid Approved, Nutraceutical Phase 3 56-86-0 33032
39
Aspartic acid Approved, Nutraceutical Phase 3 56-84-8 5960
40
Asparagine Approved, Investigational, Nutraceutical Phase 3 70-47-3 6267
41 Anti-Infective Agents Phase 3
42 Anti-Bacterial Agents Phase 3
43 Immunoglobulins Phase 3
44 Antibodies Phase 3
45 Antibodies, Monoclonal Phase 3
46 Antihypertensive Agents Phase 3
47 Angiotensin-Converting Enzyme Inhibitors Phase 3
48 HIV Protease Inhibitors Phase 3
49
protease inhibitors Phase 3
50 valacyclovir Phase 3

Interventional clinical trials:

(show top 50) (show all 217)
# Name Status NCT ID Phase Drugs
1 A Pharmacokinetic Study of Actinomycin-D and Vincristine in Children With Cancer Unknown status NCT00491946 Phase 4 Actinomycin-D;Vincristine
2 Clinical Study to Evaluate the Efficacy of Prophylactic Itraconazole in High-Dose Chemotherapy and Autologous Hematopoietic Stem Cell Transplantation for Pediatric Solid Tumors Completed NCT00336531 Phase 4 itraconazole
3 A Multicenter, Randomized, Double-blind, Prospective Study to Evaluate the Efficacy and Safety of Vincristine, Dactinomycin/Cyclophosphamide Combination Therapy Combined With Liposomal Doxorubicin/Doxorubicin/Pharmorubicin/Pirarubicin in 0.5-14 Year Old Children With Nephroblastoma. Not yet recruiting NCT03892330 Phase 4 Vincristine;Oxytetracycline/ Cyclophosphamide;Liposomal doxorubicin;Doxorubicin;Pharmorubicin;Pirarubicin
4 Nephroblastoma Clinical Trial and Study Unknown status NCT00003804 Phase 3 vincristine sulfate
5 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
6 Nephroblastoma (Wilms Tumour) Clinical Trial And Study Unknown status NCT00047138 Phase 3 carboplatin;cyclophosphamide;doxorubicin hydrochloride;etoposide;vincristine sulfate
7 Treatment for Very Low and Standard Risk Favorable Histology Wilms Tumor Unknown status NCT00352534 Phase 3 vincristine sulfate;doxorubicin hydrochloride
8 Treatment of Newly Diagnosed Higher Risk Favorable Histology Wilms Tumors Unknown status NCT00379340 Phase 3 doxorubicin hydrochloride;liposomal vincristine sulfate;cyclophosphamide;etoposide
9 Prospective and Randomized Study of Fixed Versus Flexible Prophylactic Administration of Granulocyte Colony-Stimulating Factor (G-CSF) in Children With Cancer Unknown status NCT01987596 Phase 3
10 NATIONAL WILMS TUMOR STUDY-5 -- THERAPEUTIC TRIAL AND BIOLOGY STUDY Completed NCT00002611 Phase 3 cyclophosphamide;doxorubicin hydrochloride;etoposide;vincristine sulfate
11 Glutamic Acid to Decrease Vincristine Toxicity in Children With Cancer Completed NCT00369564 Phase 3 glutamic acid
12 Detection of Minimal Residual Disease in Newly Diagnosed Patients With Leukemia and Those Who Undergo a Bone Marrow Transplant Using the Wilms Tumor Suppressor Gene (WT1) as a Marker By RT-PCR Completed NCT00179829 Phase 2, Phase 3
13 National Wilms Tumor Study-5 -- Treatment of Relapsed Patients, A National Wilms Tumor Study Group Phase III Study Completed NCT00002610 Phase 3 carboplatin;cyclophosphamide;doxorubicin hydrochloride;etoposide;vincristine sulfate
14 A Randomized Double Blinded Trial of Topical Caphosol to Prevent Oral Mucositis in Children Undergoing Hematopoietic Stem Cell Transplantation Completed NCT01305200 Phase 3 supersaturated calcium phosphate rinse
15 Phase III Study of Captopril in Patients Undergoing Autologous Bone Marrow/Stem Cell Transplantation Completed NCT00004230 Phase 3 captopril;cyclophosphamide
16 A Randomized, Comparative Study of Itraconazole Versus Fluconazole for Prevention of Aspergillus Infections in Peripheral Blood Stem Cell and Marrow Transplant Recipients Completed NCT00003883 Phase 3 fluconazole;itraconazole
