WT1
MCID: WLM013
MIFTS: 65

Wilms Tumor 1 (WT1)

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

Aliases & Classifications for Wilms Tumor 1

MalaCards integrated aliases for Wilms Tumor 1:

Name: Wilms Tumor 1 57 72 29 6
Nephroblastoma 57 12 20 43 58 36 29 6 15 70
Wilms Tumor 57 43 58 13 54 42 44 15 39
Wilms' Tumor 12 73 20 43
Wt1 57 20 72
Bilateral Wilms Tumor 20 70
Kidney, Adenomyosarcoma, Embryonal 43
Kidney, Carcinosarcoma, Embryonal 43
Nonanaplastic Kidney Wilms Tumor 70
Kidney, Embryonal Mixed Tumor 43
Childhood Kidney Wilms Tumor 70
Adult Kidney Wilms Tumor 70
Embryonal Adenosarcoma 43
Renal Embryonic Tumor 58
Wilms Tumor, Somatic 57
Adult Nephroblastoma 12
Wilms Tumor, Type 1 57
Renal Cancer, Wilms 43
Embryonal Nephroma 43
Kidney Wilms Tumor 43
Renal Adenosarcoma 43
Renal Wilms Tumor 43
Kidney, Embryoma 43
Wt1 Disorder 25
Tumor, Wilms 43
Nephroma 43

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®:

57 (Updated 20-May-2021)
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:

25
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® 57 194070
OMIM Phenotypic Series 57 PS194070
KEGG 36 H02301
MeSH 44 D009396
SNOMED-CT 67 25081006
MESH via Orphanet 45 D009396
ICD10 via Orphanet 33 C64
UMLS via Orphanet 71 C0027708
Orphanet 58 ORPHA654
MedGen 41 C0027708
UMLS 70 C0027708 C1332219 C1333015 more

Summaries for Wilms Tumor 1

GARD : 20 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).

MalaCards based summary : Wilms Tumor 1, also known as nephroblastoma, is related to nephrotic syndrome, type 4 and familial wilms tumor 2, 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.

MedlinePlus Genetics : 43 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.Wilms tumor is often first noticed because of abdominal swelling or a mass in the kidney that can be felt upon physical examination. Some affected children have abdominal pain, fever, a low number of red blood cells (anemia), blood in the urine (hematuria), or high blood pressure (hypertension). Additional signs of Wilms tumor can include loss of appetite, weight loss, nausea, vomiting, and tiredness (lethargy).Wilms tumor can develop in one or both kidneys. About 5 to 10 percent of affected individuals develop multiple tumors in one or both kidneys. Wilms tumor may spread from the kidneys to other parts of the body (metastasize). In rare cases, Wilms tumor does not involve the kidneys and occurs instead in the genital tract, bladder, abdomen, chest, or lower back. It is unclear how Wilms tumor develops in these tissues.With proper treatment, children with Wilms tumor have a 90 percent survival rate. However, the risk that the cancer will come back (recur) is between 15 and 50 percent, depending on traits of the original tumor. Tumors usually recur in the first 2 years following treatment and develop in the kidneys or other tissues, such as the lungs. Individuals who have had Wilms tumor may experience related health problems or late effects of their treatment in adulthood, such as decreased kidney function, heart disease, and development of additional cancers.

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 tumors 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) (Updated 20-May-2021)

MedlinePlus : 42 Wilms tumor is a rare type of kidney cancer. It causes a tumor on one or both kidneys. It usually affects children, but can happen in adults. Having certain genetic conditions or birth defects can increase the risk of getting it. Children that are at risk should be screened for Wilms tumor every three months until they turn eight. Symptoms include a lump in the abdomen, blood in the urine, and a fever for no reason. Tests that examine the kidney and blood are used to find the tumor. Doctors usually diagnose and remove the tumor in surgery. Other treatments include chemotherapy and radiation and biologic therapies. Biologic therapy boosts your body's own ability to fight cancer. NIH: National Cancer Institute

