RCCP1
MCID: RNL065
MIFTS: 73

Renal Cell Carcinoma, Papillary, 1 (RCCP1)

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

Aliases & Classifications for Renal Cell Carcinoma, Papillary, 1

MalaCards integrated aliases for Renal Cell Carcinoma, Papillary, 1:

Name: Renal Cell Carcinoma, Papillary, 1 56 29 6
Papillary Renal Cell Carcinoma 12 52 58 29 6 15 17 71
Papillary Renal Cell Carcinoma, Sporadic 6 43 71
Papillary Renal Cell Adenocarcinoma 52 58
Renal Cell Carcinoma, Papillary 56 13
Rccp 52 73
Renal Cell Carcinoma, Papillary, 1, Familial and Somatic 56
Papillary Renal Cell Carcinoma, Bilateral - 52
Papillary Renal Cell Carcinoma, Familial - 52
Papillary Renal Cell Carcinoma, Multiple - 52
Papillary Renal Cell Carcinoma, Sporadic - 52
Hereditary Papillary Renal Cell Carcinoma 58
Carcinoma, Renal Cell, Papillary, Type 1 39
Sporadic Papillary Renal Cell Carcinoma 12
Papillary Renal Carcinoma, Malignant - 52
Type 1 Papillary Renal Cell Carcinoma 71
Hereditary Papillary Renal Carcinoma 71
Chromophilic Renal Cell Carcinoma 73
Chromophil Carcinoma of Kidney 12
Renal Cell Carcinoma Papillary 73
Papillary Kidney Carcinoma 12
Renal Cell Carcinoma 71
Renal Adenocarcinoma 52
Rccp1 56
Hprcc 58
Prcc 73

Characteristics:

Orphanet epidemiological data:

58
hereditary papillary renal cell carcinoma
Inheritance: Autosomal dominant; Age of onset: Adult;

HPO:

31
renal cell carcinoma, papillary, 1:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:

Orphanet: 58  
Rare renal diseases


External Ids:

Disease Ontology 12 DOID:4465
OMIM 56 605074
NCIt 49 C27890 C6975
SNOMED-CT 67 733607005 733608000
MESH via Orphanet 44 C538614
ICD10 via Orphanet 33 C64
UMLS via Orphanet 72 C0879257 C1306837 C2931899
SNOMED-CT via HPO 68 263681008
UMLS 71 C0007134 C0879257 C1306837 more

Summaries for Renal Cell Carcinoma, Papillary, 1

OMIM : 56 Hereditary papillary renal cell carcinoma is characterized by the development of multiple, bilateral papillary renal tumors (Zbar et al., 1995). The transmission pattern is consistent with autosomal dominant inheritance with incomplete penetrance. Papillary renal cell carcinoma is histologically and genetically distinct from 2 other forms of inherited renal carcinoma, von Hippel Lindau disease (193300), caused by mutation in the VHL gene (608537) on chromosome 3, and a form associated with the chromosome translocation t(3;8), as described by Cohen et al. (1979). Bodmer et al. (2002) reviewed the molecular genetics of familial and nonfamilial cases of renal cell carcinoma, including the roles of VHL, MET, and translocations involving chromosomes 1, 3, and X. For background information and a discussion of genetic heterogeneity of nonpapillary renal cell carcinoma, see RCC (144700). See also a hereditary syndrome of predisposition to uterine leiomyomas and papillary renal cell carcinoma (HLRCC; 150800) caused by germline mutation in the FH gene (136850). (605074)

MalaCards based summary : Renal Cell Carcinoma, Papillary, 1, also known as papillary renal cell carcinoma, is related to clear cell papillary renal cell carcinoma and birt-hogg-dube syndrome, and has symptoms including flank pain An important gene associated with Renal Cell Carcinoma, Papillary, 1 is MET (MET Proto-Oncogene, Receptor Tyrosine Kinase), and among its related pathways/superpathways are Innate Immune System and ERK Signaling. The drugs Dopamine and Nicotine have been mentioned in the context of this disorder. Affiliated tissues include kidney, lung and endothelial, and related phenotypes are papillary renal cell carcinoma and Decreased viability

Disease Ontology : 12 A renal cell carcinoma that is characterized by the development of multiple, bilateral papillary renal tumors.

NIH Rare Diseases : 52 Papillary renal cell carcinoma (PRCC) is a type of cancer that occurs in the kidneys. It accounts for about 10-15% of all renal cell carcinomas. R enal cell carcinoma s are a type of kidney cancer that develop in the lining of very small tubes (tubules) in the kidney. The term "papillary" describes the finger-like projections that can be found in most of the tumors . PRCC can be divided into two types: type 1, which is more common and usually grows more slowly and type 2, which are usually more aggressive . Though the exact cause of papillary renal cell carcinoma is unknown, smoking, obesity, and genetic predisposition conditions (such as hereditary leiomyomatosis and renal cell cancer ) may contribute to the development of this type of cancer. Treatment often begins with surgery to remove as much of the cancer as possible, and may be followed by radiation therapy , chemotherapy , biological therapy , or targeted therapy .

UniProtKB/Swiss-Prot : 73 Renal cell carcinoma papillary: A subtype of renal cell carcinoma tending to show a tubulo-papillary architecture formed by numerous, irregular, finger-like projections of connective tissue. Renal cell carcinoma is a heterogeneous group of sporadic or hereditary carcinoma derived from cells of the proximal renal tubular epithelium.