17 A Randomized Double-Blind Placebo-Controlled Phase III Study To Evaluate The Safety And Efficacy Of Palivizumab Combined With Aerosolized Ribavirin Compared To Ribavirin Alone To Treat RSV Pneumonia In Patients With Bone Marrow Transplants (BMT) Completed NCT00014391 Phase 3 ribavirin
18 A Phase III Multicenter Study of Cytomegalovirus Prophylaxis With Valacyclovir for the Prevention of Serious Fungal and Bacterial Infections Among Cytomegalovirus Seronegative Recipients of Cytomegalovirus Seropositive Sx Stem Cell Transplants Completed NCT00045292 Phase 3 acyclovir;acyclovir sodium;valacyclovir
19 Music Video and Adolescent/Young Adult Resilience During Transplant Completed NCT00305851 Phase 3
20 A Strategic Study to Determine the Optimal Moment to Initiate Systemic Antifungal Therapy With Ambisome in Granulocytopenic Cancer Patients With Unexplained Fever Refractory to Empirical Antibacterials Completed NCT00003938 Phase 3 liposomal amphotericin B
21 A Multicenter, Double-Blind, Randomized, Comparative Study To Evaluate The Safety, Tolerability, And Efficacy Of MK-0991 Versus (Amphotericin B) Liposome For Injection As Empirical Therapy In Patients With Persistent Fever And Neutropenia Completed NCT00008359 Phase 3 caspofungin acetate;liposomal amphotericin B
22 Treatment for Patients With Bilateral, Multicentric, or Bilaterally-Predisposed Unilateral Wilms Tumor Active, not recruiting NCT00945009 Phase 3 Doxorubicin Hydrochloride;Vincristine Sulfate
23 A Phase III Randomized Trial for Patients With De Novo AML Using Bortezomib and Sorafenib (NSC# 681239, NSC# 724772) for Patients With High Allelic Ratio FLT3/ITD Active, not recruiting NCT01371981 Phase 3 Asparaginase;Bortezomib;Cytarabine;Daunorubicin Hydrochloride;Etoposide;Mitoxantrone Hydrochloride;Sorafenib Tosylate
24 Randomized Open-label Non-inferiority Phase 3 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
25 Prevention of Cancer/Treatment-Related Weight Loss in Children at High Nutritional Risk Terminated NCT01132547 Phase 3 cyproheptadine hydrochloride
26 Therapeutic Efficacy of Wilms Tumor Gene (WT1) mRNA-electroporated Autologous Dendritic Cell Vaccination in Patients With Myeloid Malignancies and Multiple Myeloma: A Phase II Trial Unknown status NCT00965224 Phase 2
27 Protocol For The Treatment Of Relapsed And Refractory Wilms Tumour And Clear Cell Sarcoma Of The Kidney (CCSK) Unknown status NCT00025103 Phase 2 carboplatin;cyclophosphamide;doxorubicin hydrochloride;etoposide;melphalan;vincristine sulfate
28 Therapeutic Efficacy of Wilms' Tumor Gene (WT1) mRNA-electroporated Autologous Dendritic Cell Vaccination in Patients With Solid Tumors: a Phase I/Feasibility Study Unknown status NCT01291420 Phase 1, Phase 2
29 A Randomized, Placebo-Controlled Pilot Study of Genistein Supplementation in Pediatric Cancer Patients Receiving Myelosuppressive Chemotherapy Unknown status NCT02624388 Phase 2 Genistein;Placebo
30 A Multiinstitutional Trial To Evaluate The Prophylactic Use Of NASA-Developed Light Emitting Diodes For The Prevention Of Oral Mucositis In Bone Marrow Transplant Patients Unknown status NCT00036712 Phase 2
31 Radiation Therapy in Combination With Indinavir / Ritonavir (Crixivan / Norvir) for the Treatment of Brain Metastases: a Randomized Phase II Study Unknown status NCT00637637 Phase 2 indinavir sulfate;ritonavir
32 A Phase II Trial of All-Trans-Retinoic Acid in Combination With Interferon-Alpha 2a in Children With Recurrent Neuroblastoma or Wilms' Tumor Completed NCT00001509 Phase 2 IFN-alpha with retinoic acid
