RCC
MCID: RNL114
MIFTS: 80

Renal Cell Carcinoma, Nonpapillary (RCC)

Categories: Cancer diseases, Genetic diseases, Nephrological diseases, Rare diseases
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Aliases & Classifications for Renal Cell Carcinoma, Nonpapillary

MalaCards integrated aliases for Renal Cell Carcinoma, Nonpapillary:

Name: Renal Cell Carcinoma, Nonpapillary 57
Renal Cell Carcinoma 57 11 19 58 75 73 28 5 14 16 71
Nonpapillary Renal Cell Carcinoma 11 28 5 14
Clear Cell Renal Cell Carcinoma 11 19 58 14
Rcc 57 11 58 73
Clear-Cell Metastatic Renal Cell Carcinoma 11 19 71
Renal Carcinoma, Chromophobe, Somatic 57 12 5
Clear Cell Carcinoma of Kidney 11 28 5
Clear Cell Renal Carcinoma 58 73 16
Adenocarcinoma of Kidney 57 11 73
Hypernephroma 57 11 73
Hereditary Clear Cell Renal Cell Carcinoma 58 71
Conventional Renal Cell Carcinoma 11 71
Conventional Renal Cell Carcinoma 11 73
Renal Cell Carcinoma, Somatic 57 5
Renal Clear Cell Carcinoma 11 53
Carcinoma, Renal Cell 43 38
Ccrcc 58 73
Hereditary Clear Cell Renal Cell Adenocarcinoma 58
Renal Cell Carcinoma, Clear Cell, Somatic 57
Clear Cell Renal Cell Adenocarcinoma 58
Carcinoma, Renal Cell, Nonpapillary 38
Renal Cell Carcinoma Non-Papillary 73
Renal Cell Carcinoma, Clear Cell 57
Clear Cell Kidney Carcinoma 11
Cystic-Multilocular Variant 19
Common Renal Cell Carcinoma 73
Carcinoma Renal Cell 53
Renal Cell Cancer 14
Clear Cell Rcc 19
Crcc 73

Characteristics:


Prevelance:

Renal Cell Carcinoma: 1-5/10000 (Europe) 1-9/100000 (Europe) 58
Clear Cell Renal Carcinoma: 1-9/100000 (Europe) 58

Age Of Onset:

Renal Cell Carcinoma: Adult 58
Clear Cell Renal Carcinoma: Adult,Elderly 58
Hereditary Clear Cell Renal Cell Carcinoma: Adult 58

Classifications:

Orphanet: 58  
Rare renal diseases


External Ids:

Disease Ontology 11 DOID:0050387 DOID:4450 DOID:4467
OMIM® 57 144700
MeSH 43 D002292
NCIt 49 C4033 C9385
SNOMED-CT 68 254915003
MESH via Orphanet 44 D002292
ICD10 via Orphanet 32 C64
UMLS via Orphanet 72 C0007134 C0279702
SNOMED-CT via HPO 69 41607009 702391001
UMLS 71 C0007134 C0279702 C1333985 more

Summaries for Renal Cell Carcinoma, Nonpapillary

OMIM®: 57 The Heidelberg histologic classification of renal cell tumors subdivides renal cell tumors into benign and malignant parenchymal neoplasms and, where possible, limits each subcategory to the most common documented genetic abnormalities (Kovacs et al., 1997). Malignant tumors are subclassified into common or conventional renal cell carcinoma (clear cell); papillary renal cell carcinoma; chromophobe renal cell carcinoma; collecting duct carcinoma, with medullary carcinoma of the kidney; and unclassified renal cell carcinoma. The common or conventional type accounts for about 75% of renal cell neoplasms and is characterized genetically by a highly specific deletion of chromosome 3p. Papillary renal cell carcinoma (see 605074) accounts for about 10% of renal cell tumors. Chromophobe renal cell carcinoma accounts for approximately 5% of renal cell neoplasms. Genetically, chromophobe RCC is characterized by a combination of loss of heterozygosity of chromosomes 1, 2, 6, 10, 13, 17, and 21 and hypodiploid DNA content. Collecting duct carcinoma accounts for about 1% of renal cell carcinoma. Renal cell carcinoma occurs nearly twice as often in men as in women; incidence in the United States is equivalent among whites and blacks. Cigarette smoking doubles the likelihood of renal cell carcinoma and contributes to as many as one-third of cases. Obesity is also a risk factor, particularly in women. Other risk factors include hypertension, unopposed estrogen therapy, and occupational exposure to petroleum products, heavy metals, or asbestos (summary by Motzer et al., 1996). (144700) (Updated 24-Oct-2022)

MalaCards based summary: Renal Cell Carcinoma, Nonpapillary, also known as renal cell carcinoma, is related to hereditary renal cell carcinoma and chromophobe renal cell carcinoma, and has symptoms including flank pain An important gene associated with Renal Cell Carcinoma, Nonpapillary is FLCN (Folliculin), and among its related pathways/superpathways is Clear cell renal cell carcinoma pathways. The drugs Midazolam and Fentanyl have been mentioned in the context of this disorder. Affiliated tissues include kidney, endothelial and cortex, and related phenotypes are renal cell carcinoma and Increased shRNA abundance (Z-score > 2)

Orphanet 58 Clear cell renal carcinoma: A rare renal tumor arising from proximal tubular epithelial cells of the renal cortex, characterized histologically by malignant epithelial cells with typical clear cytoplasm in conventional staining methods due to a high glycogen and lipid content, featuring a nested growth pattern. Clinically it may present with hematuria, flank pain, anemia or, less commonly, a palpable abdominal mass.

Hereditary clear cell renal cell carcinoma: Hereditary clear cell renal cell carcinoma (ccRCC) is a hereditary renal cancer syndrome defined as development of ccRCC in two or more family members without evidence of constitutional chromosome 3 translocation, von Hippel-Lindau disease or other tumor predisposing syndromes associated with ccRCC, such as tuberous sclerosis or Birt-Hogg-Dubbé syndrome.

GARD: 19 Clear cell renal cell carcinoma is a cancer of the kidney. The name "clear cell" refers to the appearance of the cancer cells when viewed with a microscope. Clear cell renal cell carcinoma occurs when cells in the kidney quickly increase in number, creating a lump (mass). Though the exact cause of Clear cell renal cell carcinoma is unknown, smoking, the excessive use of certain medications, and several genetic predisposition conditions (such as von Hippel Lindau syndrome) may contribute to the development of this type of cancer.

UniProtKB/Swiss-Prot: 73 Renal cell carcinoma is a heterogeneous group of sporadic or hereditary carcinoma derived from cells of the proximal renal tubular epithelium. It is subclassified into clear cell renal carcinoma (non- papillary carcinoma), papillary renal cell carcinoma, chromophobe renal cell carcinoma, collecting duct carcinoma with medullary carcinoma of the kidney, and unclassified renal cell carcinoma. Clear cell renal cell carcinoma is the most common subtype.

Disease Ontology 11 Nonpapillary renal cell carcinoma: A hereditary renal cell carcinoma that has material basis in a loss of 3p13-pter sequences.

Renal cell carcinoma: A renal carcinoma that has material basis in the lining of the proximal convoluted renal tubule of the kidney.

Clear cell renal cell carcinoma: A renal cell carcinoma that has material basis in cells that appear very pale or clear when examined under microscope.

Wikipedia: 75 Renal cell carcinoma (RCC) is a kidney cancer that originates in the lining of the proximal convoluted... more...

