WT5
MCID: WLM018
MIFTS: 54

Wilms Tumor 5 (WT5)

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

Aliases & Classifications for Wilms Tumor 5

MalaCards integrated aliases for Wilms Tumor 5:

Name: Wilms Tumor 5 57 20 29 6
Wilms Tumor Susceptibility-5 57 29 13
Wt5 57 20 72
Wilms Tumor and Radial Bilateral Aplasia 20 70
Hereditary Susceptibility to Wilms Tumor 5 72
Bilateral Radial Aplasia with Wilms Tumor 20
Wilms Tumor, Susceptibility to 57
Wilms Tumor, Type 5 39
Wilms Tumor ; Wtsl 57
Nephroblastoma 70
Wilm's Tumor 6
Wtsl 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
somatic mutation
autosomal dominant

Miscellaneous:
most cases are sporadic
tumor suppressor gene


HPO:

31

Classifications:



External Ids:

OMIM® 57 601583
OMIM Phenotypic Series 57 PS194070
MedGen 41 C1832099
UMLS 70 C0027708 C1832099

Summaries for Wilms Tumor 5

UniProtKB/Swiss-Prot : 72 Hereditary susceptibility to Wilms tumor 5: Pediatric malignancy of kidney and one of the most common solid cancers in childhood.

MalaCards based summary : Wilms Tumor 5, also known as wilms tumor susceptibility-5, is related to wilms tumor 1 and wilms tumor 6, and has symptoms including abdominal pain An important gene associated with Wilms Tumor 5 is POU6F2 (POU Class 6 Homeobox 2), and among its related pathways/superpathways are Integrated Breast Cancer Pathway and Corticotropin-releasing hormone signaling pathway. The drugs Cyclophosphamide and Vincristine have been mentioned in the context of this disorder. Affiliated tissues include breast, myeloid and bone marrow, and related phenotypes are nephroblastoma and Decreased substrate adherent cell growth

More information from OMIM: 601583 PS194070

Related Diseases for Wilms Tumor 5

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 5 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 72)
# Related Disease Score Top Affiliating Genes
1 wilms tumor 1 29.0 TRIM28 POU6F2 DIS3L2 CHEK2 BRAF
2 wilms tumor 6 11.3
3 renal wilms' tumor 11.1
4 bohring-opitz syndrome 11.1
5 mosaic variegated aneuploidy syndrome 11.1
6 aniridia 1 10.4
7 neuroblastoma 10.1
8 leukemia, acute myeloid 10.1
9 myelodysplastic syndrome 10.1
10 von willebrand's disease 10.1
11 teratoma 10.1
12 embryoma 10.1
13 myeloid leukemia 10.1
14 pulmonary embolism 10.1
15 sacrococcygeal teratoma 10.1
16 colorectal cancer 9.9
17 diaphragmatic hernia, congenital 9.9
18 thyroid cancer, nonmedullary, 1 9.9
19 renal hypodysplasia/aplasia 1 9.9
20 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 9.9
21 type 1 diabetes mellitus 9.9
22 budd-chiari syndrome 9.9
23 lymphangioleiomyomatosis 9.9
24 leukemia, chronic myeloid 9.9
25 microvascular complications of diabetes 3 9.9
26 microvascular complications of diabetes 4 9.9
27 microvascular complications of diabetes 6 9.9
28 microvascular complications of diabetes 7 9.9
29 neuroblastoma 6 9.9
30 gastric cancer 9.9
31 cholangiocarcinoma 9.9
32 proteinuria, chronic benign 9.9
33 hepatic veno-occlusive disease 9.9
34 adenoid cystic carcinoma 9.9
35 nephroma 9.9
36 acquired von willebrand syndrome 9.9
37 pulmonary edema 9.9
38 hemopericardium 9.9
39 pericardial effusion 9.9
40 conn's syndrome 9.9
41 femoral vein thrombophlebitis 9.9
42 varicocele 9.9
43 leukemia 9.9
44 capillary leak syndrome 9.9
45 pneumothorax 9.9
46 hepatitis c 9.9
47 fallopian tube carcinoma 9.9
48 post-traumatic stress disorder 9.9
49 hematologic cancer 9.9
50 testicular cancer 9.9

Graphical network of the top 20 diseases related to Wilms Tumor 5:



Diseases related to Wilms Tumor 5

Symptoms & Phenotypes for Wilms Tumor 5

Human phenotypes related to Wilms Tumor 5:

31
# Description HPO Frequency HPO Source Accession
1 nephroblastoma 31 HP:0002667

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Genitourinary Kidneys:
nephroblastoma (wilms tumor)

Neoplasia:
nephroblastoma (wilms tumor)

Clinical features from OMIM®:

601583 (Updated 05-Apr-2021)

UMLS symptoms related to Wilms Tumor 5:


abdominal pain

GenomeRNAi Phenotypes related to Wilms Tumor 5 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased substrate adherent cell growth GR00193-A-3 9.56 BRAF CHEK2
2 Decreased substrate adherent cell growth GR00193-A-4 9.56 BRAF CHEK2
3 Decreased human cytomegalovirus (HCMV) strain AD169 replication GR00248-A 9.33 BRAF CHEK2 TRIM28
4 Decreased viability GR00055-A-1 9.23 BRAF TRIM28
5 Decreased viability GR00055-A-2 9.23 BRAF TRIM28
6 Decreased viability GR00221-A-4 9.23 BRAF
7 Decreased viability GR00249-S 9.23 BRAF
8 Decreased viability GR00301-A 9.23 BRAF
9 Decreased viability GR00381-A-1 9.23 BRAF

Drugs & Therapeutics for Wilms Tumor 5

Drugs for Wilms Tumor 5 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 72)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cyclophosphamide Approved, Investigational Phase 4 50-18-0, 6055-19-2 2907
2
Vincristine Approved, Investigational Phase 4 2068-78-2, 57-22-7 5978
3
Epirubicin Approved Phase 4 56420-45-2 41867
4
Doxorubicin Approved, Investigational Phase 4 23214-92-8 31703
5
Dactinomycin Approved, Investigational Phase 4 50-76-0 2019 457193
6
Oxytetracycline Approved, Investigational, Vet_approved Phase 4 79-57-2 5280972 54715139
7
Pirarubicin Investigational Phase 4 72496-41-4
8 Alkylating Agents Phase 4
9 Immunosuppressive Agents Phase 4
10 Immunologic Factors Phase 4
11 Antirheumatic Agents Phase 4
12 Tubulin Modulators Phase 4
13
Liposomal doxorubicin Phase 4 31703
14 Antibiotics, Antitubercular Phase 4
15 Antimitotic Agents Phase 4
16 Anti-Bacterial Agents Phase 4
17 Anti-Infective Agents Phase 4
18
Carboplatin Approved Phase 3 41575-94-4 10339178 498142 38904
19
Sargramostim Approved, Investigational Phase 3 123774-72-1, 83869-56-1
20
Sulfamethoxazole Approved Phase 3 723-46-6 5329
21
Lenograstim Approved, Investigational Phase 3 135968-09-1
22
Trimethoprim Approved, Vet_approved Phase 3 738-70-5 5578
23
Etoposide Approved Phase 3 33419-42-0 36462
24
Molgramostim Investigational Phase 3 99283-10-0
25 Adjuvants, Immunologic Phase 3
26 Liver Extracts Phase 3
27 Etoposide phosphate Phase 3
28 Cactinomycin Phase 3
29
Mesna Approved, Investigational Phase 1, Phase 2 3375-50-6 598
30
Melphalan Approved Phase 1, Phase 2 148-82-3 4053 460612
31
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
32
Sorafenib Approved, Investigational Phase 2 284461-73-0 216239 406563
33
Topotecan Approved, Investigational Phase 2 123948-87-8, 119413-54-6 60700
34
Daunorubicin Approved Phase 2 20830-81-3 30323
35
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
36
Irinotecan Approved, Investigational Phase 2 100286-90-6, 97682-44-5 60838
37
Ifosfamide Approved Phase 2 3778-73-2 3690
38
Pemetrexed Approved, Investigational Phase 1, Phase 2 150399-23-8, 137281-23-3 60843 446556
39
Atezolizumab Approved, Investigational Phase 1, Phase 2 1380723-44-3
40
Cemiplimab Approved, Investigational Phase 1, Phase 2 1801342-60-8
41
Temozolomide Approved, Investigational Phase 1, Phase 2 85622-93-1 5394
42
Adenosine Approved, Investigational Phase 2 58-61-7 60961
43
Trastuzumab Approved, Investigational Phase 2 180288-69-1 9903
44
Cisplatin Approved Phase 2 15663-27-1 84093 441203 2767
45
Lomustine Approved, Investigational Phase 2 13010-47-4 3950
46
Tretinoin Approved, Investigational, Nutraceutical Phase 2 302-79-4 444795 5538
47
Tyrosine Approved, Investigational, Nutraceutical Phase 2 60-18-4 6057
48
Lorvotuzumab mertansine Investigational Phase 2 1008106-64-6
49 interferons Phase 2
50 Interferon alpha-2 Phase 2