33 A Phase II Study of Topotecan in Children With Recurrent Wilms Tumor Completed NCT00187031 Phase 2 Topotecan, Filgrastim (G-CSF), Pegfilgrastim
34 Randomized Phase II Study of Adjuvant WT-1 Analog Peptide Vaccine in Patients With Malignant Pleural Mesothelioma (MPM) After Completion of Combined Modality Therapy Completed NCT01265433 Phase 2
35 A Phase II Study of the Raf Kinase and Receptor Tyrosine Kinase Inhibitor Sorafenib in Children and Young Adults With Relapsed/Refractory Rhabdomyosarcoma, Wilms Tumor, Hepatocellular Carcinoma, and Papillary Thyroid Carcinoma Completed NCT01502410 Phase 2 sorafenib tosylate
36 Phase II Study of Arsenic Trioxide in Neuroblastoma and Other Pediatric Solid Tumors Completed NCT00024258 Phase 2 arsenic trioxide
37 Phase II Trial of Ixabepilone (BMS-247550), an Epothilone B Analog, in Children and Young Adults With Refractory Solid Tumors Completed NCT00331643 Phase 2 ixabepilone
38 A Pilot Study of Tumor Lysate-pulsed Dendritic Cell Vaccine for Immune Augmentation for High-risk Solid Tumor Patients Following Autologous Stem Cell Transplantation Completed NCT00405327 Phase 2
39 Phase II Study of Cyclophosphamide, Doxorubicin, Vincristine, Etoposide, and Ifosfamide, Followed by Resection and Radiotherapy in Patients With Peripheral Primitive Neuroectodermal Tumors or Ewing's Sarcoma Completed NCT00002466 Phase 2 cyclophosphamide;doxorubicin hydrochloride;etoposide;ifosfamide;vincristine sulfate
40 Myeloablative Chemotherapy With Stem Cell Rescue for Rare Poor-Prognosis Cancers Completed NCT00141765 Phase 2
41 A Pilot Study Investigating the Effects of Glutamine and Vincristine-Induced Neuropathy in Pediatric Patients With Cancer Completed NCT00365768 Phase 2 Glutamine
42 Phase II Pharmacokinetic Study to Assess the Age-dependency in the Clearance of Doxorubicin in Paediatric Patients With Solid Tumours and Leukaemia Completed NCT01095926 Phase 2 doxorubicin
43 A Phase I/II Trial of Temodar in Pediatric Patients and Young Adults With High-Risk or Recurrent Solid Tumors Completed NCT00005952 Phase 1, Phase 2 temozolomide
44 Treatment of High Risk Renal Tumors: A Groupwide Phase II Study Completed NCT00335556 Phase 2 Doxorubicin Hydrochloride;Irinotecan Hydrochloride;Cyclophosphamide;Etoposide;Carboplatin;Vincristine Sulfate
45 Myeloablative Chemotherapy With Bone Marrow Rescue For Rare Poor-Prognosis Cancers Completed NCT00002515 Phase 2 carboplatin;thiotepa;topotecan hydrochloride
46 A Phase I/IIA Dose-Escalating Trial of BCL-2 Antisense (G3139) Treatment for Patients With Androgen-Independent Prostate Cancer or Other Advanced Solid Tumor Malignancies Completed NCT00003103 Phase 1, Phase 2 docetaxel
47 A Phase II Study of IMC-A12 (Anti-IGF-I Receptor Monoclonal Antibody, NSC #742460) in Children With Relapsed/Refractory Solid Tumors Completed NCT00831844 Phase 2
48 Phase II Liposomal Vincristine for Pediatric and Adolescent Patients With Relapsed Malignancies Completed NCT00038207 Phase 2 Liposomal Vincristine
49 Phase I/II Study of Adoptive Immunotherapy With CD8+ WT1-Specific CTL Clones for Patients With Advanced MDS, CML, AML or ALL After Allogeneic Hematopoietic Stem Cell Transplant Completed NCT00052520 Phase 1, Phase 2
50 Soluble Tumor Necrosis Factor Receptor: Enbrel® (Etanercept) for the Treatment of Acute Non-Infectious Pulmonary Dysfunction (Idiopathic Pneumonia Syndrome) Following Allogeneic Stem Cell Transplantation Completed NCT00309907 Phase 2 methylprednisolone

