RCCP
MCID: RNL101
MIFTS: 63

Renal Cell Carcinoma, Papillary (RCCP) malady

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

Aliases & Classifications for Renal Cell Carcinoma, Papillary

Aliases & Descriptions for Renal Cell Carcinoma, Papillary:

Name: Renal Cell Carcinoma, Papillary 54 13
Papillary Renal Cell Carcinoma 38 12 50 56 14 69
Papillary Renal Cell Carcinoma, Sporadic 42 69
Renal Cell Carcinoma, Xp11-Associated 54 69
Renal Cell Carcinoma Xp11-Associated 66 29
Papillary Renal Cell Adenocarcinoma 50 56
Renal Cell Carcinoma, Papillary, 1 54 13
Renal Cell Carcinoma Papillary 1 66 29
Renal Cell Carcinoma Papillary 66 29
Rccp 50 66
Renal Cell Carcinoma, Papillary, 1, Familial and Somatic 54
Carcinoma Associated with Mitf/tfe Translocation 56
Mit Family Translocation Renal Cell Carcinoma 56
Papillary Renal Cell Carcinoma, Bilateral - 50
Papillary Renal Cell Carcinoma, Familial - 50
Papillary Renal Cell Carcinoma, Multiple - 50
Papillary Renal Cell Carcinoma, Sporadic - 50
Hereditary Papillary Renal Cell Carcinoma 56
Sporadic Papillary Renal Cell Carcinoma 12
Papillary Renal Carcinoma, Malignant - 50
Hereditary Papillary Renal Carcinoma 69
Translocation Renal Cell Carcinoma 56
Chromophilic Renal Cell Carcinoma 66
Chromophil Carcinoma of Kidney 12
Papillary Renal Adenocarcinoma 69
Papillary Kidney Carcinoma 12
Papillary Renal Carcinoma 24
Papillary Kidney Cancer 69
Papillary Renal Cancer 24
Renal Cell Carcinoma 69
Renal Adenocarcinoma 50
Hprcc 56
Rccx1 66
Prcc 66

Characteristics:

Orphanet epidemiological data:

56
hereditary papillary renal cell carcinoma
Inheritance: Autosomal dominant; Age of onset: Adult;

HPO:

32
renal cell carcinoma, papillary:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance

renal cell carcinoma, papillary, 1:
Inheritance somatic mutation


Classifications:

Orphanet: 56  
Rare renal diseases


External Ids:

Disease Ontology 12 DOID:4465
NCIt 47 C27890 C6975
SNOMED-CT 64 4797003
UMLS via Orphanet 70 C1306837 C2931899
ICD10 via Orphanet 34 C64
MESH via Orphanet 43 C538614

Summaries for Renal Cell Carcinoma, Papillary

OMIM : 54 Xp11 translocation renal cell carcinomas (RCCX1) are a group of neoplasms distinguished by chromosomal translocations... (300854) more...

MalaCards based summary : Renal Cell Carcinoma, Papillary, also known as papillary renal cell carcinoma, is related to collecting duct carcinoma and clear cell papillary renal cell carcinoma, and has symptoms including renal cell carcinoma, papillary renal cell carcinoma and flank pain. An important gene associated with Renal Cell Carcinoma, Papillary is MET (MET Proto-Oncogene, Receptor Tyrosine Kinase), and among its related pathways/superpathways are Glucose / Energy Metabolism and Pathways in cancer. The drugs Bevacizumab and Everolimus have been mentioned in the context of this disorder. Affiliated tissues include kidney, brain and prostate.

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

NIH Rare Diseases : 50 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.renal cell carcinomas 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. last updated: 2/11/2016

UniProtKB/Swiss-Prot : 66 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. Renal cell carcinoma Xp11-associated: 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. RCCX1 histology shows both clear cells and papillary architecture, often with abundant psammoma bodies, although variable histologic features have been observed.