Related Diseases for Renal Cell Carcinoma, Nonpapillary

Diseases related to Renal Cell Carcinoma, Nonpapillary via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1617)
# Related Disease Score Top Affiliating Genes
1 hereditary renal cell carcinoma 33.8 VHL RNF139 PBRM1 MET FLCN FHIT
2 chromophobe renal cell carcinoma 33.6 VHL SETD2 RNF139 PBRM1 OGG1 MTOR
3 renal cell carcinoma, papillary, 1 33.6 VHL SETD2 PBRM1 MTOR MET LOC107303340
4 kidney cancer 33.5 VHL SETD2 MTOR MIR200C MIR141 MET
5 clear cell papillary renal cell carcinoma 33.2 PBRM1 HNF1A
6 von hippel-lindau syndrome 32.9 VHL MET LOC107303340 FLCN
7 collecting duct carcinoma 32.8 VHL SETD2 RNF139 PBRM1 OGG1 FLCN
8 lung cancer susceptibility 3 32.0 SETD2 OGG1 MIR200C MIR141 MET FHIT
9 kidney angiomyolipoma 31.8 MTOR FLCN
10 cholangiocarcinoma 31.7 PBRM1 OGG1 MTOR MIR141 MET FHIT
11 oncocytoma 31.5 VHL HNF1B FLCN
12 glioblastoma 31.5 SETD2 MTOR MET LINC00963 C11orf65 ATM
13 chordoma 31.3 SETD2 PBRM1 MTOR MET
14 cystic kidney disease 31.3 VHL MTOR HNF1B FLCN
15 inherited cancer-predisposing syndrome 31.2 VHL MET LOC107303340 FLCN C11orf65 ATM
16 bap1 tumor predisposition syndrome 31.2 VHL MET LOC107303340 FLCN C11orf65 ATM
17 renal pelvis carcinoma 31.1 SETD2 PBRM1
18 familial renal papillary carcinoma 31.1 MET FLCN
19 tuberous sclerosis 30.9 VHL MTOR FLCN
20 high grade glioma 30.8 MET LINC00963 C11orf65 ATM
21 cowden syndrome 30.7 MTOR FLCN ATM
22 polycystic kidney disease 4 with or without polycystic liver disease 30.7 MTOR HNF1B HNF1A
23 hematologic cancer 30.6 MTOR MIR200C MIR141 ATM
24 melanoma, cutaneous malignant 8 11.7
25 multilocular cystic renal neoplasm of low malignant potential 11.6
26 mucinous tubular and spindle renal cell carcinoma 11.5
27 childhood kidney cell carcinoma 11.4
28 eosinophilic variant of chromophobe renal cell carcinoma 11.3
29 multilocular clear cell renal cell carcinoma 11.3
30 renal cell carcinoma, xp11-associated 11.3
31 hereditary conventional renal cell carcinoma 11.3
32 birt-hogg-dube syndrome 11.2
33 classic variant of chromophobe renal cell carcinoma 11.1
34 cowden syndrome 1 11.1
35 tumor predisposition syndrome 1 11.1
36 cowden syndrome 4 11.1
37 cowden syndrome 5 11.1
38 cowden syndrome 6 11.1
39 cowden syndrome 7 11.1
40 thyroid carcinoma, papillary, with papillary renal neoplasia 11.0
41 chromophil renal cell carcinoma 11.0
42 exanthem 10.9
43 hypothyroidism 10.8
44 pulmonary embolism 10.7
45 t-cell prolymphocytic leukemia 10.7 MIR200C MIR141 C11orf65 ATM
46 leiomyoma 10.7
47 49, xxxxy syndrome 10.7
48 49,xxxxx syndrome 10.7
49 49,xyyyy syndrome 10.7
50 pancreatic cancer 10.7

Graphical network of the top 20 diseases related to Renal Cell Carcinoma, Nonpapillary:



Diseases related to Renal Cell Carcinoma, Nonpapillary

Symptoms & Phenotypes for Renal Cell Carcinoma, Nonpapillary

Human phenotypes related to Renal Cell Carcinoma, Nonpapillary:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 renal cell carcinoma 30 HP:0005584

Clinical features from OMIM®:

144700 (Updated 24-Oct-2022)

UMLS symptoms related to Renal Cell Carcinoma, Nonpapillary:


flank pain

GenomeRNAi Phenotypes related to Renal Cell Carcinoma, Nonpapillary according to GeneCards Suite gene sharing:

25 (show all 19)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-10 9.62 MET
2 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.62 MET
3 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.62 FLCN
4 Increased shRNA abundance (Z-score > 2) GR00366-A-119 9.62 HNF1B MET
5 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.62 FLCN
6 Increased shRNA abundance (Z-score > 2) GR00366-A-150 9.62 FLCN
7 Increased shRNA abundance (Z-score > 2) GR00366-A-181 9.62 FLCN
8 Increased shRNA abundance (Z-score > 2) GR00366-A-183 9.62 FLCN
9 Increased shRNA abundance (Z-score > 2) GR00366-A-184 9.62 FLCN
10 Increased shRNA abundance (Z-score > 2) GR00366-A-185 9.62 MET
11 Increased shRNA abundance (Z-score > 2) GR00366-A-191 9.62 MET
12 Increased shRNA abundance (Z-score > 2) GR00366-A-201 9.62 MET
13 Increased shRNA abundance (Z-score > 2) GR00366-A-38 9.62 MET
14 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.62 MET
15 Increased shRNA abundance (Z-score > 2) GR00366-A-5 9.62 HNF1B
16 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.62 MET
17 Increased shRNA abundance (Z-score > 2) GR00366-A-76 9.62 FLCN
18 Increased shRNA abundance (Z-score > 2) GR00366-A-80 9.62 MET
19 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.62 MET

MGI Mouse Phenotypes related to Renal Cell Carcinoma, Nonpapillary:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 9.5 ATM FHIT FLCN MET OGG1 SETD2
2 immune system MP:0005387 9.4 ATM FHIT FLCN HNF1B HSPBAP1 MET

Drugs & Therapeutics for Renal Cell Carcinoma, Nonpapillary

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

(show top 50) (show all 436)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
2
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
3
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
4
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
5
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
6
Zoledronic acid Approved Phase 4 118072-93-8 68740
7
Caffeine Approved Phase 4 58-08-2 2519
8
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
9
Dexmedetomidine Approved, Experimental, Vet_approved Phase 4 86347-14-0, 113775-47-6 68602 5311068
10 Pharmaceutical Solutions Phase 4
11 Neurotransmitter Agents Phase 4
12 GABA Modulators Phase 4
13 Anesthetics, Intravenous Phase 4
14 Anesthetics, General Phase 4
15 Anesthetics Phase 4
16 Psychotropic Drugs Phase 4
17 Hypnotics and Sedatives Phase 4
18 Anti-Anxiety Agents Phase 4
19 Adrenergic alpha-Agonists Phase 4
20 Adrenergic Agonists Phase 4
21 Adrenergic Agents Phase 4
22 Anesthetics, Inhalation Phase 4
23 Anesthetics, Local Phase 4
24 Platelet Aggregation Inhibitors Phase 4
25 Analgesics, Opioid Phase 4
26 Mydriatics Phase 4
27 Bronchodilator Agents Phase 4
28 Sympathomimetics Phase 4
29 Respiratory System Agents Phase 4
30 Anti-Asthmatic Agents Phase 4
31 Vasoconstrictor Agents Phase 4
32 Adrenergic beta-Agonists Phase 4
33 Central Nervous System Stimulants Phase 4
34 Phosphodiesterase Inhibitors Phase 4
35 Antiviral Agents Phase 4
36 interferons Phase 4
37
Minocycline Approved, Investigational Phase 3 10118-90-8, 13614-98-7 54675783 5281021
38
Sorafenib Approved, Investigational Phase 3 284461-73-0 216239
39
Carboplatin Approved Phase 3 41575-94-4 10339178 38904
40
Dactinomycin Approved, Investigational Phase 3 50-76-0 2019 457193
41
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
42
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
43
Lenograstim Approved, Investigational Phase 3 135968-09-1
44
Clonidine Approved Phase 2, Phase 3 4205-91-8, 4205-90-7 2803 20179
45
Promethazine Approved, Investigational Phase 3 60-87-7 4927
46
Diphenhydramine Approved, Investigational Phase 3 147-24-0, 58-73-1 3100
47
Peginterferon alfa-2a Approved, Investigational Phase 2, Phase 3 198153-51-4
48
Medroxyprogesterone acetate Approved, Investigational Phase 3 520-85-4, 71-58-9 10631 6279
49
Sunitinib Approved, Investigational Phase 3 557795-19-4 5329102
50
Dopamine Approved Phase 3 62-31-7, 51-61-6 681

Interventional clinical trials:

(show top 50) (show all 1615)
# Name Status NCT ID Phase Drugs
1 Study to the Optimal Duration of Therapy With Oral Angiogenesis Inhibitors Unknown status NCT00777504 Phase 4 usage oral angiogenesis inhibitor;stop oral angiogenesis inhibitor
2 A Single Arm Multicentre Study Evaluating Pazopanib in First-line Treatment of Poor-risk Patients With Locally Advanced or Metastatic Renal Cell Carcinoma Completed NCT01521715 Phase 4 Pazopanib
3 An Open Label, Single Arm Trial to Characterize Patients With Metastatic Renal Cell Carcinoma Treated With Everolimus After Failure of the First VEGF-targeted Therapy Completed NCT01266837 Phase 4 Everolimus
4 An Open-label, Multi-center Phase 2 Study to Evaluate Everolimus as Monotherapy Treatment for Patients With Metastatic Recurrent and/or Unresectable Renal Cell Carcinoma (EVERMORE). Completed NCT01206764 Phase 4 RAD001
5 Everolimus (Afinitor) in Patients With Metastatic Renal Cell Carcinoma Following Progression on Prior Bevacizumab Treatment Completed NCT02056587 Phase 4 Everolimus
6 A Phase 3b/4 Safety Trial of Nivolumab (BMS-936558) in Subjects With Advanced or Metastatic Renal Cell Carcinoma (CheckMate 374: CHECKpoint Pathway and Nivolumab Clinical Trial Evaluation 374) Completed NCT02596035 Phase 4 Nivolumab
7 An Open Label, Single Arm Trial to Evaluate Patients With Metastatic Renal Cell Carcinoma Treated With Everolimus After Failure of First Line Therapy With Sunitinib or Pazopanib Completed NCT01514448 Phase 4 Everolimus (RAD001)
8 Therapeutic Drug Monitoring of Sunitinib and Pazopanib in Advanced or Metastatic Renal Cell Carcinoma Completed NCT02555748 Phase 4 Pazopanib;Sunitinib
9 A Single-Arm, Open-Label, Multi-Center, Phase Iv, Safety And Efficacy Study Of Sunitinib Malate As First-Line Systemic Therapy In Chinese Patients With Metastatic Renal Cell Carcinoma (Post Approval Commitment Study) Completed NCT00706706 Phase 4 Sunitinib Malate (SU011248)
10 Open-label Pharmacokinetic Trial of Aldesleukin (Rh-Interleukin-2 [IL-2]) Administered Intravenously to Subjects With Metastatic Renal Cell Carcinoma or Metastatic Melanoma With Immunologic Correlative Studies Completed NCT00414765 Phase 4 Aldesleukin
11 Interleukin-2 In An Alternative Dose (The Iliad Trial): Treatment Of Patients With Metastatic Renal Cell Carcinoma With Low Dose Proleukin Completed NCT00006864 Phase 4
12 Phase 3b/4 Safety Trial of Nivolumab Combined With Ipilimumab in Subjects With Previously Untreated, Advanced or Metastatic RCC (CheckMate 920: CHECKpoint Pathway and nivoluMAb Clinical Trial Evaluation 920) Completed NCT02982954 Phase 4 Nivolumab;Ipilimumab
13 Evaluation of Cardiac Arrhythmias in Patients Undergoing Kidney Cancer Surgery Depending on the Anaesthesia Method Completed NCT02988219 Phase 4 Bupivacaine-fentanyl
14 Immunomodulatory Effects of Volatile and Total Intravenous Anesthesia for Patients With Renal Cancer Completed NCT03514550 Phase 4 Propofol;Sevoflurane
15 Effects of Dexmedetomidine on Periprocedural Pain During Radiofrequency Ablation of Liver and Kidney Tumours Completed NCT02016391 Phase 4 Dexmedetomidine
16 Cytochrom p450 3A4 and 1A2 Phenotyping for the Individualization of Treatment With Sunitinib or Erlotinib in Cancer Patients Completed NCT01402089 Phase 4 Sunitinib;Erlotinib;Midazolam;Caffeine
17 Effect of Zoledronic Acid in Patients With Renal Cell Cancer and Bone Metastasis Completed NCT00172003 Phase 4 Zoledronic acid
18 A Phase 4 Study of Nivolumab in Combination With Ipilimumab in Patients With Previously Untreated Advanced Renal Cell Carcinoma and Intermediate-or Poor-risk Factors Conducted in India Recruiting NCT04513522 Phase 4
19 Correlation of Contrast Enhanced Ultrasound of Renal Masses With Pathologic Grade: A Prospective Comparison of Quantitative and Qualitative Findings Recruiting NCT03821376 Phase 4 Contrast enhanced ultrasound with Lumason
20 A Proof of Concept Study to Evaluate the Use of Metabonomics and Lipidomics in Predicting Toxicity and Efficacy of Anti-VEGF Therapy in Patients With Metastatic Clear Cell Renal Cell Carcinoma Terminated NCT02570789 Phase 4 patients with sunitinib or pazopanib
21 A Study of Biological, Pathological and Imagery Markers in the First-line Treatment of Metastatic Clear-cell Renal Cell Carcinoma With Sunitinib BEFORE and AFTER Nephrectomy Terminated NCT00930345 Phase 4 Sunitinib (SUTENT)
22 A Randomized Discontinuation Trial to Determine the Clinical Benefit of Continuation of Sorafenib Following Disease Progression in Patients With Advanced Renal Cell Carcinoma Terminated NCT00352859 Phase 4 Nexavar (Sorafenib, BAY43-9006) with addition of gemcitabine or interferon;Gemcitabine or Interferon (only)
23 Outcome-related Factors in Patients With Metastatic Renal Cell Carcinoma Treated With Everolimus After Failure of a First-line Treatment With VEGF Inhibitor Terminated NCT02338570 Phase 4 Everolimus
24 Randomized Comparison of Sequential Therapies With Sunitinib and Sorafenib in Advanced Renal Cell Carcinoma Unknown status NCT01481870 Phase 3 Sorafenib-sunitinib;Sunitinib-sorafenib
25 Effects of Physical Activity on the Endothelial and Cardiac Function of Patients With Renal Cell Carcinoma Receiving a Thyrosine Kinase Inhibitor (Sunitinib) Unknown status NCT00869011 Phase 3
26 Randomized Phase III Trial Comparing Immediate Versus Deferred Nephrectomy in Patients With Synchronous Metastatic Renal Cell Carcinoma Unknown status NCT01099423 Phase 3
27 Minocycline Attenuate Postoperative Cognitive Dysfunction and Delirium: A Multicenter, Randomized, Double-Blind Clinical Trail Unknown status NCT02928692 Phase 3 Minocycline;Placebo
28 A Randomised, Double-blind Study to Evaluate the Efficacy and Safety of Avastin Plus Roferon Compared With Placebo Plus Roferon on Overall Survival and Tumor Assessment in Nephrectomised Patients With Metastatic Clear Cell Renal Cell Carcinoma Completed NCT00738530 Phase 3 Bevacizumab [Avastin];Interferon alfa 2a [Roferon];Placebo
29 Randomized Study of Spinal Anesthesia Compared With Traditional Epidural Anesthesia Concerning Peroperative and Postoperative Pain After Open Nephrectomy in Patients With Renal Cell Carcinoma Completed NCT02030717 Phase 2, Phase 3 klonidin;epidural anesthesia
30 A Phase 3, Randomized, Controlled, Multi-Center, Open-Label Study to Compare Tivozanib Hydrochloride to Sorafenib in Subjects With Refractory Advanced Renal Cell Carcinoma Completed NCT02627963 Phase 3 tivozanib hydrochloride;Sorafenib
31 A Phase III Randomized Sequential Open-Label Study to Evaluate the Efficacy and Safety of Sorafenib Followed by Sunitinib Versus Sunitinib Followed by Sorafenib in the Treatment of First-Line Advanced / Metastatic Renal Cell Carcinoma Completed NCT00732914 Phase 3 Sunitinib (Sutent);Sorafenib (Nexavar)
32 Study VEG108844, A Study of Pazopanib Versus Sunitinib in the Treatment of Subjects With Locally Advanced and/or Metastatic Renal Cell Carcinoma Completed NCT00720941 Phase 3 Pazopanib;Sunitinib
33 An Open-label, Randomized, Multi-center, Phase III Study to Compare the Safety and Efficacy of Dovitinib Versus Sorafenib in Patients With Metastatic Renal Cell Carcinoma After Failure of Anti-angiogenic (VEGF-targeted and mTOR Inhibitor) Therapies Completed NCT01223027 Phase 3 Dovitinib;Sorafenib
34 Zirconium-89-girentuximab PET/CT Imaging in Patients Suspected of Primary or Relapse Clear Cell Renal Cell Carcinoma: The Impact on Clinical Decision Making. Completed NCT02883153 Phase 2, Phase 3 Zirconium-89 girentuximab PET/CT
35 Phase III Randomized Double-blind Cross-over Trial of Caphosol® Versus NaCl 0.9% in the Relief of Oral Mucositis in Renal Cell Carcinoma, Hepatocellular Carcinoma, and Gastrointestinal Stromal Tumor Patients Receiving Targeted Therapy Completed NCT01265810 Phase 3
36 A Randomized, Controlled Phase III Study Investigating IMA901 Multipeptide Cancer Vaccine in Patients Receiving Sunitinib as First-line Therapy for Advanced/Metastatic Renal Cell Carcinoma Completed NCT01265901 Phase 3 Sunitinib;Cyclophosphamide;IMA901
37 A Phase 3, Randomized, Controlled Study of Cabozantinib (XL184) vs Everolimus in Subjects With Metastatic Renal Cell Carcinoma That Has Progressed After Prior VEGFR Tyrosine Kinase Inhibitor Therapy Completed NCT01865747 Phase 3 Cabozantinib tablets;Everolimus (Afinitor) tablets
38 A Comparative Study of PET/CT Versus Diagnostic CT for the Detection of Clear Cell Renal Cell Carcinoma in Pre-surgical Patients With Renal Masses Using Iodine-124 Labeled Chimeric G250 (124I-cG250) Completed NCT00606632 Phase 3 124-Iodine-cG250 (124I-cG250)
39 An Open-label, Non-comparative, Treatment Protocol for the Use of BAY 43-9006 (Sorafenib) in Patients With Advanced Renal Cell Carcinoma Completed NCT00478114 Phase 3 sorafenib
40 A Randomized Trial Of Temsirolimus Versus Sorafenib As Second-Line Therapy In Patients With Advanced Renal Cell Carcinoma Who Have Failed First-Line Sunitinib Therapy Completed NCT00474786 Phase 3 Sorafenib;temsirolimus (Torisel)
41 Phase III Randomized Study of Intravenous Low Dose Versus Intravenous High Dose Versus Subcutaneous Interleukin-2 for Metastatic Renal Cell Carcinoma Completed NCT00018941 Phase 3
42 Phase III Randomized Trial of Interferon-Alfa2b Alone Versus Interferon-Alfa2b Plus Thalidomide in Patients With Previously Untreated Metastatic or Unresectable Renal Cell Carcinoma Completed NCT00005966 Phase 3 thalidomide
43 An Open Label, Non Comparative, Phase III Study of the Raf Kinase Inhibitor BAY 43-9006 as a Subsequent to First Line Therapy in Patients With Advanced Renal Cell Carcinoma Completed NCT00492986 Phase 3 Nexavar (Sorafenib, BAY43-9006)
44 Open Label, Non-Comparative Treatment Protocol for the Use of Sorafenib in Patients With Advanced Renal Cell Carcinoma Completed NCT00111020 Phase 3 Sorafenib (Nexavar, BAY43-9006)
45 A Randomized Controlled Phase III Adjuvant Trial of High-Dose Bolus IL-2 in Patients With High-Risk Renal Cell Carcinoma Completed NCT00003126 Phase 3 Interleukin-2
46 A Prospective Randomized Phase III Study Comparing Radical Surgery to Elective Kidney Sparing Surgery for Low Stage Renal Cell Carcinoma Completed NCT00002473 Phase 3
47 Extension Protocol for Patients With Chronic Myelogenous Leukemia, Malignant Melanoma or Renal Cell Carcinoma That Have Responded to Treatment With Pegylated-Interferon α-2a or Roferon-A® in Prior Clinical Studies Completed NCT02829775 Phase 2, Phase 3 Pegylated Interferon Alfa-2a;Recombinant Interferon Alfa 2a
48 Randomized Phase III Trial Evaluating the Importance of Nephrectomy in Patients Presenting With Metastatic Renal Cell Carcinoma Treated With Sunitinib Completed NCT00930033 Phase 3
49 A Randomised Double-blind Cross-over Patient Preference Study of Pazopanib Versus Sunitinib in Treatment naïve Locally Advanced or Metastatic Renal Cell Carcinoma. Completed NCT01064310 Phase 3 pazopanib;sunitinib
50 A Multicenter Uncontrolled Study of Sorafenib in Patients With Unresectable and/or Metastatic Renal Cell Carcinoma Completed NCT00586105 Phase 3 Sorafenib (Nexavar, BAY43-9006)