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

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

19
Children

MalaCards organs/tissues related to Wilms Tumor 1:

40
Kidney, Myeloid, T Cells, Bone, Lung, Bone Marrow, Liver

Publications for Wilms Tumor 1

Articles related to Wilms Tumor 1:

(show top 50) (show all 2752)
# Title Authors PMID Year
1
Vertical transmission of a mutation in exon 1 of the WT1 gene: lessons for genetic counseling. 6 56
18688870 2008
2
Biallelic BRCA2 mutations are associated with multiple malignancies in childhood including familial Wilms tumour. 56 6
15689453 2005
3
Somatic glypican 3 (GPC3) mutations in Wilms' tumour. 6 56
12085187 2002
4
Correlation of germ-line mutations and two-hit inactivation of the WT1 gene with Wilms tumors of stromal-predominant histology. 56 6
9108089 1997
5
Embryonal precursors of Wilms tumor. 61 56
31806814 2019
6
Introduction of a normal human chromosome 11 into a Wilms' tumor cell line controls its tumorigenic expression. 61 56
3031816 1987
7
Insulin-like growth factor-II gene expression in Wilms' tumour and embryonic tissues. 61 56
2995818 1985
8
Del11p13/nephroblastoma without aniridia. 56 61
6092262 1984
9
The c-Ha-ras1, insulin and beta-globin loci map outside the deletion associated with aniridia-Wilms' tumour. 61 56
6312329 1983
10
Glomerulonephritis associated with male pseudohermaphroditism and nephroblastoma. 56 61
6307071 1983
11
Familial occurrence of Wilms' tumor: nephroblastoma in one of monozygous twins and in another sibling. 61 56
164771 1975
12
WT1 Disorder 6
32352694 2020
13
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 6
27854360 2017
14
Mutations in the transcriptional repressor REST predispose to Wilms tumor. 6
26551668 2015
15
Towards an understanding of kidney diseases associated with WT1 mutations. 61 24
26154924 2015
16
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 6
25356965 2015
17
Somatic mutations in DROSHA and DICER1 impair microRNA biogenesis through distinct mechanisms in Wilms tumours. 56
25190313 2014
18
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 6
23788249 2013
19
Discordant expression of a new WT1 gene mutation in a family with monozygotic twins presenting with congenital nephrotic syndrome. 61 24
21614510 2012
20
Wilms tumor cells with WT1 mutations have characteristic features of mesenchymal stem cells and express molecular markers of paraxial mesoderm. 56
20106868 2010
21
Constitutional translocation breakpoint mapping by genome-wide paired-end sequencing identifies HACE1 as a putative Wilms tumour susceptibility gene. 56
19948536 2010
22
Constitutional 11p15 abnormalities, including heritable imprinting center mutations, cause nonsyndromic Wilms tumor. 6
18836444 2008
23
An X chromosome gene, WTX, is commonly inactivated in Wilms tumor. 56
17204608 2007
24
Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2. 6
16825431 2007
25
Germline mutations of the POU6F2 gene in Wilms tumors with loss of heterozygosity on chromosome 7p14. 6
15459955 2004
26
Differential expression of a novel ankyrin containing E3 ubiquitin-protein ligase, Hace1, in sporadic Wilms' tumor versus normal kidney. 56
15254018 2004
27
Association of biallelic BRCA2/FANCD1 mutations with spontaneous chromosomal instability and solid tumors of childhood. 6
14670928 2004
28
Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. 6
15604628 2004
29
Wilms Tumor Predisposition 6
20301471 2003
30
PAX6-Related Aniridia 6
20301534 2003
31
Chromosome 1q expression profiling and relapse in Wilms' tumour. 56
12241781 2002
32
Refinement within single yeast artificial chromosome clones of a minimal region commonly deleted on the short arm of chromosome 7 in Wilms tumours. 6
11284034 2001
33
Absence of PPP2R1A mutations in Wilms tumor. 56
11360189 2001
34
Wilms' tumor and related abnormalities in the fetus and newborn. 56
10475544 1999
35
A zinc finger truncation of murine WT1 results in the characteristic urogenital abnormalities of Denys-Drash syndrome. 56
10077614 1999
36
Nephrogenic rests and the pathogenesis of Wilms tumor: developmental and clinical considerations. 56
9781906 1998
37
Linkage of familial Wilms' tumor predisposition to chromosome 19 and a two-locus model for the etiology of familial tumors. 56
9537236 1998
38
Loss of WT1 function leads to ectopic myogenesis in Wilms' tumour. 56
9425891 1998
39
A clinical overview of WT1 gene mutations. 6
9090524 1997
40
Familial Wilms' tumor associated with a WT1 zinc finger mutation. 6
8975729 1996
41
Evidence for a familial Wilms' tumour gene (FWT1) on chromosome 17q12-q21. 56
8696342 1996
42
[Hereditary renal tumors: Wilms' tumor--congenital anomalies' syndrome]. 56
8538037 1995
43
Absence of mutations in the WT1 gene in patients with XY gonadal dysgenesis. 56
7607640 1995
44
DNA binding capacity of the WT1 protein is abolished by Denys-Drash syndrome WT1 point mutations. 6
7795587 1995
45
Fine structure analysis of the WT1 gene in sporadic Wilms tumors. 56
8170946 1994
46
Inactivation of WT1 in nephrogenic rests, genetic precursors to Wilms' tumour. 56
8298644 1993
47
WT1-mediated growth suppression of Wilms tumor cells expressing a WT1 splicing variant. 56
8266105 1993
48
Altered trans-activational properties of a mutated WT1 gene product in a WAGR-associated Wilms' tumor. 56
8402654 1993
49
Evidence that WT1 mutations in Denys-Drash syndrome patients may act in a dominant-negative fashion. 6
8388765 1993
50
A dominant mutation in the Wilms tumor gene WT1 cooperates with the viral oncogene E1A in transformation of primary kidney cells. 56
1321431 1992