Related Diseases for Renal Cell Carcinoma, Papillary

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

(show top 50) (show all 52)
id Related Disease Score Top Affiliating Genes
1 collecting duct carcinoma 29.5 ASPSCR1 MITF PRCC TFE3 TFEB
2 clear cell papillary renal cell carcinoma 12.4
3 chromophil renal cell carcinoma 12.2
4 familial renal papillary carcinoma 11.1
5 renal cell carcinoma 10.4
6 waardenburg syndrome/ocular albinism, digenic 10.4 MITF TFE3
7 complement deficiency 10.3 FH MET
8 advanced sleep-phase syndrome, familial, 2 10.3 ASPSCR1 MET TFE3
9 kimura disease 10.3 KRT7 PAX8
10 rectum kaposi's sarcoma 10.3 FH MET MITF
11 mediastinum sarcoma 10.3 ASPSCR1 KIT TFE3
12 mucinous tubular and spindle renal cell carcinoma 10.3 AMACR MME PAX8
13 factitious disorder 10.3 KIT MITF MME
14 gastrointestinal neuroendocrine tumor 10.3 KRT7 PAX8
15 leydig cell tumor 10.3 FH MITF
16 fuchs' heterochromic uveitis 10.3 AMACR KRT7 PAX8
17 skin amelanotic melanoma 10.3 KRT7 MME
18 cranial nerve disease 10.3 KIT MME PAX8
19 lice infestation 10.3 KIT KRT7 MET
20 paranasal sinus cancer 10.3 KIT KRT7 MME
21 retinal vein occlusion 10.3 CDH16 KIT MME
22 fallopian tube mucinous tumor 10.3 KRT7 MME
23 alpha chain disease 10.3 KIT KRT7 MITF
24 peripheral nervous system ganglioneuroblastoma 10.2 AMACR B3GAT1 KRT7 PRCC
25 endocrine organ benign neoplasm 10.2 KIT KRT7 MME
26 diffuse idiopathic skeletal hyperostosis 10.2 KRT7 MME
27 amyloidosis, hereditary, transthyretin-related 10.2 KIT KRT7 MET
28 glomus tumor 10.2 KIT MITF
29 chronic granulomatous disease 10.2 CDH16 KIT KRT7 MME
30 malignant pleural solitary fibrous tumor 10.2 KIT KRT7 MITF MME
31 sarcomatoid mesothelioma 10.2 AMACR KRT7 MME PRCC TFE3
32 nonossifying fibromyxoid tumor 10.2 KIT KRT7
33 mucinous adenofibroma 10.2 AMACR B3GAT1
34 gallbladder cancer 10.2 AMACR CDH16 KIT MME PAX8
35 lipoadenoma 10.2 AMACR CDH16 FH KIT MME
36 adenocarcinoma 10.2
37 nodular tenosynovitis 10.1 B3GAT1 CA9 KRT7 MME PAX8
38 generalized eruptive keratoacanthoma 10.1 AMACR CA9 KRT7 MITF MME TFE3
39 conjunctival intraepithelial neoplasm 10.1 MME PAX8
40 parathyroid adenoma 9.7
41 clear cell renal cell carcinoma 9.7
42 papillary adenoma 9.7
43 bernard-soulier syndrome, type c 9.7 AMACR CA9 CDH16 FH KIT KRT7
44 liposarcoma 9.6
45 myocarditis 9.4
46 bk-virus nephropathy 9.4
47 gas gangrene 9.4
48 sarcoma 9.4
49 melanoma 9.4
50 mucinous adenocarcinoma 9.4

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



Diseases related to Renal Cell Carcinoma, Papillary

Symptoms & Phenotypes for Renal Cell Carcinoma, Papillary

Clinical features from OMIM:

605074 300854

Human phenotypes related to Renal Cell Carcinoma, Papillary:

32
id Description HPO Frequency HPO Source Accession
1 renal cell carcinoma 32 HP:0005584
2 papillary renal cell carcinoma 32 HP:0006766

UMLS symptoms related to Renal Cell Carcinoma, Papillary:


flank pain

Drugs & Therapeutics for Renal Cell Carcinoma, Papillary

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

(show top 50) (show all 486)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bevacizumab Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2,Early Phase 1 216974-75-3
2
Everolimus Approved Phase 4,Phase 2,Phase 3,Phase 1 159351-69-6 6442177
3
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 22916-47-8 4189
4
Sirolimus Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 53123-88-9 5284616 6436030 46835353
5
Sunitinib Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 341031-54-7, 557795-19-4 5329102
6
Aldesleukin Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 85898-30-2, 110942-02-4
7
Epinephrine Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 51-43-4 5816
8
Sorafenib Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 284461-73-0 216239 406563
9
Axitinib Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 319460-85-0 6450551
10
Gemcitabine Approved Phase 4,Phase 2,Phase 1 95058-81-4 60750
11
Zoledronic acid Approved Phase 4,Phase 1,Phase 2 118072-93-8 68740
12
Bupivacaine Approved, Investigational Phase 4,Phase 2,Phase 3 2180-92-9, 38396-39-3 2474
13
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4,Phase 3,Phase 2 437-38-7 3345
14
Midazolam Approved, Illicit Phase 4,Phase 1 59467-70-8 4192
15
Dexmedetomidine Approved, Vet_approved Phase 4 76631-46-4, 113775-47-6 68602 5311068 56032
16
Nicotine Approved Phase 4 54-11-5 942 89594
17
nivolumab Approved Phase 4,Phase 3,Phase 1,Phase 2,Early Phase 1 946414-94-4
18
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 59-30-3 6037
19
Niacin Approved, Investigational, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 59-67-6 938
20
Nicotinamide Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 98-92-0 936
21
Caffeine Approved, Nutraceutical Phase 4 58-08-2 2519
22 Angiogenesis Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
23 Angiogenesis Modulating Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
24 Anti-Bacterial Agents Phase 4,Phase 3,Phase 2,Phase 1
25 Antibiotics, Antitubercular Phase 4,Phase 3,Phase 2,Phase 1
26 Antifungal Agents Phase 4,Phase 2,Phase 3,Phase 1
27 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
28 Immunosuppressive Agents Phase 4,Phase 3,Phase 2,Phase 1
29 interferons Phase 4,Phase 3,Phase 2,Phase 1
30 Analgesics Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
31 Analgesics, Non-Narcotic Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
32 Anti-HIV Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
33 Anti-Retroviral Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
34 Antiviral Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
35 Interleukin-2 Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
36 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
37 Epinephryl borate Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
38 Racepinephrine Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
39 Micronutrients Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
40 Nicotinic Acids Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
41 Protein Kinase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
42 Trace Elements Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
43 Vitamin B Complex Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
44 Vitamins Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
45 Neurotransmitter Agents Phase 4,Phase 2,Phase 1,Early Phase 1
46 Liver Extracts Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
47 Antibodies Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
48 Antibodies, Monoclonal Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
49 Immunoglobulins Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
50 Interferon-alpha Phase 4,Phase 3,Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 1422)
id Name Status NCT ID Phase
1 Study to the Optimal Duration of Therapy With Oral Angiogenesis Inhibitors Unknown status NCT00777504 Phase 4
2 Everolimus in Patients With Metastatic Renal Cell Carcinoma Following Progression on Prior Bevacizumab Treatment Completed NCT02056587 Phase 4
3 SUTENT® In The First Line Treatment Of Renal Cell Carcinoma Completed NCT00460798 Phase 4
4 Interleukin-2 in Treating Patients With Metastatic Kidney Cancer Completed NCT00006864 Phase 4
5 Retrospective Analysis Of Progression Free Survival And Overall Survival In A National Cohort Of Patients With Metastatic Renal Cell Carcinoma Treated In Denmark From 2006-2010. DARENCA Study 2. Completed NCT01339962 Phase 4
6 Effect of Zoledronic Acid in Patients With Renal Cell Cancer and Bone Metastasis Completed NCT00172003 Phase 4
7 Cardiac Arrhythmias in Patients Undergoing Kidney Cancer Surgery Depending on the Anaesthesia Method Completed NCT02988219 Phase 4
8 Safety and Efficacy of Everolimus in Metastatic Renal Cell Carcinoma After Failure of First Line Therapy With Sunitinib or Pazopanib Completed NCT01514448 Phase 4
9 Safety And Efficacy Study Of Sunitinib Malate As First-Line Systemic Therapy In Chinese Patients With Metastatic Renal Cell Carcinoma Completed NCT00706706 Phase 4