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 : 72 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 : 73 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 1005)
# Related Disease Score Top Affiliating Genes
1 nephrotic syndrome, type 4 32.9 WT1 LOC107982234
2 familial wilms tumor 2 32.7 WT1 LOC107982234 GPC3 BRCA2
3 simpson-golabi-behmel syndrome 32.6 GPC4 GPC3
4 meacham syndrome 32.4 WT1 LOC107982234
5 beckwith-wiedemann syndrome 32.4 WT1 MRPL23 MEG3 IGF2-AS IGF2 H19-ICR
6 osteogenic sarcoma 32.4 WT1 MEG3 IGF2 H19 CHEK2
7 wilms tumor 5 32.4 TRIM28 POU6F2 CHEK2 BRAF
8 li-fraumeni syndrome 32.3 IGF2 CHEK2 BRCA2
9 leiomyosarcoma 32.3 WT1 IGF2 CHEK2
10 wilms tumor predisposition 32.3 WT1 IGF2 H19-ICR H19 GPC4 GPC3
11 pax6-related aniridia 32.2 WT1 IGF2 H19 GPC4 GPC3 BRCA2
12 serous cystadenocarcinoma 32.1 WT1 BRCA2 BRAF
13 hemihyperplasia, isolated 32.1 WT1 IGF2 H19
14 ovary adenocarcinoma 32.0 WT1 BRCA2 BRAF
15 endosalpingiosis 32.0 WT1 BRCA2 BRAF
16 wilson-turner x-linked mental retardation syndrome 31.9 WT1 POU6F2 IGF2
17 ovarian gonadoblastoma 31.9 WT1 GPC3
18 liver leiomyosarcoma 31.9 WT1 GPC3
19 metanephric adenoma 31.8 WT1 BRAF
20 benign struma ovarii 31.7 WT1 BRAF
21 seminal vesicle adenocarcinoma 31.7 WT1 GPC3
22 mayer-rokitansky-kuster-hauser syndrome 31.7 WT1 H19
23 rhabdomyosarcoma 31.2 WT1 IGF2 H19 GPC3 CHEK2 BRCA2
24 glioma 31.2 MEG3 H19 BRCA2 BRAF
25 silver-russell syndrome 1 30.8 MEG3 IGF2-AS IGF2 H19
26 adrenal cortical carcinoma 30.6 IGF2 H19 BRAF
27 wilms tumor 2 30.5 MRPL23 KCNQ1DN H19-ICR H19
28 thyroid cancer, nonmedullary, 1 30.4 MEG3 H19 BRAF
29 choriocarcinoma 30.3 IGF2 H19 GPC3
30 global developmental delay, lung cysts, overgrowth, and wilms tumor 11.6
31 cervical wilms' tumor 11.5
32 wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome 11.4
33 wilms tumor 3 11.4
34 adult cystic nephroma 11.4
35 wilms tumor 4 11.3
36 blastema predominant kidney wilms' tumor 11.3
37 mixed cell type kidney wilms' tumor 11.3
38 adenomatoid tumor 11.2
39 metachronous kidney wilms' tumor 11.2
40 mulibrey nanism 11.2
41 mosaic variegated aneuploidy syndrome 1 11.2
42 hyperparathyroidism 2 with jaw tumors 11.2
43 mosaic variegated aneuploidy syndrome 3 11.2
44 megalencephaly-capillary malformation-polymicrogyria syndrome 11.2
45 mosaic variegated aneuploidy syndrome 11.2
46 hereditary wilms' tumor 11.2
47 classic congenital mesoblastic nephroma 11.2
48 frasier syndrome 11.2
49 46,xy sex reversal 11.1
50 breast cancer 11.1

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 hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0000822
4 fever 58 31 occasional (7.5%) Occasional (29-5%) HP:0001945
5 hematuria 58 31 occasional (7.5%) Occasional (29-5%) HP:0000790
6 weight loss 58 31 occasional (7.5%) Occasional (29-5%) HP:0001824
7 neoplasm of the lung 58 31 occasional (7.5%) Occasional (29-5%) HP:0100526
8 aniridia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000526
9 neoplasm of the liver 58 31 occasional (7.5%) Occasional (29-5%) HP:0002896
10 lymphadenopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002716
11 neoplasm 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Genitourinary Kidneys:
nephroblastoma

Neoplasia:
nephroblastoma

Clinical features from OMIM®:

194070 (Updated 20-May-2021)

