WT5
MCID: WLM007
MIFTS: 63

Wilms Tumor Susceptibility-5 (WT5) malady

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

Aliases & Classifications for Wilms Tumor Susceptibility-5

Aliases & Descriptions for Wilms Tumor Susceptibility-5:

Name: Wilms Tumor Susceptibility-5 54 13
Wilms Tumor 54 38 24 56 13 52 41 42 14
Nephroblastoma 12 50 56 29 14 69
Bilateral Wilms Tumor 50 69
Wilms Tumor, Somatic 54 24
Renal Wilms' Tumor 12 14
Wilms Tumor 1 66 29
Wilms' Tumor 12 50
Wt1 50 66
Hereditary Susceptibility to Wilms Tumor 5 66
Nonanaplastic Renal Wilm's Tumor 12
Nonanaplastic Kidney Wilms Tumor 69
Nonanaplastic Renal Wilms Tumor 12
Childhood Renal Wilms' Cancer 12
Childhood Kidney Wilms Tumor 69
Childhood Renal Wilms Tumor 12
Adult Renal Wilms' Tumor 12
Adult Kidney Wilms Tumor 69
Renal Embryonic Tumor 56
Adult Nephroblastoma 12
Wilms Tumor, Type 1 54
Renal Wilms Tumor 12
Wilms Tumor-1 13
Wt5 66

Characteristics:

Orphanet epidemiological data:

56
nephroblastoma
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/1000000 (Europe),1-9/100000 (Europe),1-9/1000000 (United Kingdom),1-5/10000 (Europe); Age of onset: Childhood; Age of death: any age;

HPO:

32
wilms tumor susceptibility-5:
Inheritance autosomal dominant inheritance somatic mutation


Classifications:

Orphanet: 56  
Rare renal diseases


External Ids:

Disease Ontology 12 DOID:2154 DOID:5176
MeSH 42 D009396
Orphanet 56 ORPHA654
MESH via Orphanet 43 D009396
UMLS via Orphanet 70 C0027708
ICD10 via Orphanet 34 C64

Summaries for Wilms Tumor Susceptibility-5

MedlinePlus : 41 wilms tumor is a rare type of kidney cancer. it causes a tumor on one or both kidneys. it usually affects children, but can happen in adults. having certain genetic conditions or birth defects can increase the risk of getting it. children that are at risk should be screened for wilms tumor every three months until they turn eight. symptoms include a lump in the abdomen, blood in the urine, and a fever for no reason. tests that examine the kidney and blood are used to find the tumor. doctors usually diagnose and remove the tumor in surgery. other treatments include chemotherapy and radiation and biologic therapies. biologic therapy boosts your body's own ability to fight cancer. nih: national cancer institute

MalaCards based summary : Wilms Tumor Susceptibility-5, also known as wilms tumor, is related to frasier syndrome and gastric cancer, and has symptoms including fever, abdominal pain and hypertension. An important gene associated with Wilms Tumor Susceptibility-5 is WT1 (Wilms Tumor 1), and among its related pathways/superpathways are Adhesion and Primary Focal Segmental Glomerulosclerosis FSGS. The drugs Itraconazole and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include kidney, testes and lung, and related phenotypes are cellular and cardiovascular system

Disease Ontology : 12 A kidney cancer that affects the kidneys and typically located in children.

UniProtKB/Swiss-Prot : 66 Hereditary susceptibility to Wilms tumor 5: Pediatric malignancy of kidney and one of the most common solid cancers in childhood. Wilms tumor 1: Embryonal malignancy of the kidney that affects approximately 1 in 10'000 infants and young children. It occurs both in sporadic and hereditary forms.