10 Sorafenib in Elderly mRCC Completed NCT01728948 Phase 4
11 Cytochrom p450 3A4 and 1A2 Phenotyping for the Individualization of Treatment With Sunitinib or Erlotinib in Cancer Patients Completed NCT01402089 Phase 4
12 Effects of Dexmedetomidine During Radiofrequency Ablation of Abdominal Tumours Completed NCT02016391 Phase 4
13 Counseling and Nicotine Replacement Therapy in Helping Adult Smokers Quit Smoking Completed NCT00365508 Phase 4
14 Axitinib in Metastatic Renal Cell Carcinoma Patients With Favorable Prognostic Factors Recruiting NCT02700568 Phase 4
15 Post Marketing Surveillance for PROSENSE™ a Cryotherapy Treatment of Renal Cell Carcinoma Recruiting NCT02399124 Phase 4
16 A Trial of Everolimis in Patients With Advanced Renal Cell Carcinoma. Recruiting NCT01206764 Phase 4
17 Evaluation of Predictive Markers for Toxicity and Efficacy in Patients With mccRCC Treated by Anti-VEGF Therapy Recruiting NCT02570789 Phase 4
18 Therapeutic Drug Monitoring of Sunitinib and Pazopanib in Advanced or Metastatic Renal Cell Carcinoma Recruiting NCT02555748 Phase 4
19 First Line Pazopanib in Poor Risk Patients With Metastatic Renal Cell Carcinoma Recruiting NCT01521715 Phase 4
20 A Study to Evaluate the Safety of Nivolumab and Ipilimumab in Subjects With Previously Untreated Advanced or Metastatic Renal Cell Cancer Recruiting NCT02982954 Phase 4
21 A Safety Trial of Nivolumab in Patients With Advanced or Metastatic Renal Cell Carcinoma Active, not recruiting NCT02596035 Phase 4
22 Open Label, Single Arm Trial to Characterize Patients With Metastatic RCC Treated With Everolimus After Failure of the First VEGF-targeted Therapy (MARC-2) Active, not recruiting NCT01266837 Phase 4
23 Biological, Pathological and Imagery Markers in the First-line Treatment of Metastatic Clear-cell Renal Cell Carcinoma Terminated NCT00930345 Phase 4
24 Outcome-related Factors in Patients With Metastatic Renal Cell Carcinoma Treated With Everolimus (ORCHIDEE) Terminated NCT02338570 Phase 4
25 Cost Effectiveness Of Sunitinib In Central America And Caribbean Terminated NCT01033981 Phase 4
26 Phase IV Randomization to On-Going Treatment to Evaluate Sustained Sorafenib Terminated NCT00352859 Phase 4
27 Post Marketing Surveillance On The Safety And Tolerability Of Sunitinib Malate (Sutent) For Filipino Patients Terminated NCT01073644 Phase 4
28 Hydroxyethyl Starch and Renal Function After Laparoscopic Nephrectomy Terminated NCT01486550 Phase 4
29 Study to Observe Safety and Efficacy of Nexavar in Treatment of Kidney Cancer Withdrawn NCT01353794 Phase 4
30 A Post Marketing Surveillance As Required By Philippine Food And Drug Administration Withdrawn NCT01781442 Phase 4
31 Exercise for Patients With Renal Cell Cancer Receiving Sunitinib Unknown status NCT00869011 Phase 3
32 Comparison of Sequential Therapies With Sunitinib and Sorafenib in Advanced Renal Cell Carcinoma Unknown status NCT01481870 Phase 3
33 Chemotherapy Before and After Surgery in Treating Children With Wilm's Tumor Unknown status NCT00047138 Phase 3
34 Chemotherapy Plus Surgery in Treating Children at Risk of or With Stage I Wilms' Tumor Unknown status NCT00003804 Phase 3
35 Efficacy of RAD001/Everolimus in Autism and NeuroPsychological Deficits in Children With Tuberous Sclerosis Complex Unknown status NCT01730209 Phase 2, Phase 3
36 TroVax Renal Immunotherapy Survival Trial Completed NCT00397345 Phase 3
37 Sorafenib in Treating Patients at Risk of Relapse After Undergoing Surgery to Remove Kidney Cancer Completed NCT00492258 Phase 3
38 Fentanyl Sublingual Spray in Treating Patients With Breakthrough Cancer Pain Completed NCT00538850 Phase 3
39 Efficacy and Safety of Sorafenib in Advanced Renal Cell Carcinoma (RCC) Completed NCT00478114 Phase 3
40 AE-941 in Treating Patients With Metastatic Kidney Cancer Completed NCT00005995 Phase 3
41 Kidney-Sparing Surgery Compared With Kidney Removal in Treating Patients With Kidney Cancer Completed NCT00002473 Phase 3
42 Medroxyprogesterone or Interferon and/or Aldesleukin in Treating Patients With Metastatic Kidney Cancer Completed NCT00416429 Phase 3
43 Interleukin-2 in Treating Patients With Metastatic Kidney Cancer Completed NCT00018941 Phase 3
44 Interferon Alfa With or Without Isotretinoin in Treating Patients With Metastatic Kidney Cancer Completed NCT00002737 Phase 3
45 Interleukin-2 and Interferon in Treating Patients With Metastatic Kidney Cancer Completed NCT00416871 Phase 3
46 Interferon Alfa-2b With or Without Thalidomide in Treating Patients With Metastatic or Unresectable Kidney Cancer Completed NCT00005966 Phase 3
47 Interleukin-2, Interferon Alfa, and Fluorouracil Compared With Observation in Treating Patients Who Have Undergone Surgery for Kidney Cancer Completed NCT00053807 Phase 3
48 Interferon Alfa With or Without Interleukin-2 and Fluorouracil in Treating Patients With Advanced Metastatic Kidney Cancer Completed NCT00053820 Phase 3
49 Survival Study Of Oncophage® vs. Observation In Patients With Kidney Cancer Completed NCT00033904 Phase 3
50 Interferon Alfa-2b With or Without Bevacizumab in Treating Patients With Advanced Renal Cell Carcinoma (Kidney Cancer) Completed NCT00072046 Phase 3