Related Diseases for Renal Cell Carcinoma, Papillary, 1

Diseases related to Renal Cell Carcinoma, Papillary, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 441)
# Related Disease Score Top Affiliating Genes
1 clear cell papillary renal cell carcinoma 35.0 VHL MITF
2 birt-hogg-dube syndrome 33.0 PTEN PRCC MTOR CTNNB1
3 alveolar soft part sarcoma 33.0 PRCC MTOR MET CTNNB1
4 kidney benign neoplasm 32.9 RHEB PRCC MTOR
5 renal cell carcinoma, nonpapillary 32.5 VHL TP53 SDHB PTEN PRCC PIK3CA
6 gastrointestinal stromal tumor 31.7 TP53 SDHB PTEN FGFR3 ERBB2 BRAF
7 clear cell renal cell carcinoma 31.7 VHL TP53 SDHB PTEN MTOR MET
8 papillary adenoma 31.7 TP53 PRCC HRAS
9 leiomyomatosis 31.6 VHL SDHB NFE2L2
10 adenocarcinoma 31.6 TP53 PTEN PIK3CA MET HRAS FGFR3
11 transitional cell carcinoma 31.6 TP53 PTEN PIK3CA HRAS FGFR3 ERBB2
12 thyroid carcinoma 31.4 PTEN PIK3CA HRAS BRAF
13 colon adenocarcinoma 31.4 TP53 PTEN PIK3CA NRAS ERBB2 CTNNB1
14 lynch syndrome 31.4 TP53 PTEN PIK3CA HRAS ERBB2 CTNNB1
15 neuroendocrine tumor 31.4 VHL SDHB MTOR HRAS
16 kidney cancer 31.3 VHL TP53 SDHB PTEN PIK3CA NFE2L2
17 pheochromocytoma 31.3 VHL SDHB MITF HRAS ERBB2
18 cowden syndrome 1 31.2 TP53 SDHB RHEB PTEN PIK3CA MTOR
19 tuberous sclerosis 31.2 VHL TP53 RHEB PTEN PIK3CA MTOR
20 lung cancer susceptibility 3 31.2 TP53 PTEN PIK3CA NRAS NFE2L2 MTOR
21 cholangiocarcinoma 31.2 TP53 PIK3CA MTOR MET ERBB2 CTNNB1
22 adenoid cystic carcinoma 31.2 TP53 PTEN PIK3CA MTOR HRAS ERBB2
23 rectum adenocarcinoma 31.2 TP53 PIK3CA HRAS ERBB2 CTNNB1
24 adenoma 31.2 VHL TP53 PIK3CA CTNNB1 BRAF
25 familial renal papillary carcinoma 31.2 SDHB PRCC MET ELOC
26 hemangioma 31.2 VHL TP53 PTEN MTOR CTNNB1
27 colorectal adenocarcinoma 31.2 TP53 PTEN HRAS ERBB2 CTNNB1 BRAF
28 testicular germ cell tumor 31.2 TP53 PTEN HRAS FGFR3
29 von hippel-lindau syndrome 31.2 VHL SDHB MET ELOC
30 prostate cancer 31.2 TP53 PTEN PIK3CA NFE2L2 MTOR MET
31 kidney angiomyolipoma 31.1 RHEB PRCC MTOR
32 liposarcoma 31.1 TP53 PTEN PIK3CA CTNNB1
33 intrahepatic cholangiocarcinoma 31.1 TP53 PTEN ERBB2 CTNNB1
34 teratoma 31.1 TP53 PTEN FGFR3 CTNNB1
35 lipomatosis 31.1 SDHB PTEN PIK3CA
36 mature teratoma 31.1 TP53 ERBB2 BRAF
37 in situ carcinoma 31.1 TP53 PTEN PIK3CA HRAS ERBB2 CTNNB1
38 tuberous sclerosis 1 31.1 RHEB PTEN MTOR
39 lymphoma 31.1 TP53 PIK3CA NRAS MET BRAF ATM
40 papillary adenocarcinoma 31.1 TP53 HRAS ERBB2
41 neuroblastoma 30.9 TP53 SDHB PTEN PIK3CA NRAS NFE2L2
42 childhood kidney cell carcinoma 30.9 PRCC MITF
43 myeloma, multiple 30.9 TP53 PTEN NRAS MTOR MET HRAS
44 adrenocortical carcinoma, hereditary 30.9 TP53 PIK3CA NRAS CTNNB1 BRAF
45 leukemia 30.8 TP53 NRAS HRAS ERBB2 BRAF ATM
46 thymoma 30.8 TP53 PIK3CA MTOR HRAS CTNNB1
47 meningioma, familial 30.8 TP53 PTEN PIK3CA ERBB2 CTNNB1
48 hepatocellular carcinoma 30.8 TP53 PTEN PIK3CA NRAS NFE2L2 MTOR
49 exanthem 30.7 MTOR HRAS ERBB2
50 metanephric adenoma 11.7

Graphical network of the top 20 diseases related to Renal Cell Carcinoma, Papillary, 1:



Diseases related to Renal Cell Carcinoma, Papillary, 1

Symptoms & Phenotypes for Renal Cell Carcinoma, Papillary, 1

Human phenotypes related to Renal Cell Carcinoma, Papillary, 1:

31
# Description HPO Frequency HPO Source Accession
1 papillary renal cell carcinoma 31 HP:0006766

Clinical features from OMIM:

605074

UMLS symptoms related to Renal Cell Carcinoma, Papillary, 1:


flank pain

GenomeRNAi Phenotypes related to Renal Cell Carcinoma, Papillary, 1 according to GeneCards Suite gene sharing:

26 (show top 50) (show all 69)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 10.91 BRAF MTOR PIK3CA HRAS
2 Decreased viability GR00055-A-2 10.91 BRAF MTOR PIK3CA HRAS
3 Decreased viability GR00221-A-1 10.91 MTOR PIK3CA HRAS FGFR3 NRAS RHEB
4 Decreased viability GR00221-A-2 10.91 PIK3CA HRAS FGFR3 VHL
5 Decreased viability GR00221-A-3 10.91 ATM ERBB2 HRAS FGFR3 NRAS
6 Decreased viability GR00221-A-4 10.91 ATM BRAF ERBB2 MTOR PIK3CA
7 Decreased viability GR00249-S 10.91 BRAF FGFR3 VHL
8 Decreased viability GR00301-A 10.91 BRAF VHL
9 Decreased viability GR00342-S-1 10.91 MTOR
10 Decreased viability GR00342-S-2 10.91 MTOR
11 Decreased viability GR00381-A-1 10.91 BRAF
12 Decreased viability GR00386-A-1 10.91 RHEB
13 Decreased viability GR00402-S-2 10.91 PIK3CA
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-11 10.51 MTOR RHEB
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 10.51 PIK3CA
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-152 10.51 PTEN
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-157 10.51 PIK3CA
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-16 10.51 ATM MTOR PIK3CA RHEB
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-166 10.51 PIK3CA PRCC
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-169 10.51 PRCC
21 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 10.51 MTOR RHEB
22 Decreased shRNA abundance (Z-score < -2) GR00366-A-177 10.51 PIK3CA
23 Decreased shRNA abundance (Z-score < -2) GR00366-A-190 10.51 PIK3CA
24 Decreased shRNA abundance (Z-score < -2) GR00366-A-211 10.51 PRCC
25 Decreased shRNA abundance (Z-score < -2) GR00366-A-214 10.51 ATM
26 Decreased shRNA abundance (Z-score < -2) GR00366-A-215 10.51 ATM
27 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 10.51 PIK3CA RHEB
28 Decreased shRNA abundance (Z-score < -2) GR00366-A-42 10.51 MTOR PIK3CA RHEB
29 Decreased shRNA abundance (Z-score < -2) GR00366-A-49 10.51 PIK3CA
30 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 10.51 MTOR PIK3CA
31 Decreased shRNA abundance (Z-score < -2) GR00366-A-57 10.51 RHEB
32 Decreased shRNA abundance (Z-score < -2) GR00366-A-66 10.51 RHEB
33 Decreased shRNA abundance (Z-score < -2) GR00366-A-73 10.51 MTOR
34 Decreased shRNA abundance (Z-score < -2) GR00366-A-81 10.51 ATM
35 Increased shRNA abundance (Z-score > 2) GR00366-A-10 10.26 FGFR3 MET
36 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.26 RHEB
37 Increased shRNA abundance (Z-score > 2) GR00366-A-107 10.26 MET
38 Increased shRNA abundance (Z-score > 2) GR00366-A-114 10.26 FGFR3
39 Increased shRNA abundance (Z-score > 2) GR00366-A-119 10.26 MET
40 Increased shRNA abundance (Z-score > 2) GR00366-A-121 10.26 FGFR3
41 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10.26 PTEN
42 Increased shRNA abundance (Z-score > 2) GR00366-A-16 10.26 PTEN
43 Increased shRNA abundance (Z-score > 2) GR00366-A-161 10.26 ERBB2
44 Increased shRNA abundance (Z-score > 2) GR00366-A-168 10.26 ERBB2 PTEN
45 Increased shRNA abundance (Z-score > 2) GR00366-A-185 10.26 MET
46 Increased shRNA abundance (Z-score > 2) GR00366-A-191 10.26 MET
47 Increased shRNA abundance (Z-score > 2) GR00366-A-201 10.26 MET
48 Increased shRNA abundance (Z-score > 2) GR00366-A-207 10.26 ERBB2
49 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.26 PTEN
50 Increased shRNA abundance (Z-score > 2) GR00366-A-3 10.26 NRAS

MGI Mouse Phenotypes related to Renal Cell Carcinoma, Papillary, 1:

45 (show all 27)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.52 ATM BRAF CTNNB1 ERBB2 FGFR3 HRAS
2 cellular MP:0005384 10.49 ATM BRAF CTNNB1 ERBB2 FGFR3 MET
3 growth/size/body region MP:0005378 10.49 ATM BRAF CTNNB1 ERBB2 FGFR3 HRAS
4 behavior/neurological MP:0005386 10.47 ATM BRAF CTNNB1 ERBB2 FGFR3 HRAS
5 cardiovascular system MP:0005385 10.47 ATM BRAF CTNNB1 ERBB2 HRAS MET
6 mortality/aging MP:0010768 10.46 ATM BRAF CTNNB1 ERBB2 FGFR3 HRAS
7 embryo MP:0005380 10.44 ATM BRAF CTNNB1 ERBB2 MET MITF
8 endocrine/exocrine gland MP:0005379 10.44 ATM BRAF CTNNB1 ERBB2 HRAS MET
9 immune system MP:0005387 10.43 ATM BRAF CTNNB1 FGFR3 MET MITF
10 hematopoietic system MP:0005397 10.39 ATM BRAF CTNNB1 FGFR3 MITF MTOR
11 integument MP:0010771 10.36 ATM BRAF CTNNB1 ERBB2 FGFR3 HRAS
12 craniofacial MP:0005382 10.35 BRAF CTNNB1 ERBB2 FGFR3 HRAS MET
13 digestive/alimentary MP:0005381 10.35 BRAF CTNNB1 ERBB2 FGFR3 HRAS MET
14 neoplasm MP:0002006 10.32 ATM BRAF CTNNB1 ERBB2 FGFR3 HRAS
15 nervous system MP:0003631 10.3 ATM BRAF CTNNB1 ERBB2 FGFR3 HRAS
16 normal MP:0002873 10.28 BRAF CTNNB1 ERBB2 FGFR3 HRAS MET
17 limbs/digits/tail MP:0005371 10.24 BRAF CTNNB1 ERBB2 FGFR3 MET MITF
18 muscle MP:0005369 10.19 BRAF CTNNB1 ERBB2 MET MTOR PIK3CA
19 adipose tissue MP:0005375 10.18 ATM BRAF MTOR NFE2L2 PIK3CA PTEN
20 liver/biliary system MP:0005370 10.18 BRAF CTNNB1 MET MITF NFE2L2 NRAS
21 no phenotypic analysis MP:0003012 10.13 CTNNB1 FGFR3 HRAS MET MITF MTOR
22 renal/urinary system MP:0005367 10.1 BRAF CTNNB1 FGFR3 HRAS MET MITF
23 reproductive system MP:0005389 9.96 ATM BRAF CTNNB1 ERBB2 FGFR3 MITF
24 pigmentation MP:0001186 9.85 BRAF CTNNB1 MITF NRAS PTEN TP53
25 respiratory system MP:0005388 9.85 BRAF CTNNB1 ERBB2 FGFR3 HRAS MET
26 skeleton MP:0005390 9.8 BRAF CTNNB1 ERBB2 FGFR3 HRAS MITF
27 vision/eye MP:0005391 9.36 BRAF CTNNB1 FGFR3 MET MITF NRAS

Drugs & Therapeutics for Renal Cell Carcinoma, Papillary, 1

Drugs for Renal Cell Carcinoma, Papillary, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 387)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
2
Nicotine Approved Phase 4 54-11-5 942 89594
3
Bupropion Approved Phase 4 34911-55-2, 34841-39-9 444
4
Sorafenib Approved, Investigational Phase 4 284461-73-0 216239 406563
5 Neurotransmitter Agents Phase 4
6 Dopamine Agents Phase 4
7 Psychotropic Drugs Phase 4
8 Central Nervous System Stimulants Phase 4
9 Cholinergic Agents Phase 4
10 Nicotinic Agonists Phase 4
11 Antidepressive Agents Phase 4
12 Protein Kinase Inhibitors Phase 4
13 Liver Extracts Phase 4
14 interferons Phase 4
15
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 2, Phase 3 437-38-7 3345
16
Clonidine Approved Phase 2, Phase 3 4205-90-7 2803
17
Ethanol Approved Phase 3 64-17-5 702
18
Peginterferon alfa-2a Approved, Investigational Phase 2, Phase 3 198153-51-4 5360545
19
Promethazine Approved, Investigational Phase 3 60-87-7 4927
20
Diphenhydramine Approved, Investigational Phase 3 58-73-1, 147-24-0 3100
21
Medroxyprogesterone acetate Approved, Investigational Phase 3 71-58-9
22
Isotretinoin Approved Phase 3 4759-48-2 5282379 5538
23
Naltrexone Approved, Investigational, Vet_approved Phase 3 16590-41-3 5360515
24
Cisplatin Approved Phase 3 15663-27-1 2767 441203 84093
25
Denosumab Approved Phase 3 615258-40-7
26
Povidone-iodine Approved Phase 3 25655-41-8
27
Povidone Approved Phase 3 9003-39-8
28
Ipilimumab Approved Phase 3 477202-00-9
29
Axitinib Approved, Investigational Phase 3 319460-85-0 6450551
30
Capecitabine Approved, Investigational Phase 3 154361-50-9 60953
31
Tretinoin Approved, Investigational, Nutraceutical Phase 3 302-79-4 444795 5538
32
Abexinostat Investigational Phase 3 783355-60-2
33 Interferon alpha-2 Phase 3
34 Adrenergic alpha-Agonists Phase 2, Phase 3
35 Sympatholytics Phase 2, Phase 3
36 Adrenergic Agonists Phase 2, Phase 3
37 Histamine Antagonists Phase 3
38 Histamine H1 Antagonists Phase 3
39 Contraceptive Agents Phase 3
40 Contraceptive Agents, Male Phase 3
41 Contraceptives, Oral Phase 3
42
Medroxyprogesterone Phase 3 520-85-4 10631
43 Calcium, Dietary Phase 3
44 Narcotics Phase 3
45 Shark Cartilage Phase 3
46 Narcotic Antagonists Phase 3
47 Antimetabolites Phase 3
48 Antiviral Agents Phase 3
49 Interferon-alpha Phase 3
50 Interleukin-2 Phase 3

Interventional clinical trials:

(show top 50) (show all 1278)
# 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 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
3 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)
4 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)
5 Everolimus (Afinitor) in Patients With Metastatic Renal Cell Carcinoma Following Progression on Prior Bevacizumab Treatment Completed NCT02056587 Phase 4 Everolimus
6 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
7 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
8 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
9 Comparing the Lozenge to the Patch for Smoking Cessation Completed NCT00365508 Phase 4 nicotine lozenge;nicotine patch
10 Enhancing Tobacco Use Treatment for African American Light Smokers Completed NCT00666978 Phase 4 bupropion hydrochloride
11 ICE-SECRET PROSENSE™ Cryotherapy For Renal Cell Carcinoma Trial Recruiting NCT02399124 Phase 4
12 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
13 Mechanism of Sorafenib Resistance in Patients With Advanced Hepatocellular Carcinoma Recruiting NCT02733809 Phase 4 Sorafenib
14 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) Active, not recruiting NCT02596035 Phase 4 Nivolumab
15 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 Active, not recruiting NCT02570789 Phase 4 patients with sunitinib or pazopanib
16 Therapeutic Drug Monitoring of Sunitinib and Pazopanib in Advanced or Metastatic Renal Cell Carcinoma Active, not recruiting NCT02555748 Phase 4 Pazopanib;Sunitinib
17 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) Active, not recruiting NCT02982954 Phase 4 Nivolumab;Ipilimumab
18 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
19 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)
20 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)
21 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
22 Randomized Phase III Trial Evaluating the Importance of Nephrectomy in Patients Presenting With Metastatic Renal Cell Carcinoma Treated With Sunitinib Unknown status NCT00930033 Phase 3
23 Randomized Comparison of Sequential Therapies With Sunitinib and Sorafenib in Advanced Renal Cell Carcinoma Unknown status NCT01481870 Phase 3 Sorafenib-sunitinib;Sunitinib-sorafenib
24 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 Unknown status NCT01865747 Phase 3 Cabozantinib tablets;Everolimus (Afinitor) tablets
25 Randomized Phase III Trial Comparing Immediate Versus Deferred Nephrectomy in Patients With Synchronous Metastatic Renal Cell Carcinoma Unknown status NCT01099423 Phase 3
26 Efficacy of RAD001/Everolimus in Autism and NeuroPsychological Deficits in Children With Tuberous Sclerosis Complex Unknown status NCT01730209 Phase 2, Phase 3 Everolimus;Placebo
27 SORCE: A Phase III Randomised Double-Blind Study Comparing Sorafenib With Placebo in Patients With Resected Primary Renal Cell Carcinoma at High or Intermediate Risk of Relapse Completed NCT00492258 Phase 3 sorafenib tosylate
28 A Multicenter Uncontrolled Study of Sorafenib in Patients With Unresectable and/or Metastatic Renal Cell Carcinoma Completed NCT00586105 Phase 3 Sorafenib (Nexavar, BAY43-9006)
29 Phase 3b, Randomized, Open-Label Study Of Bevacizumab + Temsirolimus Vs. Bevacizumab + Interferon-Alfa As First-Line Treatment In Subjects With Advanced Renal Cell Carcinoma Completed NCT00631371 Phase 3 Bevacizumab;Temsirolimus;Bevacizumab;Interferon-Alfa 9MU
30 A Multi-Center, Randomized Phase III Study of Adjuvant Oncophage® Versus Observation in Subjects With High Risk of Recurrence After Surgical Treatment for Renal Cell Carcinoma Completed NCT00033904 Phase 3 autologous human tumor-derived HSPPC-96
31 Dynamic-Contrast Enhanced MRI Pharmacodynamic Study of BAY 43-9006 in Metastatic Renal Cell Carcinoma Completed NCT00606866 Phase 3 placebo;Sorafenib;Sorafenib
32 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
33 A Phase 3, Randomized Study Of SU011248 Versus Interferon-Alfa As First-Line Systemic Therapy For Patients With Metastatic Renal Cell Carcinoma Completed NCT00083889 Phase 3 Interferon-alfa;SU011248
34 An Open-label Extension Study to Assess the Safety and Efficacy of Pazopanib in Subjects With Renal Cell Carcinoma Previously Enrolled on Protocol VEG105192 Completed NCT00387764 Phase 3 pazopanib
35 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
36 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
37 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
38 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
39 A Randomized, Open-label, Multi-center, Phase II/III Study on Treatment With ABR-217620/Naptumomab Estafenatox Combined With IFN-alpha vs. IFN-alpha Alone in Patients With Advanced Renal Cell Carcinoma. Completed NCT00420888 Phase 2, Phase 3 ABR-217620/naptumomab estafenatox;IFN-alpha
40 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)
41 Phase III Randomized Sequential Open-label Study to Evaluate the Efficacy and Safety of Sorafenib Followed by Pazopanib Versus Pazopanib Followed by Sorafenib in the Treatment of Advanced / Metastatic Renal Cell Carcinoma Completed NCT01613846 Phase 3 Sorafenib+Pazopanib;Pazopanib+Sorafenib
42 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)
43 A Randomized Phase III Trial Of Interferon Alfa-2B Or Interferon Alfa-2B Plus Bevacizumab In Patients With Advanced Renal Carcinoma Completed NCT00072046 Phase 3
44 PERCY QUATTRO: Medroxyprogesterone, Interferon Alpha-2a, Interleukin 2 or Combination of Both Cytokines in Patients With Metastatic Renal Carcinoma of Intermediate Prognosis Completed NCT00291369 Phase 3 Interleukin-2;Interferon alfa;medroxyprogesterone acetate
45 A Randomised, Double-blind, Placebo Controlled, Multi-center Phase III Study to Evaluate the Efficacy and Safety of Pazopanib (GW786034) Compared to Placebo in Patients With Locally Advanced and/or Metastatic Renal Cell Carcinoma Completed NCT00334282 Phase 3 Pazopanib;placebo
46 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
47 A Phase 3, Three-Arm, Randomized, Open-Label Study Of Interferon Alfa Alone, CCI-779 Alone, And The Combination Of Interferon Alfa And CCI-779 In First-Line Poor-Prognosis Subjects With Advanced Renal Cell Carcinoma. Completed NCT00065468 Phase 3 Interferon Alfa;CCI-779;Interferon Alfa and CCI-779
48 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)
49 A Randomized, Double-blind, Placebo-controlled, Multicenter Phase III Study to Compare the Safety and Efficacy of RAD001 Plus Best Supportive Care (BSC) Versus BSC Plus Placebo in Patients With Metastatic Carcinoma of the Kidney Which Has Progressed on VEGF Receptor Tyrosine Kinase Inhibitor Completed NCT00410124 Phase 3 RAD001;Placebo
50 A Randomized, Double-blind, Placebo-controlled Phase III Study to Evaluate the Efficacy and Safety of Pazopanib as Adjuvant Therapy for Subjects With Localized or Locally Advanced RCC Following Nephrectomy Completed NCT01235962 Phase 3 pazopanib;placebo

Search NIH Clinical Center for Renal Cell Carcinoma, Papillary, 1

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: papillary renal cell carcinoma, sporadic

Genetic Tests for Renal Cell Carcinoma, Papillary, 1

Genetic tests related to Renal Cell Carcinoma, Papillary, 1:

# Genetic test Affiliating Genes
1 Renal Cell Carcinoma, Papillary, 1 29 MET PRCC
2 Papillary Renal Cell Carcinoma 29

Anatomical Context for Renal Cell Carcinoma, Papillary, 1

MalaCards organs/tissues related to Renal Cell Carcinoma, Papillary, 1:

40
Kidney, Lung, Endothelial, Brain, T Cells, Bone, Prostate

Publications for Renal Cell Carcinoma, Papillary, 1

Articles related to Renal Cell Carcinoma, Papillary, 1:

(show top 50) (show all 1020)
# Title Authors PMID Year
1
Trisomy 7-harbouring non-random duplication of the mutant MET allele in hereditary papillary renal carcinomas. 6 56
9731534 1998
2
Germline and somatic mutations in the tyrosine kinase domain of the MET proto-oncogene in papillary renal carcinomas. 56 6
9140397 1997
3
A molecular classification of papillary renal cell carcinoma. 56 61
15994935 2005
4
Review of papillary renal cell carcinoma with focus on clinical and pathobiological aspects. 61 56
12647800 2003
5
Mapping the papillary renal cell carcinoma gene between loci D17S787 and D17S1799 on chromosome 17q21.32. 56 61
10616219 1999
6
The Heidelberg classification of renal cell tumours. 56 61
9390023 1997
7
Hereditary papillary renal cell carcinoma: clinical studies in 10 families. 61 56
7853572 1995
8
Hereditary papillary renal cell carcinoma. 56 61
8308957 1994
9
Papillary renal cell carcinoma: a clinical, radiologic, and pathologic study of 34 cases. 56 61
1000477 1976
10
A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. 6
25394175 2015
11
Canadian guideline on genetic screening for hereditary renal cell cancers. 6
24319509 2013
12
Hereditary leiomyomatosis and renal cell cancer: update on clinical and molecular characteristics. 56
21404119 2011
13
Renal-cell carcinoma. 56
16339096 2005
14
Upregulation of the transcription factor TFEB in t(6;11)(p21;q13)-positive renal cell carcinomas due to promoter substitution. 56
12837690 2003
15
Understanding familial and non-familial renal cell cancer. 56
12351585 2002
16
High incidence of cancer in a family segregating a mutation of the ATM gene: possible role of ATM heterozygosity in cancer. 6
10571946 1999
17
Duplication and overexpression of the mutant allele of the MET proto-oncogene in multiple hereditary papillary renal cell tumours. 56
9715275 1998
18
Two North American families with hereditary papillary renal carcinoma and identical novel mutations in the MET proto-oncogene. 6
9563489 1998
19
Identification of the promoter of the human von Hippel-Lindau disease tumor suppressor gene. 6
7784063 1995
20
Molecular cytogenetics of renal cell tumors. 56
8109322 1993
21
Cytogenetics of papillary renal cell tumors. 56
1958590 1991
22
Hereditary renal-cell carcinoma associated with a chromosomal translocation. 56
470981 1979
23
Fast growing papillary renal cell carcinoma in first trimester pregnancy with postoperative inferior vena cava thrombosis: A case report. 61
32528855 2020
24
Hemosiderin deposition in papillary renal cell carcinoma and its potential to mask enhancement on MRI: analysis of 110 cases. 61
32518984 2020
25
Defining clear cell papillary renal cell carcinoma in routine clinical practice. 61
31989679 2020
26
Predictive Nomogram for Midterm to Long-Term Prognosis in Patients with Papillary Renal Cell Carcinoma Based on Data from the Surveillance, Epidemiology, and End Results (SEER) Program. 61
32570266 2020
27
Osteopontin is differentially expressed in renal cell tumors. 61
31914887 2020
28
Frequent KRAS mutations in oncocytic papillary renal neoplasm with inverted nuclei. 61
31997427 2020
29
Recurrent KRAS mutations in papillary renal neoplasm with reverse polarity. 61
31534204 2020
30
Immune Checkpoint Inhibitor-Mediated Myasthenia Gravis. 61
32565169 2020
31
The genomic and epigenomic evolutionary history of papillary renal cell carcinomas. 61
32555180 2020
32
Efficacy of Savolitinib vs Sunitinib in Patients With MET-Driven Papillary Renal Cell Carcinoma: The SAVOIR Phase 3 Randomized Clinical Trial. 61
32469384 2020
33
High WHO/ISUP Grade and Unfavorable Architecture, Rather Than Typing of Papillary Renal Cell Carcinoma, May Be Associated With Worse Prognosis. 61
32101890 2020
34
Integrative analysis of DNA methylation and gene expression in papillary renal cell carcinoma. 61
32185457 2020
35
Differentiation of renal cell carcinoma subtypes through MRI-based radiomics analysis. 61
32367419 2020
36
Catecholamine-induced secondary Takotsubo syndrome in a patient with pheochromocytoma and synchronous papillary renal cell carcinoma. 61
32431138 2020
37
CT texture analysis for the differentiation of papillary renal cell carcinoma subtypes. 61
32444891 2020
38
Prognostic factors for the survival of patients with papillary renal cell carcinoma after surgical management. 61
31317521 2020
39
Bone metastasis is associated with poor prognosis in metastatic papillary renal cell carcinoma patients treated with first agent angiogenesis inhibitors. 61
32430250 2020
40
Correlating Transcriptional Networks to Papillary Renal Cell Carcinoma Survival: A Large-Scale Coexpression Analysis and Clinical Validation. 61
31948514 2020
41
Activity of lenvatinib plus everolimus combination in a heavily pretreated patient with papillary renal cell carcinoma: a case report. 61
32458743 2020
42
Association Between Systemic Therapy and/or Cytoreductive Nephrectomy and Survival in Contemporary Metastatic Non-clear Cell Renal Cell Carcinoma Patients. 61
32444303 2020
43
Expression and clinical value of SALL4 in renal cell carcinomas. 61
32468053 2020
44
Kidney Cancer Following Heart Transplantation, a Common Presentation of an Uncommon Malignancy: A Unique Case Series. 61
32378819 2020
45
Recurrent KRAS mutations identified in papillary renal neoplasm with reverse polarity-a comparative study with papillary renal cell carcinoma. 61
31953522 2020
46
Oncocytic variant of papillary renal cell carcinoma: A rare or underreported entity? 61
32317548 2020
47
Urine metabolomic analysis in clear cell and papillary renal cell carcinoma: A pilot study. 61
32126320 2020
48
Axitinib in first-line for patients with metastatic papillary renal cell carcinoma: Results of the multicentre, open-label, single-arm, phase II AXIPAP trial. 61
32146304 2020
49
Nivolumab-induced lichen planus. 61
31382865 2020
50
Rare patients in routine care: Treatment and outcome in advanced papillary renal cell carcinoma in the prospective German clinical RCC-Registry. 61
31498894 2020

Variations for Renal Cell Carcinoma, Papillary, 1

ClinVar genetic disease variations for Renal Cell Carcinoma, Papillary, 1:

6 (show top 50) (show all 1016) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CTNNB1 NM_001904.4(CTNNB1):c.1374A>C (p.Glu458Asp)SNV other 438755 rs1553631848 3:41275208-41275208 3:41233717-41233717
2 VHL NM_001354723.2(VHL):c.*84_*90deldeletion Pathogenic 694389 3:10191534-10191540 3:10149850-10149856
3 MTOR NM_004958.4(MTOR):c.3026G>A (p.Arg1009Gln)SNV Pathogenic 801436 1:11288729-11288729 1:11228672-11228672
4 VHL NM_000551.3(VHL):c.548C>A (p.Ser183Ter)SNV Pathogenic 2215 rs5030823 3:10191555-10191555 3:10149871-10149871
5 VHL NM_000551.4(VHL):c.481C>T (p.Arg161Ter)SNV Pathogenic 2217 rs5030818 3:10191488-10191488 3:10149804-10149804
6 VHL NM_000551.3(VHL):c.499C>T (p.Arg167Trp)SNV Pathogenic 2218 rs5030820 3:10191506-10191506 3:10149822-10149822
7 ATM ATM, IVS61DS, 2-BP INS, +2TAinsertion Pathogenic 3037
8 PTEN NM_000314.7(PTEN):c.389G>A (p.Arg130Gln)SNV Pathogenic 7829 rs121909229 10:89692905-89692905 10:87933148-87933148
9 TP53 NM_001126112.2(TP53):c.659A>C (p.Tyr220Ser)SNV Pathogenic 12383 rs121912666 17:7578190-7578190 17:7674872-7674872
10 HRAS NM_005343.4(HRAS):c.34G>A (p.Gly12Ser)SNV Pathogenic 12602 rs104894229 11:534289-534289 11:534289-534289
11 HRAS NM_005343.4(HRAS):c.35G>C (p.Gly12Ala)SNV Pathogenic 12603 rs104894230 11:534288-534288 11:534288-534288
12 HRAS NM_005343.4(HRAS):c.34G>T (p.Gly12Cys)SNV Pathogenic 12613 rs104894229 11:534289-534289 11:534289-534289
13 PIK3CA NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg)SNV Pathogenic 13652 rs121913279 3:178952085-178952085 3:179234297-179234297
14 PIK3CA NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu)SNV Pathogenic 13653 rs121913279 3:178952085-178952085 3:179234297-179234297
15 PIK3CA NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys)SNV Pathogenic 13655 rs104886003 3:178936091-178936091 3:179218303-179218303
16 PIK3CA NM_006218.4(PIK3CA):c.1634A>C (p.Glu545Ala)SNV Pathogenic 13659 rs121913274 3:178936092-178936092 3:179218304-179218304
17 MET NM_001127500.3(MET):c.3446T>C (p.Met1149Thr)SNV Pathogenic 13881 rs121913668 7:116418881-116418881 7:116778827-116778827
18 MET NM_001127500.3(MET):c.3616G>T (p.Val1206Leu)SNV Pathogenic 13882 rs121913669 7:116422081-116422081 7:116782027-116782027
19 MET NM_001127500.3(MET):c.3637C>G (p.Leu1213Val)SNV Pathogenic 13886 rs121913673 7:116422102-116422102 7:116782048-116782048
20 MET NM_001127500.3(MET):c.3335A>G (p.His1112Arg)SNV Pathogenic 13887 rs121913243 7:116417464-116417464 7:116777410-116777410
21 NRAS NM_002524.5(NRAS):c.182A>G (p.Gln61Arg)SNV Pathogenic 13900 rs11554290 1:115256529-115256529 1:114713908-114713908
22 BRAF NM_001374258.1(BRAF):c.1919T>A (p.Val640Glu)SNV Pathogenic,drug response 13961 rs113488022 7:140453136-140453136 7:140753336-140753336
23 FGFR3 NM_001163213.1(FGFR3):c.746C>G (p.Ser249Cys)SNV Pathogenic 16339 rs121913483 4:1803568-1803568 4:1801841-1801841
24 PIK3CA NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr)SNV Pathogenic 39705 rs121913281 3:178952084-178952084 3:179234296-179234296
25 TP53 NM_000546.6(TP53):c.659A>G (p.Tyr220Cys)SNV Pathogenic 127819 rs121912666 17:7578190-7578190 17:7674872-7674872
26 TP53 NM_000546.6(TP53):c.638G>A (p.Arg213Gln)SNV Pathogenic 135359 rs587778720 17:7578211-7578211 17:7674893-7674893
27 TP53 NM_001126112.2(TP53):c.422G>A (p.Cys141Tyr)SNV Pathogenic 140801 rs587781288 17:7578508-7578508 17:7675190-7675190
28 TP53 NM_001126112.2(TP53):c.844C>G (p.Arg282Gly)SNV Pathogenic 140821 rs28934574 17:7577094-7577094 17:7673776-7673776
29 TP53 NM_001126112.2(TP53):c.842A>G (p.Asp281Gly)SNV Pathogenic 141141 rs587781525 17:7577096-7577096 17:7673778-7673778
30 PTEN NM_000314.7(PTEN):c.389G>C (p.Arg130Pro)SNV Pathogenic 142018 rs121909229 10:89692905-89692905 10:87933148-87933148
31 MET NM_001127500.3(MET):c.3328G>A (p.Val1110Ile)SNV Pathogenic 186141 rs786202724 7:116417457-116417457 7:116777403-116777403
32 MTOR NM_004958.4(MTOR):c.4448G>T (p.Cys1483Phe)SNV Pathogenic 190121 rs786205165 1:11217230-11217230 1:11157173-11157173
33 TP53 NM_001126112.2(TP53):c.374C>A (p.Thr125Lys)SNV Pathogenic 216465 rs786201057 17:7579313-7579313 17:7675995-7675995
34 NRAS NM_002524.5(NRAS):c.182A>C (p.Gln61Pro)SNV Pathogenic 280409 rs11554290 1:115256529-115256529 1:114713908-114713908
35 NRAS NM_002524.5(NRAS):c.183A>T (p.Gln61His)SNV Pathogenic 373003 rs121913255 1:115256528-115256528 1:114713907-114713907
36 PTEN NM_001304718.2(PTEN):c.-363C>GSNV Pathogenic 375958 rs121909224 10:89692904-89692904 10:87933147-87933147
37 TP53 NM_001126112.2(TP53):c.841G>T (p.Asp281Tyr)SNV Pathogenic 376585 rs764146326 17:7577097-7577097 17:7673779-7673779
38 TP53 NM_001126112.2(TP53):c.841G>A (p.Asp281Asn)SNV Pathogenic 376586 rs764146326 17:7577097-7577097 17:7673779-7673779
39 TP53 NM_001126112.2(TP53):c.578A>C (p.His193Pro)SNV Pathogenic 376612 rs786201838 17:7578271-7578271 17:7674953-7674953
40 TP53 NM_001126112.2(TP53):c.722C>A (p.Ser241Tyr)SNV Pathogenic 376663 rs28934573 17:7577559-7577559 17:7674241-7674241
41 TP53 NM_001126112.2(TP53):c.374C>G (p.Thr125Arg)SNV Pathogenic/Likely pathogenic 376667 rs786201057 17:7579313-7579313 17:7675995-7675995
42 TP53 NM_000546.6(TP53):c.845G>C (p.Arg282Pro)SNV Pathogenic/Likely pathogenic 376659 rs730882008 17:7577093-7577093 17:7673775-7673775
43 MTOR NM_004958.4(MTOR):c.6644C>A (p.Ser2215Tyr)SNV Pathogenic/Likely pathogenic 376129 rs587777894 1:11184573-11184573 1:11124516-11124516
44 MTOR NM_004958.4(MTOR):c.4447T>C (p.Cys1483Arg)SNV Pathogenic/Likely pathogenic 374796 rs1057519914 1:11217231-11217231 1:11157174-11157174
45 NRAS NM_002524.5(NRAS):c.182A>T (p.Gln61Leu)SNV Pathogenic/Likely pathogenic 375874 rs11554290 1:115256529-115256529 1:114713908-114713908
46 PIK3CA NM_006218.4(PIK3CA):c.1633G>C (p.Glu545Gln)SNV Pathogenic/Likely pathogenic,drug response 375896 rs104886003 3:178936091-178936091 3:179218303-179218303
47 PIK3CA NM_006218.4(PIK3CA):c.1624G>C (p.Glu542Gln)SNV Pathogenic/Likely pathogenic 376244 rs121913273 3:178936082-178936082 3:179218294-179218294
48 PTEN NM_000314.7(PTEN):c.389G>T (p.Arg130Leu)SNV Pathogenic/Likely pathogenic 376509 rs121909229 10:89692905-89692905 10:87933148-87933148
49 TP53 NM_001126112.2(TP53):c.824G>A (p.Cys275Tyr)SNV Pathogenic/Likely pathogenic 215997 rs863224451 17:7577114-7577114 17:7673796-7673796
50 TP53 NM_001126112.2(TP53):c.638G>C (p.Arg213Pro)SNV Pathogenic/Likely pathogenic 231214 rs587778720 17:7578211-7578211 17:7674893-7674893

UniProtKB/Swiss-Prot genetic disease variations for Renal Cell Carcinoma, Papillary, 1:

73 (show all 15)
# Symbol AA change Variation ID SNP ID
1 MET p.Met1131Thr VAR_006286 rs121913668
2 MET p.Val1188Leu VAR_006287 rs121913669
3 MET p.Leu1195Val VAR_006288 rs121913673
4 MET p.Val1220Ile VAR_006289 rs121913670
5 MET p.Asp1228Asn VAR_006290 rs121913671
6 MET p.Asp1228His VAR_006291 rs121913671
7 MET p.Tyr1230Cys VAR_006292 rs121913246
8 MET p.Tyr1230His VAR_006293 rs121913247
9 MET p.Met1250Thr VAR_006294 rs121913245
10 MET p.Val1092Ile VAR_032485 rs786202724
11 MET p.His1094Leu VAR_032486
12 MET p.His1094Arg VAR_032487 rs121913243
13 MET p.His1094Tyr VAR_032488 rs121913244
14 MET p.His1106Asp VAR_032489
15 MET p.Tyr1230Asp VAR_032491

Cosmic variations for Renal Cell Carcinoma, Papillary, 1:

9 (show top 50) (show all 1659)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM87583829 ZNF462 kidney,NS,carcinoma,papillary renal cell carcinoma c.7085G>A p.R2362Q 9:107003322-107003322 9
2 COSM151995781 ZNF281 kidney,NS,carcinoma,papillary renal cell carcinoma c.2093C>T p.P698L 1:200407613-200407613 9
3 COSM85326448 ZNF225 kidney,NS,carcinoma,papillary renal cell carcinoma c.1187G>T p.G396V 19:44131801-44131801 9
4 COSM105902090 ZNF142 kidney,NS,carcinoma,papillary renal cell carcinoma c.3811G>T p.D1271Y 2:218642705-218642705 9
5 COSM149269629 ZFHX3 kidney,NS,carcinoma,papillary renal cell carcinoma c.2590T>C p.Y864H 16:72957556-72957556 9
6 COSM89411866 ZBTB2 kidney,NS,carcinoma,papillary renal cell carcinoma c.931G>A p.E311K 6:151366135-151366135 9
7 COSM87436198 XPO4 kidney,NS,carcinoma,papillary renal cell carcinoma c.1299C>A p.F433L 13:20809842-20809842 9
8 COSM101982001 XPO1 kidney,NS,carcinoma,papillary renal cell carcinoma c.259A>G p.I87V 2:61522653-61522653 9
9 COSM136040220 XKR7 kidney,NS,carcinoma,papillary renal cell carcinoma c.1409C>T p.T470M 20:31997126-31997126 9
10 COSM94289415 XIAP kidney,NS,carcinoma,renal cell carcinoma unclassified c.563G>C p.G188A 23:123886225-123886225 9
11 COSM101580971 WDR89 kidney,NS,carcinoma,papillary renal cell carcinoma c.260C>A p.S87* 14:63599683-63599683 9
12 COSM88295075 VHL kidney,NS,carcinoma,papillary renal cell carcinoma c.556G>T p.E186* 3:10149879-10149879 9
13 COSM88289113 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.341-2A>T p.? 3:10146512-10146512 9
14 COSM88304452 VHL kidney,NS,carcinoma,papillary renal cell carcinoma c.443T>C p.F148S 3:10146616-10146616 9
15 COSM88294223 VHL kidney,NS,carcinoma,papillary renal cell carcinoma c.499C>T p.R167W 3:10149822-10149822 9
16 COSM88297043 VHL kidney,NS,carcinoma,renal cell c.485G>T p.C162F 3:10149808-10149808 9
17 COSM88292918 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.500G>A p.R167Q 3:10149823-10149823 9
18 COSM88288959 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.482G>A p.R161Q 3:10149805-10149805 9
19 COSM88292107 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.256C>T p.P86S 3:10142103-10142103 9
20 COSM88293667 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.548C>A p.S183* 3:10149871-10149871 9
21 COSM88290223 VHL kidney,NS,carcinoma,papillary renal cell carcinoma c.341G>C p.G114A 3:10146514-10146514 9
22 COSM88289297 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.266T>A p.L89H 3:10142113-10142113 9
23 COSM88290436 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.353T>C p.L118P 3:10146526-10146526 9
24 COSM88292022 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.245G>C p.R82P 3:10142092-10142092 9
25 COSM88294468 VHL kidney,NS,carcinoma,papillary renal cell carcinoma c.473T>G p.L158R 3:10149796-10149796 9
26 COSM88289282 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.217C>T p.Q73* 3:10142064-10142064 9
27 COSM88291948 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.234T>G p.N78K 3:10142081-10142081 9
28 COSM88291649 VHL kidney,NS,carcinoma,papillary renal cell carcinoma c.263G>A p.W88* 3:10142110-10142110 9
29 COSM88307712 VHL kidney,NS,carcinoma,papillary renal cell carcinoma c.523T>G p.Y175D 3:10149846-10149846 9
30 COSM88294445 VHL kidney,NS,carcinoma,papillary renal cell carcinoma c.264G>C p.W88C 3:10142111-10142111 9
31 COSM88304413 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.292T>G p.Y98D 3:10142139-10142139 9
32 COSM116252634 VAPB kidney,NS,carcinoma,papillary renal cell carcinoma c.149G>A p.R50H 20:58418301-58418301 9
33 COSM86257077 USP24 kidney,NS,carcinoma,papillary renal cell carcinoma c.6116A>G p.Y2039C 1:55095342-55095342 9
34 COSM102137830 UROC1 kidney,NS,carcinoma,papillary renal cell carcinoma c.401A>G p.N134S 3:126508426-126508426 9
35 COSM85360217 UMPS kidney,NS,carcinoma,renal cell c.528G>A p.L176= 3:124737785-124737785 9
36 COSM98469847 UBR4 kidney,NS,carcinoma,papillary renal cell carcinoma c.8588C>T p.A2863V 1:19140793-19140793 9
37 COSM105577637 TXNRD2 kidney,NS,carcinoma,papillary renal cell carcinoma c.1017G>T p.Q339H 22:19883394-19883394 9
38 COSM140463106 TTN kidney,NS,carcinoma,papillary renal cell carcinoma c.61042G>T p.E20348* 2:178590683-178590683 9
39 COSM87037342 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.2356-1G>C p.? 16:2074199-2074199 9
40 COSM87037337 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.1636G>T p.E546* 16:2065555-2065555 9
41 COSM87037202 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.976-1G>A p.? 16:2060669-2060669 9
42 COSM87030528 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.3412C>T p.R1138* 16:2080179-2080179 9
43 COSM87047996 TSC2 kidney,NS,carcinoma,papillary renal cell carcinoma c.512G>C p.G171A 16:2055432-2055432 9
44 COSM87037219 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.1717-1G>C p.? 16:2070455-2070455 9
45 COSM87037265 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.774+1G>A p.? 16:2056770-2056770 9
46 COSM87049432 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.541G>A p.V181M 16:2055461-2055461 9
47 COSM87037238 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.390C>G p.Y130* 16:2054349-2054349 9
48 COSM87037320 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.731G>T p.C244F 16:2056726-2056726 9
49 COSM87036869 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.1119+1G>T p.? 16:2060814-2060814 9
50 COSM87037346 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.975+1G>T p.? 16:2058874-2058874 9

Expression for Renal Cell Carcinoma, Papillary, 1

Search GEO for disease gene expression data for Renal Cell Carcinoma, Papillary, 1.

Pathways for Renal Cell Carcinoma, Papillary, 1

Pathways related to Renal Cell Carcinoma, Papillary, 1 according to GeneCards Suite gene sharing:

(show top 50) (show all 130)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.15 VHL TP53 PTEN PIK3CA NRAS MTOR
2
Show member pathways
13.95 VHL TP53 RHEB PTEN NRAS MTOR
3
Show member pathways
13.83 PIK3CA NRAS MTOR MET HRAS FGFR3
4
Show member pathways
13.66 TP53 PIK3CA NRAS MTOR MET HRAS
5
Show member pathways
13.65 NRAS MTOR MET HRAS FGFR3 ERBB2
6
Show member pathways
13.6 PIK3CA NRAS MET HRAS FGFR3 ERBB2
7
Show member pathways
13.59 VHL TP53 PTEN PIK3CA NRAS MTOR
8
Show member pathways
13.52 TP53 PTEN NRAS MTOR MET HRAS
9
Show member pathways
13.47 TP53 PIK3CA NRAS MET HRAS FGFR3
10
Show member pathways
13.4 PTEN NRAS MET HRAS FGFR3 ERBB2
11
Show member pathways
13.38 NRAS MET HRAS FGFR3 ERBB2 CTNNB1
12
Show member pathways
13.32 TP53 PTEN NRAS MTOR HRAS ERBB2
13
Show member pathways
13.31 TP53 SDHB PIK3CA NRAS NFE2L2 MTOR
14
Show member pathways
13.23 VHL TP53 RHEB MTOR ELOC ATM
15
Show member pathways
13.23 TP53 PTEN PIK3CA MTOR MET FGFR3
16
Show member pathways
13.21 TP53 RHEB PTEN PIK3CA NRAS MTOR
17
Show member pathways
13.21 TP53 PTEN NRAS MTOR MET HRAS
18
Show member pathways
13.16 TP53 PIK3CA NRAS HRAS CTNNB1 BRAF
19
Show member pathways
13.15 RHEB NRAS MTOR MET HRAS FGFR3
20
Show member pathways
13.1 TP53 RHEB PIK3CA NRAS MTOR HRAS
21
Show member pathways
13.09 TP53 NRAS MET HRAS CTNNB1 BRAF
22
Show member pathways
13.09 TP53 RHEB PTEN PIK3CA NRAS MTOR
23
Show member pathways
13.07 TP53 RHEB PTEN MTOR ELOC ATM
24
Show member pathways
13.07 RHEB PTEN PIK3CA NRAS MTOR MET
25
Show member pathways
13.06 PTEN PIK3CA NRAS MET HRAS ERBB2
26
Show member pathways
13.02 PTEN PIK3CA NRAS MTOR HRAS FGFR3
27
Show member pathways
13.02 TP53 RHEB PTEN PIK3CA NRAS MTOR
28
Show member pathways
12.94 PIK3CA NRAS MET HRAS BRAF
29 12.92 TP53 NRAS MET HRAS FGFR3 ERBB2
30
Show member pathways
12.9 NRAS MTOR HRAS CTNNB1 BRAF
31
Show member pathways
12.89 PIK3CA NRAS MET HRAS FGFR3 CTNNB1
32
Show member pathways
12.89 TP53 PTEN PIK3CA NRAS MTOR MET
33
Show member pathways
12.89 TP53 PTEN PIK3CA NRAS MTOR MET
34
Show member pathways
12.87 PTEN PIK3CA MTOR HRAS BRAF
35
Show member pathways
12.84 TP53 PTEN PIK3CA NRAS NFE2L2 MTOR
36
Show member pathways
12.81 TP53 PIK3CA NRAS HRAS ATM
37
Show member pathways
12.79 RHEB PIK3CA NRAS MTOR HRAS CTNNB1
38 12.74 PIK3CA NRAS HRAS FGFR3 BRAF
39
Show member pathways
12.73 TP53 PIK3CA NRAS HRAS ERBB2 CTNNB1
40
Show member pathways
12.71 PTEN PIK3CA NRAS MTOR HRAS
41
Show member pathways
12.71 TP53 PTEN PIK3CA NRAS MTOR MITF
42
Show member pathways
12.69 TP53 PTEN PIK3CA NRAS MTOR HRAS
43
Show member pathways
12.68 PIK3CA NRAS HRAS FGFR3 BRAF
44 12.65 TP53 PTEN PIK3CA NRAS MTOR MET
45
Show member pathways
12.64 RHEB PTEN PIK3CA MTOR HRAS
46
Show member pathways
12.64 PTEN PIK3CA NRAS MTOR HRAS ERBB2
47
Show member pathways
12.61 PIK3CA NRAS MTOR MET HRAS
48
Show member pathways
12.61 TP53 RHEB PIK3CA MTOR HRAS
49
Show member pathways
12.58 PTEN PIK3CA NRAS MTOR HRAS
50
Show member pathways
12.58 TP53 RHEB PTEN PIK3CA MTOR MET

GO Terms for Renal Cell Carcinoma, Papillary, 1

Cellular components related to Renal Cell Carcinoma, Papillary, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.83 VHL TP53 SF3B1 PTEN PRCC NFE2L2
2 nucleoplasm GO:0005654 9.44 VHL TP53 SF3B1 SDHB PTEN PRCC

Biological processes related to Renal Cell Carcinoma, Papillary, 1 according to GeneCards Suite gene sharing:

(show all 34)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.17 TP53 NFE2L2 MITF MET HRAS CTNNB1
2 regulation of transcription by RNA polymerase II GO:0006357 10.14 TP53 NFE2L2 MITF ERBB2 ELOC CTNNB1
3 negative regulation of cell proliferation GO:0008285 10.03 VHL TP53 PTEN HRAS CTNNB1
4 negative regulation of apoptotic process GO:0043066 9.99 VHL TP53 PTEN MITF CTNNB1 BRAF
5 phosphorylation GO:0016310 9.95 PIK3CA MTOR MET FGFR3 ERBB2 BRAF
6 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.94 PTEN HRAS FGFR3 BRAF
7 regulation of cell proliferation GO:0042127 9.94 TP53 MITF CTNNB1 BRAF
8 protein phosphorylation GO:0006468 9.91 PIK3CA MTOR MET FGFR3 ERBB2 BRAF
9 protein autophosphorylation GO:0046777 9.88 MTOR FGFR3 ERBB2 ATM
10 peptidyl-tyrosine phosphorylation GO:0018108 9.86 MET FGFR3 ERBB2 BRAF
11 cellular response to hypoxia GO:0071456 9.84 TP53 PTEN NFE2L2 MTOR
12 positive regulation of kinase activity GO:0033674 9.83 MET FGFR3 ERBB2
13 heart development GO:0007507 9.83 TP53 PTEN ERBB2 CTNNB1 ATM
14 Ras protein signal transduction GO:0007265 9.82 TP53 NRAS HRAS
15 cellular response to drug GO:0035690 9.81 TP53 NFE2L2 BRAF
16 positive regulation of MAPK cascade GO:0043410 9.8 HRAS FGFR3 ERBB2 CTNNB1
17 positive regulation of neuron apoptotic process GO:0043525 9.77 TP53 CTNNB1 ATM
18 thymus development GO:0048538 9.74 CTNNB1 BRAF ATM
19 phosphatidylinositol 3-kinase signaling GO:0014065 9.72 PTEN PIK3CA ERBB2
20 anoikis GO:0043276 9.66 PIK3CA MTOR
21 negative regulation of cell size GO:0045792 9.65 PTEN MTOR
22 cellular response to gamma radiation GO:0071480 9.65 TP53 HRAS ATM
23 positive regulation of protein kinase B signaling GO:0051897 9.65 PIK3CA MTOR MET FGFR3 ERBB2
24 cell aging GO:0007569 9.63 TP53 MTOR HRAS
25 entry of bacterium into host cell GO:0035635 9.62 MET CTNNB1
26 positive regulation of DNA-templated transcription, initiation GO:2000144 9.61 MITF CTNNB1
27 regulation of axon regeneration GO:0048679 9.61 PTEN BRAF
28 positive regulation of transcription from RNA polymerase II promoter in response to stress GO:0036003 9.6 TP53 NFE2L2
29 positive regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061419 9.58 TP53 NFE2L2
30 cell cycle arrest GO:0007050 9.55 TP53 RHEB MTOR HRAS ATM
31 canonical Wnt signaling pathway involved in negative regulation of apoptotic process GO:0044336 9.52 MITF CTNNB1
32 regulation of osteoclast differentiation GO:0045670 9.5 MTOR MITF CTNNB1
33 MAPK cascade GO:0000165 9.43 NRAS MET HRAS FGFR3 ERBB2 BRAF
34 positive regulation of gene expression GO:0010628 9.32 TP53 PTEN NFE2L2 MTOR MITF HRAS

Molecular functions related to Renal Cell Carcinoma, Papillary, 1 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 10.03 TP53 PIK3CA MTOR MET FGFR3 ERBB2
2 identical protein binding GO:0042802 10.01 TP53 PTEN MTOR MET FGFR3 ERBB2
3 protein kinase binding GO:0019901 9.92 TP53 RHEB PTEN MTOR CTNNB1
4 protein-containing complex binding GO:0044877 9.85 NRAS MTOR HRAS BRAF ATM
5 protein kinase activity GO:0004672 9.85 MTOR MET FGFR3 ERBB2 BRAF ATM
6 kinase activity GO:0016301 9.7 PIK3CA MTOR MET FGFR3 ERBB2 BRAF
7 GDP binding GO:0019003 9.67 RHEB NRAS HRAS
8 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.65 MET FGFR3 ERBB2
9 nucleotide binding GO:0000166 9.65 RHEB PIK3CA NRAS MTOR MET HRAS
10 protein tyrosine kinase activity GO:0004713 9.62 MET FGFR3 ERBB2 BRAF
11 protein binding GO:0005515 9.62 VHL TP53 SF3B1 SDHB RHEB PTEN
12 protein phosphatase binding GO:0019903 9.56 TP53 MET ERBB2 CTNNB1
13 1-phosphatidylinositol-3-kinase activity GO:0016303 9.51 PIK3CA ATM

Sources for Renal Cell Carcinoma, Papillary, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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