MCID: WLM011
MIFTS: 44

Wilms Tumor 6

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

Aliases & Classifications for Wilms Tumor 6

MalaCards integrated aliases for Wilms Tumor 6:

Name: Wilms Tumor 6 53 71
Wilms Tumor 6, Susceptibility to 53 71
Wilms Tumor, Susceptibility to 53 71
Wt6 53 71
Susceptibility to Wilms Tumor 6 71
Nephroblastoma 69
Wilms Tumor 53

Classifications:



External Ids:

OMIM 53 616806
MedGen 39 CN235182
MeSH 41 D009396
SNOMED-CT via HPO 65 25081006 302849000

Summaries for Wilms Tumor 6

UniProtKB/Swiss-Prot : 71 Wilms tumor 6: A pediatric malignancy of kidney, and the most common childhood abdominal malignancy. It is caused by the uncontrolled multiplication of renal stem, stromal, and epithelial cells.

MalaCards based summary : Wilms Tumor 6, also known as wilms tumor 6, susceptibility to, is related to wilms tumor 1 and medulloblastoma, and has symptoms including nephroblastoma and abdominal pain. An important gene associated with Wilms Tumor 6 is REST (RE1 Silencing Transcription Factor), and among its related pathways/superpathways are WNT Signaling and Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways. The drug Nitric Oxide has been mentioned in the context of this disorder. Affiliated tissues include kidney and heart.

Description from OMIM: 616806

Related Diseases for Wilms Tumor 6

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

(show top 50) (show all 262)
# Related Disease Score Top Affiliating Genes
1 wilms tumor 1 33.2 CTNNB1 REST
2 medulloblastoma 29.0 CTNNB1 REST
3 wilms tumor 5 12.6
4 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 12.5
5 hereditary wilms' tumor 12.3
6 cervical wilms' tumor 12.2
7 wilms tumor 4 12.2
8 wilms tumor 2 12.2
9 perlman syndrome 12.2
10 denys-drash syndrome 12.1
11 wilms tumor and radial bilateral aplasia 12.1
12 wilms tumor predisposition 12.1
13 wilms tumor 3 12.1
14 epithelial predominant wilms' tumor 12.1
15 mixed cell type kidney wilms' tumor 12.0
16 blastema predominant kidney wilms' tumor 12.0
17 stromal predominant kidney wilms' tumor 12.0
18 wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome 12.0
19 metachronous kidney wilms' tumor 12.0
20 familial wilms tumor 2 12.0
21 global developmental delay-lung cysts-overgrowth-wilms tumor syndrome 11.9
22 frasier syndrome 11.5
23 beckwith-wiedemann syndrome 11.4
24 mulibrey nanism 11.4
25 aniridia 1 11.4
26 hemihyperplasia, isolated 11.3
27 rhabdoid tumor predisposition syndrome 1 11.3
28 mosaic variegated aneuploidy syndrome 1 11.1
29 mosaic variegated aneuploidy syndrome 3 11.1
30 ovarian wilms' cancer 10.9
31 hyperparathyroidism 2 with jaw tumors 10.9
32 li-fraumeni syndrome 10.9
33 li-fraumeni syndrome 2 10.9
34 mosaic variegated aneuploidy syndrome 2 10.9
35 thauvin-robinet-faivre syndrome 10.9
36 simpson-golabi-behmel syndrome 10.9
37 leukemia 10.6
38 myeloid leukemia 10.4
39 leukemia, acute myeloid 10.4
40 renal oncocytoma 10.3
41 sarcoma 10.2
42 blood group, i system 10.2
43 horseshoe kidney 10.2
44 breast cancer 10.1
45 acute leukemia 10.1
46 lymphoblastic leukemia 10.1
47 myelodysplastic syndrome 10.1
48 pseudohermaphroditism 10.1
49 clear cell sarcoma 10.1
50 renal cell carcinoma, nonpapillary 10.1

Graphical network of the top 20 diseases related to Wilms Tumor 6:



Diseases related to Wilms Tumor 6

Symptoms & Phenotypes for Wilms Tumor 6

Clinical features from OMIM:

616806

Human phenotypes related to Wilms Tumor 6:

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

UMLS symptoms related to Wilms Tumor 6:


abdominal pain

Drugs & Therapeutics for Wilms Tumor 6

Drugs for Wilms Tumor 6 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nitric Oxide Approved 10102-43-9 145068

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Acute Effect of Continuous Positive Airway Pressure in Heart Failure Completed NCT01088854 Phase 2
2 Study in Children With the Diagnosis of Congenital Diaphragmatic Hernia (CDH) and Oesophageal Atresia (EA) Completed NCT02466451

Search NIH Clinical Center for Wilms Tumor 6

Genetic Tests for Wilms Tumor 6

Anatomical Context for Wilms Tumor 6

MalaCards organs/tissues related to Wilms Tumor 6:

38
Kidney, Heart

Publications for Wilms Tumor 6

Articles related to Wilms Tumor 6:

(show top 50) (show all 1819)
# Title Authors Year
1
Quantification of Wilms' tumor 1 mRNA by digital polymerase chain reaction. ( 28994041 )
2018
2
Wilms' Tumor 1 Overexpression in Granulosa Cells Is Associated with Polycystic Ovaries in Polycystic Ovary Syndrome Patients. ( 29414825 )
2018
3
Simultaneous Presentation of Wilms' Tumor and Contralateral Ganglioneuroma in a Child: Case Report and Literature Review. ( 29334535 )
2018
4
ETV6-NTRK3 in congenital mesoblastic nephroma: A report of the SIOP/GPOH nephroblastoma study. ( 29286563 )
2018
5
Sensitive detection of rare antigen-specific T cells directed against Wilms' tumor 1 by FluoroSpot assay. ( 28573960 )
2018
6
Immunoreactivity of Wilms tumor 1 (WT1) as an additional evidence supporting hemangiomatous rather than inflammatory origin in the etiopathogenesis of angiolymphoid hyperplasia with eosinophilia. ( 29445571 )
2018
7
Polymorphisms in the Wilms Tumor Gene Are Associated With Interindividual Variations in Rubella Virus-Specific Cellular Immunity After Measles-Mumps-Rubella II Vaccination. ( 29253144 )
2018
8
Urine cell-free DNA is a biomarker for nephroblastomatosis or Wilms tumor in PIK3CA-related overgrowth spectrum (PROS). ( 29300373 )
2018
9
Nephroblastoma Arising in a Primary Testicular Teratoma in a Nonatrophic Testis of a 50-Year-Old Man. ( 29309092 )
2018
10
Surveillance Recommendations for Children with Overgrowth Syndromes and Predisposition to Wilms Tumors and Hepatoblastoma. ( 28674120 )
2017
11
Encephalocraniocutaneous lipomatosis with Wilms' tumor. ( 28612492 )
2017
12
BARD1 Gene Polymorphisms Confer Nephroblastoma Susceptibility. ( 28161399 )
2017
13
Wilms Tumor 1 (WT1) mRNA Expression Level at Diagnosis Is a Significant Prognostic Marker in Elderly Patients with Myelodysplastic Syndrome. ( 27866185 )
2017
14
Development of oral cancer vaccine using recombinant Bifidobacterium displaying Wilms' tumor 1 protein. ( 28299466 )
2017
15
Inhibitory effect of Par-4 combined with cisplatin on human Wilms' tumor cells. ( 28720068 )
2017
16
Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation. ( 28553959 )
2017
17
Palliative radiation therapy for superior vena cava syndrome in metastatic Wilms tumor using 10XFFF and 3D surface imaging to avoid anesthesia in a pediatric patient-a teaching case. ( 28740919 )
2017
18
Quantitative assessment of Wilms tumor 1 expression by real-time quantitative polymerase chain reaction in patients with acute myeloblastic leukemia. ( 28567073 )
2017
19
Truncating Wilms Tumor Suppressor Gene 1 Mutation in an XX Female with Adult-Onset Focal Segmental Glomerulosclerosis and Streak Ovaries: A Case Report. ( 27701157 )
2017
20
Clinical Utility of Wilms' Tumor 1 Monitoring in Patients with Myeloid Malignancy and Prior Allogeneic Hematopoietic Stem Cell Transplantation. ( 28673850 )
2017
21
Simultaneous Presentation of Wilms Tumor and Immature Ovarian Teratoma in Beckwith-Wiedemann Syndrome. ( 28692553 )
2017
22
Use of Wilms Tumor 1 Gene Expression as a Reliable Marker for Prognosis and Minimal Residual Disease Monitoring in Acute Myeloid Leukemia With Normal Karyotype Patients. ( 28163010 )