Interventional clinical trials:

(show all 48)
# Name Status NCT ID Phase Drugs
1 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
2 Treatment for Very Low and Standard Risk Favorable Histology Wilms Tumor Unknown status NCT00352534 Phase 3 vincristine sulfate;doxorubicin hydrochloride
3 Nephroblastoma (Wilms Tumour) Clinical Trial And Study Unknown status NCT00047138 Phase 3 carboplatin;cyclophosphamide;doxorubicin hydrochloride;etoposide;vincristine sulfate
4 Nephroblastoma Clinical Trial and Study Unknown status NCT00003804 Phase 3 vincristine sulfate
5 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
6 NATIONAL WILMS TUMOR STUDY-5 -- THERAPEUTIC TRIAL AND BIOLOGY STUDY Completed NCT00002611 Phase 3 cyclophosphamide;doxorubicin hydrochloride;etoposide;vincristine sulfate
7 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
8 Treatment of Newly Diagnosed Higher Risk Favorable Histology Wilms Tumors Active, not recruiting NCT00379340 Phase 3 doxorubicin hydrochloride;liposomal vincristine sulfate;cyclophosphamide;etoposide
9 Treatment for Patients With Bilateral, Multicentric, or Bilaterally-Predisposed Unilateral Wilms Tumor Active, not recruiting NCT00945009 Phase 3 Doxorubicin Hydrochloride;Vincristine Sulfate
10 High-Dose Chemotherapy With Tandem Peripheral Blood Stem Cell (PBSC) Rescue for the Treatment of High-Risk Pediatric Solid Tumors. Unknown status NCT00179816 Phase 1, Phase 2 High-Dose Chemotherapy with Tandem PBSC Rescue.
11 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
12 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
13 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
14 Wilm's Tumor 1 (WT1) Peptide Vaccination for Patients With High Risk Hematological Malignancies Completed NCT00433745 Phase 2 WT1 Peptide Vaccine
15 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
16 A Phase II Study of Topotecan in Children With Recurrent Wilms Tumor Completed NCT00187031 Phase 2 Topotecan, Filgrastim (G-CSF), Pegfilgrastim
17 Myeloablative Chemotherapy With Stem Cell Rescue for Rare Poor-Prognosis Cancers Completed NCT00141765 Phase 2
18 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
19 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
20 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
21 First-line Immunotherapy Using Wilms' Tumor Protein 1 (WT1)-Targeted Dendritic Cell Vaccinations for Malignant Pleural Mesothelioma Recruiting NCT02649829 Phase 1, Phase 2
22 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
23 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
24 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
25 Stereotactic Body Radiotherapy (SBRT) for Pulmonary Metastases in Ewing Sarcoma, Rhabdomyosarcoma, and Wilms Tumors Active, not recruiting NCT02581384 Phase 1, Phase 2
26 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
27 Personalized Risk-Adapted Therapy in Post-Pubertal Patients With Newly-Diagnosed Medulloblastoma (PersoMed-I) Not yet recruiting NCT04402073 Phase 2 Sonidegib;Cisplatin;Lomustine;Vincristine
