FWT2
MCID: FML094
MIFTS: 25

Familial Wilms Tumor 2 (FWT2)

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

Aliases & Classifications for Familial Wilms Tumor 2

MalaCards integrated aliases for Familial Wilms Tumor 2:

Name: Familial Wilms Tumor 2 20 6 71
Fwt2 20

Classifications:



External Ids:

UMLS 71 C1853800

Summaries for Familial Wilms Tumor 2

MalaCards based summary : Familial Wilms Tumor 2, also known as fwt2, is related to ovarian gonadoblastoma and liver leiomyosarcoma. An important gene associated with Familial Wilms Tumor 2 is GPC3 (Glypican 3).

Related Diseases for Familial Wilms Tumor 2

Graphical network of the top 20 diseases related to Familial Wilms Tumor 2:



Diseases related to Familial Wilms Tumor 2

Symptoms & Phenotypes for Familial Wilms Tumor 2

Drugs & Therapeutics for Familial Wilms Tumor 2

Search Clinical Trials , NIH Clinical Center for Familial Wilms Tumor 2

Genetic Tests for Familial Wilms Tumor 2

Anatomical Context for Familial Wilms Tumor 2

Publications for Familial Wilms Tumor 2

Articles related to Familial Wilms Tumor 2:

(show all 22)
# Title Authors PMID Year
1
Vertical transmission of a mutation in exon 1 of the WT1 gene: lessons for genetic counseling. 6
18688870 2008
2
Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2. 6
16825431 2007
3
Biallelic BRCA2 mutations are associated with multiple malignancies in childhood including familial Wilms tumour. 6
15689453 2005
4
Association of biallelic BRCA2/FANCD1 mutations with spontaneous chromosomal instability and solid tumors of childhood. 6
14670928 2004
5
Somatic glypican 3 (GPC3) mutations in Wilms' tumour. 6
12085187 2002
6
Correlation of germ-line mutations and two-hit inactivation of the WT1 gene with Wilms tumors of stromal-predominant histology. 6
9108089 1997
7
A clinical overview of WT1 gene mutations. 6
9090524 1997
8
Familial Wilms' tumor associated with a WT1 zinc finger mutation. 6
8975729 1996
9
DNA binding capacity of the WT1 protein is abolished by Denys-Drash syndrome WT1 point mutations. 6
7795587 1995
10
Evidence that WT1 mutations in Denys-Drash syndrome patients may act in a dominant-negative fashion. 6
8388765 1993
11
WT1 mutations contribute to abnormal genital system development and hereditary Wilms' tumour. 6
1654525 1991
12
Correlations between Histological and Array Comparative Genomic Hybridization Characterizations of Wilms Tumor. 61
30671724 2019
13
Familial extrarenal Wilms tumor. 61
18022431 2007
14
Nephroblastic neoplasms. 61
15848740 2005
15
Familial Wilms tumor. 61
15264270 2004
16
Recent advances in Wilms tumor genetics. 61
11880727 2002
17
Case of interstitial 12q deletion in association with Wilms tumor. 61
11754052 2001
18
Absence of PPP2R1A mutations in Wilms tumor. 61
11360189 2001
19
Familial Wilms' tumor with neural elements: characterization by histology, immunohistochemistry, and genetic analysis. 61
11000334 2000
20
Evidence for susceptibility genes to familial Wilms tumour in addition to WT1, FWT1 and FWT2. 61
10901367 2000
21
Genetics of Wilms' tumor. 61
10073400 1999
22
Linkage of familial Wilms' tumor predisposition to chromosome 19 and a two-locus model for the etiology of familial tumors. 61
9537236 1998

Variations for Familial Wilms Tumor 2

ClinVar genetic disease variations for Familial Wilms Tumor 2:

6 (show top 50) (show all 892)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GPC3 NM_004484.3(GPC3):c.1574-?_*379+?del Deletion Pathogenic 239938
2 GPC3 NC_000023.10:g.(?_132795758)_(132888203_?)del Deletion Pathogenic 417449 X:132795758-132888203
3 GPC3 NM_004484.3(GPC3):c.361C>T (p.His121Tyr) SNV Pathogenic 11690 rs122453119 X:132888180-132888180 X:133754153-133754153
4 GPC3 NM_004484.3(GPC3):c.1705G>A (p.Ala569Thr) SNV Pathogenic 11691 rs122453120 X:132670190-132670190 X:133536162-133536162
5 GPC3 NC_000023.10:g.(?_132838213)_(132888223_?)del Deletion Pathogenic 830784 X:132838213-132888223
6 GPC3 NC_000023.10:g.(?_132670146)_(133119482_?)del Deletion Pathogenic 830889 X:132670146-133119482
7 GPC3 NC_000023.11:g.(?_133753472)_(133754186_?)del Deletion Pathogenic 832201 X:132887499-132888213
8 GPC3 NC_000023.10:g.(?_132670132)_(132888223_?)del Deletion Pathogenic 832421 X:132670132-132888223
9 GPC3 NM_004484.4(GPC3):c.271C>T (p.Gln91Ter) SNV Pathogenic 941300 X:133087143-133087143 X:133953116-133953116
10 GPC3 NM_004484.4(GPC3):c.1269G>A (p.Trp423Ter) SNV Pathogenic 941417 X:132826420-132826420 X:133692392-133692392
11 GPC3 NM_004484.3(GPC3):c.1471G>T (p.Glu491Ter) SNV Pathogenic 565351 rs1569392947 X:132730570-132730570 X:133596542-133596542
12 GPC3 NM_004484.3(GPC3):c.1307del (p.Ala436fs) Deletion Pathogenic 575598 rs1569408743 X:132795864-132795864 X:133661836-133661836
13 GPC3 NC_000023.10:g.(?_132795738)_(133119496_?)del Deletion Pathogenic 583690 X:132795738-133119496
14 GPC3 NM_001164617.2(GPC3):c.629_654delinsCTTGCA (p.Asn210fs) Indel Pathogenic 476661 rs1556297749 X:132887887-132887912 X:133753860-133753885
15 GPC3 NM_004484.4(GPC3):c.80dup (p.Pro28fs) Duplication Pathogenic 656012 rs1602581162 X:133119396-133119397 X:133985369-133985370
16 GPC3 NM_004484.4(GPC3):c.513dup (p.Asp172Ter) Duplication Pathogenic 664988 rs1603240717 X:132888027-132888028 X:133754000-133754001
17 GPC3 NM_004484.4(GPC3):c.460_463dup (p.Tyr155fs) Microsatellite Pathogenic 940806 X:132888077-132888078 X:133754050-133754051
18 GPC3 NM_004484.4(GPC3):c.256C>T (p.Arg86Ter) SNV Pathogenic 935437 X:133087158-133087158 X:133953131-133953131
19 WT1 NM_024426.6(WT1):c.893_909del (p.Asn298fs) Deletion Pathogenic 3484 rs587776573 11:32439179-32439195 11:32417633-32417649
20 WT1 NM_024426.6(WT1):c.1094del (p.Gly365fs) Deletion Pathogenic 3485 rs587776574 11:32421513-32421513 11:32399967-32399967
21 WT1 NM_024426.6(WT1):c.1387C>T (p.Arg463Ter) SNV Pathogenic 3494 rs121907909 11:32413578-32413578 11:32392032-32392032
22 WT1 NM_024426.6(WT1):c.1303C>T (p.Arg435Ter) SNV Pathogenic 3497 rs121907906 11:32414263-32414263 11:32392717-32392717
23 WT1 NM_024426.6(WT1):c.546C>A (p.Tyr182Ter) SNV Pathogenic 3506 rs121907911 11:32456361-32456361 11:32434815-32434815
24 WT1 NM_024426.6(WT1):c.812del (p.Pro271fs) Deletion Pathogenic 406680 rs1060501253 11:32449577-32449577 11:32428031-32428031
25 WT1 NM_024426.6(WT1):c.1387C>T (p.Arg463Ter) SNV Pathogenic 3494 rs121907909 11:32413578-32413578 11:32392032-32392032
26 WT1 NM_024426.6(WT1):c.592del (p.Ala198fs) Deletion Pathogenic 429033 rs1131690795 11:32456315-32456315 11:32434769-32434769
27 WT1 NM_024426.6(WT1):c.880_882del (p.Tyr294del) Deletion Pathogenic 438757 rs1554945033 11:32449507-32449509 11:32427961-32427963