2017
23
Wilms Tumor 1 gene expression levels improve risk stratification in AML patients. Results of a multicentre study within the Spanish Group for Molecular Biology in Haematology. ( 28369773 )
2017
24
Turning back the Wheel: Inducing Mesenchymal to Epithelial Transition via Wilms Tumor 1 Knockdown in Human Mesothelioma Cell Lines to Influence Proliferation, Invasiveness, and Chemotaxis. ( 28054314 )
2017
25
Impact of Wilms' tumor 1 expression on outcome of patients undergoing allogeneic stem cell transplantation for AML. ( 28067876 )
2017
26
Cancer antigen profiling for malignant pleural mesothelioma immunotherapy: expression and coexpression of mesothelin, cancer antigen 125, and Wilms tumor 1. ( 29100432 )
2017
27
Anti-apoptotic quinolinate phosphoribosyltransferase (QPRT) is a target gene of Wilms' tumor gene 1 (WT1) protein in leukemic cells. ( 27889611 )
2017
28
Association Between HACE1 Gene Polymorphisms and Wilms' Tumor Risk in a Chinese Population. ( 29243987 )
2017
29
The Wilms tumor protein Wt1 contributes to female fertility by regulating oviductal proteostasis. ( 28334862 )
2017
30
Significance of Wilms' tumor 1 antigen as a cancer vaccine for pancreatic cancer. ( 28950074 )
2017
31
Transcription factor Wilms' tumor 1 regulates developmental RNAs through 3' UTR interaction. ( 28289143 )
2017
32
Differential detection of cytoplasmic Wilms tumor 1 expression by immunohistochemistry, western blotting and mRNA quantification. ( 27922671 )
2017
33
Nucleotide Transition 390C-T in the Wilms' Tumor 1 Gene: A Risk Factor of Hypospadias? ( 28878596 )
2017
34
Effects of MicroRNA-19b on the Proliferation, Apoptosis, and Migration of Wilms' Tumor Cells Via the PTEN/PI3K/AKT Signaling Pathway. ( 28322459 )
2017
35
Molecular cloning of canine Wilms' tumor 1 for immunohistochemical analysis in canine tissues. ( 28603218 )
2017
36
Wilms' tumor gene 1 silencing inhibits proliferation of human osteosarcoma MG-63 cell line by cell cycle arrest and apoptosis activation. ( 28107196 )
2017
37
Osteopathia striata with cranial sclerosis and Wilms tumor: Coincidence or consequence? ( 29120061 )
2017
38
Functional KRAS mutations and a potential role for PI3K/AKT activation in Wilms tumors. ( 28188683 )
2017
39
Chromosomal anomalies at 1q, 3, 16q, and mutations of SIX1 and DROSHA genes underlie Wilms tumor recurrences. ( 26802027 )
2016
40
Prevalence and Prognostic Impact of Wilms' Tumor 1 (WT1) Gene, Including SNP rs16754 in Cytogenetically Normal Acute Myeloblastic Leukemia (CN-AML): An Iranian Experience. ( 26725263 )
2016
41
MicroRNA-197 Mediates the Overgrowth and Anti-Apoptotic Effects by Downregulating Insulin-Like Growth Factor-Binding Protein-3 During Nephroblastoma Tumorigenesis. ( 27223680 )
2016
42
Expression of Neutrophil Gelatinase-Associated Lipocalin and Kidney Injury Molecule-1 in Wilms Tumor. ( 27562389 )
2016
43
Wilms tumor 1 mutations in the pathogenesis of acute myeloid leukemia. ( 27252512 )
2016
44
Metanephric Adenofibroma Masquerading as Wilms' Tumor. ( 27900278 )
2016
45
Wilms tumor gene 1 (WT1), TP53, RAS/BRAF and KIT aberrations in testicular germ cell tumors. ( 27085458 )
2016
46
A recessive syndrome of intellectual disability, moderate overgrowth, and renal dysplasia predisposing to Wilms tumor is caused by a mutation in FIBP gene. ( 27183861 )
2016
47
Wilms Tumor Suppressor, WT1, Cooperates with MicroRNA-26a and MicroRNA-101 to Suppress Translation of the Polycomb Protein, EZH2, in Mesenchymal Stem Cells. ( 26655220 )
2016
48
microRNA-361 targets Wilms' tumor 1 to inhibit the growth, migration and invasion of non-small-cell lung cancer cells. ( 27779659 )
2016
49
Preliminary observations regarding the expression of collagen triple helix repeat-containing 1 is an independent prognostic factor for Wilms' tumor. ( 27230801 )
2016
50
Unusual association of non-anaplastic Wilms tumor and Cornelia de Lange syndrome: case report. ( 27291393 )
2016