28 Phase I Trial and Pharmacokinetic Study of Tariquidar (XR9576), a P-Glycoprotein Inhibitor, in Combination With Doxorubicin, Vinorelbine or Docetaxel in Pediatric Patients With Refractory Solid Tumors Including Brain Tumors Completed NCT00011414 Phase 1 Tariquidar
29 Wilms Tumor Gene (WT1) mRNA-transfected Autologous Dendritic Cell Vaccination for Patients With Acute Myeloid Leukemia (AML): a Phase I Trial Completed NCT00834002 Phase 1
30 Ph 1 Study of Escalating Single & Multiple Doses of Mana 312 (Multi Tumor-Associated Antigen T Cells) Administered to Adult Subjects With Acute Myeloid Leukemia or Myelodysplastic Syndrome After Allogeneic Hematopoietic Stem Cell Transplant Recruiting NCT04679194 Phase 1
31 Observational - Relationships Between Tumor-Associated Macrophages and Clinicopathological Factors in Wilms Tumor Completed NCT01493817
32 Observational - Characterization of Urinary Metabolite Profiles in Wilms Tumor Completed NCT01614808
33 Categorization of Wilms Tumors by Genetic Expression Completed NCT00897637
34 A Genome-Wide Association Study in Wilms Tumor Completed NCT01808079
35 Therapeutically Applicable Research to Generate Effective Treatments (TARGET) Initiative High-Risk Renal Tumor Project: Application of Array-Based Methods and Next Generation Sequencing to Identify Candidate Molecular Targets for High-Risk Wilms Tumors Completed NCT01118078
36 The Incidence, Inheritance, and Prognostic Significance of Polymorphisms in the RASSF1A Gene in Children With Wilms Tumors Completed NCT00088803
37 Validation of Prognostic Markers for Very Low Risk Wilms Tumors Completed NCT01004783
38 Validation of Copy Number Changes by MLPA as Predictors of Relapse in Wilms Tumor Completed NCT01576198
39 Discovery and Validation of Wilms Tumor Markers Using Urine Proteomics Completed NCT01550393
40 Pilot Case-Control Study of WT1 Mutations in Wilms Tumor Patients Who Develop ESRD Completed NCT01314391
41 Biological Analysis of Ethnic Variations in Wilms Tumor Completed NCT01542333
42 Investigation of DICER1 in Cystic Nephroma and Cystic Partially Differentiated Nephroblastoma Completed NCT01353300
43 Diffusion-weighted Images as an Additional Method for Diagnosing Histological Types of Nephroblastoma in Children Recruiting NCT04814758
44 P53, Ki67 and Cyclin A Immunohistochemical Staining as Predictors for Wilms' Tumour Aggressiveness and Recurrence Recruiting NCT04758455
45 Therapeutic Recommendations for the Treatment of Children With Nephroblastoma in Africa. Recruiting NCT04423484
46 Genetics of Wilms' Tumor and/or the Associated Conditions of Aniridia, Hemihypertrophy, and Genitourinary Anomalies Active, not recruiting NCT00503893
47 Pharmacogenetic Study of Antimitotic Therapies Involved in Hepatic Veno-occlusive Disease in Children With Nephroblastoma or Acute Lymphoblastic Leukemia Not yet recruiting NCT04168788
48 National Wilm's Tumor Study Late Effects Withdrawn NCT00228696