Description from OMIM: 601583 194070

Related Diseases for Wilms Tumor Susceptibility-5

Diseases related to Wilms Tumor Susceptibility-5 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 239)
id Related Disease Score Top Affiliating Genes
1 frasier syndrome 32.7 NPHS1 NR5A1 PAX2 WT1
2 gastric cancer 29.8 CDKN1C NPHS1 PAX2 SYNPO WT1
3 wilms tumor 6 12.2
4 cervical wilms' tumor 12.1
5 perlman syndrome 12.0
6 familial wilms tumor 12.0
7 denys-drash syndrome 12.0
8 wagr syndrome 12.0
9 wilms tumor and radial bilateral aplasia 12.0
10 wilms tumor predisposition 12.0
11 hereditary wilms' tumor 11.9
12 epithelial predominant wilms' tumor 11.9
13 wilms tumor 2 11.9
14 stromal predominant kidney wilms' tumor 11.9
15 mixed cell type kidney wilms' tumor 11.9
16 blastema predominant kidney wilms' tumor 11.9
17 familial wilms tumor 2 11.9
18 metachronous kidney wilms' tumor 11.9
19 wilms tumor-aniridia-genital anomalies-retardation syndrome 11.8
20 global developmental delay-lung cysts-overgrowth-wilms tumor syndrome 11.8
21 mulibrey nanism 11.3
22 aniridia 11.3
23 beckwith-wiedemann syndrome 11.2
24 embryoma 11.2
25 childhood multilocular cystic kidney neoplasm 11.0
26 mosaic variegated aneuploidy syndrome 1 11.0
27 li-fraumeni syndrome 11.0
28 hemihyperplasia, isolated 10.8
29 rhabdoid tumors, somatic 10.8
30 hyperparathyroidism-jaw tumor syndrome 10.8
31 mosaic variegated aneuploidy syndrome 2 10.8
32 simpson-golabi-behmel syndrome 10.8
33 ovarian wilms' cancer 10.8
34 wagro syndrome 10.8
35 renal cell carcinoma, papillary 10.5
36 leukemia 10.5
37 nebulin-related early-onset distal myopathy 10.4 CDKN1C IGF2
38 ehlers-danlos/osteogenesis imperfecta syndrome 10.4 H19 IGF2
39 severe combined immunodeficiency, x-linked 10.4 IGF2 POU6F2 WT1
40 toxin-mediated infectious botulism 10.4 H19 IGF2
41 dental abscess 10.4 CDKN1C H19 IGF2
42 disease_ontology 10.4 H19 PAX6 WT1
43 gastrointestinal neuroendocrine tumor 10.4 IGF2 PAX2 PAX8
44 skin granular cell tumor 10.4 IGF2 PAX6 WT1
45 hemorrhagic fever 10.4 CDKN1C H19 IGF2 WT1
46 hall-riggs mental retardation syndrome 10.4 H19 IGF2
47 epibulbar lipodermoid-preauricular appendage-polythelia syndrome 10.4 H19 IGF2
48 kimura disease 10.4 PAX2 PAX8
49 meninges hemangiopericytoma 10.4 H19 PAX2 PAX8 WT1
50 malignant hyperthermia susceptibility 1 10.4 NPHS1 SYNPO WT1

Graphical network of the top 20 diseases related to Wilms Tumor Susceptibility-5:



Diseases related to Wilms Tumor Susceptibility-5

Symptoms & Phenotypes for Wilms Tumor Susceptibility-5

Symptoms by clinical synopsis from OMIM:

194070 601583

Clinical features from OMIM:

601583 194070

Human phenotypes related to Wilms Tumor Susceptibility-5:

56 32 (show all 11)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fever 56 32 Occasional (29-5%) HP:0001945
2 abdominal pain 56 32 Very frequent (99-80%) HP:0002027
3 hypertension 56 32 Occasional (29-5%) HP:0000822
4 weight loss 56 32 Occasional (29-5%) HP:0001824
5 hematuria 56 32 Occasional (29-5%) HP:0000790
6 neoplasm of the lung 56 32 Occasional (29-5%) HP:0100526
7 lymphadenopathy 56 32 Occasional (29-5%) HP:0002716
8 nephroblastoma 56 32 Very frequent (99-80%) HP:0002667
9 aniridia 56 32 Occasional (29-5%) HP:0000526
10 neoplasm of the liver 56 32 Occasional (29-5%) HP:0002896
11 neoplasm 56 Very frequent (99-80%)

UMLS symptoms related to Wilms Tumor Susceptibility-5:


abdominal pain

MGI Mouse Phenotypes related to Wilms Tumor Susceptibility-5:

44 (show all 13)
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.32 BRCA2 CTNNB1 CYR61 EGR1 GPC3 IGF2
2 cardiovascular system MP:0005385 10.3 CTNNB1 CYR61 EGR1 GPC3 IGF2 NOV
3 embryo MP:0005380 10.27 PAX2 PAX6 PAX8 REST WT1 BRCA2
4 mortality/aging MP:0010768 10.24 PAX8 PRDM2 REST WT1 BRCA2 CTNNB1
5 homeostasis/metabolism MP:0005376 10.21 BRCA2 CTNNB1 CYR61 EGR1 GPC3 IGF2
6 growth/size/body region MP:0005378 10.2 BRCA2 CTNNB1 EGR1 GPC3 IGF2 NOV
7 endocrine/exocrine gland MP:0005379 10.13 BRCA2 CTNNB1 EGR1 IGF2 NR5A1 PAX2
8 nervous system MP:0003631 10 NPHS1 NR5A1 PAX2 PAX6 PAX8 REST
9 limbs/digits/tail MP:0005371 9.95 BRCA2 CTNNB1 EGR1 GPC3 IGF2 NOV
10 renal/urinary system MP:0005367 9.85 CTNNB1 GPC3 IGF2 NOV NPHS1 PAX2
11 neoplasm MP:0002006 9.8 BRCA2 CTNNB1 EGR1 PAX6 PRDM2 WT1
12 reproductive system MP:0005389 9.7 CTNNB1 EGR1 GPC3 IGF2 NR5A1 PAX2
13 vision/eye MP:0005391 9.23 CTNNB1 EGR1 IGF2 NOV PAX2 PAX6