Search NIH Clinical Center for Renal Cell Carcinoma, Nonpapillary

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Aldesleukin
axitinib
cabozantinib
hydroxyurea
Interferon Alfa-2a
Interferon Alfa-2b
INTERFERON ALFA-3N,HUMAN LEUKOCYTE DERIVED
interferon alfacon-1
Interferon gamma-1b
Interferons
lenvatinib
Medroxyprogesterone
medroxyprogesterone acetate
peginterferon alfa-2a
peginterferon alfa-2b
Recombinant interferon beta-1a
Recombinant interferon beta-1b
sorafenib
sunitinib
sunitinib malate
temsirolimus
Thalidomide

Cochrane evidence based reviews: carcinoma, renal cell

Genetic Tests for Renal Cell Carcinoma, Nonpapillary

Genetic tests related to Renal Cell Carcinoma, Nonpapillary:

# Genetic test Affiliating Genes
1 Clear Cell Carcinoma of Kidney 28
2 Nonpapillary Renal Cell Carcinoma 28 FLCN HNF1A HNF1B OGG1 PBRM1 RNF139 VHL
3 Renal Cell Carcinoma 28

Anatomical Context for Renal Cell Carcinoma, Nonpapillary

Organs/tissues related to Renal Cell Carcinoma, Nonpapillary:

MalaCards : Kidney, Endothelial, Cortex, Lymph Node, T Cells, Lung, Bone
ODiseA: Kidney

Publications for Renal Cell Carcinoma, Nonpapillary

Articles related to Renal Cell Carcinoma, Nonpapillary:

(show top 50) (show all 37376)
# Title Authors PMID Year
1
A germline mutation in PBRM1 predisposes to renal cell carcinoma. 62 57 5
25911086 2015
2
Germline hepatocyte nuclear factor 1alpha and 1beta mutations in renal cell carcinomas. 53 57 5
15649945 2005
3
Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes. 53 62 57
20054297 2010
4
Molecular analysis of a familial case of renal cell cancer and a t(3;6)(q12;q15). 53 62 57
11284032 2001
5
Familial clear cell renal cell carcinoma (FCRC): clinical features and mutation analysis of the VHL, MET, and CUL2 candidate genes. 53 62 57
10807693 2000
6
Fructose-1,6-bisphosphatase opposes renal carcinoma progression. 62 57
25043030 2014
7
Integrated molecular analysis of clear-cell renal cell carcinoma. 62 57
23797736 2013
8
Comprehensive molecular characterization of clear cell renal cell carcinoma. 62 57
23792563 2013
9
BAP1 loss defines a new class of renal cell carcinoma. 62 57
22683710 2012
10
A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma. 62 57
22012259 2011
11
Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma. 62 57
21248752 2011
12
Analysis of Drosophila segmentation network identifies a JNK pathway factor overexpressed in kidney cancer. 62 57
19164706 2009
13
Genome-wide microRNA expression profiling in renal cell carcinoma: significant down-regulation of miR-141 and miR-200c. 53 62 46
18925646 2008
14
External validation of IMP3 expression as an independent prognostic marker for metastatic progression and death for patients with clear cell renal cell carcinoma. 62 57
18260086 2008
15
A constitutional balanced t(3;8)(p14;q24.1) translocation results in disruption of the TRC8 gene and predisposition to clear cell renal cell carcinoma. 62 57
17539022 2007
16
Loss of the actin regulator HSPC300 results in clear cell renal cell carcinoma protection in Von Hippel-Lindau patients. 62 57
17311301 2007
17
Analysis of RNA-binding protein IMP3 to predict metastasis and prognosis of renal-cell carcinoma: a retrospective study. 62 57
16814207 2006
18
B7-H4 expression in renal cell carcinoma and tumor vasculature: associations with cancer progression and survival. 62 57
16798883 2006
19
Cloning of a new familial t(3;8) translocation associated with conventional renal cell carcinoma reveals a 5 kb microdeletion and no gene involved in the rearrangement. 62 57
15016767 2004
20
Disruption of a novel gene, DIRC3, and expression of DIRC3-HSPBAP1 fusion transcripts in a case of familial renal cell cancer and t(2;3)(q35;q21). 62 57
12939738 2003
21
Upregulation of the transcription factor TFEB in t(6;11)(p21;q13)-positive renal cell carcinomas due to promoter substitution. 53 57
12837690 2003
22
The allelic loss of chromosome 3p25 with c-myc gain is related to the development of clear-cell renal cell carcinoma. 62 57
12694227 2003
23
Chromosome 3 translocations and the risk to develop renal cell cancer: a Dutch intergroup study. 62 57
12872808 2003
24
Understanding familial and non-familial renal cell cancer. 62 57
12351585 2002
25
Comprehensive mutational analysis of the VHL gene in sporadic renal cell carcinoma: relationship to clinicopathological parameters. 62 5
11921283 2002
26
Characterization of a familial RCC-associated t(2;3)(q33;q21) chromosome translocation. 62 57
11776380 2001
27
The genetic locus NRC-1 within chromosome 3p12 mediates tumor suppression in renal cell carcinoma independently of histological type, tumor microenvironment, and VHL mutation. 62 57
10232606 1999
28
The hereditary renal cell carcinoma 3;8 translocation fuses FHIT to a patched-related gene, TRC8. 62 57
9689122 1998
29
Physical and functional mapping of a tumor suppressor locus for renal cell carcinoma within chromosome 3p12. 62 57
9721855 1998
30
An alternative route for multistep tumorigenesis in a novel case of hereditary renal cell cancer and a t(2;3)(q35;q21) chromosome translocation. 62 57
9585616 1998
31
Two North American families with hereditary papillary renal carcinoma and identical novel mutations in the MET proto-oncogene. 53 5
9563489 1998
32
A familial case of renal cell carcinoma and a t(2;3) chromosome translocation. 62 57
9461085 1998
33
The Heidelberg classification of renal cell tumours. 62 57
9390023 1997
34
Involvement of multiple loci on chromosome 3 in renal cell cancer development. 62 57
9171996 1997
35
Germline and somatic mutations in the tyrosine kinase domain of the MET proto-oncogene in papillary renal carcinomas. 53 5
9140397 1997
36
Renal-cell carcinoma. 62 57
8778606 1996
37
Inhibition of transcription elongation by the VHL tumor suppressor protein. 53 5
7660122 1995
38
A tumor suppressor locus within 3p14-p12 mediates rapid cell death of renal cell carcinoma in vivo. 62 57
8159756 1994
39
Hereditary renal cell carcinoma in the Eker rat: a rodent familial cancer syndrome. 62 57
1433648 1992
40
Allelic losses at chromosome 17p in human renal cell carcinoma are inversely related to allelic losses at chromosome 3p. 62 57
1348014 1992
41
Predisposition to renal cell carcinoma due to alteration of a cancer susceptibility gene. 62 57
1553556 1992
42
Molecular and cellular characterization of human renal cell carcinoma cell lines. 62 57
1345811 1992
43
The region of common allelic losses in sporadic renal cell carcinoma is bordered by the loci D3S2 and THRB. 62 57
1685475 1991
44
Allelic loss at chromosome 3p characterizes clear cell phenotype of renal cell carcinoma. 62 57
1671000 1991
45
Familial renal cell carcinoma: hereditary or coincidental? 62 57
2398557 1990
46
Introduction of normal chromosome 3p modulates the tumorigenicity of a human renal cell carcinoma cell line YCR. 62 57
1969617 1990
47
A 1.5-megabase restriction map surrounding MYC does not include the translocation breakpoint in familial renal cell carcinoma. 62 57
2914707 1989
48
Recurrent genomic rearrangements are not at the fragile sites on chromosomes 3 and 5 in human renal cell carcinomas. 62 57
3417313 1988
49
Genomic defects in nonfamilial renal cell carcinoma. Possible specific chromosome change. 62 57
3395987 1988
50
Direct molecular analysis of a deletion of 3p in tumors from patients with sporadic renal cell carcinoma. 62 57
2835149 1988

Variations for Renal Cell Carcinoma, Nonpapillary

ClinVar genetic disease variations for Renal Cell Carcinoma, Nonpapillary:

5 (show top 50) (show all 1988)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CTNNB1 NM_001904.4(CTNNB1):c.1374A>C (p.Glu458Asp) SNV Other
438755 rs1553631848 GRCh37: 3:41275208-41275208
GRCh38: 3:41233717-41233717
2 LOC107303340, VHL NM_000551.4(VHL):c.530_536del (p.Arg177fs) DEL Pathogenic
694389 rs1575932266 GRCh37: 3:10191534-10191540
GRCh38: 3:10149850-10149856
3 MTOR NM_004958.4(MTOR):c.3026G>A (p.Arg1009Gln) SNV Pathogenic
801436 rs778855567 GRCh37: 1:11288729-11288729
GRCh38: 1:11228672-11228672
4 HNF1B NM_000458.4(HNF1B):c.46del (p.Leu16fs) DEL Pathogenic
12648 GRCh37: 17:36104830-36104830
GRCh38: 17:37744839-37744839
5 PBRM1 NM_018313.5(PBRM1):c.3923_3930del (p.Asp1308fs) DEL Pathogenic
218955 rs864321679 GRCh37: 3:52597380-52597387
GRCh38: 3:52563364-52563371
6 MET NM_000245.4(MET):c.3562G>T (p.Val1188Leu) SNV Pathogenic
Uncertain Significance
13882 rs121913669 GRCh37: 7:116422081-116422081
GRCh38: 7:116782027-116782027
7 MET NM_000245.4(MET):c.3682G>A (p.Asp1228Asn) SNV Pathogenic
13884 rs121913671 GRCh37: 7:116423407-116423407
GRCh38: 7:116783353-116783353
8 MET NM_000245.4(MET):c.3583C>G (p.Leu1195Val) SNV Pathogenic
Uncertain Significance
Uncertain Significance
13886 rs121913673 GRCh37: 7:116422102-116422102
GRCh38: 7:116782048-116782048
9 HNF1A NM_000545.8(HNF1A):c.872dup (p.Gly292fs) DUP Pathogenic
14927 rs587776825 GRCh37: 12:121432117-121432118
GRCh38: 12:120994314-120994315
10 LOC107303340, VHL NM_000551.4(VHL):c.598C>T (p.Arg200Trp) SNV Pathogenic
2232 rs28940298 GRCh37: 3:10191605-10191605
GRCh38: 3:10149921-10149921
11 HNF1B NM_000458.4(HNF1B):c.884G>A (p.Arg295His) SNV Pathogenic
288154 GRCh37: 17:36091747-36091747
GRCh38: 17:37731756-37731756
12 FLCN NM_144997.7(FLCN):c.1429C>T (p.Arg477Ter) SNV Pathogenic
253251 rs879255678 GRCh37: 17:17118502-17118502
GRCh38: 17:17215188-17215188
13 LOC107303340, VHL NM_000551.4(VHL):c.481C>T (p.Arg161Ter) SNV Pathogenic
Likely Pathogenic
2217 rs5030818 GRCh37: 3:10191488-10191488
GRCh38: 3:10149804-10149804
14 MET NM_000245.4(MET):c.3392T>C (p.Met1131Thr) SNV Pathogenic
Pathogenic
13881 rs121913668 GRCh37: 7:116418881-116418881
GRCh38: 7:116778827-116778827
15 MET NM_000245.4(MET):c.3658G>A (p.Val1220Ile) SNV Pathogenic
Likely Pathogenic
13883 rs121913670 GRCh37: 7:116423383-116423383
GRCh38: 7:116783329-116783329
16 MET NM_000245.4(MET):c.3689A>G (p.Tyr1230Cys) SNV Pathogenic
Uncertain Significance
13885 rs121913246 GRCh37: 7:116423414-116423414
GRCh38: 7:116783360-116783360
17 OGG1 NM_002542.6(OGG1):c.137G>A (p.Arg46Gln) SNV Pathogenic
7602 rs104893751 GRCh37: 3:9792107-9792107
GRCh38: 3:9750423-9750423
18 HNF1A NM_000545.8(HNF1A):c.1135C>G (p.Pro379Ala) SNV Pathogenic
431970 rs754729248 GRCh37: 12:121434371-121434371
GRCh38: 12:120996568-120996568
19 HNF1A NM_000545.8(HNF1A):c.1340C>T (p.Pro447Leu) SNV Pathogenic
14928 rs137853236 GRCh37: 12:121435307-121435307
GRCh38: 12:120997504-120997504
20 MET NM_000245.4(MET):c.3274G>A (p.Val1092Ile) SNV Pathogenic
Pathogenic
186141 rs786202724 GRCh37: 7:116417457-116417457
GRCh38: 7:116777403-116777403
21 VHL NM_000551.4(VHL):c.257C>G (p.Pro86Arg) SNV Pathogenic
223170 rs730882034 GRCh37: 3:10183788-10183788
GRCh38: 3:10142104-10142104
22 LOC107303340, VHL NM_000551.4(VHL):c.464-2A>G SNV Pathogenic
223222 rs5030816 GRCh37: 3:10191469-10191469
GRCh38: 3:10149785-10149785
23 FLCN FLCN, 2-BP DEL, 1284TC AND 2-BP INS, 1284AC INDEL Pathogenic
3368 GRCh37:
GRCh38:
24 LOC107303340, VHL NM_000551.4(VHL):c.548C>A (p.Ser183Ter) SNV Pathogenic
Uncertain Significance
2215 rs5030823 GRCh37: 3:10191555-10191555
GRCh38: 3:10149871-10149871
25 ATM, C11orf65 NM_000051.4(ATM):c.8671+2_8671+3insTA INSERT Pathogenic
3037 GRCh37: 11:108218094-108218095
GRCh38: 11:108347367-108347368
26 MET NM_000245.4(MET):c.3281A>G (p.His1094Arg) SNV Pathogenic
Pathogenic
13887 rs121913243 GRCh37: 7:116417464-116417464
GRCh38: 7:116777410-116777410
27 HNF1A NM_000545.8(HNF1A):c.92G>A (p.Gly31Asp) SNV Pathogenic
Pathogenic
Uncertain Significance
14948 rs137853247 GRCh37: 12:121416663-121416663
GRCh38: 12:120978860-120978860
28 HNF1A NM_000545.8(HNF1A):c.814C>T (p.Arg272Cys) SNV Pathogenic
447503 rs1555212014 GRCh37: 12:121432067-121432067
GRCh38: 12:120994264-120994264
29 LOC107303340, VHL NM_000551.4(VHL):c.499C>T (p.Arg167Trp) SNV Pathogenic
Pathogenic
Likely Pathogenic
2218 rs5030820 GRCh37: 3:10191506-10191506
GRCh38: 3:10149822-10149822
30 ATM, C11orf65 NM_000051.4(ATM):c.9019G>T (p.Glu3007Ter) SNV Pathogenic
233403 rs876660382 GRCh37: 11:108236083-108236083
GRCh38: 11:108365356-108365356
31 BAP1 NM_004656.4(BAP1):c.535C>T (p.Arg179Trp) SNV Likely Pathogenic
861467 rs910211860 GRCh37: 3:52441235-52441235
GRCh38: 3:52407219-52407219
32 TP53 NM_000546.6(TP53):c.844C>T (p.Arg282Trp) SNV Likely Pathogenic
Likely Pathogenic
12364 rs28934574 GRCh37: 17:7577094-7577094
GRCh38: 17:7673776-7673776
33 MTOR NM_004958.4(MTOR):c.6644C>T (p.Ser2215Phe) SNV Likely Pathogenic
Likely Pathogenic
156703 rs587777894 GRCh37: 1:11184573-11184573
GRCh38: 1:11124516-11124516
34 PIK3CA NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys) SNV Likely Pathogenic
Likely Pathogenic
13655 rs104886003 GRCh37: 3:178936091-178936091
GRCh38: 3:179218303-179218303
35 PIK3CA NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) SNV Likely Pathogenic
Likely Pathogenic
13653 rs121913279 GRCh37: 3:178952085-178952085
GRCh38: 3:179234297-179234297
36 MTOR NM_004958.4(MTOR):c.4447T>C (p.Cys1483Arg) SNV Likely Pathogenic
374796 rs1057519914 GRCh37: 1:11217231-11217231
GRCh38: 1:11157174-11157174
37 MTOR NM_004958.4(MTOR):c.4448G>A (p.Cys1483Tyr) SNV Likely Pathogenic
Likely Pathogenic
376453 rs786205165 GRCh37: 1:11217230-11217230
GRCh38: 1:11157173-11157173
38 NRAS NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) SNV Likely Pathogenic
73058 rs121913254 GRCh37: 1:115256530-115256530
GRCh38: 1:114713909-114713909
39 TP53 NM_000546.6(TP53):c.638G>A (p.Arg213Gln) SNV Likely Pathogenic
Likely Pathogenic
Likely Pathogenic
135359 rs587778720 GRCh37: 17:7578211-7578211
GRCh38: 17:7674893-7674893
40 PTEN NM_000314.8(PTEN):c.388C>G (p.Arg130Gly) SNV Likely Pathogenic
375958 rs121909224 GRCh37: 10:89692904-89692904
GRCh38: 10:87933147-87933147
41 TP53 NM_000546.6(TP53):c.641A>G (p.His214Arg) SNV Likely Pathogenic
Likely Pathogenic
376615 rs1057519992 GRCh37: 17:7578208-7578208
GRCh38: 17:7674890-7674890
42 TP53 NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) SNV Likely Pathogenic
Likely Pathogenic
127819 rs121912666 GRCh37: 17:7578190-7578190
GRCh38: 17:7674872-7674872
43 TP53 NM_000546.6(TP53):c.587G>C (p.Arg196Pro) SNV Likely Pathogenic
231165 rs483352697 GRCh37: 17:7578262-7578262
GRCh38: 17:7674944-7674944
44 TP53 NM_000546.6(TP53):c.845G>C (p.Arg282Pro) SNV Likely Pathogenic
Likely Pathogenic
376659 rs730882008 GRCh37: 17:7577093-7577093
GRCh38: 17:7673775-7673775
45 TP53 NM_000546.6(TP53):c.823T>C (p.Cys275Arg) SNV Likely Pathogenic
376584 rs1057519983 GRCh37: 17:7577115-7577115
GRCh38: 17:7673797-7673797
46 TP53 NM_000546.6(TP53):c.613T>C (p.Tyr205His) SNV Likely Pathogenic
Likely Pathogenic
Likely Pathogenic
376685 rs1057520008 GRCh37: 17:7578236-7578236
GRCh38: 17:7674918-7674918
47 TP53 NM_000546.6(TP53):c.824G>A (p.Cys275Tyr) SNV Likely Pathogenic
Likely Pathogenic
Likely Pathogenic
215997 rs863224451 GRCh37: 17:7577114-7577114
GRCh38: 17:7673796-7673796
48 TP53 NM_000546.6(TP53):c.374C>T (p.Thr125Met) SNV Likely Pathogenic
Likely Pathogenic
Likely Pathogenic
183748 rs786201057 GRCh37: 17:7579313-7579313
GRCh38: 17:7675995-7675995
49 TP53 NM_000546.6(TP53):c.422G>T (p.Cys141Phe) SNV Likely Pathogenic
Likely Pathogenic
376568 rs587781288 GRCh37: 17:7578508-7578508
GRCh38: 17:7675190-7675190
50 TP53 NM_000546.6(TP53):c.721T>C (p.Ser241Pro) SNV Likely Pathogenic
Likely Pathogenic
376664 rs1057520002 GRCh37: 17:7577560-7577560
GRCh38: 17:7674242-7674242

UniProtKB/Swiss-Prot genetic disease variations for Renal Cell Carcinoma, Nonpapillary:

73
# Symbol AA change Variation ID SNP ID
1 FLCN p.Arg239Cys VAR_066026 rs78683075
2 SETD2 p.Asn1733Asp VAR_069812
3 SETD2 p.Ser1769Pro VAR_069813
4 VHL p.Leu163Pro VAR_034998 rs28940297

Cosmic variations for Renal Cell Carcinoma, Nonpapillary:

8 (show top 50) (show all 7535)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM85360217 UMPS kidney,NS,carcinoma,renal cell c.528G>A p.L176= 3:124737785-124737785 63
2 COSM93517001 TRIO kidney,NS,carcinoma,renal cell c.1505A>G p.N502S 5:14508136-14508136 63
3 COSM143919608 TRIO kidney,NS,carcinoma,renal cell c.706-1273A>G p.? 5:14508136-14508136 63
4 COSM89062698 TRIO kidney,NS,carcinoma,renal cell c.9008A>G p.N3003S 5:14508136-14508136 63
5 COSM90865192 RNF144A kidney,NS,carcinoma,renal cell c.410C>T p.A137V 2:7020581-7020581 63
6 COSM94389604 RGS7 kidney,NS,carcinoma,renal cell c.169T>C p.F57L 1:241098672-241098672 63
7 COSM94442225 RGS7 kidney,NS,carcinoma,renal cell c.169T>C p.F57L 1:241098672-241098672 63
8 COSM94492333 RGS7 kidney,NS,carcinoma,renal cell c.169T>C p.F57L 1:241098672-241098672 63
9 COSM92824042 RGS7 kidney,NS,carcinoma,renal cell c.169T>C p.F57L 1:241098672-241098672 63
10 COSM94232725 RABGAP1 kidney,NS,carcinoma,renal cell c.1749T>A p.H583Q 9:123020414-123020414 63
11 COSM106795558 PTPN22 kidney,NS,carcinoma,renal cell c.209G>C p.R70P 1:113859066-113859066 63
12 COSM130825760 PTPN22 kidney,NS,carcinoma,renal cell c.209G>C p.R70P 1:113859066-113859066 63
13 COSM94057597 PTPN22 kidney,NS,carcinoma,renal cell c.209G>C p.R70P 1:113859066-113859066 63
14 COSM126664114 PTPN22 kidney,NS,carcinoma,renal cell c.209G>C p.R70P 1:113859066-113859066 63
15 COSM131800227 PTPN22 kidney,NS,carcinoma,renal cell c.209G>C p.R70P 1:113859066-113859066 63
16 COSM114430588 PTPN22 kidney,NS,carcinoma,renal cell c.209G>C p.R70P 1:113859066-113859066 63
17 COSM100863866 KMT2A kidney,NS,carcinoma,renal cell c.5711C>T p.A1904V 11:118497991-118497991 63
18 COSM129143197 KMT2A kidney,NS,carcinoma,renal cell c.5720C>T p.A1907V 11:118497991-118497991 63
19 COSM144159091 ITPR3 kidney,NS,carcinoma,renal cell c.4574G>T p.C1525F 6:33682621-33682621 63
20 COSM96915510 ITPR3 kidney,NS,carcinoma,renal cell c.4574G>T p.C1525F 6:33682621-33682621 63
21 COSM86472399 H2BC1 kidney,NS,carcinoma,renal cell c.239C>A p.S80* 6:25727147-25727147 63
22 COSM146087884 DOCK1 kidney,NS,carcinoma,renal cell c.1369G>T p.D457Y 10:127023241-127023241 63
23 COSM88845534 DOCK1 kidney,NS,carcinoma,renal cell c.1306G>T p.D436Y 10:127023241-127023241 63
24 COSM102230151 DDX19B kidney,NS,carcinoma,renal cell c.216G>A p.V72= 16:70325624-70325624 63
25 COSM137305195 DDX19B kidney,NS,carcinoma,renal cell c.558G>A p.V186= 16:70325624-70325624 63
26 COSM137613380 DDX19B kidney,NS,carcinoma,renal cell c.216G>A p.V72= 16:70325624-70325624 63
27 COSM136951592 DDX19B kidney,NS,carcinoma,renal cell c.216G>A p.V72= 16:70325624-70325624 63
28 COSM88298617 DDX19B kidney,NS,carcinoma,renal cell c.543G>A p.V181= 16:70325624-70325624 63
29 COSM92903161 DDX19B kidney,NS,carcinoma,renal cell c.450G>A p.V150= 16:70325624-70325624 63
30 COSM111962535 DDX19B kidney,NS,carcinoma,renal cell c.465G>A p.V155= 16:70325624-70325624 63
31 COSM125364846 COPS4 kidney,NS,carcinoma,renal cell c.385G>C p.G129R 4:83049959-83049959 63
32 COSM88086191 COPS4 kidney,NS,carcinoma,renal cell c.385G>C p.G129R 4:83049959-83049959 63
33 COSM120703070 COPS4 kidney,NS,carcinoma,renal cell c.385G>C p.G129R 4:83049959-83049959 63
34 COSM122317683 COPS4 kidney,NS,carcinoma,renal cell c.385G>C p.G129R 4:83049959-83049959 63
35 COSM95279694 CDC5L kidney,NS,carcinoma,renal cell c.1196G>A p.R399Q 6:44419552-44419552 63
36 COSM129930398 ARHGAP20 kidney,NS,carcinoma,renal cell c.1277A>G p.D426G 11:110586276-110586276 63
37 COSM128048829 ARHGAP20 kidney,NS,carcinoma,renal cell c.1247A>G p.D416G 11:110586276-110586276 63
38 COSM130426538 ARHGAP20 kidney,NS,carcinoma,renal cell c.-17A>G p.? 11:110586276-110586276 63
39 COSM127507491 ARHGAP20 kidney,NS,carcinoma,renal cell c.1286A>G p.D429G 11:110586276-110586276 63
40 COSM85547904 ARHGAP20 kidney,NS,carcinoma,renal cell c.1355A>G p.D452G 11:110586276-110586276 63
41 COSM128420528 ARHGAP20 kidney,NS,carcinoma,renal cell c.1247A>G p.D416G 11:110586276-110586276 63
42 COSM111167644 kidney,NS,carcinoma,renal cell c.160+10669G>A p.? 16:70325624-70325624 63
43 COSM143616890 ZNF804A kidney,NS,carcinoma,clear cell renal cell carcinoma c.2108A>C p.Q703P 2:184937759-184937759 42
44 COSM88579140 ZNF804A kidney,NS,carcinoma,clear cell renal cell carcinoma c.2363A>C p.Q788P 2:184937759-184937759 42
45 COSM88566796 ZNF804A kidney,NS,carcinoma,clear cell renal cell carcinoma c.121G>C p.E41Q 2:184866378-184866378 42
46 COSM143612455 ZNF804A kidney,NS,carcinoma,clear cell renal cell carcinoma c.-135G>C p.? 2:184866378-184866378 42
47 COSM100952565 ZNF800 kidney,NS,carcinoma,clear cell renal cell carcinoma c.719A>G p.N240S 7:127374617-127374617 42
48 COSM100946000 ZNF800 kidney,NS,carcinoma,clear cell renal cell carcinoma c.719A>G p.N240S 7:127374617-127374617 42
49 COSM85796182 ZNF800 kidney,NS,carcinoma,clear cell renal cell carcinoma c.719A>G p.N240S 7:127374617-127374617 42
50 COSM144685741 ZNF800 kidney,NS,carcinoma,clear cell renal cell carcinoma c.719A>G p.N240S 7:127374617-127374617 42

Copy number variations for Renal Cell Carcinoma, Nonpapillary from CNVD:

6 (show top 50) (show all 1300)
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 14830 1 1104523 1105523 Gain Renal cell carcinoma
2 16766 1 13658511 13659511 Gain Renal cell carcinoma
3 16770 1 13703176 13704176 Loss Renal cell carcinoma
4 16773 1 13722829 13723829 Gain Renal cell carcinoma
5 19216 1 14925199 15393109 Loss Renal cell carcinoma
6 24428 1 180300000 185800000 Copy number Renal cell carcinoma
7 26325 1 199103044 199104044 Gain Renal cell carcinoma
8 27335 1 207179162 207180162 Gain Renal cell carcinoma
9 27861 1 214500000 224100000 Gain Renal cell carcinoma
10 30088 1 24000000 26000000 Loss Renal cell carcinoma
11 31042 1 24862824 24867531 Loss RCAN3 Renal cell carcinoma
12 31527 1 28000000 30200000 Loss Renal cell carcinoma
13 33893 1 5000000 7000000 Loss Renal cell carcinoma
14 42189 10 3000000 17300000 Copy number Renal cell carcinoma
15 42932 10 42300000 52900000 Copy number Renal cell carcinoma
16 49432 11 106916419 134173875 Loss Renal cell carcinoma
17 49705 11 110400000 121200000 Copy number Renal cell carcinoma
18 51840 11 13182721 13183721 Gain Renal cell carcinoma
19 51843 11 13184856 13185856 Loss Renal cell carcinoma
20 52861 11 21000000 57000000 Gain Renal cell carcinoma
21 53056 11 23642584 23643584 Gain Renal cell carcinoma
22 53595 11 31000000 43500000 Copy number Renal cell carcinoma
23 53953 11 35317771 35318771 Gain Renal cell carcinoma
24 60490 11 87000000 107000000 Gain Renal cell carcinoma
25 64438 12 12800000 14800000 Copy number Renal cell carcinoma
26 67031 12 35000000 69000000 Gain Renal cell carcinoma
27 67043 12 35400000 132349534 Gain Renal cell carcinoma
28 69398 12 54900000 58100000 Copy number Renal cell carcinoma
29 72532 12 82000000 100000000 Gain Renal cell carcinoma
30 75379 13 19500000 23300000 Loss Renal cell carcinoma
31 75593 13 21548578 21635655 Copy number Renal cell carcinoma
32 82801 14 15600000 106368585 Copy number Renal cell carcinoma
33 82818 14 15600000 106368585 Loss Renal cell carcinoma
34 83187 14 19387587 106241517 Loss Renal cell carcinoma
35 85229 14 41000000 48000000 Gain Renal cell carcinoma
36 87551 14 74550219 74587988 Loss MLH3 Renal cell carcinoma
37 88249 14 88692268 89155247 Loss FOXN3 Renal cell carcinoma
38 88312 14 89800000 91900000 Copy number Renal cell carcinoma
39 89170 15 100153615 100154615 Gain Renal cell carcinoma
40 90158 15 20233523 20234523 Gain Renal cell carcinoma
41 90187 15 20359182 20360182 Gain Renal cell carcinoma
42 90188 15 20359229 20360229 Gain Renal cell carcinoma
43 90209 15 20439260 20440260 Loss Renal cell carcinoma
44 90210 15 20442152 20442452 Loss Renal cell carcinoma
45 90214 15 20449913 20450913 Gain Renal cell carcinoma
46 90215 15 20450115 20451115 Loss Renal cell carcinoma
47 90218 15 20535877 20536877 Loss Renal cell carcinoma
48 90224 15 20611271 20612271 Loss Renal cell carcinoma
49 90229 15 20643792 20644792 Loss Renal cell carcinoma
50 90232 15 20666179 20666479 Loss Renal cell carcinoma

Expression for Renal Cell Carcinoma, Nonpapillary

LifeMap Discovery
Genes differentially expressed in tissues of Renal Cell Carcinoma, Nonpapillary patients vs. healthy controls: 35 (show top 50) (show all 277)
# Gene Description Tissue Up/Dn Fold Change (log2) P value
1 SLC12A1 solute carrier family 12 member 1 Kidney - 9.35 0.000
2 CALB1 calbindin 1 Kidney - 8.95 0.000
3 FXYD4 FXYD domain containing ion transport regulator 4 Kidney - 8.29 0.000
4 CLDN8 claudin 8 Kidney - 8.20 0.000
5 KCNJ1 potassium inwardly rectifying channel subfamily J member 1 Kidney - 8.20 0.000
6 NPHS2 NPHS2 stomatin family member, podocin Kidney - 8.18 0.000
7 MUC15 mucin 15, cell surface associated Kidney - 7.96 0.000
8 SCNN1G sodium channel epithelial 1 subunit gamma Kidney - 7.91 0.000
9 HPD 4-hydroxyphenylpyruvate dioxygenase Kidney - 7.78 0.000
10 FABP1 fatty acid binding protein 1 Kidney - 7.74 0.000
11 DNASE1 deoxyribonuclease 1 Kidney - 7.59 0.000
12 SLC7A13 solute carrier family 7 member 13 Kidney - 7.29 0.000
13 ANGPTL4 angiopoietin like 4 Kidney + 7.25 0.000
14 TNFAIP6 TNF alpha induced protein 6 Kidney + 7.16 0.000
15 ATP6V0A4 ATPase H+ transporting V0 subunit a4 Kidney - 7.13 0.000
16 PCP4 Purkinje cell protein 4 Kidney - 7.13 0.000
17 KNG1 kininogen 1 Kidney - 7.12 0.000
18 TYRP1 tyrosinase related protein 1 Kidney - 7.10 0.000
19 FGF9 fibroblast growth factor 9 Kidney - 6.99 0.000
20 EGF epidermal growth factor Kidney - 6.92 0.000
21 RALYL RALY RNA binding protein like Kidney - 6.81 0.000
22 PVALB parvalbumin Kidney - 6.73 0.000
23 KCNJ10 potassium inwardly rectifying channel subfamily J member 10 Kidney - 6.69 0.000
24 TMEM213 transmembrane protein 213 Kidney - 6.64 0.000
25 SLC22A8 solute carrier family 22 member 8 Kidney - 6.58 0.000
26 IRX2 iroquois homeobox 2 Kidney - 6.56 0.000
27 SLC26A7 solute carrier family 26 member 7 Kidney - 6.56 0.000
28 SLC4A1 solute carrier family 4 member 1 (Diego blood group) Kidney - 6.53 0.000
29 GPC5 glypican 5 Kidney - 6.53 0.000
30 RHCG Rh family C glycoprotein Kidney - 6.52 0.000
31 SOST sclerostin Kidney - 6.51 0.000
32 SFRP1 secreted frizzled related protein 1 Kidney - 6.49 0.000
33 HEPACAM2 HEPACAM family member 2 Kidney - 6.45 0.000
34 NELL1 neural EGFL like 1 Kidney - 6.38 0.000
35 SERPINA5 serpin family A member 5 Kidney - 6.34 0.000
36 RAB25 RAB25, member RAS oncogene family Kidney - 6.32 0.000
37 TMPRSS2 transmembrane serine protease 2 Kidney - 6.31 0.000
38 TMEM52B transmembrane protein 52B Kidney - 6.28 0.000
39 ERBB4 erb-b2 receptor tyrosine kinase 4 Kidney - 6.26 0.000
40 SOSTDC1 sclerostin domain containing 1 Kidney - 6.25 0.000
41 SH3GL2 SH3 domain containing GRB2 like 2, endophilin A1 Kidney - 6.16 0.000
42 ALDOB aldolase, fructose-bisphosphate B Kidney - 6.13 0.003
43 APOC1 apolipoprotein C1 Kidney + 6.11 0.000
44 UMOD uromodulin Kidney - 6.07 0.000
45 NPTX2 neuronal pentraxin 2 Kidney + 6.05 0.000
46 MFSD4A-AS1 MFSD4A antisense RNA 1 Kidney - 6.02 0.000
47 ESRRB estrogen related receptor beta Kidney - 5.99 0.000
48 SLC13A3 solute carrier family 13 member 3 Kidney - 5.96 0.001
49 TSPAN8 tetraspanin 8 Kidney - 5.96 0.000
50 WNK4 WNK lysine deficient protein kinase 4 Kidney - 5.94 0.000
Search GEO for disease gene expression data for Renal Cell Carcinoma, Nonpapillary.

Pathways for Renal Cell Carcinoma, Nonpapillary

Pathways related to Renal Cell Carcinoma, Nonpapillary according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.85 VHL SETD2 PBRM1 MTOR

GO Terms for Renal Cell Carcinoma, Nonpapillary

Biological processes related to Renal Cell Carcinoma, Nonpapillary according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of autophagy GO:0010507 9.8 VHL MTOR MET
2 cellular response to leucine GO:0071233 9.58 MTOR HNF1A
3 regulation of cellular response to stress GO:0080135 9.43 MTOR ATM
4 pancreas development GO:0031016 9.43 MET HNF1B HNF1A
5 positive regulation of response to stimulus GO:0048584 9.37 MTOR ATM
6 response to stress GO:0006950 9.26 MTOR ATM
7 regulation of nucleobase-containing compound metabolic process GO:0019219 9.16 MTOR ATM
8 regulation of pronephros size GO:0035565 8.8 HNF1B HNF1A

Sources for Renal Cell Carcinoma, Nonpapillary

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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