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 152)
# 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
Epirubicin Approved Phase 4 56420-45-2 41867
5
Vincristine Approved, Investigational Phase 4 2068-78-2, 57-22-7 5978
6
Oxytetracycline Approved, Investigational, Vet_approved Phase 4 79-57-2 5280972 54715139
7
Doxorubicin Approved, Investigational Phase 4 23214-92-8 31703
8
Cyclophosphamide Approved, Investigational Phase 4 50-18-0, 6055-19-2 2907
9
Dactinomycin Approved, Investigational Phase 4 50-76-0 2019 457193
10
Pirarubicin Investigational Phase 4 72496-41-4
11 Hormones Phase 4
12 Hormone Antagonists Phase 4
13 Antifungal Agents Phase 4
14 Cytochrome P-450 CYP3A Inhibitors Phase 4
15
Hydroxyitraconazole Phase 4 108222
16 Cytochrome P-450 Enzyme Inhibitors Phase 4
17 Antirheumatic Agents Phase 4
18
Liposomal doxorubicin Phase 4 31703
19 Tubulin Modulators Phase 4
20 Immunosuppressive Agents Phase 4
21 Anti-Bacterial Agents Phase 4
22 Antimitotic Agents Phase 4
23 Antibiotics, Antitubercular Phase 4
24 Anti-Infective Agents Phase 4
25
Etoposide Approved Phase 3 33419-42-0 36462
26
Carboplatin Approved Phase 3 41575-94-4 10339178 498142 38904
27
Trimethoprim Approved, Vet_approved Phase 3 738-70-5 5578
28
Sulfamethoxazole Approved Phase 3 723-46-6 5329
29
Sargramostim Approved, Investigational Phase 3 123774-72-1, 83869-56-1
30
Lenograstim Approved, Investigational Phase 3 135968-09-1
31 Etoposide phosphate Phase 3
32 Calcium, Dietary Phase 3
33 Liver Extracts Phase 3
34 Cactinomycin Phase 3
35 Immunologic Factors Phase 3
36 Adjuvants, Immunologic Phase 3
37
Calcium Nutraceutical Phase 3 7440-70-2 271
38
Ifosfamide Approved Phase 2 3778-73-2 3690
39
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
40
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
41
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
42
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
43
Prednisolone acetate Approved, Vet_approved Phase 2 52-21-1
44
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
45
Etanercept Approved, Investigational Phase 2 185243-69-0
46
Sorafenib Approved, Investigational Phase 2 284461-73-0 216239 406563
47
Irinotecan Approved, Investigational Phase 2 97682-44-5, 100286-90-6 60838
48
Daunorubicin Approved Phase 2 20830-81-3 30323
49
Ivosidenib Approved, Investigational Phase 2 1448347-49-6 71657455
50
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030

Interventional clinical trials:

(show top 50) (show all 119)
# Name Status NCT ID Phase Drugs
1 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
2 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
3 Nephroblastoma Clinical Trial and Study Unknown status NCT00003804 Phase 3 vincristine sulfate
4 Nephroblastoma (Wilms Tumour) Clinical Trial And Study Unknown status NCT00047138 Phase 3 carboplatin;cyclophosphamide;doxorubicin hydrochloride;etoposide;vincristine sulfate
5 Treatment for Very Low and Standard Risk Favorable Histology Wilms Tumor Unknown status NCT00352534 Phase 3 vincristine sulfate;doxorubicin hydrochloride
6 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
7 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
8 NATIONAL WILMS TUMOR STUDY-5 -- THERAPEUTIC TRIAL AND BIOLOGY STUDY Completed NCT00002611 Phase 3 cyclophosphamide;doxorubicin hydrochloride;etoposide;vincristine sulfate
9 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
10 Treatment for Patients With Bilateral, Multicentric, or Bilaterally-Predisposed Unilateral Wilms Tumor Active, not recruiting NCT00945009 Phase 3 Doxorubicin Hydrochloride;Vincristine Sulfate
11 Treatment of Newly Diagnosed Higher Risk Favorable Histology Wilms Tumors Active, not recruiting NCT00379340 Phase 3 doxorubicin hydrochloride;liposomal vincristine sulfate;cyclophosphamide;etoposide
12 Prospective and Randomized Study of Fixed Versus Flexible Prophylactic Administration of Granulocyte Colony-Stimulating Factor (G-CSF) in Children With Cancer Terminated NCT01987596 Phase 3
13 A Randomized, Placebo-Controlled Pilot Study of Genistein Supplementation in Pediatric Cancer Patients Receiving Myelosuppressive Chemotherapy Unknown status NCT02624388 Phase 2 Genistein;Placebo
14 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
15 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
16 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
17 Wilm's Tumor 1 (WT1) Peptide Vaccination for Patients With High Risk Hematological Malignancies Completed NCT00433745 Phase 2 WT1 Peptide Vaccine
18 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
19 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
20 A Phase II Study of Topotecan in Children With Recurrent Wilms Tumor Completed NCT00187031 Phase 2 Topotecan, Filgrastim (G-CSF), Pegfilgrastim
21 Myeloablative Chemotherapy With Stem Cell Rescue for Rare Poor-Prognosis Cancers Completed NCT00141765 Phase 2
22 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
23 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
24 Phase II Liposomal Vincristine for Pediatric and Adolescent Patients With Relapsed Malignancies Completed NCT00038207 Phase 2 Liposomal Vincristine
25 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
26 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
27 Treatment of High Risk Renal Tumors: A Groupwide Phase II Study Completed NCT00335556 Phase 2 Doxorubicin Hydrochloride;Irinotecan Hydrochloride;Cyclophosphamide;Etoposide;Carboplatin;Vincristine Sulfate
28 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
29 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
30 Treatment of Newly Diagnosed Diffuse Anaplastic Wilms Tumors (DAWT) and Relapsed Favorable Histology Wilms Tumors (FHWT) Recruiting NCT04322318 Phase 2 Carboplatin;Cyclophosphamide;Doxorubicin;Etoposide;Ifosfamide;Irinotecan;Topotecan;Vincristine
31 NCI-COG Pediatric MATCH (Molecular Analysis for Therapy Choice) - Phase 2 Subprotocol of BVD-523FB (Ulixertinib) in Patients With Tumors Harboring Activating MAPK Pathway Mutations Recruiting NCT03698994 Phase 2 Ulixertinib
32 NCI-COG Pediatric MATCH (Molecular Analysis for Therapy Choice)- Phase 2 Subprotocol of Tipifarnib in Patients With Tumors Harboring HRAS Genomic Alterations Recruiting NCT04284774 Phase 2 Tipifarnib
