MCID: WLM012
MIFTS: 26

Wilms Tumor Predisposition

Aliases & Classifications for Wilms Tumor Predisposition

MalaCards integrated aliases for Wilms Tumor Predisposition:

Name: Wilms Tumor Predisposition 24

Summaries for Wilms Tumor Predisposition

MalaCards based summary : Wilms Tumor Predisposition is related to perlman syndrome and wilms tumor 2. An important gene associated with Wilms Tumor Predisposition is DIS3L2 (DIS3 Like 3'-5' Exoribonuclease 2), and among its related pathways/superpathways are DNA Damage and Glioblastoma Multiforme. Affiliated tissues include kidney, ovary and myeloid, and related phenotypes are Decreased sensitivity to paclitaxel and growth/size/body region

GeneReviews: NBK1294

Related Diseases for Wilms Tumor Predisposition

Diseases related to Wilms Tumor Predisposition via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 107)
# Related Disease Score Top Affiliating Genes
1 perlman syndrome 30.6 GPC3 DIS3L2 DICER1
2 wilms tumor 2 29.9 WT2 H19-ICR H19
3 sotos syndrome 1 29.8 NSD1 NF1 GPC3
4 simpson-golabi-behmel syndrome, type 1 29.7 GPC4 GPC3
5 wilms tumor 5 29.4 WT1 IGF2 H19 GPC3 CDKN1C
6 overgrowth syndrome 29.4 NSD1 IGF2 H19-ICR GPC3 DIS3L2
7 li-fraumeni syndrome 29.3 TP53 NF1 IGF2 BRCA2
8 wilms tumor 1 26.7 WT1 TP53 KCNQ1OT1 IGF2 H19 GPC4
9 beckwith-wiedemann syndrome 26.4 WT1 TP53 NSD1 KCNQ1OT1 KCNQ1 IGF2
10 silver-russell syndrome due to a point mutation 10.4 IGF2 CDKN1C
11 silver-russell syndrome due to 11p15 microduplication 10.4 IGF2 H19
12 silver-russell syndrome due to an imprinting defect of 11p15 10.4 IGF2 H19
13 simpson-golabi-behmel syndrome 10.3 GPC4 GPC3
14 comedo carcinoma 10.2 TP53 BLM
15 macroglossia 10.2 NSD1 CDKN1C
16 gingival fibromatosis 10.1 KCNQ1 H19 CDKN1C
17 marek disease 10.1 TP53 H19
18 spastic paraplegia 17, autosomal dominant 10.1 KCNQ1OT1 IGF2 CDKN1C
19 embryonal sarcoma 10.1 TP53 GPC3
20 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 10.1 KCNQ1OT1 KCNQ1 CDKN1C
21 beckwith-wiedemann syndrome due to imprinting defect of 11p15 10.1 KCNQ1OT1 IGF2 H19
22 transient neonatal diabetes mellitus 10.1 KCNQ1OT1 IGF2 CDKN1C
23 choriocarcinoma 10.1 H19 GPC3 CDKN1C
24 mutagen sensitivity 10.1 TP53 BRCA2
25 fetal macrosomia 10.1 IGF2 H19
26 primary peritoneal carcinoma 10.0 TP53 BRCA2
27 microcystic stromal tumor 10.0 WT1 DICER1
28 hereditary wilms' tumor 10.0 WT1 CDC73
29 leopard syndrome 10.0 NF1 KCNQ1 CDC73
30 ovarian wilms' cancer 10.0 WT1 GPC3
31 kidney sarcoma 10.0 WT1 DICER1
32 ovarian gonadoblastoma 10.0 WT1 GPC3
33 juvenile type testicular granulosa cell tumor 10.0 WT1 DICER1
34 central nervous system primitive neuroectodermal neoplasm 10.0 TP53 DICER1
35 testicular granulosa cell tumor 10.0 WT1 DICER1
36 balanoposthitis 10.0 WT1 H19
37 spinal cord oligodendroglioma 10.0 TP53 NF1
38 hyperparathyroidism 2 with jaw tumors 9.9
39 neurofibromatosis, type i 9.9
40 bloom syndrome 9.9
41 fanconi anemia, complementation group d1 9.9
42 polyhydramnios 9.9
43 familial wilms tumor 2 9.9
44 renal dysplasia 9.9
45 weaver syndrome 9.9 NSD1 GPC3 DIS3L2 CDKN1C
46 gliofibroma 9.9 TP53 NF1
47 atypical teratoid rhabdoid tumor 9.9 TP53 IGF2 BRCA2
48 ovarian sex-cord stromal tumor 9.9 WT1 DICER1
49 adrenal cortical carcinoma 9.9 TP53 IGF2 CDKN1C
50 pleuropulmonary blastoma 9.9 TP53 IGF2 DICER1

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



Diseases related to Wilms Tumor Predisposition

Symptoms & Phenotypes for Wilms Tumor Predisposition

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased sensitivity to paclitaxel GR00112-A-0 8.62 NF1 WT1

