WT1
MCID: HRD009
MIFTS: 38

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 73
Hereditary Wilms Tumor 12
Wt1 12

Classifications:



External Ids:

Disease Ontology 12 DOID:5183
NCIt 50 C8496
UMLS 73 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. Affiliated tissues include bone, lung and kidney, and 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 243)
# Related Disease Score Top Affiliating Genes
1 wilms tumor 1 33.0 WT1 REST PAX6 IGF2 CDKN1C CDC73
2 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 32.2 WT1 PAX6 IGF2
3 aniridia 1 32.0 WT1 PAX6 IGF2
4 congenital mesoblastic nephroma 32.0 WT1 IGF2
5 iris disease 31.3 WT1 PAX6 IGF2
6 hemihyperplasia, isolated 31.3 WT1 IGF2 CDKN1C
7 beckwith-wiedemann syndrome 31.2 WT1 IGF2 CDKN1C
8 frasier syndrome 12.1
9 denys-drash syndrome 12.0
10 nephrotic syndrome, type 4 11.9
11 leukemia 11.6
12 myeloid leukemia 11.5
13 meacham syndrome 11.5
14 nephrotic syndrome 11.5
15 focal segmental glomerulosclerosis 11.5
16 diffuse mesangial sclerosis 11.5
17 acute leukemia 11.4
18 myelodysplastic syndrome 11.4
19 desmoplastic small round cell tumor 11.4
20 ewing sarcoma 11.4
21 sarcoma 11.4
22 kidney disease 11.4
23 hypospadias 11.3
24 pseudohermaphroditism 11.3
25 clear cell sarcoma 11.3
26 malignant pleural mesothelioma 11.3
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 11.2
37 cytogenetically normal acute myeloid leukemia 11.2
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 cerebellar angioblastoma 11.2
44 uterine sarcoma 11.2
45 core binding factor acute myeloid leukemia 11.2
46 chronic eosinophilic leukemia 11.2
47 mesothelioma, malignant 11.2
48 ovarian cancer 1 11.1
49 meacham winn culler syndrome 11.1
50 sex cord-gonadal stromal tumor 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:

26
# 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 10 ALK CDC73 CTR9 IGF2 PAX6 PHOX2B
2 growth/size/body region MP:0005378 9.97 ALK CDC73 CTR9 IGF2 PAX6 PHOX2B
3 embryo MP:0005380 9.91 CDC73 IGF2 PAX6 PHOX2B PPP6C REST
4 neoplasm MP:0002006 9.63 ALK CDC73 PAX6 PPP2R1A PPP6C WT1
5 reproductive system MP:0005389 9.5 ALK CDC73 IGF2 PAX6 PPP2R1B REST
6 respiratory system MP:0005388 9.1 ALK CDC73 IGF2 PAX6 PHOX2B 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

MalaCards organs/tissues related to Hereditary Wilms' Tumor:

41
Bone, Lung, Kidney, Ovary, Prostate, Myeloid, Bone Marrow

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 IGF2 PPP2R1A PPP2R1B PTPA
2 12.14 CDC73 CDKN1C PPP2R1A PTPA
3
Show member pathways
11.92 PPP2R1A PPP2R1B PTPA
4
Show member pathways
11.91 IGF2 PPP2R1A PPP2R1B PTPA
5
Show member pathways
11.81 CDKN1C PPP2R1A PPP2R1B PTPA
6
Show member pathways
11.77 IGF2 PPP2R1A PPP2R1B PTPA
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 20)
# Name GO ID Score Top Affiliating Genes
1 protein dephosphorylation GO:0006470 9.77 PPP2R1A PPP2R1B PPP6C
2 positive regulation of transcription by RNA polymerase II GO:0045944 9.7 CDC73 CTR9 IGF2 PAX6 PHOX2B REST
3 camera-type eye development GO:0043010 9.65 CDKN1C PAX6 WT1
4 negative regulation of cell proliferation GO:0008285 9.65 CDC73 PAX6 PHOX2B REST WT1
5 negative regulation of epithelial cell proliferation GO:0050680 9.63 CDC73 CDKN1C PAX6
6 negative regulation of neuron differentiation GO:0045665 9.61 PAX6 PHOX2B REST
7 negative regulation of neurogenesis GO:0050768 9.58 PAX6 REST
8 adrenal gland development GO:0030325 9.58 CDKN1C WT1
9 negative regulation of myeloid cell differentiation GO:0045638 9.57 CDC73 CTR9
10 positive regulation of transcription elongation from RNA polymerase II promoter GO:0032968 9.56 CDC73 CTR9
11 histone monoubiquitination GO:0010390 9.55 CDC73 CTR9
12 positive regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001241 9.54 PPP2R1A PPP2R1B
13 histone H2B ubiquitination GO:0033523 9.52 CDC73 CTR9
14 histone modification GO:0016570 9.51 CDC73 CTR9
15 regulation of phosphoprotein phosphatase activity GO:0043666 9.5 PPP2R1A PPP2R1B PTPA
16 transcription by RNA polymerase II GO:0006366 9.43 CDC73 CTR9 PAX6 PHOX2B REST WT1
17 embryonic placenta morphogenesis GO:0060669 9.4 CDKN1C IGF2
18 endodermal cell fate commitment GO:0001711 9.37 CDC73 CTR9
19 negative regulation of transcription by RNA polymerase II GO:0000122 9.17 CDC73 CDKN1C CTR9 IGF2 PAX6 REST
20 regulation of transcription, DNA-templated GO:0006355 10.04 CTR9 IGF2 PAX6 PHOX2B PPP2R1A REST

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....