33 NCI-COG Pediatric MATCH (Molecular Analysis for Therapy Choice) - Phase 2 Subprotocol of LOXO-292 in Patients With Tumors Harboring RET Gene Alterations Recruiting NCT04320888 Phase 2 Selpercatinib
34 NCI-COG Pediatric MATCH (Molecular Analysis for Therapy Choice) - Phase 2 Subprotocol of AG-120 (Ivosidenib) in Patients With Tumors Harboring IDH1 Mutations Recruiting NCT04195555 Phase 2 Ivosidenib
35 NCI-COG Pediatric MATCH (Molecular Analysis for Therapy Choice) - Phase 2 Subprotocol of Palbociclib in Patients With Tumors Harboring Activating Alterations in Cell Cycle Genes Recruiting NCT03526250 Phase 2 Palbociclib
36 NCI-COG Pediatric MATCH (Molecular Analysis for Therapy Choice)- Phase 2 Subprotocol of Olaparib in Patients With Tumors Harboring Defects in DNA Damage Repair Genes Recruiting NCT03233204 Phase 2 Olaparib
37 NCI-COG Pediatric MATCH (Molecular Analysis for Therapy Choice)- Phase 2 Subprotocol of Vemurafenib in Patients With Tumors Harboring BRAF V600 Mutations Recruiting NCT03220035 Phase 2 Vemurafenib
38 NCI-COG Pediatric MATCH (Molecular Analysis for Therapy Choice) - Phase 2 Subprotocol of LOXO-101 (Larotrectinib) in Patients With Tumors Harboring Actionable NTRK Fusions Recruiting NCT03213704 Phase 2 Larotrectinib;Larotrectinib Sulfate
39 NCI-COG Pediatric MATCH (Molecular Analysis For Therapy Choice)- Phase 2 Subprotocol of LY3023414 in Patients With Solid Tumors Recruiting NCT03213678 Phase 2 Samotolisib
40 NCI-COG Pediatric MATCH (Molecular Analysis for Therapy Choice)- Phase 2 Subprotocol of Ensartinib in Patients With Tumors Harboring ALK or ROS1 Genomic Alterations Recruiting NCT03213652 Phase 2 Ensartinib
41 NCI-COG Pediatric MATCH (Molecular Analysis for Therapy Choice) - Phase 2 Subprotocol of JNJ-42756493 (Erdafitinib) in Patients With Tumors Harboring FGFR1/2/3/4 Alterations Recruiting NCT03210714 Phase 2 Erdafitinib
42 NCI-COG Pediatric MATCH (Molecular Analysis for Therapy Choice) Screening Protocol Recruiting NCT03155620 Phase 2 Ensartinib;Erdafitinib;Larotrectinib;Olaparib;Palbociclib;Samotolisib;Selpercatinib;Selumetinib Sulfate;Tazemetostat;Tipifarnib;Ulixertinib;Vemurafenib
43 Wilms' Tumor (WT1) Antigen-targeted Dendritic Cell Vaccination to Prevent Relapse in Adult Patients With Acute Myeloid Leukemia: a Multicenter Randomized Phase II Trial Recruiting NCT01686334 Phase 2
44 First-line Immunotherapy Using Wilms' Tumor Protein 1 (WT1)-Targeted Dendritic Cell Vaccinations for Malignant Pleural Mesothelioma Recruiting NCT02649829 Phase 1, Phase 2
45 An Open-Label, Multi-Center Trial of INO-5401 and INO-9012 Delivered by Electroporation (EP) in Combination With REGN2810 in Subjects With Newly-Diagnosed Glioblastoma (GBM) Active, not recruiting NCT03491683 Phase 1, Phase 2 Temozolomide
46 An Open-Label, Multi-Center Trial of INO-5401 + INO-9012 in Combination With Atezolizumab in Subjects With Locally Advanced Unresectable or Metastatic/Recurrent Urothelial Carcinoma Active, not recruiting NCT03502785 Phase 1, Phase 2 Atezolizumab
47 Phase 2 Trial of XL184 (Cabozantinib) an Oral Small-Molecule Inhibitor of Multiple Kinases, in Children and Young Adults With Refractory Sarcomas, Wilms Tumor, and Other Rare Tumors Active, not recruiting NCT02867592 Phase 2 Cabozantinib;Cabozantinib S-malate
48 A Phase 2 Study of IMGN901 (Lorvotuzumab Mertansine; NSC#: 783609) in Children With Relapsed or Refractory Wilms Tumor, Rhabdomyosarcoma, Neuroblastoma, Pleuropulmonary Blastoma, Malignant Peripheral Nerve Sheath Tumor (MPNST) and Synovial Sarcoma Active, not recruiting NCT02452554 Phase 2
49 Stereotactic Body Radiotherapy (SBRT) for Pulmonary Metastases in Ewing Sarcoma, Rhabdomyosarcoma, and Wilms Tumors Active, not recruiting NCT02581384 Phase 1, Phase 2
50 Personalized Risk-Adapted Therapy in Post-Pubertal Patients With Newly-Diagnosed Medulloblastoma (PersoMed-I) Not yet recruiting NCT04402073 Phase 2 Sonidegib;Cisplatin;Lomustine;Vincristine