Search NIH Clinical Center for Wilms Tumor 5

Genetic Tests for Wilms Tumor 5

Genetic tests related to Wilms Tumor 5:

# Genetic test Affiliating Genes
1 Wilms Tumor 5 29 POU6F2
2 Wilms Tumor Susceptibility-5 29

Anatomical Context for Wilms Tumor 5

MalaCards organs/tissues related to Wilms Tumor 5:

40
Breast, Myeloid, Bone Marrow, Bone, Cortex, Liver, Thyroid

Publications for Wilms Tumor 5

Articles related to Wilms Tumor 5:

(show all 36)
# Title Authors PMID Year
1
Germline mutations of the POU6F2 gene in Wilms tumors with loss of heterozygosity on chromosome 7p14. 6 57
15459955 2004
2
Refinement within single yeast artificial chromosome clones of a minimal region commonly deleted on the short arm of chromosome 7 in Wilms tumours. 6 57
11284034 2001
3
TRIM28 congenital predisposition to Wilms' tumor: novel mutations and presentation in a sibling pair. 6
32699065 2020
4
Germline rearrangements in families with strong family history of glioma and malignant melanoma, colon, and breast cancer. 6
24723567 2014
5
Excess breast cancer risk in first degree relatives of CHEK2∗1100delC positive familial breast cancer cases. 6
23415889 2013
6
BRCA1, TP53, and CHEK2 germline mutations in uterine serous carcinoma. 6
22811390 2013
7
Whole exome sequencing suggests much of non-BRCA1/BRCA2 familial breast cancer is due to moderate and low penetrance susceptibility alleles. 6
23409019 2013
8
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
9
CHEK2 1100DELC germline mutation: a frequency study in hereditary breast and colon cancer Brazilian families. 6
23329222 2012
10
Breast carcinoma and Lynch syndrome: molecular analysis of tumors arising in mutation carriers, non-carriers, and sporadic cases. 6
22691310 2012
11
Frequency of the CHEK2 1100delC mutation among women with early-onset and bilateral breast cancer. 6
22520019 2012
12
A risk of essential thrombocythemia in carriers of constitutional CHEK2 gene mutations. 6
22058216 2012
13
CHEK2*1100delC and risk of malignant melanoma: Danish and German studies and meta-analysis. 6
21956126 2012
14
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
15
CHEK2*1100delC homozygosity is associated with a high breast cancer risk in women. 6
22058428 2011
16
Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. 6
22006311 2011
17
Risk of breast cancer in women with a CHEK2 mutation with and without a family history of breast cancer. 6
21876083 2011
18
Rare, evolutionarily unlikely missense substitutions in CHEK2 contribute to breast cancer susceptibility: results from a breast cancer family registry case-control mutation-screening study. 6
21244692 2011
19
Evaluation of the contribution of the three breast cancer susceptibility genes CHEK2, STK11, and PALB2 in non-BRCA1/2 French Canadian families with high risk of breast cancer. 6
20722467 2010
20
Synergistic interaction of variants in CHEK2 and BRCA2 on breast cancer risk. 6
19030985 2009
21
CHEK2 1100delC and male breast cancer in the Netherlands. 6
18759107 2009
22
CHEK2 is a multiorgan cancer susceptibility gene. 6
15492928 2004
23
The parathyroid hormone-responsive B1 gene is interrupted by a t(1;7)(q42;p15) breakpoint associated with Wilms' tumour. 57
12618763 2003
24
Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations. 6
11967536 2002
25
Destabilization of CHK2 by a missense mutation associated with Li-Fraumeni Syndrome. 6
11719428 2001
26
Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome. 6
10617473 1999
27
Loss of heterozygosity for the short arm of chromosome 7 in sporadic Wilms tumour. 57
9690521 1998
28
Localization of a novel t(1;7) translocation associated with Wilms' tumor predisposition and skeletal abnormalities. 57
8946193 1996
29
Mapping of a putative tumor suppressor locus to proximal 7p in Wilms tumors. 57
8938443 1996
30
Germline and somatic abnormalities of chromosome 7 in Wilms' tumor. 57
7954327 1994
31
Primary hepatic metastases in nephroblastoma--a report of the SIOP/GPOH Study. 61
16410128 2006
32
[Metachronous bilateral Wilms' tumor]. 61
11864523 2002
33
Wilms tumor and multicystic dysplastic kidney disease. 61
9366370 1997
34
[Diagnostic and therapeutic problems posed by malignant non Hodgkin lymphoma of renal origin in children. Apropos of 7 cases]. 61
1337694 1992
35
Birth defects in three common pediatric malignancies; Wilms' tumor, neuroblastoma and Ewing's sarcoma. 61
2999670 1985
36
The treatment of Wilms' tumor: Results of the national Wilms' tumor study. 61
184912 1976

Variations for Wilms Tumor 5

ClinVar genetic disease variations for Wilms Tumor 5:

6 (show all 44)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TET2-AS1 , TET2 NM_001127208.2(TET2):c.4456T>C (p.Ser1486Pro) SNV other 438791 rs1553918194 GRCh37: 4:106193994-106193994
GRCh38: 4:105272837-105272837
2 MED12 NM_005120.3(MED12):c.131G>A (p.Gly44Asp) SNV other 92220 rs199469672 GRCh37: X:70339254-70339254
GRCh38: X:71119404-71119404
3 CTNNB1 NM_001904.4(CTNNB1):c.770C>T (p.Thr257Ile) SNV other 438758 rs1553630452 GRCh37: 3:41267186-41267186
GRCh38: 3:41225695-41225695
4 CTNNB1 NM_001904.4(CTNNB1):c.133_135del (p.Ser45del) Deletion other 17576 rs587776850 GRCh37: 3:41266136-41266138
GRCh38: 3:41224643-41224645
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 BRAF NM_001374258.1(BRAF):c.1919T>A (p.Val640Glu) SNV Pathogenic 13961 rs113488022 GRCh37: 7:140453136-140453136
GRCh38: 7:140753336-140753336
8 CHEK2 NM_007194.4(CHEK2):c.1100_1101del (p.Thr367fs) Deletion Pathogenic 438773 rs1555913934 GRCh37: 22:29091856-29091857
GRCh38: 22:28695868-28695869
9 TRIM28 NM_005762.3(TRIM28):c.2101C>T (p.Gln701Ter) SNV Pathogenic 973190 GRCh37: 19:59061222-59061222
GRCh38: 19:58549855-58549855
10 POU6F2 NM_007252.4(POU6F2):c.573G>T (p.Gln191His) SNV Pathogenic 1871 rs121918261 GRCh37: 7:39379302-39379302
GRCh38: 7:39339703-39339703
11 POU6F2 POU6F2, C-G, EXON 1C, 5-PRIME UTR SNV Pathogenic 1872 GRCh37:
GRCh38:
12 DIS3L2 NM_152383.5(DIS3L2):c.2379_2380GC[1] (p.Arg794fs) Microsatellite Likely pathogenic 438774 rs1553551874 GRCh37: 2:233199430-233199431
GRCh38: 2:232334720-232334721
13 SMAD4 NM_005359.6(SMAD4):c.875C>T (p.Pro292Leu) SNV Uncertain significance 184326 rs786201404 GRCh37: 18:48584797-48584797
GRCh38: 18:51058427-51058427
14 WT1 NM_024426.6(WT1):c.*1021_*1022GT[15] Microsatellite Uncertain significance 304379 rs58549495 GRCh37: 11:32409550-32409553
GRCh38: 11:32388004-32388007
15 WT1 NM_024426.6(WT1):c.*707C>A SNV Uncertain significance 304394 rs886048217 GRCh37: 11:32409897-32409897
GRCh38: 11:32388351-32388351
16 WT1 , LOC107982234 NM_024426.6(WT1):c.-90T>C SNV Uncertain significance 304435 rs886048238 GRCh37: 11:32456996-32456996
GRCh38: 11:32435450-32435450
17 WT1 NM_024426.6(WT1):c.*841C>A SNV Uncertain significance 304388 rs886048213 GRCh37: 11:32409763-32409763
GRCh38: 11:32388217-32388217
18 WT1 NM_024426.6(WT1):c.*1021_*1022GT[19] Microsatellite Uncertain significance 304377 rs58549495 GRCh37: 11:32409549-32409550
GRCh38: 11:32388003-32388004
19 WT1 , LOC107982234 NM_024426.6(WT1):c.285C>T (p.Gly95=) SNV Uncertain significance 304426 rs886048230 GRCh37: 11:32456622-32456622
GRCh38: 11:32435076-32435076
20 WT1 NM_024426.6(WT1):c.*1021_*1022GT[14] Microsatellite Uncertain significance 304381 rs58549495 GRCh37: 11:32409550-32409555
GRCh38: 11:32388004-32388009
21 WT1 NM_024426.6(WT1):c.*1058G>T SNV Uncertain significance 304376 rs886048211 GRCh37: 11:32409546-32409546
GRCh38: 11:32388000-32388000
22 WT1 NM_024426.6(WT1):c.*685G>T SNV Uncertain significance 304395 rs886048218 GRCh37: 11:32409919-32409919
GRCh38: 11:32388373-32388373
23 WT1 , LOC107982234 NM_024426.6(WT1):c.136G>T (p.Ala46Ser) SNV Uncertain significance 304430 rs886048233 GRCh37: 11:32456771-32456771
