WT1
MCID: HRD009
MIFTS: 35

Hereditary Wilms' Tumor (WT1)

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

Aliases & Classifications for Hereditary Wilms' Tumor

MalaCards integrated aliases for Hereditary Wilms' Tumor:

Name: Hereditary Wilms' Tumor 12 15 74
Hereditary Wilms Tumor 12
Wt1 12

Classifications:



External Ids:

Disease Ontology 12 DOID:5183
NCIt 51 C8496
UMLS 74 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 PAX6 (Paired Box 6), and among its related pathways/superpathways are p70S6K Signaling and DNA Damage. Related phenotypes are Apoptosis resistance and mortality/aging

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 242)
# Related Disease Score Top Affiliating Genes
1 wilms tumor 1 33.1 CDC73 CDKN1C PAX6 REST WT1
2 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 32.2 PAX6 WT1
3 hemihyperplasia, isolated 31.6 CDKN1C WT1
4 iris disease 31.6 PAX6 WT1
5 frasier syndrome 12.2
6 denys-drash syndrome 12.1
7 nephrotic syndrome, type 4 12.0
8 leukemia 11.6
9 wilms tumor 5 11.6
10 myeloid leukemia 11.5
11 meacham syndrome 11.5
12 nephrotic syndrome 11.5
13 focal segmental glomerulosclerosis 11.5
14 acute leukemia 11.5
15 diffuse mesangial sclerosis 11.5
16 myelodysplastic syndrome 11.5
17 desmoplastic small round cell tumor 11.4
18 ewing sarcoma 11.4
19 sarcoma 11.4
20 endometrial cancer 11.4
21 kidney disease 11.4
22 hypospadias 11.4
23 pseudohermaphroditism 11.4
24 clear cell sarcoma 11.4
25 congenital mesoblastic nephroma 11.4
26 malignant pleural mesothelioma 11.4
27 gonadal dysgenesis 11.3
28 gonadoblastoma 11.3
29 leukemia, acute myeloid 11.3
30 diaphragmatic hernia, congenital 11.3
31 sertoli cell tumor 11.3
32 premature ovarian failure 1 11.3
33 crescentic glomerulonephritis 11.3
34 peritoneal mesothelioma 11.3
35 dysgerminoma 11.3
36 acute promyelocytic leukemia 11.3
37 cytogenetically normal acute myeloid leukemia 11.3
38 renal cell carcinoma, nonpapillary 11.2
39 leukemia, chronic myeloid 11.2
40 46 xy gonadal dysgenesis 11.2
41 hypereosinophilic syndrome, idiopathic 11.2
42 familial nephrotic syndrome 11.2
43 chronic eosinophilic leukemia 11.2
44 cerebellar angioblastoma 11.2
45 uterine sarcoma 11.2
46 core binding factor acute myeloid leukemia 11.2
47 mesothelioma, malignant 11.2
48 ovarian cancer 1 11.1
49 meacham winn culler syndrome 11.1
50 aniridia 1 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:

27
# 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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.65 ALK CDC73 CTR9 PAX6 PHOX2B PPP2R1A
2 neoplasm MP:0002006 9.1 ALK CDC73 PAX6 PPP2R1A PPP6C 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

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 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.71 ALK PPP2R1A PPP2R1B PTPA SPON1
2 12.14 CDC73 CDKN1C PPP2R1A PTPA
3
Show member pathways
11.92 PPP2R1A PPP2R1B PTPA
4
Show member pathways
11.91 PPP2R1A PPP2R1B PTPA SPON1
5
Show member pathways
11.81 CDKN1C PPP2R1A PPP2R1B PTPA
6
Show member pathways
11.77 PPP2R1A PPP2R1B PTPA SPON1
7
Show member pathways
11.74 PPP2R1A PPP2R1B PTPA
8 11.68 PPP2R1A PPP2R1B PTPA
9
Show member pathways
11.46 PPP2R1A PPP2R1B PTPA
10 11.37 PPP2R1A PPP2R1B PTPA
11 11.28 PPP2R1A PPP2R1B PTPA
12
Show member pathways
11.08 PPP2R1A PPP2R1B
13 10.86 PPP2R1A PPP2R1B PTPA
14 10.36 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 Cdc73/Paf1 complex GO:0016593 8.96 CDC73 CTR9
2 protein phosphatase type 2A complex GO:0000159 8.8 PPP2R1A PPP2R1B PTPA

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.97 CDC73 CTR9 PAX6 PHOX2B REST WT1
2 protein dephosphorylation GO:0006470 9.76 PPP2R1A PPP2R1B PPP6C
3 camera-type eye development GO:0043010 9.61 CDKN1C PAX6 WT1
4 negative regulation of epithelial cell proliferation GO:0050680 9.58 CDC73 CDKN1C PAX6
5 negative regulation of neurogenesis GO:0050768 9.57 PAX6 REST
6 adrenal gland development GO:0030325 9.56 CDKN1C WT1
7 negative regulation of myeloid cell differentiation GO:0045638 9.55 CDC73 CTR9
8 negative regulation of cell proliferation GO:0008285 9.55 CDC73 PAX6 PHOX2B REST WT1
9 positive regulation of transcription elongation from RNA polymerase II promoter GO:0032968 9.54 CDC73 CTR9
10 negative regulation of neuron differentiation GO:0045665 9.54 PAX6 PHOX2B REST
11 histone monoubiquitination GO:0010390 9.52 CDC73 CTR9
12 positive regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001241 9.51 PPP2R1A PPP2R1B
13 histone H2B ubiquitination GO:0033523 9.48 CDC73 CTR9
14 histone modification GO:0016570 9.46 CDC73 CTR9
15 regulation of phosphoprotein phosphatase activity GO:0043666 9.43 PPP2R1A PPP2R1B PTPA
16 negative regulation of transcription by RNA polymerase II GO:0000122 9.43 CDC73 CDKN1C CTR9 PAX6 REST WT1
17 endodermal cell fate commitment GO:0001711 9.32 CDC73 CTR9
18 transcription by RNA polymerase II GO:0006366 8.8 CDC73 CTR9 PAX6
19 regulation of transcription, DNA-templated GO:0006355 10.05 CTR9 PAX6 PHOX2B PPP2R1A REST WT1

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

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.43 PAX6 REST WT1
2 RNA polymerase II core promoter sequence-specific DNA binding GO:0000979 9.16 PAX6 REST
3 protein serine/threonine phosphatase activity GO:0004722 9.13 PPP2R1A PPP2R1B PPP6C
4 protein phosphatase regulator activity GO:0019888 8.8 PPP2R1A PPP2R1B PTPA

Sources for Hereditary Wilms' Tumor

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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