MCID: CHL010
MIFTS: 37

Childhood Kidney Cell Carcinoma

Categories: Cancer diseases, Nephrological diseases

Aliases & Classifications for Childhood Kidney Cell Carcinoma

MalaCards integrated aliases for Childhood Kidney Cell Carcinoma:

Name: Childhood Kidney Cell Carcinoma 12 14
Pediatric Renal Cell Carcinoma 12
Childhood Renal Cell Carcinoma 69

Classifications:



External Ids:

Disease Ontology 12 DOID:4454
NCIt 46 C6568
UMLS 69 C1333001

Summaries for Childhood Kidney Cell Carcinoma

MalaCards based summary : Childhood Kidney Cell Carcinoma, also known as pediatric renal cell carcinoma, is related to renal cell carcinoma, nonpapillary and central nervous system mesenchymal non-meningothelial tumor, and has symptoms including flank pain An important gene associated with Childhood Kidney Cell Carcinoma is TPM3 (Tropomyosin 3), and among its related pathways/superpathways are Endometrial cancer and Pathways in cancer. The drugs Carboplatin and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include kidney and liver, and related phenotypes are cellular and mortality/aging

Related Diseases for Childhood Kidney Cell Carcinoma

Diseases related to Childhood Kidney Cell Carcinoma via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 30)
# Related Disease Score Top Affiliating Genes
1 renal cell carcinoma, nonpapillary 29.0 MITF PAX2 PRCC TFE3 TFEB TSC2
2 central nervous system mesenchymal non-meningothelial tumor 10.4 FOXO1 PAX3
3 waardenburg syndrome, type 2a 10.4 MITF TFE3
4 appendix carcinoid tumor 10.4 MLH1 MSH2
5 adenosquamous colon carcinoma 10.4 MLH1 MSH2
6 sebaceous adenoma 10.4 MLH1 MSH2
7 lower lip cancer 10.3 MLH1 MSH2
8 waardenburg syndrome, type 1 10.3 MITF PAX3
9 anal fistula 10.3 MLH1 MSH2
10 atypical polypoid adenomyoma 10.3 MLH1 MSH2
11 clear cell papillary renal cell carcinoma 10.3 MITF TFE3
12 pleomorphic rhabdomyosarcoma 10.3 FOXO1 PAX3
13 tietz albinism-deafness syndrome 10.3 MITF PAX3
14 rhabdomyosarcoma 2 10.2 ALK FOXO1 PAX3
15 lynch syndrome i 10.2 MLH1 MSH2
16 mismatch repair cancer syndrome 10.2 MLH1 MSH2 PAX3
17 skeletal muscle cancer 10.2 FOXO1 PAX3 TFE3
18 autosomal genetic disease 10.2 MLH1 MSH2 TSC2
19 autosomal dominant disease 10.2 MLH1 MSH2 PAX3
20 neurofibromatosis, type iv, of riccardi 10.2 MLH1 MSH2 TSC2
21 waardenburg's syndrome 10.2 MITF PAX3 TFE3
22 lung papillary adenocarcinoma 10.1 ALK EML4
23 renal cell carcinoma, papillary, 1 10.0 MITF PRCC TFE3
24 cochlear disease 10.0 MITF PAX3
25 inflammatory myofibroblastic tumor 10.0 ALK EML4 TPM3
26 alveolar soft part sarcoma 10.0 ASPSCR1 MLH1 TFE3
27 muscle cancer 9.9 ASPSCR1 FOXO1 PAX3 TFE3
28 lung adenoid cystic carcinoma 9.8 ALK EML4
29 microphthalmia 9.8 MITF PAX2 PAX3 TFE3 TFEB
30 renal cell carcinoma, xp11-associated 9.6 ASPSCR1 PRCC TFE3 TFEB

Graphical network of the top 20 diseases related to Childhood Kidney Cell Carcinoma:



Diseases related to Childhood Kidney Cell Carcinoma

Symptoms & Phenotypes for Childhood Kidney Cell Carcinoma

UMLS symptoms related to Childhood Kidney Cell Carcinoma:


flank pain

MGI Mouse Phenotypes related to Childhood Kidney Cell Carcinoma:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.1 F3 FOXO1 GPX7 MITF MLH1 MSH2
2 mortality/aging MP:0010768 10.1 MLH1 MSH2 PAX2 PAX3 TFE3 TFEB
3 integument MP:0010771 10.02 ALK F3 FOXO1 MITF MLH1 MSH2
4 embryo MP:0005380 9.97 TFEB TSC2 VCL F3 FOXO1 MITF
5 neoplasm MP:0002006 9.76 ALK F3 FOXO1 GPX7 MLH1 MSH2
6 pigmentation MP:0001186 9.43 ALK MITF PAX2 PAX3 TFE3 TFEB
7 vision/eye MP:0005391 9.23 ALK F3 MITF MLH1 PAX2 PAX3

Drugs & Therapeutics for Childhood Kidney Cell Carcinoma

Drugs for Childhood Kidney Cell Carcinoma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 49)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carboplatin Approved Phase 2,Phase 1 41575-94-4 10339178 38904 498142
2
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
3
Dactinomycin Approved, Investigational Phase 2 50-76-0 457193 2019
4
Doxorubicin Approved, Investigational Phase 2 23214-92-8 31703
5
Etoposide Approved Phase 2,Phase 1 33419-42-0 36462
6
Irinotecan Approved, Investigational Phase 2 97682-44-5, 100286-90-6 60838
7
Vincristine Approved, Investigational Phase 2 2068-78-2, 57-22-7 5978
8
Fludarabine Approved Phase 1, Phase 2 21679-14-1, 75607-67-9 30751
9
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
10
Mycophenolate mofetil Approved, Investigational Phase 1, Phase 2 128794-94-5 5281078
11
Mycophenolic acid Approved Phase 1, Phase 2 24280-93-1 446541
12
Vidarabine Approved, Investigational Phase 1, Phase 2 24356-66-9 21704 32326
13
Dasatinib Approved, Investigational Phase 1, Phase 2 302962-49-8 3062316
14
Ifosfamide Approved Phase 1, Phase 2 3778-73-2 3690
15
Mechlorethamine Approved, Investigational Phase 1, Phase 2 51-75-2 4033
16
Camptothecin Experimental Phase 2 7689-03-4
17
Doxil Approved June 1999 Phase 2 31703
18 Alkylating Agents Phase 2,Phase 1
19 Anti-Bacterial Agents Phase 2,Phase 1
20 Antibiotics, Antitubercular Phase 2,Phase 1
21 Anti-Infective Agents Phase 2,Phase 1
22 Antimitotic Agents Phase 2
23 Antineoplastic Agents, Phytogenic Phase 2,Phase 1
24 Antirheumatic Agents Phase 2,Phase 1
25 Etoposide phosphate Phase 2,Phase 1
26 Immunosuppressive Agents Phase 2,Phase 1
27 Nucleic Acid Synthesis Inhibitors Phase 2
28 topoisomerase I inhibitors Phase 2
29 Topoisomerase Inhibitors Phase 2,Phase 1
30 Liver Extracts Phase 1, Phase 2
31 Antifungal Agents Phase 1, Phase 2
32 Antimetabolites Phase 1, Phase 2
33 Antimetabolites, Antineoplastic Phase 1, Phase 2
