WT6
MCID: WLM011
MIFTS: 25

Wilms Tumor 6 (WT6)

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

Aliases & Classifications for Wilms Tumor 6

MalaCards integrated aliases for Wilms Tumor 6:

Name: Wilms Tumor 6 57 72 29 6
Wilms Tumor 6, Susceptibility to 57 72
Wt6 57 72
Susceptibility to Wilms Tumor 6 72
Wilms Tumor, Susceptibility to 72
Nephroblastoma 70

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
incomplete penetrance
age at diagnosis, 6 months to 6 years
estimated 2% of wilms tumor cases

Inheritance:
autosomal dominant


Classifications:



External Ids:

OMIM® 57 616806
OMIM Phenotypic Series 57 PS194070
MeSH 44 D009396
SNOMED-CT via HPO 68 25081006 302849000
UMLS 70 C0027708

Summaries for Wilms Tumor 6

UniProtKB/Swiss-Prot : 72 Wilms tumor 6: A pediatric malignancy of kidney, and the most common childhood abdominal malignancy. It is caused by the uncontrolled multiplication of renal stem, stromal, and epithelial cells.

MalaCards based summary : Wilms Tumor 6, also known as wilms tumor 6, susceptibility to, is related to wilms tumor 5, and has symptoms including abdominal pain An important gene associated with Wilms Tumor 6 is REST (RE1 Silencing Transcription Factor). The drugs Epirubicin and Vincristine have been mentioned in the context of this disorder. Related phenotype is nephroblastoma.

More information from OMIM: 616806 PS194070

Related Diseases for Wilms Tumor 6

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 Wilms Tumor 6 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 wilms tumor 5 11.3

Symptoms & Phenotypes for Wilms Tumor 6

Human phenotypes related to Wilms Tumor 6:

31
# Description HPO Frequency HPO Source Accession
1 nephroblastoma 31 HP:0002667

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Genitourinary Kidneys:
wilms tumor (nephroblastoma)

Neoplasia:
wilms tumor (nephroblastoma)

Clinical features from OMIM®:

616806 (Updated 20-May-2021)

UMLS symptoms related to Wilms Tumor 6:


abdominal pain

Drugs & Therapeutics for Wilms Tumor 6

Drugs for Wilms Tumor 6 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 26)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Epirubicin Approved Phase 4 56420-45-2 41867
2
Vincristine Approved, Investigational Phase 4 2068-78-2, 57-22-7 5978
3
Oxytetracycline Approved, Investigational, Vet_approved Phase 4 79-57-2 5280972 54715139
4
Doxorubicin Approved, Investigational Phase 4 23214-92-8 31703
5
Cyclophosphamide Approved, Investigational Phase 4 50-18-0, 6055-19-2 2907
6
Dactinomycin Approved, Investigational Phase 4 50-76-0 2019 457193
7
Pirarubicin Investigational Phase 4 72496-41-4
8 Antirheumatic Agents Phase 4
9
Liposomal doxorubicin Phase 4 31703
10 Tubulin Modulators Phase 4
11 Immunosuppressive Agents Phase 4
12 Anti-Bacterial Agents Phase 4
13 Antimitotic Agents Phase 4
14 Antibiotics, Antitubercular Phase 4
15 Alkylating Agents Phase 4
16 Anti-Infective Agents Phase 4
17 Immunologic Factors Phase 4
18
Etoposide Approved Phase 3 33419-42-0 36462
19
Carboplatin Approved Phase 3 41575-94-4 10339178 498142 38904
20 Etoposide phosphate Phase 3
21
Tretinoin Approved, Investigational, Nutraceutical Phase 2 302-79-4 5538 444795
22 interferons Phase 2
23 Interferon-alpha Phase 2
24 Dermatologic Agents Phase 2
25 Keratolytic Agents Phase 2
26 Interferon alpha-2 Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Multicenter, Randomized, Double-blind, Prospective Study to Evaluate the Efficacy and Safety of Vincristine, Dactinomycin/Cyclophosphamide Combination Therapy Combined With Liposomal Doxorubicin/Doxorubicin/Pharmorubicin/Pirarubicin in 0.5-14 Year Old Children With Nephroblastoma. Not yet recruiting NCT03892330 Phase 4 Vincristine;Oxytetracycline/ Cyclophosphamide;Liposomal doxorubicin;Doxorubicin;Pharmorubicin;Pirarubicin
2 Nephroblastoma Clinical Trial and Study Unknown status NCT00003804 Phase 3 vincristine sulfate
3 Nephroblastoma (Wilms Tumour) Clinical Trial And Study Unknown status NCT00047138 Phase 3 carboplatin;cyclophosphamide;doxorubicin hydrochloride;etoposide;vincristine sulfate
4 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 IFN-alpha with retinoic acid
5 Investigation of DICER1 in Cystic Nephroma and Cystic Partially Differentiated Nephroblastoma Completed NCT01353300
6 Diffusion-weighted Images as an Additional Method for Diagnosing Histological Types of Nephroblastoma in Children Recruiting NCT04814758
7 Therapeutic Recommendations for the Treatment of Children With Nephroblastoma in Africa. Recruiting NCT04423484
8 Pharmacogenetic Study of Antimitotic Therapies Involved in Hepatic Veno-occlusive Disease in Children With Nephroblastoma or Acute Lymphoblastic Leukemia Not yet recruiting NCT04168788