GRCh38: 11:32435225-32435225
24 WT1 , LOC107982234 NM_024426.6(WT1):c.-86T>C SNV Uncertain significance 304434 rs886048237 GRCh37: 11:32456992-32456992
GRCh38: 11:32435446-32435446
25 WT1 NM_024426.6(WT1):c.*741G>T SNV Uncertain significance 304393 rs886048216 GRCh37: 11:32409863-32409863
GRCh38: 11:32388317-32388317
26 WT1 NM_024426.6(WT1):c.*1021_*1022GT[20] Microsatellite Uncertain significance 304378 rs58549495 GRCh37: 11:32409549-32409550
GRCh38: 11:32388003-32388004
27 VHL NM_000551.4(VHL):c.241C>T (p.Pro81Ser) SNV Uncertain significance 2233 rs104893829 GRCh37: 3:10183772-10183772
GRCh38: 3:10142088-10142088
28 WT1 , LOC107982234 NM_024426.6(WT1):c.411_413GCC[5] (p.Pro141dup) Microsatellite Uncertain significance 406690 rs760304811 GRCh37: 11:32456484-32456485
GRCh38: 11:32434938-32434939
29 WT1 NM_024426.6(WT1):c.*269G>T SNV Uncertain significance 304409 rs886048225 GRCh37: 11:32410335-32410335
GRCh38: 11:32388789-32388789
30 WT1 , LOC107982234 NM_024426.6(WT1):c.-31G>T SNV Uncertain significance 304431 rs886048234 GRCh37: 11:32456937-32456937
GRCh38: 11:32435391-32435391
31 WT1 , LOC107982234 NM_024426.6(WT1):c.-94G>C SNV Uncertain significance 304436 rs886048239 GRCh37: 11:32457000-32457000
GRCh38: 11:32435454-32435454
32 WT1 , LOC107982234 NM_024426.6(WT1):c.-82A>C SNV Uncertain significance 304433 rs886048236 GRCh37: 11:32456988-32456988
GRCh38: 11:32435442-32435442
33 WT1 NM_024426.6(WT1):c.*1021_*1022GT[18] Microsatellite Uncertain significance 304380 rs58549495 GRCh37: 11:32409549-32409550
GRCh38: 11:32388003-32388004
34 WT1 NM_024426.6(WT1):c.*574del Deletion Uncertain significance 304400 rs5030319 GRCh37: 11:32410030-32410030
GRCh38: 11:32388484-32388484
35 WT1 NM_024426.6(WT1):c.*393G>T SNV Uncertain significance 304405 rs886048222 GRCh37: 11:32410211-32410211
GRCh38: 11:32388665-32388665
36 WT1 , LOC107982234 NM_024426.6(WT1):c.247G>T (p.Ala83Ser) SNV Uncertain significance 304427 rs886048231 GRCh37: 11:32456660-32456660
GRCh38: 11:32435114-32435114
37 WT1 NM_024426.6(WT1):c.*768A>C SNV Uncertain significance 304392 rs886048215 GRCh37: 11:32409836-32409836
GRCh38: 11:32388290-32388290
38 WT1 NM_024426.6(WT1):c.*354G>T SNV Uncertain significance 304407 rs886048224 GRCh37: 11:32410250-32410250
GRCh38: 11:32388704-32388704
39 WT1 NM_024426.6(WT1):c.*366C>A SNV Uncertain significance 304406 rs886048223 GRCh37: 11:32410238-32410238
GRCh38: 11:32388692-32388692
40 WT1 NM_024426.6(WT1):c.*897G>C SNV Likely benign 304385 rs5030324 GRCh37: 11:32409707-32409707
GRCh38: 11:32388161-32388161
41 WT1 NM_024426.6(WT1):c.*542G>A SNV Likely benign 304401 rs142726499 GRCh37: 11:32410062-32410062
GRCh38: 11:32388516-32388516
42 WT1 NM_024426.6(WT1):c.*138G>A SNV Likely benign 304414 rs111351882 GRCh37: 11:32410466-32410466
GRCh38: 11:32388920-32388920
43 WT1 NM_024426.6(WT1):c.*978dup Duplication Benign 304383 rs5030326 GRCh37: 11:32409625-32409626
GRCh38: 11:32388079-32388080
44 WT1 NM_024426.6(WT1):c.*1049del Deletion Benign 304382 rs568803808 GRCh37: 11:32409555-32409555
GRCh38: 11:32388009-32388009