Drugs & Therapeutics for Wilms Tumor Susceptibility-5

Drugs for Wilms Tumor Susceptibility-5 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 271)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Itraconazole Approved, Investigational Phase 4,Phase 3 84625-61-6 55283
2
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 22916-47-8 4189
3 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
4 Cytochrome P-450 CYP3A Inhibitors Phase 4,Phase 3,Phase 2
5 Cytochrome P-450 Enzyme Inhibitors Phase 4,Phase 3,Phase 2
6 Antifungal Agents Phase 4,Phase 3,Phase 2,Phase 1
7 Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1
8 Hormones Phase 4,Phase 3,Phase 2,Phase 1
9 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1
10 Hydroxyitraconazole Phase 4,Phase 3
11 Steroid Synthesis Inhibitors Phase 4,Phase 3,Phase 2
12
Dactinomycin Approved Phase 3,Phase 2 50-76-0 2019 457193
13
Vincristine Approved, Investigational Phase 3,Phase 2,Phase 1 2068-78-2, 57-22-7 5978
14
Carboplatin Approved Phase 3,Phase 2,Phase 1 41575-94-4 10339178 498142 38904
15
Cyclophosphamide Approved, Investigational Phase 3,Phase 2,Phase 1,Early Phase 1 50-18-0, 6055-19-2 2907
16
Doxorubicin Approved, Investigational Phase 3,Phase 2,Phase 1 23214-92-8 31703
17
Etoposide Approved Phase 3,Phase 2,Phase 1 33419-42-0 36462
18
Azacitidine Approved, Investigational Phase 2, Phase 3,Phase 1 320-67-2 9444
19
Decitabine Approved, Investigational Phase 2, Phase 3 2353-33-5 451668
20
Cytarabine Approved, Investigational Phase 2, Phase 3, Phase 1 147-94-4 6253
21
Idarubicin Approved Phase 2, Phase 3 58957-92-9 42890
22
Daunorubicin Approved Phase 3,Phase 1,Phase 2 20830-81-3 30323
23
Lenograstim Approved Phase 3,Phase 2,Phase 1 135968-09-1
24
Sulfamethoxazole Approved Phase 3 723-46-6 5329
25
Trimethoprim Approved, Vet_approved Phase 3 738-70-5 5578
26
Fludarabine Approved Phase 2, Phase 3, Phase 1 21679-14-1, 75607-67-9 30751
27
Cyclosporine Approved, Investigational, Vet_approved Phase 3 79217-60-0, 59865-13-3 5284373 6435893
28
Morphine Approved, Investigational Phase 3 57-27-2 5288826
29
Mycophenolate mofetil Approved, Investigational Phase 3 128794-94-5 5281078
30
Mycophenolic acid Approved Phase 3 24280-93-1 446541
31
Amphotericin B Approved, Investigational Phase 3 1397-89-3 14956 5280965
32
Caspofungin Approved Phase 3 179463-17-3, 162808-62-0 468682 2826718
33
Palivizumab Approved, Investigational Phase 3 188039-54-5
34
Ribavirin Approved Phase 3 36791-04-5 37542
35
Fluconazole Approved Phase 3 86386-73-4 3365
36
Captopril Approved Phase 3 62571-86-2 44093
37
Histamine Approved, Investigational Phase 3,Phase 1,Phase 2 75614-87-8, 51-45-6 774
38
Cyproheptadine Approved Phase 3 129-03-3 2913
39
Doxil Approved June 1999 Phase 3,Phase 2,Phase 1 31703
40 Anti-Bacterial Agents Phase 3,Phase 2,Phase 1,Early Phase 1
41 Antibiotics, Antitubercular Phase 3,Phase 2,Phase 1
42 Antimitotic Agents Phase 3,Phase 2,Phase 1
43 Antineoplastic Agents, Phytogenic Phase 3,Phase 2,Phase 1
44 Nucleic Acid Synthesis Inhibitors Phase 3,Phase 2
45 Alkylating Agents Phase 3,Phase 2,Phase 1,Early Phase 1
46 Antineoplastic Agents, Alkylating Phase 3,Phase 2,Phase 1,Early Phase 1
47 Antirheumatic Agents Phase 3,Phase 2,Phase 1,Early Phase 1
48 Etoposide phosphate Phase 3,Phase 2,Phase 1
49 Immunosuppressive Agents Phase 3,Phase 2,Phase 1,Early Phase 1
50 Topoisomerase Inhibitors Phase 3,Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 223)
id Name Status NCT ID Phase
1 Efficacy of Prophylactic Itraconazole in High-Dose Chemotherapy and Autologous Hematopoietic Stem Cell Transplantation Completed NCT00336531 Phase 4
2 Collaborative Wilms Tumour Africa Project Recruiting NCT01991652 Phase 4
3 Chemotherapy Plus Surgery in Treating Children at Risk of or With Stage I Wilms' Tumor Unknown status NCT00003804 Phase 3
4 Chemotherapy Before and After Surgery in Treating Children With Wilm's Tumor Unknown status NCT00047138 Phase 3
5 Decitabine Augments for Post Allogeneic Stem Cell Transplantation in Patients With Acute Myeloid Leukemia and Myelodysplastic Syndrome Unknown status NCT01809392 Phase 2, Phase 3
6 Vincristine, Dactinomycin, and Doxorubicin With or Without Radiation Therapy or Observation Only in Treating Younger Patients Who Are Undergoing Surgery for Newly Diagnosed Stage I, Stage II, or Stage III Wilms' Tumor Completed NCT00352534 Phase 3
7 WT1 for the Detection of Minimal Residual Disease Completed NCT00179829 Phase 2, Phase 3
8 Chemotherapy With or Without Surgery, Radiation Therapy, or Stem Cell Transplantation in Treating Young Patients With Kidney Tumors Completed NCT00002610 Phase 3
9 Combination Chemotherapy Alone or With Radiation Therapy in Treating Children With Kidney Cancer Completed NCT00002611 Phase 3
10 Glutamic Acid in Reducing Nerve Damage Caused by Vincristine in Young Patients With Cancer Completed NCT00369564 Phase 3
11 Induction, Consolidation and Intensification Therapy for Patients Younger Than 66 Years With Previously Untreated CD33 Positive Acute Myeloid Leukemia (AML) Completed NCT00909168 Phase 2, Phase 3
12 Efficacy of Gemtuzumab Ozogamycin for Patients Presenting an Acute Myeloid Leukemia (AML) With Intermediate Risk Completed NCT00860639 Phase 3
13 Supersaturated Calcium Phosphate Rinse in Preventing Oral Mucositis in Young Patients Undergoing Autologous or Donor Stem Cell Transplant Completed NCT01305200 Phase 3