MGI Mouse Phenotypes related to Wilms Tumor Predisposition:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.14 BLM BRCA2 CDC73 DICER1 DIS3L2 GPC3
2 cardiovascular system MP:0005385 10.13 BLM CDC73 DICER1 GPC3 IGF2 KCNQ1
3 embryo MP:0005380 10.13 BLM BRCA2 CDC73 DICER1 GPC3 IGF2
4 hematopoietic system MP:0005397 10.07 BLM BRCA2 CDC73 DICER1 GPC3 GPC4
5 digestive/alimentary MP:0005381 10 BRCA2 CDC73 GPC3 IGF2 KCNQ1 NF1
6 integument MP:0010771 9.92 BLM BRCA2 CDC73 DICER1 GPC3 IGF2
7 muscle MP:0005369 9.8 CDC73 DICER1 IGF2 KCNQ1 NF1 TP53
8 neoplasm MP:0002006 9.7 BLM BRCA2 CDC73 DICER1 NF1 TP53
9 renal/urinary system MP:0005367 9.56 CDC73 DICER1 DIS3L2 GPC3 IGF2 NF1
10 respiratory system MP:0005388 9.23 CDC73 DICER1 DIS3L2 GPC3 IGF2 NF1

Drugs & Therapeutics for Wilms Tumor Predisposition

Search Clinical Trials , NIH Clinical Center for Wilms Tumor Predisposition

Genetic Tests for Wilms Tumor Predisposition

Anatomical Context for Wilms Tumor Predisposition

MalaCards organs/tissues related to Wilms Tumor Predisposition:

40
Kidney, Ovary, Myeloid, Cerebellum, Spinal Cord, Skeletal Muscle, Lung

Publications for Wilms Tumor Predisposition

Articles related to Wilms Tumor Predisposition:

(show top 50) (show all 60)
# Title Authors PMID Year
1
Mutations in the transcriptional repressor REST predispose to Wilms tumor. 61 24
26551668 2015
2
Nephroblastomatosis or Wilms tumor in a fourth patient with a somatic PIK3CA mutation. 24
27191687 2016
3
Identification of germline DICER1 mutations and loss of heterozygosity in familial Wilms tumour. 24
26566882 2016
4
A child with Li-Fraumeni syndrome: Modes to inactivate the second allele of TP53 in three different malignancies. 24
25787918 2015
5
WT1 deletion leading to severe 46,XY gonadal dysgenesis, Wilms tumor and gonadoblastoma: case report. 24
25613702 2015
6
Germline mutations in the PAF1 complex gene CTR9 predispose to Wilms tumour. 24
25099282 2014
7
Frequency of WT1 and 11p15 constitutional aberrations and phenotypic correlation in childhood Wilms tumour patients. 24
22796116 2012
8
Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility. 24
22306653 2012
9
Extending the phenotypes associated with DICER1 mutations. 24
21882293 2011
10
Beckwith-Wiedemann syndrome. 24
19550435 2010
11
Gynecological tumors in Mulibrey nanism and role for RING finger protein TRIM37 in the pathogenesis of ovarian fibrothecomas. 24
19329943 2009
12
Constitutional 11p15 abnormalities, including heritable imprinting center mutations, cause nonsyndromic Wilms tumor. 24
18836444 2008
13
Clinical and genetic heterogeneity in patients with mosaic variegated aneuploidy: delineation of clinical subtypes. 24
18548531 2008
14
Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer. 24
17200671 2007
15
Surveillance for Wilms tumour in at-risk children: pragmatic recommendations for best practice. 24
16857697 2006
16
Trisomy 18 in a second 20-year-old woman. 24
16575893 2006
17
End stage renal disease in patients with Wilms tumor: results from the National Wilms Tumor Study Group and the United States Renal Data System. 24
16217371 2005
18
WAGR syndrome: a clinical review of 54 cases. 24
16199712 2005
19
Microcephaly is not mandatory for the diagnosis of mosaic variegated aneuploidy syndrome. 24
16059936 2005
20
Risk of tumorigenesis in overgrowth syndromes: a comprehensive review. 24
16010678 2005
21
Tumor risk in Beckwith-Wiedemann syndrome: A review and meta-analysis. 24
15887271 2005
22
Novel familial WT1 read-through mutation associated with Wilms tumor and slow progressive nephropathy. 24
15957141 2005
23
Biallelic BRCA2 mutations are associated with multiple malignancies in childhood including familial Wilms tumour. 24
15689453 2005
24
Frequency and heritability of WT1 mutations in nonsyndromic Wilms' tumor patients: a UK Children's Cancer Study Group Study. 24
15483024 2004
25
Twenty-four new cases of WT1 germline mutations and review of the literature: genotype/phenotype correlations for Wilms tumor development. 24
15150775 2004
26
Characteristics and outcomes of children with the Wilms tumor-Aniridia syndrome: a report from the National Wilms Tumor Study Group. 24
14673045 2003
27
Prediction by FISH analysis of the occurrence of Wilms tumor in aniridia patients. 24
11920832 2002
28
Recent advances in Wilms tumor genetics. 24
11880727 2002
29
Relative frequency and morphology of cancers in carriers of germline TP53 mutations. 24
11498785 2001
30
Population-based risk estimates of Wilms tumor in sporadic aniridia. A comprehensive mutation screening procedure of PAX6 identifies 80% of mutations in aniridia. 24
11479730 2001
31
Renal failure in the Denys-Drash and Wilms' tumor-aniridia syndromes. 24
10945603 2000
32
Frasier syndrome, part of the Denys Drash continuum or simply a WT1 gene associated disorder of intersex and nephropathy? 24
10762296 2000
33
Wilms tumor in a child with trisomy 13. 24
10779034 2000
34
Constitutional WT1 mutations in Wilms' tumor patients. 24
9817285 1998
35
Wilms tumor genetics. 24
9781905 1998
36
Nephrogenic rests and the pathogenesis of Wilms tumor: developmental and clinical considerations. 24
9781906 1998
37
Children at increased risk for Wilms tumor: monitoring issues. 24
9544882 1998
38
Donor splice-site mutations in WT1 are responsible for Frasier syndrome. 24
9398852 1997
39
Non-11p constitutional chromosome abnormalities in Wilms' tumor patients. 24
7700182 1995
40
Hereditary hyperparathyroidism-jaw tumor syndrome: the endocrine tumor gene HRPT2 maps to chromosome 1q21-q31. 24
7717405 1995
41
Parental origin of WT1 mutations and mental retardation in WAGR syndrome. 24
7987386 1994
42
The Denys-Drash syndrome. 24
8071974 1994
43
Familial primary hyperparathyroidism complicated with Wilms' tumor. 24
7912571 1994
44
Precursor lesions of Wilms tumor: clinical and biological implications. 24
8383276 1993
45
Familial predisposition to Wilms' tumour does not map to the short arm of chromosome 11. 24
2848199 1988
46
Lack of linkage of familial Wilms' tumour to chromosomal band 11p13. 24
2848200 1988
47
Heritable fraction of unilateral Wilms tumor. 24
2827098 1988
48
Pseudohermaphroditism, glomerulopathy, and Wilms tumor (Drash syndrome): frequency in end-stage renal failure. 24
2984395 1985
49
HMGA2 gene polymorphisms and Wilms tumor susceptibility in Chinese children: a four-center case-control study. 61
31746066 2019
50
TRIM28 haploinsufficiency predisposes to Wilms tumor. 61
30694527 2019