Variations for Wilms Tumor 1

ClinVar genetic disease variations for Wilms Tumor 1:

6 (show top 50) (show all 717) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 WT1 NM_024426.6(WT1):c.812del (p.Pro271fs)deletion Pathogenic 406680 rs1060501253 11:32449577-32449577 11:32428031-32428031
2 GPC3 NC_000023.10:g.(?_132795758)_(132888203_?)deldeletion Pathogenic 417449 X:132795758-132888203
3 WT1 NM_024426.6(WT1):c.1120C>T (p.Arg374Ter)SNV Pathogenic 449416 rs1423753702 11:32417947-32417947 11:32396401-32396401
4 WT1 NC_000011.10:g.(?_32396251)_(32417660_?)deldeletion Pathogenic 476672 11:32417797-32439206 11:32396251-32417660
5 WT1 NM_024426.6(WT1):c.592del (p.Ala198fs)deletion Pathogenic 429033 rs1131690795 11:32456315-32456315 11:32434769-32434769
6 WT1 NM_024426.6(WT1):c.880_882del (p.Tyr294del)deletion Pathogenic 438757 rs1554945033 11:32449507-32449509 11:32427961-32427963
7 CHEK2 NM_007194.4(CHEK2):c.1100_1101del (p.Thr367fs)deletion Pathogenic 438773 rs1555913934 22:29091856-29091857 22:28695868-28695869
8 WT1 NM_024426.6(WT1):c.334del (p.Asp112fs)deletion Pathogenic 476700 rs1554946600 11:32456573-32456573 11:32435027-32435027
9 WT1 NM_024426.6(WT1):c.682dup (p.Asp228fs)duplication Pathogenic 476713 rs1554945232 11:32450144-32450145 11:32428598-32428599
10 GPC3 NM_001164617.2(GPC3):c.629_654delinsCTTGCA (p.Asn210fs)indel Pathogenic 476661 rs1556297749 X:132887887-132887912 X:133753860-133753885
11 WT1 NC_000011.10:g.(?_32389058)_(32435345_?)deldeletion Pathogenic 543163 11:32410604-32456891 11:32389058-32435345
12 WT1 NM_024426.6(WT1):c.1149del (p.Val384fs)deletion Pathogenic 543120 rs1554939839 11:32417918-32417918 11:32396372-32396372
13 WT1 NM_024426.6(WT1):c.478C>T (p.Gln160Ter)SNV Pathogenic 543125 rs1554946500 11:32456429-32456429 11:32434883-32434883
14 WT1 NM_024426.6(WT1):c.653del (p.Arg218fs)deletion Pathogenic 571628 rs1565000973 11:32456254-32456254 11:32434708-32434708
15 GPC3 NM_004484.3(GPC3):c.1471G>T (p.Glu491Ter)SNV Pathogenic 565351 rs1569392947 X:132730570-132730570 X:133596542-133596542
16 WT1 NM_024426.6(WT1):c.472G>T (p.Glu158Ter)SNV Pathogenic 584762 rs1565001383 11:32456435-32456435 11:32434889-32434889
17 WT1 NM_024426.6(WT1):c.882C>A (p.Tyr294Ter)SNV Pathogenic 645008 11:32449507-32449507 11:32427961-32427961
18 GPC3 NM_004484.4(GPC3):c.513dup (p.Asp172Ter)duplication Pathogenic 664988 X:132888027-132888028 X:133754000-133754001
19 GPC3 NM_004484.3(GPC3):c.1307del (p.Ala436fs)deletion Pathogenic 575598 rs1569408743 X:132795864-132795864 X:133661836-133661836
20 GPC3 NC_000023.10:g.(?_132795738)_(133119496_?)deldeletion Pathogenic 583690 X:132795738-133119496
21 GPC3 NM_004484.4(GPC3):c.80dup (p.Pro28fs)duplication Pathogenic 656012 X:133119396-133119397 X:133985369-133985370
22 WT1 NC_000011.10:g.(?_32389048)_(32435355_?)deldeletion Pathogenic 665054 11:32410594-32456901 11:32389048-32435355
23 WT1 NC_000011.10:g.(?_32396247)_(32400054_?)deldeletion Pathogenic 833202 11:32417793-32421600
24 WT1 NC_000011.10:g.(?_32434690)_(32435345_?)deldeletion Pathogenic 833107 11:32456236-32456891
