MCID: HRD009
MIFTS: 36

Hereditary Wilms' Tumor

Categories: Cancer diseases, Nephrological diseases, Genetic diseases, Rare diseases, Fetal 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 TGF-Beta Pathway and Akt Signaling. 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 250)
# Related Disease Score Top Affiliating Genes
1 wilms tumor 1 32.9 CDC73 IGF2 REST WT1
2 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 32.4 IGF2 PAX6 WT1
3 wilms tumor 5 32.0 CDKN1C IGF2 PAX6 WT1
4 congenital mesoblastic nephroma 31.9 IGF2 WT1
5 melanomatosis 31.8 HRAS WT1
6 aniridia 1 31.7 IGF2 PAX6 WT1
7 adult fibrosarcoma 31.7 HRAS WT1
8 iris disease 31.5 IGF2 PAX6 WT1
9 hemihyperplasia, isolated 31.4 CDKN1C IGF2 WT1
10 beckwith-wiedemann syndrome 31.2 CDKN1C IGF2 WT1
11 renal cell carcinoma, papillary, 1 30.9 CDC73 HRAS WT1
12 hematologic cancer 30.5 ALK CDKN1C HRAS WT1
13 frasier syndrome 12.0
14 denys-drash syndrome 11.9
15 nephrotic syndrome, type 4 11.7
16 leukemia 11.4
17 myeloid leukemia 11.4
18 meacham syndrome 11.4
19 nephrotic syndrome 11.3
20 focal segmental glomerulosclerosis 11.3
21 diffuse mesangial sclerosis 11.3
22 myelodysplastic syndrome 11.3
23 acute leukemia 11.3
24 desmoplastic small round cell tumor 11.3
25 ewing sarcoma 11.2
26 kidney disease 11.2
27 hypospadias 11.2
28 sex cord-gonadal stromal tumor 11.2
29 pseudohermaphroditism 11.2
30 clear cell sarcoma 11.2
31 adenomatoid tumor 11.2
32 malignant pleural mesothelioma 11.2
33 gonadal dysgenesis 11.2
34 gonadoblastoma 11.2
35 diaphragmatic hernia, congenital 11.1
36 sertoli cell tumor 11.1
37 premature ovarian failure 1 11.1
38 crescentic glomerulonephritis 11.1
39 peritoneal mesothelioma 11.1
40 leukemia, acute myeloid 11.1
41 cytogenetically normal acute myeloid leukemia 11.1
42 acute promyelocytic leukemia 11.1
43 renal cell carcinoma, nonpapillary 11.1
44 leukemia, chronic myeloid 11.1
45 hypereosinophilic syndrome, idiopathic 11.1
46 uterine sarcoma 11.1
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:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Apoptosis resistance GR00093-A-0 8.92 PPP6C PTPA PPP2R1A PPP2R1B

MGI Mouse Phenotypes related to Hereditary Wilms' Tumor:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 10.03 PPP2R1A CDC73 PPP6C PTPA CTR9 REST
2 growth/size/body region MP:0005378 10.02 ALK PPP2R1A CDC73 CTR9 REST HRAS
3 embryo MP:0005380 9.91 PHOX2B CDC73 PPP6C REST WT1 IGF2
4 neoplasm MP:0002006 9.7 PPP2R1A CDC73 PPP6C HRAS WT1 PAX6
5 reproductive system MP:0005389 9.5 ALK PPP2R1B CDC73 REST WT1 IGF2
6 respiratory system MP:0005388 9.17 ALK CDC73 HRAS WT1 IGF2 PAX6

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 22)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.31 ALK HRAS IGF2 PPP2R1A PPP2R1B PTPA
2
Show member pathways
13.21 ALK HRAS IGF2 PPP2R1A PPP2R1B PTPA
3
Show member pathways
13.05 ALK HRAS IGF2 PPP2R1A PPP2R1B PTPA
4
Show member pathways
12.68 ALK HRAS IGF2 PPP2R1A PPP2R1B PTPA
5
Show member pathways
12.46 HRAS PPP2R1A PPP2R1B PTPA
6
Show member pathways
12.36 HRAS PPP2R1A PPP2R1B PTPA
7 12.28 CDC73 CDKN1C PPP2R1A PTPA
8
Show member pathways
12.11 CDKN1C PPP2R1A PPP2R1B PTPA
9
Show member pathways
12 PPP2R1A PPP2R1B PTPA
10 11.89 HRAS PAX6 REST
11 11.86 HRAS PPP2R1A PPP2R1B
12 11.8 HRAS PPP2R1A PPP2R1B
13
Show member pathways
11.67 HRAS IGF2 PPP2R1A PPP2R1B PTPA
14
Show member pathways
11.63 PPP2R1A PPP2R1B PTPA
15 11.5 PPP2R1A PPP2R1B PTPA
16
Show member pathways
11.42 HRAS PPP2R1A PPP2R1B
17 11.36 HRAS PPP2R1A PPP2R1B
18 11.27 PPP2R1A PPP2R1B PTPA
19 11.14 HRAS PPP2R1A PPP2R1B PTPA
20
Show member pathways
11.01 HRAS IGF2
21
Show member pathways
11.01 HRAS PPP2R1A PPP2R1B PTPA
22 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 17)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of MAPK cascade GO:0043410 9.74 ALK HRAS IGF2
2 negative regulation of transcription by RNA polymerase II GO:0000122 9.73 CDC73 CTR9 IGF2 PAX6 REST WT1
3 animal organ morphogenesis GO:0009887 9.71 HRAS IGF2 PAX6
4 transcription by RNA polymerase II GO:0006366 9.63 CDC73 CTR9 PAX6 PHOX2B REST WT1
5 negative regulation of neuron differentiation GO:0045665 9.58 PAX6 PHOX2B REST
6 negative regulation of myeloid cell differentiation GO:0045638 9.56 CDC73 CTR9
7 negative regulation of neurogenesis GO:0050768 9.55 PAX6 REST
8 negative regulation of epithelial cell proliferation GO:0050680 9.54 CDC73 CDKN1C PAX6
9 positive regulation of transcription elongation from RNA polymerase II promoter GO:0032968 9.51 CDC73 CTR9
10 histone monoubiquitination GO:0010390 9.49 CDC73 CTR9
11 positive regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001241 9.48 PPP2R1A PPP2R1B
12 histone modification GO:0016570 9.46 CDC73 CTR9
13 histone H2B ubiquitination GO:0033523 9.43 CDC73 CTR9
14 negative regulation of cell proliferation GO:0008285 9.43 CDC73 HRAS PAX6 PHOX2B REST WT1
15 endodermal cell fate commitment GO:0001711 9.32 CDC73 CTR9
16 positive regulation of transcription by RNA polymerase II GO:0045944 9.23 CDC73 CTR9 HRAS IGF2 PAX6 PHOX2B
17 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
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....