Variations for Wilms Tumor Predisposition

Expression for Wilms Tumor Predisposition

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

Pathways for Wilms Tumor Predisposition

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

# Super pathways Score Top Affiliating Genes
1 11.49 TP53 CDKN1C CDC73 BRCA2 BLM
2 11.48 TP53 NF1 IGF2
3 11.44 TP53 NF1 BRCA2 BLM
4
Show member pathways
11.25 TP53 BRCA2 BLM

GO Terms for Wilms Tumor Predisposition

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

# Name GO ID Score Top Affiliating Genes
1 lateral element GO:0000800 8.62 BRCA2 BLM

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 cell cycle GO:0007049 9.95 TP53 DIS3L2 CDKN1C CDC73 BRCA2
2 positive regulation of transcription, DNA-templated GO:0045893 9.85 WT1 TP53 NSD1 CDKN1C BRCA2 BLM
3 negative regulation of transcription by RNA polymerase II GO:0000122 9.8 WT1 TP53 NSD1 IGF2 DICER1 CDKN1C
4 kidney development GO:0001822 9.73 WT1 GPC3 CDKN1C
5 negative regulation of epithelial cell proliferation GO:0050680 9.65 GPC3 CDKN1C CDC73
6 regulation of gene expression by genetic imprinting GO:0006349 9.54 KCNQ1 IGF2
7 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.52 TP53 BRCA2
8 replication fork protection GO:0048478 9.51 BRCA2 BLM
9 negative regulation of fibroblast proliferation GO:0048147 9.5 TP53 NF1 CDC73
10 DNA strand renaturation GO:0000733 9.49 TP53 BLM
11 negative regulation of neuroblast proliferation GO:0007406 9.46 TP53 NF1
12 regulation of protein localization to membrane GO:1905475 9.43 GPC4 GPC3
13 embryonic placenta morphogenesis GO:0060669 9.4 IGF2 CDKN1C
14 adrenal gland development GO:0030325 9.33 WT1 NF1 CDKN1C
15 response to X-ray GO:0010165 9.13 TP53 BRCA2 BLM
16 negative regulation of cell proliferation GO:0008285 9.1 WT1 TP53 NF1 GPC3 DIS3L2 CDC73

Sources for Wilms Tumor Predisposition

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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