25 GPC3 NC_000023.10:g.(?_132670132)_(132888223_?)deldeletion Pathogenic 832421 X:132670132-132888223
26 GPC3 NC_000023.10:g.(?_132670146)_(133119482_?)deldeletion Pathogenic 830889 X:132670146-133119482
27 GPC3 NC_000023.10:g.(?_132838213)_(132888223_?)deldeletion Pathogenic 830784 X:132838213-132888223
28 GPC3 NC_000023.11:g.(?_133753472)_(133754186_?)deldeletion Pathogenic 832201 X:132887499-132888213
29 WT1 NM_024426.6(WT1):c.893_909del (p.Asn298fs)deletion Pathogenic 3484 rs587776573 11:32439179-32439195 11:32417633-32417649
30 WT1 NM_024426.6(WT1):c.1094del (p.Gly365fs)deletion Pathogenic 3485 rs587776574 11:32421513-32421513 11:32399967-32399967
31 WT1 NM_024426.6(WT1):c.1399C>T (p.Arg467Trp)SNV Pathogenic 3487 rs121907900 11:32413566-32413566 11:32392020-32392020
32 WT1 NM_024426.6(WT1):c.1447+5G>ASNV Pathogenic 3493 rs587776576 11:32413513-32413513 11:32391967-32391967
33 WT1 NM_024426.6(WT1):c.1387C>T (p.Arg463Ter)SNV Pathogenic 3494 rs121907909 11:32413578-32413578 11:32392032-32392032
34 WT1 NM_024426.6(WT1):c.1303C>T (p.Arg435Ter)SNV Pathogenic 3497 rs121907906 11:32414263-32414263 11:32392717-32392717
35 WT1 NM_024426.6(WT1):c.546C>A (p.Tyr182Ter)SNV Pathogenic 3506 rs121907911 11:32456361-32456361 11:32434815-32434815
36 BRCA2 NM_000059.3(BRCA2):c.658_659del (p.Val220fs)deletion Pathogenic 9342 rs80359604 13:32903605-32903606 13:32329468-32329469
37 BRCA2 NM_000059.4(BRCA2):c.5645C>G (p.Ser1882Ter)SNV Pathogenic 9346 rs80358785 13:32914137-32914137 13:32340000-32340000
38 GPC3 NM_004484.3(GPC3):c.595C>T (p.Arg199Ter)SNV Pathogenic 11689 rs104894855 X:132887946-132887946 X:133753919-133753919
39 GPC3 NM_004484.3(GPC3):c.361C>T (p.His121Tyr)SNV Pathogenic 11690 rs122453119 X:132888180-132888180 X:133754153-133754153
40 GPC3 NM_004484.3(GPC3):c.1705G>A (p.Ala569Thr)SNV Pathogenic 11691 rs122453120 X:132670190-132670190 X:133536162-133536162
41 GPC3 NM_001164617.2(GPC3):c.1228C>T (p.Arg410Ter)SNV Pathogenic 11694 rs122453121 X:132833930-132833930 X:133699902-133699902
42 BRCA2 NM_000059.4(BRCA2):c.3109C>T (p.Gln1037Ter)SNV Pathogenic 37819 rs80358557 13:32911601-32911601 13:32337464-32337464
43 BRCA2 NM_000059.3(BRCA2):c.4243G>T (p.Glu1415Ter)SNV Pathogenic 37890 rs397507327 13:32912735-32912735 13:32338598-32338598
44 BRCA2 NM_000059.4(BRCA2):c.4965C>G (p.Tyr1655Ter)SNV Pathogenic 37936 rs80358721 13:32913457-32913457 13:32339320-32339320
45 BRCA2 NM_000059.4(BRCA2):c.5682C>G (p.Tyr1894Ter)SNV Pathogenic 37989 rs41293497 13:32914174-32914174 13:32340037-32340037
46 BRCA2 NM_000059.4(BRCA2):c.6952C>T (p.Arg2318Ter)SNV Pathogenic 38076 rs80358920 13:32920978-32920978 13:32346841-32346841
47 BRCA2 NM_000059.4(BRCA2):c.7480C>T (p.Arg2494Ter)SNV Pathogenic 38099 rs80358972 13:32930609-32930609 13:32356472-32356472
48 BRCA2 NM_000059.4(BRCA2):c.8488-1G>ASNV Pathogenic 38164 rs397507404 13:32945092-32945092 13:32370955-32370955
49 BRCA2 NM_000059.4(BRCA2):c.100G>T (p.Glu34Ter)SNV Pathogenic 51041 rs80358391 13:32893246-32893246 13:32319109-32319109
50 BRCA2 NM_000059.3(BRCA2):c.1399A>T (p.Lys467Ter)SNV Pathogenic 51118 rs80358427 13:32907014-32907014 13:32332877-32332877