14 HLA-mismatched MST vs HLA-matched NST for AML in Intermediate-risk Completed NCT02461121 Phase 3
15 Liposomal Amphotericin B in Treating Granulocytopenia and Persistent Unexplained Fever in Cancer Patients Completed NCT00003938 Phase 3
16 Caspofungin Acetate Compared With Amphotericin B Liposomal in Treating Patients With Persistent Fever and Neutropenia Following Cancer Treatment Completed NCT00008359 Phase 3
17 Ribavirin With or Without Monoclonal Antibody Therapy in Treating Patients Who Develop RSV Pneumonia Following Peripheral Stem Cell Transplantation Completed NCT00014391 Phase 3
18 Itraconazole Compared With Fluconazole to Prevent Infections in Patients Undergoing Peripheral Stem Cell or Bone Marrow Transplantation Completed NCT00003883 Phase 3
19 Music Therapy or Book Discussion in Improving Quality of Life in Young Patients Undergoing Stem Cell Transplant Completed NCT00305851 Phase 3
20 Valacyclovir in Preventing Cytomegalovirus Infection in Patients Who Are Undergoing Donor Stem Cell Transplantation Completed NCT00045292 Phase 3
21 Captopril in Treating Patients Undergoing Bone Marrow or Stem Cell Transplantation Completed NCT00004230 Phase 3
22 A Randomized Study of Gemtuzumab Ozogamicin (GO) With Daunorubicine and Cytarabine in Untreated Acute Myeloid Leukemia (AML) Aged of 50-70 Years Old Completed NCT00927498 Phase 3
23 Combination Chemotherapy With or Without Radiation Therapy in Treating Young Patients With Newly Diagnosed Stage III or Stage IV Wilms' Tumor Active, not recruiting NCT00379340 Phase 3
24 Combination Chemotherapy and Surgery in Treating Young Patients With Wilms Tumor Active, not recruiting NCT00945009 Phase 3
25 Study of Fixed vs. Flexible Filgrastim to Accelerate Bone Marrow Recovery After Chemotherapy in Children With Cancer Active, not recruiting NCT01987596 Phase 3
26 Cyproheptadine in Preventing Weight Loss in Children Receiving Chemotherapy for Cancer Terminated NCT01132547 Phase 3
27 WT1 Peptid Vaccination in Carcinomas Unknown status NCT00153608 Phase 2
28 Safety and Immunogenicity of Recombinant WT1 Antigen-Specific Cancer Immunotherapeutic Combined With Infusion of Treg Depleted T Cells for Adult WT1 Acute Myeloid Leukemia Unknown status NCT01513109 Phase 1, Phase 2
29 Chemotherapy Followed by Surgery and Radiation Therapy With or Without Stem Cell Transplant in Treating Patients With Relapsed or Refractory Wilms' Tumor or Clear Cell Sarcoma of the Kidney Unknown status NCT00025103 Phase 2
30 WT1 Peptide Vaccination in Acute Myeloid Leukemia (AML) Unknown status NCT00153582 Phase 2
31 Efficacy of Dendritic Cell Therapy for Myeloid Leukemia and Myeloma Unknown status NCT00965224 Phase 2
32 Dendritic Cell Vaccination for Patients With Solid Tumors Unknown status NCT01291420 Phase 1, Phase 2
33 Tandem Peripheral Blood Stem Cell (PBSC) Rescue for High Risk Solid Tumors Unknown status NCT00179816 Phase 1, Phase 2
34 External-Beam Radiation Therapy With or Without Indinavir and Ritonavir in Treating Patients With Brain Metastases Unknown status NCT00637637 Phase 2
35 Light-Emitting Diode Therapy in Preventing Mucositis in Children Receiving Chemotherapy With or Without Radiation Therapy Before Bone Marrow Transplantation Unknown status NCT00036712 Phase 2
36 Wilm's Tumor 1 (WT1) Peptide Vaccine for High Risk Hematologic Malignancy Completed NCT00433745 Phase 2
37 A Phase II Study of Topotecan in Children With Recurrent Wilms Tumor Completed NCT00187031 Phase 2
38 Wilm's Tumor 1 Protein Vaccine to Treat Cancers of the Blood Completed NCT00923910 Phase 1, Phase 2
39 Sorafenib Tosylate in Treating Younger Patients With Relapsed or Refractory Rhabdomyosarcoma, Wilms Tumor, Liver Cancer, or Thyroid Cancer Completed NCT01502410 Phase 2
40 A Phase II Trial of All-Trans-Retinoic Acid in Combination With Interferon-Alpha 2a in Children With Recurrent Neuroblastoma or Wilms' Tumor Completed NCT00001509 Phase 2
41 Peptide Vaccinations to Treat Patients With Low-Risk Myeloid Cancers Completed NCT00488592 Phase 2
42 Phase I/II Study of Immune Therapy After Allograft in Patients With Myeloid Hemopathy Completed NCT01819558 Phase 1, Phase 2
43 Combination Chemotherapy and Radiation Therapy in Treating Patients With Peripheral Neuroectodermal Tumors, Ewing's Sarcoma, Wilms' Tumor, or Bone Cancer Completed NCT00002466 Phase 2
44 Biological Therapy in Treating Patients With Advanced Myelodysplastic Syndrome, Acute or Chronic Myeloid Leukemia, or Acute Lymphoblastic Leukemia Who Are Undergoing Stem Cell Transplantation Completed NCT00052520 Phase 1, Phase 2
45 Combination Chemotherapy, Radiation Therapy, and/or Surgery in Treating Patients With High-Risk Kidney Tumors Completed NCT00335556 Phase 2
46 Safety and Efficacy Study of T-Guard to Treat Steroid-resistant Acute GVHD Completed NCT02027805 Phase 1, Phase 2
47 Pharmacokinetic Study of Doxorubicin in Children With Cancer Completed NCT01095926 Phase 2
48 Liposomal Vincristine for Pediatric and Adolescent Patients With Relapsed Malignancies Completed NCT00038207 Phase 2
49 Study of High-Dose Chemotherapy With Bone Marrow or Stem Cell Transplant for Rare Poor-Prognosis Cancers Completed NCT00141765 Phase 2
50 To Evaluate the Safety, Activity and Pharmacokinetics of Marqibo in Children and Adolescents With Refractory Cancer Completed NCT01222780 Phase 1, Phase 2

