MCID: HRD009
MIFTS: 46

Hereditary Wilms' Tumor

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

Aliases & Classifications for Hereditary Wilms' Tumor

MalaCards integrated aliases for Hereditary Wilms' Tumor:

Name: Hereditary Wilms' Tumor 12 14 69
Hereditary Wilms Tumor 12
Wt1 12

Classifications:



External Ids:

Disease Ontology 12 DOID:5183
NCIt 46 C8496
UMLS 69 C0677779

Summaries for Hereditary Wilms' Tumor

Disease Ontology : 12 A nephroblastoma that results_in either bilateral disease or a family history of Wilms' tumour.

MalaCards based summary : Hereditary Wilms' Tumor, also known as hereditary wilms tumor, is related to wilms tumor 1 and wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome, and has symptoms including abdominal pain An important gene associated with Hereditary Wilms' Tumor is WT1 (Wilms Tumor 1), and among its related pathways/superpathways are Akt Signaling and Nanog in Mammalian ESC Pluripotency. Related phenotypes are Apoptosis resistance and growth/size/body region

Related Diseases for Hereditary Wilms' Tumor

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 Hereditary Wilms' Tumor via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 257)
# Related Disease Score Top Affiliating Genes
1 wilms tumor 1 33.2 CDC73 IGF2 REST WT1
2 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 32.1 IGF2 PAX6 WT1
3 aniridia 1 31.9 IGF2 PAX6 WT1
4 wilms tumor 5 31.9 CDKN1C IGF2 PAX6 WT1
5 hemihyperplasia, isolated 31.8 CDKN1C IGF2 WT1
6 congenital mesoblastic nephroma 31.7 IGF2 WT1
7 ovarian cancer 1 31.6 HRAS PPP2R1A WT1
8 melanomatosis 31.5 HRAS WT1
9 adult fibrosarcoma 31.5 HRAS WT1
10 iris disease 31.2 IGF2 PAX6 WT1
11 beckwith-wiedemann syndrome 31.1 CDKN1C IGF2 WT1
12 hematologic cancer 31.0 ALK HRAS WT1
13 frasier syndrome 12.0
14 denys-drash syndrome 11.9
15 nephrotic syndrome, type 4 11.7
16 meacham syndrome 11.4
17 nephrotic syndrome 11.3
18 myeloid leukemia 11.3
19 myelodysplastic syndrome 11.3
20 focal segmental glomerulosclerosis 11.3
21 acute leukemia 11.3
22 diffuse mesangial sclerosis 11.3
23 desmoplastic small round cell tumor 11.3
24 ewing sarcoma 11.2
25 kidney disease 11.2
26 hypospadias 11.2
27 pseudohermaphroditism 11.2
28 clear cell sarcoma 11.2
29 adenomatoid tumor 11.2
30 malignant pleural mesothelioma 11.2
31 gonadal dysgenesis 11.2
32 gonadoblastoma 11.2
33 diaphragmatic hernia, congenital 11.1
34 cryptorchidism, unilateral or bilateral 11.1
35 sertoli cell tumor 11.1
36 premature ovarian failure 1 11.1
37 ovarian serous carcinoma 11.1
38 crescentic glomerulonephritis 11.1
39 peritoneal mesothelioma 11.1
40 leukemia, acute myeloid 11.1
41 leukemia, chronic myeloid 11.1
42 cytogenetically normal acute myeloid leukemia 11.1
43 renal cell carcinoma, nonpapillary 11.1
44 hypereosinophilic syndrome, idiopathic 11.1
45 uterine sarcoma 11.1
46 osteogenic sarcoma 11.0
47 46 xy gonadal dysgenesis 11.0
48 cerebellar angioblastoma 11.0
49 core binding factor acute myeloid leukemia 11.0
50 chronic eosinophilic leukemia 11.0

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



Diseases related to Hereditary Wilms' Tumor

Symptoms & Phenotypes for Hereditary Wilms' Tumor

UMLS symptoms related to Hereditary Wilms' Tumor:


abdominal pain

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Apoptosis resistance GR00093-A-0 8.92 PPP2R1A PPP2R1B PPP6C PTPA