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

73
# 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

Cosmic variations for Wilms Tumor 1:

9 (show top 50) (show all 483)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM91365932 WT1 kidney,NS,Wilms tumour,bilateral c.1390G>A p.D464N 11:32392014-32392014 24
2 COSM91367987 WT1 kidney,NS,Wilms tumour,unilateral c.1288C>T p.R430* 11:32392717-32392717 24
3 COSM91368949 WT1 kidney,NS,Wilms tumour,unilateral c.1316A>G p.K439R 11:32392689-32392689 24
4 COSM91367517 WT1 kidney,NS,Wilms tumour,unilateral c.1384C>G p.R462G 11:32392020-32392020 24
5 COSM91370285 WT1 kidney,NS,Wilms tumour,unilateral c.1300C>T p.R434C 11:32392705-32392705 24
6 COSM91368875 WT1 kidney,NS,Wilms tumour,bilateral c.918G>A p.W306* 11:32417609-32417609 24
7 COSM91367527 WT1 kidney,NS,Wilms tumour,unilateral c.1105C>T p.R369* 11:32396401-32396401 24
8 COSM91365784 WT1 kidney,NS,Wilms tumour,unilateral c.1372C>T p.R458* 11:32392032-32392032 24
9 COSM91370116 WT1 kidney,NS,Wilms tumour,unilateral c.665T>C p.F222S 11:32428601-32428601 24
10 COSM91367655 WT1 kidney,NS,Wilms tumour,unilateral c.806G>A p.G269D 11:32428022-32428022 24
11 COSM91367314 WT1 kidney,NS,Wilms tumour,unilateral c.1217C>A p.S406Y 11:32396289-32396289 24
12 COSM91365956 WT1 kidney,NS,Wilms tumour,unilateral c.1384C>T p.R462W 11:32392020-32392020 24
13 COSM91372017 WT1 kidney,NS,Wilms tumour,unilateral c.1001A>G p.N334S 11:32416490-32416490 24
14 COSM88004535 TP53 kidney,NS,Wilms tumour,unilateral c.717C>G p.N239K 17:7674246-7674246 24
15 COSM87906185 TP53 kidney,NS,Wilms tumour,bilateral c.517G>T p.V173L 17:7675095-7675095 24
16 COSM85145945 SIX2 kidney,NS,Wilms tumour,bilateral c.530A>G p.Q177R 2:45008581-45008581 24
17 COSM84259048 SIX1 kidney,NS,Wilms tumour,bilateral c.530A>G p.Q177R 14:60648660-60648660 24
18 COSM90827029 PTCH1 kidney,NS,Wilms tumour,bilateral c.403C>T p.R135* 9:95485866-95485866 24
19 COSM89197987 MYCN kidney,NS,Wilms tumour,bilateral c.131C>T p.P44L 2:15942195-15942195 24
20 COSM125790494 DROSHA kidney,NS,Wilms tumour,bilateral c.3439G>A p.E1147K 5:31421358-31421358 24
21 COSM125791077 DROSHA kidney,NS,Wilms tumour,bilateral c.3452A>G p.D1151G 5:31421345-31421345 24
22 COSM91200466 DGCR8 kidney,NS,Wilms tumour,bilateral c.1552G>A p.E518K 22:20091916-20091916 24
23 COSM150913542 CTNNB1 kidney,NS,Wilms tumour,unilateral c.134C>T p.S45F 3:41224646-41224646 24
24 COSM150914165 CTNNB1 kidney,NS,Wilms tumour,bilateral c.121A>C p.T41P 3:41224633-41224633 24
25 COSM150913545 CTNNB1 kidney,NS,Wilms tumour,bilateral c.133T>C p.S45P 3:41224645-41224645 24
26 COSM150913963 CTNNB1 kidney,NS,Wilms tumour,bilateral c.107A>C p.H36P 3:41224619-41224619 24