UniProtKB/Swiss-Prot genetic disease variations for Wilms Tumor 5:

72
# Symbol AA change Variation ID SNP ID
1 POU6F2 p.Gln192His VAR_022419

Expression for Wilms Tumor 5

LifeMap Discovery
Genes differentially expressed in tissues of Wilms Tumor 5 patients vs. healthy controls: 35 (show top 50) (show all 333)
# Gene Description Tissue Up/Dn Fold Change (log2) P value
1 CDH16 cadherin 16 Kidney - 11.18 0.000
2 SLC12A1 solute carrier family 12 member 1 Kidney - 10.67 0.000
3 SOX11 SRY-box transcription factor 11 Kidney + 9.64 0.000
4 LYPD1 LY6/PLAUR domain containing 1 Kidney + 9.37 0.000
5 ACSM2A acyl-CoA synthetase medium chain family member 2A Kidney - 9.29 0.009
6 FXYD4 FXYD domain containing ion transport regulator 4 Kidney - 9.21 0.000
7 CALB1 calbindin 1 Kidney - 9.11 0.000
8 TOP2A DNA topoisomerase II alpha Kidney + 9.07 0.000
9 SCNN1A sodium channel epithelial 1 subunit alpha Kidney - 8.78 0.000
10 KCNJ1 potassium inwardly rectifying channel subfamily J member 1 Kidney - 8.78 0.000
11 EYA1 EYA transcriptional coactivator and phosphatase 1 Kidney + 8.66 0.000
12 EGF epidermal growth factor Kidney - 8.65 0.000
13 NAT8 N-acetyltransferase 8 (putative) Kidney - 8.65 0.001
14 COL2A1 collagen type II alpha 1 chain Kidney + 8.57 0.000
15 SMIM24 small integral membrane protein 24 Kidney - 8.35 0.000
16 MIOX myo-inositol oxygenase Kidney - 8.15 0.000
17 TMEM52B transmembrane protein 52B Kidney - 8.08 0.000
18 PDZK1IP1 PDZK1 interacting protein 1 Kidney - 8.07 0.000
19 BBOX1 gamma-butyrobetaine hydroxylase 1 Kidney - 8.04 0.000
20 ALDOB aldolase, fructose-bisphosphate B Kidney - 8.04 0.022
21 MAL mal, T cell differentiation protein Kidney - 7.98 0.000
22 ATP6V0A4 ATPase H+ transporting V0 subunit a4 Kidney - 7.93 0.000
23 KL klotho Kidney - 7.93 0.000
24 GLYAT glycine-N-acyltransferase Kidney - 7.88 0.002
25 CITED1 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 1 Kidney + 7.81 0.000
26 SIX1 SIX homeobox 1 Kidney + 7.76 0.000
27 BHMT betaine--homocysteine S-methyltransferase Kidney - 7.74 0.003
28 NPHS2 NPHS2 stomatin family member, podocin Kidney - 7.68 0.000
29 DEFB1 defensin beta 1 Kidney - 7.64 0.000
30 KLHDC7A kelch domain containing 7A Kidney - 7.60 0.000
31 OGDHL oxoglutarate dehydrogenase L Kidney - 7.52 0.000
32 CLDN8 claudin 8 Kidney - 7.44 0.000
33 CLCNKB chloride voltage-gated channel Kb Kidney - 7.43 0.000
34 HPD 4-hydroxyphenylpyruvate dioxygenase Kidney - 7.39 0.010
35 TACSTD2 tumor associated calcium signal transducer 2 Kidney - 7.38 0.000
36 FXYD2 FXYD domain containing ion transport regulator 2 Kidney - 7.32 0.000
37 TMEM45B transmembrane protein 45B Kidney - 7.31 0.000
38 SCNN1G sodium channel epithelial 1 subunit gamma Kidney - 7.30 0.000
39 MFSD4A major facilitator superfamily domain containing 4A Kidney - 7.27 0.000
40 TMEM213 transmembrane protein 213 Kidney - 7.26 0.000
41 MUC15 mucin 15, cell surface associated Kidney - 7.25 0.000
42 TFAP2B transcription factor AP-2 beta Kidney - 7.24 0.000
43 PDZK1 PDZ domain containing 1 Kidney - 7.20 0.004
44 HMGA2 high mobility group AT-hook 2 Kidney + 7.20 0.000
45 SLC13A1 solute carrier family 13 member 1 Kidney - 7.19 0.000
46 PAH phenylalanine hydroxylase Kidney - 7.16 0.018
47 FGF1 fibroblast growth factor 1 Kidney - 7.16 0.000
48 DNASE1 deoxyribonuclease 1 Kidney - 7.13 0.000
49 SLC13A3 solute carrier family 13 member 3 Kidney - 7.13 0.000
50 G6PC1 glucose-6-phosphatase catalytic subunit 1 Kidney - 7.10 0.017
Search GEO for disease gene expression data for Wilms Tumor 5.

Pathways for Wilms Tumor 5

Pathways related to Wilms Tumor 5 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.44 CHEK2 BRAF
2 11.12 TRIM28 BRAF
3 10.73 TRIM28 CHEK2
4 10.29 TRIM28 CHEK2

GO Terms for Wilms Tumor 5

Biological processes related to Wilms Tumor 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein autophosphorylation GO:0046777 9.16 TRIM28 CHEK2
2 protein phosphorylation GO:0006468 9.13 TRIM28 CHEK2 BRAF
3 cellular response to drug GO:0035690 8.62 CHEK2 BRAF

Molecular functions related to Wilms Tumor 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein kinase activity GO:0004672 8.8 TRIM28 CHEK2 BRAF

Sources for Wilms Tumor 5

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....