MGI Mouse Phenotypes related to Hereditary Wilms' Tumor:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.96 IGF2 PAX6 PHOX2B PPP2R1A ALK CDC73
2 mortality/aging MP:0010768 9.93 PAX6 PHOX2B PPP2R1A ALK PPP6C CDC73
3 embryo MP:0005380 9.87 IGF2 PAX6 PHOX2B PPP6C CDC73 REST
4 neoplasm MP:0002006 9.5 PAX6 PPP2R1A ALK PPP6C CDC73 WT1
5 respiratory system MP:0005388 9.17 IGF2 PAX6 PHOX2B ALK CDC73 WT1

Drugs & Therapeutics for Hereditary Wilms' Tumor

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Gene Mutation in Samples From Young Patients With Pleuropulmonary Blastoma Syndrome at Risk for Developing Cancer Completed NCT01353300
2 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268

Search NIH Clinical Center for Hereditary Wilms' Tumor

Genetic Tests for Hereditary Wilms' Tumor

Anatomical Context for Hereditary Wilms' Tumor

Publications for Hereditary Wilms' Tumor

Articles related to Hereditary Wilms' Tumor:

(show top 50) (show all 980)
# Title Authors Year
1
WT1 Gene Mutation, p.R462W, in a 46,XY DSD Patient from Egypt with Gonadoblastoma and Review of the Literature. ( 29320783 )
2018
2
A regulatory circuitry between miR-193a/miR-600 and WT1 enhances leukemogenesis in acute myeloid leukemia. ( 29452230 )
2018
3
Immunoreactivity of Wilms tumor 1 (WT1) as an additional evidence supporting hemangiomatous rather than inflammatory origin in the etiopathogenesis of angiolymphoid hyperplasia with eosinophilia. ( 29445571 )
2018
4
Prognostic significance of The Wilms' Tumor-1 (WT1) rs16754 polymorphism in acute myeloid leukemia. ( 29407184 )
2018
5
Acute myeloid leukemia with del(9q) is characterized by frequent mutations of NPM1, DNMT3A, WT1 and low expression of TLE4. ( 27636548 )
2017
6
Role for first zinc finger of WT1 in DNA sequence specificity: Denys-Drash syndrome-associated WT1 mutant in ZF1 enhances affinity for a subset of WT1 binding sites. ( 29294058 )
2017
7
Cytoplasmic Localization of WT1 and Decrease of miRNA-16-1 in Nephrotic Syndrome. ( 28299339 )
2017
8
Wilms Tumor 1 (WT1) mRNA Expression Level at Diagnosis Is a Significant Prognostic Marker in Elderly Patients with Myelodysplastic Syndrome. ( 27866185 )
2017
9
A phase 1/2 study of the WT1 peptide cancer vaccine WT4869 in patients with myelodysplastic syndrome. ( 28949050 )
2017
10
Hemolytic uremic syndrome as the presenting manifestation of WT1 mutation and Denys-Drash syndrome: a case report. ( 28720077 )
2017
11
WT1 Haploinsufficiency Supports Milder Renal Manifestation in Two Patients with Denys-Drash Syndrome. ( 28081536 )
2017
12
Screening of WT1 mutations in exon 8 and 9 in children with steroid resistant nephrotic syndrome from a single centre and establishment of a rapid screening assay using high-resolution melting analysis in a clinical setting. ( 28068926 )
2017
13
WT1 Alternative Splicing: Role of Its Isoforms in Neuroblastoma. ( 28534317 )
2017
14
WT1 mutation-associated nephropathy: aA single-center experiencea8c. ( 28257282 )
2017
15
Concomitant monitoring of WT1 and FLT3-ITD expression in FLT3-ITD acute myeloid leukemia patients: which should we trust as a minimal residual disease marker? ( 28211167 )
2017
16
Anti-apoptotic quinolinate phosphoribosyltransferase (QPRT) is a target gene of Wilms' tumor gene 1 (WT1) protein in leukemic cells. ( 27889611 )
2017
17
Novel Function of a Transcription Factor WT1 in Regulating Decidualization in Human Endometrial Stromal Cells and Its Molecular Mechanism. ( 28977591 )
2017
18
The Wilms tumor protein Wt1 contributes to female fertility by regulating oviductal proteostasis. ( 28334862 )
2017
19
Predictive value of pretransplantation molecular minimal residual disease assessment by WT1 gene expression in FLT3-positive acute myeloid leukemia. ( 28159598 )
2017
20
WT1 Expression in Patients with Myelodysplastic Syndromes: A Variety of Possibilities in Future Clinical Practice. ( 27871071 )
2017
21