Search NIH Clinical Center for Wilms Tumor 6

Genetic Tests for Wilms Tumor 6

Genetic tests related to Wilms Tumor 6:

# Genetic test Affiliating Genes
1 Wilms Tumor 6 29 REST

Anatomical Context for Wilms Tumor 6

Publications for Wilms Tumor 6

Articles related to Wilms Tumor 6:

# Title Authors PMID Year
1
Mutations in the transcriptional repressor REST predispose to Wilms tumor. 57 6
26551668 2015
2
Pulmonary metastasectomy in pediatric patients. 61
26837694 2016
3
Testicular sperm extraction combined with intracytoplasmic sperm injection in the treatment of men with persistent azoospermia postchemotherapy. 61
11745242 2001
4
A dose-intensive, cyclophosphamide-based regimen for the treatment of recurrent/progressive or advanced solid tumors of childhood: a report from the Australia and New Zealand Children's Cancer Study Group. 61
9241083 1997
5
Phase I study of tumor necrosis factor-alpha and actinomycin D in pediatric patients with cancer: a Children's Cancer Group study. 61
7804527 1994
6
Malignant tumors in children of northeastern Zaire. A comparison of distribution patterns. 61
2302907 1990

Variations for Wilms Tumor 6

ClinVar genetic disease variations for Wilms Tumor 6:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 REST NM_005612.5(REST):c.965A>G (p.His322Arg) SNV risk factor 222004 rs869025312 GRCh37: 4:57786019-57786019
GRCh38: 4:56919853-56919853
2 REST NM_005612.5(REST):c.831_832del (p.Cys278fs) Deletion risk factor 222002 rs869025310 GRCh37: 4:57777635-57777636
GRCh38: 4:56911469-56911470
3 REST NM_005612.5(REST):c.773_776del (p.Val258fs) Deletion risk factor 222003 rs869025311 GRCh37: 4:57777575-57777578
GRCh38: 4:56911409-56911412

UniProtKB/Swiss-Prot genetic disease variations for Wilms Tumor 6:

72
# Symbol AA change Variation ID SNP ID
1 REST p.Arg160Pro VAR_076333
2 REST p.Asn290Tyr VAR_076334
3 REST p.His322Arg VAR_076335 rs869025312
4 REST p.His412Gln VAR_076336

Expression for Wilms Tumor 6

Search GEO for disease gene expression data for Wilms Tumor 6.

Pathways for Wilms Tumor 6

GO Terms for Wilms Tumor 6

Sources for Wilms Tumor 6

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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