34 Antitubercular Agents Phase 1, Phase 2
35 Antiviral Agents Phase 1, Phase 2
36 Calcineurin Inhibitors Phase 1, Phase 2
37 Cyclosporins Phase 1, Phase 2
38 Dermatologic Agents Phase 1, Phase 2
39 Vidarabine Phosphate Phase 1, Phase 2
40 Isophosphamide mustard Phase 1, Phase 2 0
41 Protein Kinase Inhibitors Phase 1, Phase 2
42
Busulfan Approved, Investigational Phase 1 55-98-1 2478
43
Lenograstim Approved, Investigational Phase 1 135968-09-1
44
Melphalan Approved Phase 1 148-82-3 460612 4053
45
Mesna Approved, Investigational Phase 1 3375-50-6 598
46 Thiotepa Approved, Investigational Phase 1 52-24-4 5453
47 Vaccines Phase 1
48 Adjuvants, Immunologic Phase 1
49 Cola Nutraceutical Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Combination Chemotherapy, Radiation Therapy, and/or Surgery in Treating Patients With High-Risk Kidney Tumors Completed NCT00335556 Phase 2 Doxorubicin Hydrochloride;Irinotecan Hydrochloride;Cyclophosphamide;Etoposide;Carboplatin;Vincristine Sulfate
2 Total-Body Irradiation and Fludarabine Phosphate Followed by Donor Peripheral Blood Stem Cell Transplant in Treating Patients With Hematologic Malignancies or Kidney Cancer Active, not recruiting NCT00027820 Phase 1, Phase 2 Fludarabine Phosphate;Cyclosporine;Mycophenolate Mofetil
3 Mycophenolate Mofetil and Cyclosporine in Reducing Graft-Versus-Host Disease in Patients With Hematologic Malignancies or Metastatic Kidney Cancer Undergoing Donor Stem Cell Transplant Active, not recruiting NCT00078858 Phase 1, Phase 2 fludarabine phosphate;cyclosporine;mycophenolate mofetil
4 Dasatinib, Ifosfamide, Carboplatin, and Etoposide in Treating Young Patients With Metastatic or Recurrent Malignant Solid Tumors Active, not recruiting NCT00788125 Phase 1, Phase 2 carboplatin;dasatinib;etoposide phosphate;ifosfamide
5 Irradiated Donor Lymphocyte Infusion in Treating Patients With Relapsed or Refractory Hematologic Cancer or Solid Tumor Completed NCT00161187 Phase 1
6 Vaccine Trial for Clear Cell Sarcoma, Pediatric Renal Cell Carcinoma, Alveolar Soft Part Sarcoma and Children With Stage IV Melanoma Active, not recruiting NCT00258687 Phase 1
7 MT2004-30: Tomotherapy for Solid Tumors Terminated NCT00623077 Phase 1 busulfan;etoposide;ifosfamide;melphalan;thiotepa;Mesna
8 Fludarabine Phosphate, Low-Dose Total Body Irradiation, and Donor Stem Cell Transplant in Treating Patients With Hematologic Malignancies or Kidney Cancer Active, not recruiting NCT00005799 fludarabine phosphate;cyclosporine;mycophenolate mofetil
9 Studying Tumor Tissue Samples From Patients Who Have Undergone Surgery for Localized Kidney Cancer Withdrawn NCT00908739