Variations for Wilms Tumor 6

UniProtKB/Swiss-Prot genetic disease variations for Wilms Tumor 6:

71
# Symbol AA change Variation ID SNP ID
1 REST p.Arg160Pro VAR_076333
2 REST p.Asn290Tyr VAR_076334
3 REST p.His322Arg VAR_076335 rs869025312
4 REST p.His412Gln VAR_076336

ClinVar genetic disease variations for Wilms Tumor 6:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CTNNB1 NM_001904.3(CTNNB1): c.133_135delTCT (p.Ser45del) deletion Pathogenic rs587776850 GRCh38 Chromosome 3, 41224645: 41224647
2 CTNNB1 NM_001904.3(CTNNB1): c.134C> T (p.Ser45Phe) single nucleotide variant Pathogenic/Likely pathogenic rs121913409 GRCh37 Chromosome 3, 41266137: 41266137
3 REST NM_005612.4(REST): c.831_832delAT (p.Cys278Trpfs) deletion risk factor rs869025310 GRCh38 Chromosome 4, 56911469: 56911470
4 REST NM_005612.4(REST): c.773_776delTGAG (p.Val258Alafs) deletion risk factor rs869025311 GRCh38 Chromosome 4, 56911411: 56911414
5 REST NM_005612.4(REST): c.965A> G (p.His322Arg) single nucleotide variant risk factor rs869025312 GRCh38 Chromosome 4, 56919853: 56919853

Expression for Wilms Tumor 6

Search GEO for disease gene expression data for Wilms Tumor 6.

Pathways for Wilms Tumor 6

Pathways related to Wilms Tumor 6 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.55 CTNNB1 REST
2 11.17 CTNNB1 REST
3 10.77 CTNNB1 REST

GO Terms for Wilms Tumor 6

Biological processes related to Wilms Tumor 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 9.43 CTNNB1 REST
2 transcription by RNA polymerase II GO:0006366 9.4 CTNNB1 REST
3 positive regulation of transcription, DNA-templated GO:0045893 9.37 CTNNB1 REST
4 regulation of transcription by RNA polymerase II GO:0006357 9.32 CTNNB1 REST
5 negative regulation of transcription, DNA-templated GO:0045892 9.26 CTNNB1 REST
6 negative regulation of cell proliferation GO:0008285 9.16 CTNNB1 REST
7 positive regulation of apoptotic process GO:0043065 8.96 CTNNB1 REST
8 negative regulation of gene expression GO:0010629 8.62 CTNNB1 REST

Molecular functions related to Wilms Tumor 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 9.16 CTNNB1 REST
2 transcription factor binding GO:0008134 8.96 CTNNB1 REST
3 transcription regulatory region DNA binding GO:0044212 8.62 CTNNB1 REST

Sources for Wilms Tumor 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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