Bone Marrow WT1 Levels in Allogeneic Hematopoietic Stem Cell Transplant (HCT) for Acute Myeloid Leukemia and Myelodysplasia: Clinically Relevant Time-Points and 100 Copies Threshold Value. ( 28939453 )
2017
22
The role of WT1 isoforms in vasculogenic mimicry and metastatic potential of human triple negative breast cancer cells. ( 29024629 )
2017
23
The CUG-translated WT1, not AUG-WT1, is an oncogene. ( 29040381 )
2017
24
MicroRNA-193a inhibits breast cancer proliferation and metastasis by downregulating WT1. ( 29016617 )
2017
25
Nephron, Wilms' tumor-1 (WT1), and synaptopodin expression in developing podocytes of mice. ( 28179596 )
2017
26
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
27
WT1 and NPHS2 gene mutation analysis and clinical management of steroid-resistant nephrotic syndrome. ( 27885584 )
2016
28
Aberrant methylation of tumour suppressor genes WT1, GATA5 and PAX5 in hepatocellular carcinoma. ( 27171388 )
2016
29
Wilms tumor gene 1 (WT1), TP53, RAS/BRAF and KIT aberrations in testicular germ cell tumors. ( 27085458 )
2016
30
Denys-Drash syndrome associated WT1 glutamine 369 mutants have altered sequence-preferences and altered responses to epigenetic modifications. ( 27596598 )
2016
31
Repression of CMIP transcription by WT1 is relevant to podocyte health. ( 27650733 )
2016
32
Assessment of WT1 Expression as a Marker of Treatment Outcome in Karyotype Normal Acute Myeloid Leukemia Patients in Pakistan. ( 27225156 )
2016
33
Association of WT1 IgG antibody against WT1 peptide with prolonged survival in glioblastoma multiforme patients vaccinated with WT1 peptide. ( 27170523 )
2016
34
Low WT1 transcript levels at diagnosis predicted poor outcomes of acute myeloid leukemia patients with t(8;21) who received chemotherapy or allogeneic hematopoietic stem cell transplantation. ( 27197573 )
2016
35
Mutations in WT1 in boys with sporadic isolated steroid-resistant nephrotic syndrome. ( 26985958 )
2016
36
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
37
The Wilms Tumor-1 (WT1) rs16754 polymorphism is a prognostic factor in acute myeloid leukemia (AML): a meta-analysis. ( 26992216 )
2016
38
A systematic review and meta-analysis of the impact of WT1 polymorphism rs16754 in the effectiveness of standard chemotherapy in patients with acute myeloid leukemia. ( 26644203 )
2016
39
WT1 mutations in steroid-resistant idiopathic nephrotic syndrome. ( 26997404 )
2016
40
The roadmap of WT1 protein expression in the human fetal heart. ( 26686990 )
2016
41
A 4-gene expression score associated with high levels of Wilms Tumor-1 (WT1) expression is an adverse prognostic factor in acute myeloid leukaemia. ( 26597595 )
2016
42
Immunotherapy in Acute Leukemias: Implications and Perspectives Using Wt1 Antigen. ( 27466479 )
2016
43
WT1 is involved in the Akt-JNK pathway dependent autophagy through directly regulating Gas1 expression in human osteosarcoma cells. ( 27453337 )
2016
44
The Wilms Tumor-1 (WT1) rs2234593 variant is a prognostic factor in normal karyotype acute myeloid leukemia. ( 26499507 )
2016
45
A genome-wide association study identifies WT1 variant with better response to 5-fluorouracil, pirarubicin and cyclophosphamide neoadjuvant chemotherapy in breast cancer patients. ( 26573232 )
2016
46
WT1 Expression in Adult Acute Myeloid Leukemia: Assessing its Presence, Magnitude and Temporal Changes as Prognostic Factors. ( 26531831 )
2016
47
Downregulation of the WT1 gene expression via TMPyP4 stabilization of promoter G-quadruplexes in leukemia cells. ( 26815508 )
2016
48
Wilms' tumor 1 (WT1)-targeted cancer vaccines to extend survival for patients with pancreatic cancer. ( 27993090 )
2016
49
Refining the Diagnosis of Congenital Nephrotic Syndrome on Long-term Stored Tissue: c.1097G>A (p.(Arg366His)) WT1 Mutation Causing Denys Drash Syndrome. ( 26882358 )
2016
50
Conditional deletion of WT1 in the septum transversum mesenchyme causes congenital diaphragmatic hernia in mice. ( 27642710 )
2016