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, Liver, Breast, Lung, Bone, Ovary

Publications for Wilms Tumor 1

Articles related to Wilms Tumor 1:

(show top 50) (show all 3257)
# Title Authors PMID Year
1
Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome. 6 25 54 61
1655284 1991
2
Vertical transmission of a mutation in exon 1 of the WT1 gene: lessons for genetic counseling. 57 6
18688870 2008
3
Biallelic BRCA2 mutations are associated with multiple malignancies in childhood including familial Wilms tumour. 6 57
15689453 2005
4
Somatic glypican 3 (GPC3) mutations in Wilms' tumour. 57 6
12085187 2002
5
Correlation of germ-line mutations and two-hit inactivation of the WT1 gene with Wilms tumors of stromal-predominant histology. 57 6
9108089 1997
6
Genotype-phenotype analysis of pediatric patients with WT1 glomerulopathy. 25 6
27300205 2017
7
Clinical and molecular characterization of patients with heterozygous mutations in wilms tumor suppressor gene 1. 6 25
25818337 2015
8
WT1 mutations in Meacham syndrome suggest a coelomic mesothelial origin of the cardiac and diaphragmatic malformations. 25 6
17853480 2007
9
Donor splice-site mutations in WT1 are responsible for Frasier syndrome. 6 25
9398852 1997
10
Embryonal precursors of Wilms tumor. 61 57
31806814 2019
11
Lack of puberty despite elevated estradiol in a 46,XY phenotypic female with Frasier syndrome. 6 61
16717397 2006
12
Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of genotype/phenotype correlations by use of a computerized mutation database. 54 6
9529364 1998
13
WT1-mediated growth suppression of Wilms tumor cells expressing a WT1 splicing variant. 57 54
8266105 1993
14
Intragenic homozygous deletion of the WT1 gene in Wilms' tumor. 6 54
1350671 1992
15
Pax-2 is a DNA-binding protein expressed in embryonic kidney and Wilms tumor. 57 54
1311084 1992
16
Introduction of a normal human chromosome 11 into a Wilms' tumor cell line controls its tumorigenic expression. 57 61
3031816 1987
17
Insulin-like growth factor-II gene expression in Wilms' tumour and embryonic tissues. 61 57
2995818 1985
18
Del11p13/nephroblastoma without aniridia. 57 61
6092262 1984
19
The c-Ha-ras1, insulin and beta-globin loci map outside the deletion associated with aniridia-Wilms' tumour. 57 61
6312329 1983
20
Glomerulonephritis associated with male pseudohermaphroditism and nephroblastoma. 61 57
6307071 1983
21
Familial occurrence of Wilms' tumor: nephroblastoma in one of monozygous twins and in another sibling. 61 57
164771 1975
22
TRIM28 congenital predisposition to Wilms' tumor: novel mutations and presentation in a sibling pair. 6
32699065 2020
23
Comprehensive genetic diagnosis of Japanese patients with severe proteinuria. 6
31937884 2020
24
Detailed clinical manifestations at onset and prognosis of neonatal-onset Denys-Drash syndrome and congenital nephrotic syndrome of the Finnish type. 6
30963316 2019
25
Long-term outcomes and molecular analysis of a large cohort of patients with 46,XY disorder of sex development due to partial gonadal dysgenesis. 6
29668062 2018
26
Early recognition of gonadal dysgenesis in congenital nephrotic syndrome
. 6
27719739 2016
27
Mutations in the transcriptional repressor REST predispose to Wilms tumor. 6
26551668 2015
28
Towards an understanding of kidney diseases associated with WT1 mutations. 61 25
26154924 2015
29
Germline rearrangements in families with strong family history of glioma and malignant melanoma, colon, and breast cancer. 6
24723567 2014
30
Somatic mutations in DROSHA and DICER1 impair microRNA biogenesis through distinct mechanisms in Wilms tumours. 57
25190313 2014
31
Somatic CTNNB1 mutation in hepatoblastoma from a patient with Simpson-Golabi-Behmel syndrome and germline GPC3 mutation. 6
24459012 2014
32
A familial WT1 mutation associated with incomplete Denys-Drash syndrome. 6
23715653 2013
33
A review of the clinical and genetic aspects of aniridia. 6
24138039 2013
34
Genetic screening in adolescents with steroid-resistant nephrotic syndrome. 6
23515051 2013
35
Excess breast cancer risk in first degree relatives of CHEK2∗1100delC positive familial breast cancer cases. 6
23415889 2013
36
Whole exome sequencing suggests much of non-BRCA1/BRCA2 familial breast cancer is due to moderate and low penetrance susceptibility alleles. 6
23409019 2013
37
WT1, WTX and CTNNB1 mutation analysis in 43 patients with sporadic Wilms' tumor. 6
23117548 2013
38
BRCA1, TP53, and CHEK2 germline mutations in uterine serous carcinoma. 6
22811390 2013
39
CHEK2 1100DELC germline mutation: a frequency study in hereditary breast and colon cancer Brazilian families. 6
23329222 2012
40
CHEK2*1100delC heterozygosity in women with breast cancer associated with early death, breast cancer-specific death, and increased risk of a second breast cancer. 6
23109706 2012
41
Breast carcinoma and Lynch syndrome: molecular analysis of tumors arising in mutation carriers, non-carriers, and sporadic cases. 6
22691310 2012
42
Frequency of the CHEK2 1100delC mutation among women with early-onset and bilateral breast cancer. 6
22520019 2012
43
A risk of essential thrombocythemia in carriers of constitutional CHEK2 gene mutations. 6
22058216 2012
44
CHEK2*1100delC and risk of malignant melanoma: Danish and German studies and meta-analysis. 6
21956126 2012
45
CHEK2 1100delC variant and breast cancer risk in Caucasians: a meta-analysis based on 25 studies with 29,154 cases and 37,064 controls. 6
22994785 2012
46
Discordant expression of a new WT1 gene mutation in a family with monozygotic twins presenting with congenital nephrotic syndrome. 25 61
21614510 2012
47
CHEK2*1100delC homozygosity is associated with a high breast cancer risk in women. 6
22058428 2011
48
Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. 6
22006311 2011
49
Familial Simpson-Golabi-Behmel syndrome: studies of X-chromosome inactivation and clinical phenotypes in two female individuals with GPC3 mutations. 6
20950395 2011
50
Risk of breast cancer in women with a CHEK2 mutation with and without a family history of breast cancer. 6
21876083 2011