Search NIH Clinical Center for Renal Cell Carcinoma, Papillary

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cochrane evidence based reviews: papillary renal cell carcinoma, sporadic

Genetic Tests for Renal Cell Carcinoma, Papillary

Genetic tests related to Renal Cell Carcinoma, Papillary:

id Genetic test Affiliating Genes
1 Renal Cell Carcinoma, Papillary, 1 29
2 Renal Cell Carcinoma, Xp11-Associated 29
3 Papillary Renal Cell Carcinoma 29
4 Papillary Renal Carcinoma 24 MET

Anatomical Context for Renal Cell Carcinoma, Papillary

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

39
Kidney, Brain, Prostate, Myeloid, Liver, Pancreas, Adipocyte

Publications for Renal Cell Carcinoma, Papillary

Articles related to Renal Cell Carcinoma, Papillary:

id Title Authors Year
1
Expression of AKR1C3 in renal cell carcinoma, papillary urothelial carcinoma, and Wilms' tumor. ( 20126582 )
2009

Variations for Renal Cell Carcinoma, Papillary

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

66 (show all 15)
id 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
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

ClinVar genetic disease variations for Renal Cell Carcinoma, Papillary:

6 (show all 24)
id Gene Variation Type Significance SNP ID Assembly Location
1 TP53 NM_000546.5(TP53): c.722C> T (p.Ser241Phe) single nucleotide variant Pathogenic/Likely pathogenic rs28934573 GRCh37 Chromosome 17, 7577559: 7577559
2 TP53 NM_000546.5(TP53): c.659A> C (p.Tyr220Ser) single nucleotide variant Pathogenic/Likely pathogenic rs121912666 GRCh37 Chromosome 17, 7578190: 7578190
3 HRAS NM_005343.3(HRAS): c.34G> A (p.Gly12Ser) single nucleotide variant Pathogenic/Likely pathogenic rs104894229 GRCh37 Chromosome 11, 534289: 534289
4 HRAS NM_005343.3(HRAS): c.35G> C (p.Gly12Ala) single nucleotide variant Pathogenic/Likely pathogenic rs104894230 GRCh37 Chromosome 11, 534288: 534288
5 HRAS NM_005343.3(HRAS): c.34G> T (p.Gly12Cys) single nucleotide variant Pathogenic/Likely pathogenic rs104894229 GRCh37 Chromosome 11, 534289: 534289
6 PIK3CA NM_006218.3(PIK3CA): c.1633G> A (p.Glu545Lys) single nucleotide variant Pathogenic/Likely pathogenic rs104886003 GRCh37 Chromosome 3, 178936091: 178936091
7 PIK3CA NM_006218.3(PIK3CA): c.1634A> G (p.Glu545Gly) single nucleotide variant Pathogenic/Likely pathogenic rs121913274 GRCh37 Chromosome 3, 178936092: 178936092
8 PIK3CA NM_006218.3(PIK3CA): c.1634A> C (p.Glu545Ala) single nucleotide variant Pathogenic/Likely pathogenic rs121913274 GRCh37 Chromosome 3, 178936092: 178936092
9 ERBB2 NM_001005862.2(ERBB2): c.2173_2174delTTinsCC (p.Leu725Pro) indel Pathogenic/Likely pathogenic rs121913469 GRCh37 Chromosome 17, 37880219: 37880220
10 MET NM_001127500.2(MET): c.3446T> C (p.Met1149Thr) single nucleotide variant Pathogenic rs121913668 GRCh37 Chromosome 7, 116418881: 116418881