28 WT1 NC_000011.10:g.(?_32396251)_(32417660_?)del Deletion Pathogenic 476672 11:32417797-32439206 11:32396251-32417660
29 WT1 NM_024426.6(WT1):c.682dup (p.Asp228fs) Duplication Pathogenic 476713 rs1554945232 11:32450144-32450145 11:32428598-32428599
30 WT1 NM_024426.6(WT1):c.334del (p.Asp112fs) Deletion Pathogenic 476700 rs1554946600 11:32456573-32456573 11:32435027-32435027
31 GPC3 NM_001164617.2(GPC3):c.1228C>T (p.Arg410Ter) SNV Pathogenic 11694 rs122453121 X:132833930-132833930 X:133699902-133699902
32 WT1 NM_024426.6(WT1):c.1120C>T (p.Arg374Ter) SNV Pathogenic 449416 rs1423753702 11:32417947-32417947 11:32396401-32396401
33 WT1 NM_024426.6(WT1):c.1149del (p.Val384fs) Deletion Pathogenic 543120 rs1554939839 11:32417918-32417918 11:32396372-32396372
34 GPC3 NM_004484.3(GPC3):c.595C>T (p.Arg199Ter) SNV Pathogenic 11689 rs104894855 X:132887946-132887946 X:133753919-133753919
35 WT1 NM_024426.6(WT1):c.653del (p.Arg218fs) Deletion Pathogenic 571628 rs1565000973 11:32456254-32456254 11:32434708-32434708
36 WT1 NM_024426.6(WT1):c.478C>T (p.Gln160Ter) SNV Pathogenic 543125 rs1554946500 11:32456429-32456429 11:32434883-32434883
37 WT1 NM_024426.6(WT1):c.1303C>T (p.Arg435Ter) SNV Pathogenic 3497 rs121907906 11:32414263-32414263 11:32392717-32392717
38 WT1 NM_024426.6(WT1):c.1120C>T (p.Arg374Ter) SNV Pathogenic 449416 rs1423753702 11:32417947-32417947 11:32396401-32396401
39 WT1 NM_024426.6(WT1):c.472G>T (p.Glu158Ter) SNV Pathogenic 584762 rs1565001383 11:32456435-32456435 11:32434889-32434889
40 WT1 NM_024426.6(WT1):c.1303C>T (p.Arg435Ter) SNV Pathogenic 3497 rs121907906 11:32414263-32414263 11:32392717-32392717
41 WT1 NM_024426.6(WT1):c.882C>A (p.Tyr294Ter) SNV Pathogenic 645008 rs1554945031 11:32449507-32449507 11:32427961-32427961
42 LOC106707172 NC_000011.10:g.(?_32389048)_(32435355_?)del Deletion Pathogenic 665054 11:32410594-32456901 11:32389048-32435355
43 WT1 NC_000011.10:g.(?_32434690)_(32435345_?)del Deletion Pathogenic 833107 11:32456236-32456891
44 WT1 NC_000011.10:g.(?_32396247)_(32400054_?)del Deletion Pathogenic 833202 11:32417793-32421600
45 LOC106707172 NC_000011.10:g.(?_32389058)_(32435345_?)del Deletion Pathogenic 543163 11:32410604-32456891 11:32389058-32435345
46 WT1 NM_024426.6(WT1):c.897del (p.Leu299fs) Deletion Pathogenic 958253 11:32439191-32439191 11:32417645-32417645
47 BRCA2 NM_000059.4(BRCA2):c.658_659del Deletion Pathogenic 9342 rs80359604 13:32903605-32903606 13:32329468-32329469
48 BRCA2 NM_000059.4(BRCA2):c.5645C>G (p.Ser1882Ter) SNV Pathogenic 9346 rs80358785 13:32914137-32914137 13:32340000-32340000
49 WT1 NM_024426.6(WT1):c.1399C>T (p.Arg467Trp) SNV Pathogenic 3487 rs121907900 11:32413566-32413566 11:32392020-32392020
50 BRCA2 NM_000059.4(BRCA2):c.5682C>G (p.Tyr1894Ter) SNV Pathogenic 37989 rs41293497 13:32914174-32914174 13:32340037-32340037

Expression for Familial Wilms Tumor 2

Search GEO for disease gene expression data for Familial Wilms Tumor 2.

Pathways for Familial Wilms Tumor 2

GO Terms for Familial Wilms Tumor 2

Biological processes related to Familial Wilms Tumor 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 kidney development GO:0001822 8.96 WT1 GPC3
2 branching involved in ureteric bud morphogenesis GO:0001658 8.62 WT1 GPC3

Sources for Familial Wilms Tumor 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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