27 COSM150913745 CTNNB1 kidney,NS,Wilms tumour,bilateral c.134C>G p.S45C 3:41224646-41224646 24
28 COSM150914444 CTNNB1 kidney,NS,Wilms tumour,unilateral c.134C>A p.S45Y 3:41224646-41224646 24
29 COSM150913536 CTNNB1 kidney,NS,Wilms tumour,bilateral c.121A>G p.T41A 3:41224633-41224633 24
30 COSM150915108 CTNNB1 kidney,NS,Wilms tumour,unilateral c.104T>C p.I35T 3:41224616-41224616 24
31 COSM89363149 AMER1 kidney,NS,Wilms tumour,unilateral c.565C>T p.Q189* 23:64192722-64192722 24
32 COSM89368668 AMER1 kidney,NS,Wilms tumour,unilateral c.85G>A p.A29T 23:64193202-64193202 24
33 COSM89368546 kidney,NS,Wilms tumour,bilateral c.134C>G p.S45C 3:41224646-41224646 24
34 COSM151307846 kidney,NS,Wilms tumour,unilateral c.134C>G p.S45C 3:41224646-41224646 24
35 COSM151812038 kidney,NS,Wilms tumour,unilateral c.134C>T p.S45F 3:41224646-41224646 24
36 COSM149383721 kidney,NS,Wilms tumour,bilateral c.133T>C p.S45P 3:41224645-41224645 24
37 COSM149480301 kidney,NS,Wilms tumour,bilateral c.133T>C p.S45P 3:41224645-41224645 24
38 COSM146242887 kidney,NS,Wilms tumour,bilateral c.133T>C p.S45P 3:41224645-41224645 24
39 COSM151345012 kidney,NS,Wilms tumour,unilateral c.113C>T p.S38F 3:41224646-41224646 24
40 COSM111036032 kidney,NS,Wilms tumour,bilateral c.134C>T p.S45F 3:41224646-41224646 24
41 COSM146867460 kidney,NS,Wilms tumour,bilateral c.134C>T p.S45F 3:41224646-41224646 24
42 COSM146867471 kidney,NS,Wilms tumour,bilateral c.133T>C p.S45P 3:41224645-41224645 24
43 COSM89368095 kidney,NS,Wilms tumour,bilateral c.133T>C p.S45P 3:41224645-41224645 24
44 COSM105723292 kidney,NS,Wilms tumour,unilateral c.717C>G p.N239K 17:7674246-7674246 24
45 COSM151748648 kidney,NS,Wilms tumour,bilateral c.133T>C p.S45P 3:41224645-41224645 24
46 COSM150659649 kidney,NS,Wilms tumour,bilateral c.134C>G p.S45C 3:41224646-41224646 24
47 COSM149957894 kidney,NS,Wilms tumour,bilateral c.113C>G p.S38C 3:41224646-41224646 24
48 COSM150452305 kidney,NS,Wilms tumour,bilateral c.133T>C p.S45P 3:41224645-41224645 24
49 COSM151325871 kidney,NS,Wilms tumour,bilateral c.112T>C p.S38P 3:41224645-41224645 24
50 COSM151591331 kidney,NS,Wilms tumour,bilateral c.133T>C p.S45P 3:41224645-41224645 24

Copy number variations for Wilms Tumor 1 from CNVD:

7
# CNVD ID Chromosome 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

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 9.72 WT1 TRIM28 REST CHEK2 BRCA2
2 oocyte maturation GO:0001556 9.37 TRIP13 BRCA2
3 double-strand break repair GO:0006302 9.33 TRIP13 CHEK2 BRCA2
4 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.26 CHEK2 BRCA2
5 regulation of protein localization to membrane GO:1905475 8.96 GPC4 GPC3
6 embryonic placenta morphogenesis GO:0060669 8.62 TRIM28 IGF2

Sources for Wilms Tumor 1

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