Search NIH Clinical Center for Childhood Kidney Cell Carcinoma

Genetic Tests for Childhood Kidney Cell Carcinoma

Anatomical Context for Childhood Kidney Cell Carcinoma

MalaCards organs/tissues related to Childhood Kidney Cell Carcinoma:

38
Kidney, Liver

Publications for Childhood Kidney Cell Carcinoma

Articles related to Childhood Kidney Cell Carcinoma:

# Title Authors Year
1
Biological characteristics of pediatric renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions. ( 24726108 )
2014
2
Persistent complete response after single-agent sunitinib treatment in a case of TFE translocation positive relapsed metastatic pediatric renal cell carcinoma. ( 22995920 )
2013
3
Pediatric renal cell carcinoma: clinical, pathologic, and molecular abnormalities associated with the members of the mit transcription factor family. ( 16880148 )
2006
4
Pediatric renal cell carcinomas with Xp11.2 rearrangements are immunoreactive for hMLH1 and hMSH2 proteins. ( 16328670 )
2005

Variations for Childhood Kidney Cell Carcinoma

Cosmic variations for Childhood Kidney Cell Carcinoma:

9 (show all 21)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA Conf
1 COSM25676 VHL kidney,NS,carcinoma,renal cell c.485G>T p.C162F 8
2 COSM27269 UMPS kidney,NS,carcinoma,renal cell c.528G>A p.L176L 8
3 COSM30474 TRIO kidney,NS,carcinoma,renal cell c.9008A>G p.N3003S 8
4 COSM26594 RNF144A kidney,NS,carcinoma,renal cell c.410C>T p.A137V 8
5 COSM26987 RGS7 kidney,NS,carcinoma,renal cell c.169T>C p.F57L 8
6 COSM26614 RABGAP1 kidney,NS,carcinoma,renal cell c.1533T>A p.H511Q 8
7 COSM30530 PTPN22 kidney,NS,carcinoma,renal cell c.209G>C p.R70P 8
8 COSM27618 KMT2A kidney,NS,carcinoma,renal cell c.5711C>T p.A1904V 8
9 COSM30502 ITPR3 kidney,NS,carcinoma,renal cell c.4574G>T p.C1525F 8
10 COSM28415 DOCK1 kidney,NS,carcinoma,renal cell c.1306G>T p.D436Y 8
11 COSM30531 COPS4 kidney,NS,carcinoma,renal cell c.385G>C p.G129R 8
12 COSM25654 CDC5L kidney,NS,carcinoma,renal cell c.1196G>A p.R399Q 8
13 COSM30471 ARHGAP20 kidney,NS,carcinoma,renal cell c.1355A>G p.D452G 8
14 COSM17983 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.500G>A p.R167Q 6
15 COSM14312 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.353T>C p.L118P 6
16 COSM17957 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.292T>G p.Y98D 6
17 COSM14382 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.245G>C p.R82P 6
18 COSM14305 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.266T>A p.L89H 6
19 COSM17875 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.234T>G p.N78K 6
20 COSM14425 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.341-2A>T p.? 6
21 COSM52899 PBRM1 kidney,NS,carcinoma,renal cell carcinoma unclassified c.3805A>T p.K1269* 6

Expression for Childhood Kidney Cell Carcinoma

Search GEO for disease gene expression data for Childhood Kidney Cell Carcinoma.

Pathways for Childhood Kidney Cell Carcinoma

GO Terms for Childhood Kidney Cell Carcinoma

Cellular components related to Childhood Kidney Cell Carcinoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mismatch repair complex GO:0032300 8.62 MLH1 MSH2

Biological processes related to Childhood Kidney Cell Carcinoma according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.97 FOXO1 MITF PAX2 PAX3 TFE3 TFEB
2 humoral immune response GO:0006959 9.54 MITF TFE3 TFEB
3 somatic hypermutation of immunoglobulin genes GO:0016446 9.48 MLH1 MSH2
4 regulation of osteoclast differentiation GO:0045670 9.46 MITF TFE3
5 isotype switching GO:0045190 9.43 MLH1 MSH2
6 positive regulation of transcription, DNA-templated GO:0045893 9.43 FOXO1 MITF PAX2 PAX3 TFE3 TFEB
7 positive regulation of isotype switching to IgG isotypes GO:0048304 9.4 MLH1 MSH2
8 protein kinase B signaling GO:0043491 9.33 FOXO1 PAX2 TSC2
9 positive regulation of isotype switching to IgA isotypes GO:0048298 9.32 MLH1 MSH2
10 somatic recombination of immunoglobulin gene segments GO:0016447 9.26 MLH1 MSH2
11 somatic recombination of immunoglobulin genes involved in immune response GO:0002204 8.62 MLH1 MSH2

Molecular functions related to Childhood Kidney Cell Carcinoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mismatched DNA binding GO:0030983 8.96 MLH1 MSH2
2 guanine/thymine mispair binding GO:0032137 8.62 MLH1 MSH2

Sources for Childhood Kidney Cell Carcinoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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