Variations for Wilms Tumor 1

ClinVar genetic disease variations for Wilms Tumor 1:

6 (show top 50) (show all 1078)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CTNNB1 NM_001904.4(CTNNB1):c.770C>T (p.Thr257Ile) SNV other 438758 rs1553630452 GRCh37: 3:41267186-41267186
GRCh38: 3:41225695-41225695
2 CTNNB1 NM_001904.4(CTNNB1):c.133_135del (p.Ser45del) Deletion other 17576 rs587776850 GRCh37: 3:41266136-41266138
GRCh38: 3:41224643-41224645
3 TET2-AS1 , TET2 NM_001127208.2(TET2):c.4456T>C (p.Ser1486Pro) SNV other 438791 rs1553918194 GRCh37: 4:106193994-106193994
GRCh38: 4:105272837-105272837
4 MED12 NM_005120.3(MED12):c.131G>A (p.Gly44Asp) SNV other 92220 rs199469672 GRCh37: X:70339254-70339254
GRCh38: X:71119404-71119404
5 FZD6 NM_003506.4(FZD6):c.346C>T (p.Arg116Ter) SNV other 438765 rs769116796 GRCh37: 8:104330986-104330986
GRCh38: 8:103318758-103318758
6 CTNNB1 NM_001904.4(CTNNB1):c.134C>T (p.Ser45Phe) SNV other 17588 rs121913409 GRCh37: 3:41266137-41266137
GRCh38: 3:41224646-41224646
7 BRCA2 NM_000059.4(BRCA2):c.658_659del Deletion Pathogenic 9342 rs80359604 GRCh37: 13:32903605-32903606
GRCh38: 13:32329468-32329469
8 BRCA2 NM_000059.4(BRCA2):c.5645C>G (p.Ser1882Ter) SNV Pathogenic 9346 rs80358785 GRCh37: 13:32914137-32914137
GRCh38: 13:32340000-32340000
9 BRCA2 NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=) SNV Pathogenic 38215 rs28897756 GRCh37: 13:32954050-32954050
GRCh38: 13:32379913-32379913
10 GPC3 NM_004484.4(GPC3):c.460_463dup (p.Tyr155fs) Microsatellite Pathogenic 940806 GRCh37: X:132888077-132888078
GRCh38: X:133754050-133754051
11 WT1 NM_024426.6(WT1):c.1316G>A (p.Arg439His) SNV Pathogenic 3488 rs121907901 GRCh37: 11:32414250-32414250
GRCh38: 11:32392704-32392704
12 BRCA2 NM_000059.4(BRCA2):c.145G>T (p.Glu49Ter) SNV Pathogenic 51129 rs80358435 GRCh37: 13:32893291-32893291
GRCh38: 13:32319154-32319154
13 BRCA2 NM_000059.4(BRCA2):c.92G>A (p.Trp31Ter) SNV Pathogenic 52808 rs397508045 GRCh37: 13:32893238-32893238
GRCh38: 13:32319101-32319101
14 BRCA2 NM_000059.4(BRCA2):c.100G>T (p.Glu34Ter) SNV Pathogenic 51041 rs80358391 GRCh37: 13:32893246-32893246
GRCh38: 13:32319109-32319109
15 BRCA2 NM_000059.4(BRCA2):c.3109C>T (p.Gln1037Ter) SNV Pathogenic 37819 rs80358557 GRCh37: 13:32911601-32911601
GRCh38: 13:32337464-32337464
16 BRCA2 NM_000059.4(BRCA2):c.4965C>G (p.Tyr1655Ter) SNV Pathogenic 37936 rs80358721 GRCh37: 13:32913457-32913457
GRCh38: 13:32339320-32339320
17 BRCA2 NM_000059.4(BRCA2):c.6952C>T (p.Arg2318Ter) SNV Pathogenic 38076 rs80358920 GRCh37: 13:32920978-32920978
GRCh38: 13:32346841-32346841
18 BRCA2 NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=) SNV Pathogenic 38215 rs28897756 GRCh37: 13:32954050-32954050
GRCh38: 13:32379913-32379913
19 BRCA2 NM_000059.4(BRCA2):c.5682C>G (p.Tyr1894Ter) SNV Pathogenic 37989 rs41293497 GRCh37: 13:32914174-32914174
GRCh38: 13:32340037-32340037
20 BRCA2 NM_000059.4(BRCA2):c.7480C>T (p.Arg2494Ter) SNV Pathogenic 38099 rs80358972 GRCh37: 13:32930609-32930609
GRCh38: 13:32356472-32356472
21 WT1 NM_024426.6(WT1):c.1447+5G>A SNV Pathogenic 3493 rs587776576 GRCh37: 11:32413513-32413513
GRCh38: 11:32391967-32391967
22 BRCA2 NM_000059.3(BRCA2):c.4243G>T (p.Glu1415Ter) SNV Pathogenic 37890 rs397507327 GRCh37: 13:32912735-32912735
GRCh38: 13:32338598-32338598
23 BRCA2 NM_000059.4(BRCA2):c.6656C>G (p.Ser2219Ter) SNV Pathogenic 52149 rs80358893 GRCh37: 13:32915148-32915148
GRCh38: 13:32341011-32341011
24 BRCA2 NM_000059.4(BRCA2):c.7879A>T (p.Ile2627Phe) SNV Pathogenic 52430 rs80359014 GRCh37: 13:32936733-32936733
GRCh38: 13:32362596-32362596
25 BRCA2 NM_000059.4(BRCA2):c.7988A>T (p.Glu2663Val) SNV Pathogenic 52462 rs80359031 GRCh37: 13:32937327-32937327
GRCh38: 13:32363190-32363190