Search NIH Clinical Center for Wilms Tumor Susceptibility-5

Cochrane evidence based reviews: wilms tumor

Genetic Tests for Wilms Tumor Susceptibility-5

Genetic tests related to Wilms Tumor Susceptibility-5:

id Genetic test Affiliating Genes
1 Wilms Tumor 1 29
2 Nephroblastoma 29
3 Wilms Tumor 24 WT1
4 Wilms Tumor, Somatic 24 GPC3

Anatomical Context for Wilms Tumor Susceptibility-5

MalaCards organs/tissues related to Wilms Tumor Susceptibility-5:

39
Kidney, Testes, Lung, Liver

The Foundational Model of Anatomy Ontology organs/tissues related to Wilms Tumor Susceptibility-5:

18
Children

Publications for Wilms Tumor Susceptibility-5

Variations for Wilms Tumor Susceptibility-5

UniProtKB/Swiss-Prot genetic disease variations for Wilms Tumor Susceptibility-5:

66
id Symbol AA change Variation ID SNP ID
1 POU6F2 p.Gln192His VAR_022419
2 WT1 p.Pro181Ser VAR_007739 rs2234584
3 WT1 p.Ser223Asn VAR_007740
4 WT1 p.Gly253Ala VAR_007741
5 WT1 p.Arg366Cys VAR_007745
6 WT1 p.Arg366His VAR_007746
7 WT1 p.His373Gln VAR_007747
8 WT1 p.Arg394Trp VAR_007750
9 WT1 p.Cys355Gly VAR_043799
10 WT1 p.Arg394Leu VAR_043807

ClinVar genetic disease variations for Wilms Tumor Susceptibility-5:

6 (show all 15)
id Gene Variation Type Significance SNP ID Assembly Location
1 POU6F2 NM_007252.3(POU6F2): c.573G> T (p.Gln191His) single nucleotide variant risk factor rs121918261 GRCh37 Chromosome 7, 39379302: 39379302
2 POU6F2 POU6F2, C-G, EXON 1C, 5-PRIME UTR single nucleotide variant Pathogenic
3 WT1 NM_001198551.1(WT1): c.242_258del17 (p.Asn81Ilefs) deletion Pathogenic rs587776573 GRCh38 Chromosome 11, 32417633: 32417649
4 WT1 NM_001198551.1(WT1): c.443delG (p.Gly148Valfs) deletion Pathogenic rs587776574 GRCh38 Chromosome 11, 32399967: 32399967
5 WT1 NM_024426.4(WT1): c.1384C> T (p.Arg462Trp) single nucleotide variant Pathogenic rs121907900 GRCh37 Chromosome 11, 32413566: 32413566
6 WT1 NM_024426.4(WT1): c.1372C> T (p.Arg458Ter) single nucleotide variant Pathogenic rs121907909 GRCh37 Chromosome 11, 32413578: 32413578
7 WT1 NM_024426.4(WT1): c.1288C> T (p.Arg430Ter) single nucleotide variant Pathogenic rs121907906 GRCh37 Chromosome 11, 32414263: 32414263
8 WT1 NM_024426.4(WT1): c.531C> A (p.Tyr177Ter) single nucleotide variant Pathogenic rs121907911 GRCh37 Chromosome 11, 32456361: 32456361
9 BRCA2 NM_000059.3(BRCA2): c.658_659delGT (p.Val220Ilefs) deletion Pathogenic rs80359604 GRCh37 Chromosome 13, 32903606: 32903607
10 BRCA2 NM_000059.3(BRCA2): c.5645C> G (p.Ser1882Ter) single nucleotide variant Pathogenic rs80358785 GRCh37 Chromosome 13, 32914137: 32914137
11 GPC3 NM_004484.3(GPC3): c.361C> T (p.His121Tyr) single nucleotide variant Pathogenic rs122453119 GRCh37 Chromosome X, 132888180: 132888180
12 GPC3 NM_004484.3(GPC3): c.1705G> A (p.Ala569Thr) single nucleotide variant Pathogenic rs122453120 GRCh37 Chromosome X, 132670190: 132670190
13 GPC3 NM_004484.3(GPC3): c.1574-?_*379+?del deletion Pathogenic
14 WT1 NM_001198551.1(WT1): c.161delC (p.Pro54Argfs) deletion Pathogenic rs1060501253 GRCh38 Chromosome 11, 32428031: 32428031
15 GPC3 NC_000023.10: g.(?_132795758)_(132888203_?)del deletion Pathogenic GRCh37 Chromosome X, 132795758: 132888203

Copy number variations for Wilms Tumor Susceptibility-5 from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 24429 1 180300000 185800000 Microamplification CACNA1E Nephroblastoma

Expression for Wilms Tumor Susceptibility-5

Search GEO for disease gene expression data for Wilms Tumor Susceptibility-5.

Pathways for Wilms Tumor Susceptibility-5

Pathways related to Wilms Tumor Susceptibility-5 according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 11.37 CTNNB1 CYR61 NOV
2 10.97 CDKN1C CTNNB1 NPHS1 PAX2 SYNPO WT1
3 10.16 PAX2 PAX8

GO Terms for Wilms Tumor Susceptibility-5

Biological processes related to Wilms Tumor Susceptibility-5 according to GeneCards Suite gene sharing:

(show all 45)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription from RNA polymerase II promoter GO:0045944 9.96 CTNNB1 CYR61 EGR1 NR5A1 PAX2 PAX6
2 negative regulation of cell proliferation GO:0008285 9.95 CTNNB1 DIS3L2 GPC3 PAX6 REST WT1
3 anatomical structure morphogenesis GO:0009653 9.86 CYR61 GPC3 PAX8
4 negative regulation of epithelial cell proliferation GO:0050680 9.81 CDKN1C GPC3 PAX6
5 transcription from RNA polymerase II promoter GO:0006366 9.81 EGR1 NR5A1 PAX2 PAX6 PAX8 POU6F2
6 kidney development GO:0001822 9.77 CDKN1C CTNNB1 GPC3 PAX8 WT1
7 camera-type eye development GO:0043010 9.71 CDKN1C PAX2 PAX6 WT1
8 negative regulation of neurogenesis GO:0050768 9.7 PAX6 REST
9 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.69 PAX2 PAX8
10 tissue development GO:0009888 9.69 NR5A1 WT1
11 anterior/posterior axis specification GO:0009948 9.69 CTNNB1 GPC3
12 urogenital system development GO:0001655 9.68 PAX2 PAX8
13 mesonephros development GO:0001823 9.67 PAX2 PAX8
14 animal organ development GO:0048513 9.67 CTNNB1 PAX2
15 glomerular basement membrane development GO:0032836 9.67 NPHS1 WT1
16 mesenchymal to epithelial transition GO:0060231 9.66 PAX2 WT1
17 sex determination GO:0007530 9.66 NR5A1 WT1
18 positive regulation of male gonad development GO:2000020 9.65 NR5A1 WT1
19 dorsal/ventral axis specification GO:0009950 9.65 CTNNB1 PAX6
20 cellular response to gonadotropin stimulus GO:0071371 9.65 PAX8 WT1
21 metanephric mesenchyme development GO:0072075 9.64 PAX2 WT1
22 mesenchymal to epithelial transition involved in metanephros morphogenesis GO:0003337 9.63 PAX2 PAX8
23 regulation of metanephric nephron tubule epithelial cell differentiation GO:0072307 9.63 PAX2 PAX8
24 adrenal gland development GO:0030325 9.63 CDKN1C NR5A1 WT1
25 pronephros development GO:0048793 9.62 PAX2 PAX8
26 positive regulation of epithelial cell differentiation GO:0030858 9.61 CTNNB1 PAX6
27 metanephric S-shaped body morphogenesis GO:0072284 9.61 PAX8 WT1
28 cell fate determination GO:0001709 9.61 CTNNB1 PAX2 PAX6
29 positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis GO:0072108 9.6 PAX2 PAX8
30 metanephric nephron tubule formation GO:0072289 9.59 PAX2 PAX8
31 metanephric distal convoluted tubule development GO:0072221 9.58 PAX2 PAX8
32 negative regulation of mesenchymal cell apoptotic process involved in metanephros development GO:1900212 9.58 PAX2 PAX8
33 negative regulation of female gonad development GO:2000195 9.57 NR5A1 WT1
34 negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis GO:0072305 9.55 PAX2 PAX8
35 negative regulation of apoptotic process involved in metanephric nephron tubule development GO:1900218 9.54 PAX2 PAX8
36 positive regulation of metanephric DCT cell differentiation GO:2000594 9.52 PAX2 PAX8
37 negative regulation of apoptotic process involved in metanephric collecting duct development GO:1900215 9.51 PAX2 PAX8
38 metanephric epithelium development GO:0072207 9.5 PAX2 PAX8 WT1
39 pronephric field specification GO:0039003 9.49 PAX2 PAX8
40 branching involved in ureteric bud morphogenesis GO:0001658 9.35 CTNNB1 GPC3 PAX2 PAX8 WT1
41 positive regulation of transcription, DNA-templated GO:0045893 9.32 BRCA2 CDKN1C CTNNB1 EGR1 NR5A1 PAX2
42 transcription, DNA-templated GO:0006351 10.32 CTNNB1 EGR1 NR5A1 PAX2 PAX6 PAX8
43 regulation of transcription, DNA-templated GO:0006355 10.3 CTNNB1 EGR1 IGF2 NR5A1 PAX2 PAX6
44 regulation of transcription from RNA polymerase II promoter GO:0006357 10.08 CTNNB1 NR5A1 PAX6 REST WT1
45 negative regulation of transcription, DNA-templated GO:0045892 10.07 CDKN1C CTNNB1 PAX2 REST WT1

Molecular functions related to Wilms Tumor Susceptibility-5 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.9 BRCA2 CTNNB1 EGR1 NR5A1 PAX2 PAX6
2 sequence-specific DNA binding GO:0043565 9.83 EGR1 NR5A1 PAX6 PAX8 WT1
3 transcription factor binding GO:0008134 9.76 CTNNB1 PAX2 PAX6 REST
4 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding GO:0001077 9.71 EGR1 PAX6 PAX8 WT1
5 transcription factor activity, sequence-specific DNA binding GO:0003700 9.61 CTNNB1 EGR1 NR5A1 PAX6 PAX8 POU6F2
6 RNA polymerase II core promoter sequence-specific DNA binding GO:0000979 9.54 CTNNB1 PAX6 PAX8
7 double-stranded methylated DNA binding GO:0010385 9.32 EGR1 WT1
8 hemi-methylated DNA-binding GO:0044729 9.26 EGR1 WT1
9 transcription regulatory region DNA binding GO:0044212 9.17 CTNNB1 EGR1 PAX2 PAX6 PAX8 REST

Sources for Wilms Tumor Susceptibility-5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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