Variations for Hereditary Wilms' Tumor

Expression for Hereditary Wilms' Tumor

Search GEO for disease gene expression data for Hereditary Wilms' Tumor.

Pathways for Hereditary Wilms' Tumor

Pathways related to Hereditary Wilms' Tumor according to GeneCards Suite gene sharing:

(show all 20)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.21 ALK HRAS IGF2 PPP2R1A PPP2R1B PTPA
2
Show member pathways
13.04 ALK HRAS IGF2 PPP2R1A PPP2R1B PTPA
3
Show member pathways
12.61 ALK HRAS IGF2 PPP2R1A PPP2R1B PTPA
4
Show member pathways
12.45 HRAS PPP2R1A PPP2R1B PTPA
5
Show member pathways
12.34 HRAS PPP2R1A PPP2R1B PTPA
6 12.27 CDC73 CDKN1C PPP2R1A PTPA
7
Show member pathways
12.08 CDKN1C PPP2R1A PPP2R1B PTPA
8
Show member pathways
11.99 PPP2R1A PPP2R1B PTPA
9 11.89 HRAS PAX6 REST
10 11.85 HRAS PPP2R1A PPP2R1B
11 11.78 HRAS PPP2R1A PPP2R1B
12
Show member pathways
11.61 PPP2R1A PPP2R1B PTPA
13 11.48 PPP2R1A PPP2R1B PTPA
14 11.46 HRAS PPP2R1A PPP2R1B PTPA
15
Show member pathways
11.39 HRAS PPP2R1A PPP2R1B
16 11.32 HRAS PPP2R1A PPP2R1B
17 11.22 PPP2R1A PPP2R1B PTPA
18
Show member pathways
11.01 HRAS PPP2R1A PPP2R1B PTPA
19
Show member pathways
10.99 HRAS IGF2
20 10.69 PPP2R1A PPP2R1B PTPA

GO Terms for Hereditary Wilms' Tumor

Cellular components related to Hereditary Wilms' Tumor according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein phosphatase type 2A complex GO:0000159 8.96 PPP2R1A PTPA
2 Cdc73/Paf1 complex GO:0016593 8.62 CDC73 CTR9

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 9.73 CDC73 CTR9 IGF2 PAX6 REST WT1
2 positive regulation of transcription by RNA polymerase II GO:0045944 9.7 CDC73 CTR9 HRAS PAX6 PHOX2B REST
3 negative regulation of epithelial cell proliferation GO:0050680 9.58 CDC73 CDKN1C PAX6
4 negative regulation of myeloid cell differentiation GO:0045638 9.55 CDC73 CTR9
5 negative regulation of neurogenesis GO:0050768 9.54 PAX6 REST
6 negative regulation of neuron differentiation GO:0045665 9.54 PAX6 PHOX2B REST
7 positive regulation of transcription elongation from RNA polymerase II promoter GO:0032968 9.51 CDC73 CTR9
8 histone monoubiquitination GO:0010390 9.49 CDC73 CTR9
9 positive regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001241 9.48 PPP2R1A PPP2R1B
10 histone H2B ubiquitination GO:0033523 9.46 CDC73 CTR9
11 histone modification GO:0016570 9.43 CDC73 CTR9
12 transcription by RNA polymerase II GO:0006366 9.43 CDC73 CTR9 PAX6 PHOX2B REST WT1
13 endodermal cell fate commitment GO:0001711 9.32 CDC73 CTR9
14 negative regulation of cell proliferation GO:0008285 9.1 CDC73 HRAS PAX6 PHOX2B REST WT1
15 regulation of transcription, DNA-templated GO:0006355 10.13 CDC73 CTR9 IGF2 PAX6 PHOX2B PPP2R1A

Sources for Hereditary Wilms' Tumor

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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