26 BRCA2 NM_000059.4(BRCA2):c.8167G>C (p.Asp2723His) SNV Pathogenic 52515 rs41293511 GRCh37: 13:32937506-32937506
GRCh38: 13:32363369-32363369
27 BRCA2 NM_000059.4(BRCA2):c.8488-1G>A SNV Pathogenic 38164 rs397507404 GRCh37: 13:32945092-32945092
GRCh38: 13:32370955-32370955
28 BRCA2 NM_000059.4(BRCA2):c.9294C>G (p.Tyr3098Ter) SNV Pathogenic 38229 rs80359200 GRCh37: 13:32968863-32968863
GRCh38: 13:32394726-32394726
29 BRCA2 NM_000059.4(BRCA2):c.9382C>T (p.Arg3128Ter) SNV Pathogenic 52826 rs80359212 GRCh37: 13:32968951-32968951
GRCh38: 13:32394814-32394814
30 BRCA2 NM_000059.4(BRCA2):c.5857G>T (p.Glu1953Ter) SNV Pathogenic 51952 rs80358814 GRCh37: 13:32914349-32914349
GRCh38: 13:32340212-32340212
31 BRAF NM_001374258.1(BRAF):c.1919T>A (p.Val640Glu) SNV Pathogenic 13961 rs113488022 GRCh37: 7:140453136-140453136
GRCh38: 7:140753336-140753336
32 WT1 NM_024426.6(WT1):c.1447+5G>A SNV Pathogenic 3493 rs587776576 GRCh37: 11:32413513-32413513
GRCh38: 11:32391967-32391967
33 GPC3 NC_000023.10:g.(?_132838213)_(132888223_?)del Deletion Pathogenic 830784 GRCh37: X:132838213-132888223
GRCh38:
34 GPC3 NC_000023.10:g.(?_132670146)_(133119482_?)del Deletion Pathogenic 830889 GRCh37: X:132670146-133119482
GRCh38:
35 GPC3 NC_000023.11:g.(?_133753472)_(133754186_?)del Deletion Pathogenic 832201 GRCh37: X:132887499-132888213
GRCh38:
36 GPC3 NC_000023.10:g.(?_132670132)_(132888223_?)del Deletion Pathogenic 832421 GRCh37: X:132670132-132888223
GRCh38:
37 WT1 NC_000011.10:g.(?_32434690)_(32435345_?)del Deletion Pathogenic 833107 GRCh37: 11:32456236-32456891
GRCh38:
38 WT1 NC_000011.10:g.(?_32396247)_(32400054_?)del Deletion Pathogenic 833202 GRCh37: 11:32417793-32421600
GRCh38:
39 GPC3 NM_004484.4(GPC3):c.256C>T (p.Arg86Ter) SNV Pathogenic 935437 GRCh37: X:133087158-133087158
GRCh38: X:133953131-133953131
40 GPC3 NM_004484.4(GPC3):c.271C>T (p.Gln91Ter) SNV Pathogenic 941300 GRCh37: X:133087143-133087143
GRCh38: X:133953116-133953116
41 GPC3 NM_004484.4(GPC3):c.1269G>A (p.Trp423Ter) SNV Pathogenic 941417 GRCh37: X:132826420-132826420
GRCh38: X:133692392-133692392
42 WT1 NM_024426.6(WT1):c.1447+4C>T SNV Pathogenic 3500 rs587776577 GRCh37: 11:32413514-32413514
GRCh38: 11:32391968-32391968
43 WT1 NM_024426.6(WT1):c.897del (p.Leu299fs) Deletion Pathogenic 958253 GRCh37: 11:32439191-32439191
GRCh38: 11:32417645-32417645
44 WT1 NM_024426.6(WT1):c.1399C>T (p.Arg467Trp) SNV Pathogenic 3487 rs121907900 GRCh37: 11:32413566-32413566
GRCh38: 11:32392020-32392020
45 WT1 NM_024426.6(WT1):c.1447+4C>T SNV Pathogenic 3500 rs587776577 GRCh37: 11:32413514-32413514
GRCh38: 11:32391968-32391968
46 POU6F2 POU6F2, C-G, EXON 1C, 5-PRIME UTR SNV Pathogenic 1872 GRCh37:
GRCh38:
47 POU6F2 NM_007252.4(POU6F2):c.573G>T (p.Gln191His) SNV Pathogenic 1871 rs121918261 GRCh37: 7:39379302-39379302
GRCh38: 7:39339703-39339703
48 GPC3 NM_004484.3(GPC3):c.1574-?_*379+?del Deletion Pathogenic 239938 GRCh37:
GRCh38:
49 TRIM28 NM_005762.3(TRIM28):c.2101C>T (p.Gln701Ter) SNV Pathogenic 973190 GRCh37: 19:59061222-59061222
GRCh38: 19:58549855-58549855
50 CHEK2 NM_007194.4(CHEK2):c.1100_1101del (p.Thr367fs) Deletion Pathogenic 438773 rs1555913934 GRCh37: 22:29091856-29091857
GRCh38: 22:28695868-28695869

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

72
# 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

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 double-strand break repair GO:0006302 9.33 TRIP13 CHEK2 BRCA2
2 oocyte maturation GO:0001556 9.32 TRIP13 BRCA2
3 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.26 CHEK2 BRCA2
4 regulation of protein localization to membrane GO:1905475 8.96 GPC4 GPC3
5 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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