11 MET NM_001127500.2(MET): c.3616G> T (p.Val1206Leu) single nucleotide variant Pathogenic rs121913669 GRCh37 Chromosome 7, 116422081: 116422081
12 MET NM_001127500.2(MET): c.3712G> A (p.Val1238Ile) single nucleotide variant Pathogenic/Likely pathogenic rs121913670 GRCh37 Chromosome 7, 116423383: 116423383
13 MET NM_001127500.2(MET): c.3736G> A (p.Asp1246Asn) single nucleotide variant Pathogenic/Likely pathogenic rs121913671 GRCh37 Chromosome 7, 116423407: 116423407
14 MET NM_001127500.2(MET): c.3743A> G (p.Tyr1248Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121913246 GRCh37 Chromosome 7, 116423414: 116423414
15 MET NM_001127500.2(MET): c.3637C> G (p.Leu1213Val) single nucleotide variant Pathogenic rs121913673 GRCh37 Chromosome 7, 116422102: 116422102
16 MET NM_001127500.2(MET): c.3335A> G (p.His1112Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121913243 GRCh37 Chromosome 7, 116417464: 116417464
17 BRAF NM_004333.4(BRAF): c.1799T> A (p.Val600Glu) single nucleotide variant Pathogenic/Likely pathogenic rs113488022 GRCh37 Chromosome 7, 140453136: 140453136
18 FGFR3 NM_000142.4(FGFR3): c.746C> G (p.Ser249Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121913483 GRCh37 Chromosome 4, 1803568: 1803568
19 FGFR3 NM_000142.4(FGFR3): c.1118A> G (p.Tyr373Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121913485 GRCh37 Chromosome 4, 1806099: 1806099
20 PIK3CA NM_006218.3(PIK3CA): c.1624G> A (p.Glu542Lys) single nucleotide variant Pathogenic/Likely pathogenic rs121913273 GRCh37 Chromosome 3, 178936082: 178936082
21 TP53 NM_000546.5(TP53): c.659A> G (p.Tyr220Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121912666 GRCh37 Chromosome 17, 7578190: 7578190
22 MTOR NM_004958.3(MTOR): c.6644C> T (p.Ser2215Phe) single nucleotide variant Pathogenic/Likely pathogenic rs587777894 GRCh38 Chromosome 1, 11124516: 11124516
23 PIK3CA NM_006218.3(PIK3CA): c.1635G> T (p.Glu545Asp) single nucleotide variant Pathogenic/Likely pathogenic rs121913275 GRCh37 Chromosome 3, 178936093: 178936093
24 PIK3CA NM_006218.3(PIK3CA): c.1633G> C (p.Glu545Gln) single nucleotide variant Pathogenic/Likely pathogenic rs104886003 GRCh37 Chromosome 3, 178936091: 178936091

Cosmic variations for Renal Cell Carcinoma, Papillary:

9 (show top 50) (show all 282)
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA Conf
1 COSM25676 VHL kidney,NS,carcinoma,renal cell c.485G>T p.C162F 78
2 COSM27269 UMPS kidney,NS,carcinoma,renal cell c.528G>A p.L176L 78
3 COSM30474 TRIO kidney,NS,carcinoma,renal cell c.9008A>G p.N3003S 78
4 COSM26594 RNF144A kidney,NS,carcinoma,renal cell c.410C>T p.A137V 78
5 COSM26987 RGS7 kidney,NS,carcinoma,renal cell c.169T>C p.F57L 78
6 COSM26614 RABGAP1 kidney,NS,carcinoma,renal cell c.1533T>A p.H511Q 78
7 COSM30530 PTPN22 kidney,NS,carcinoma,renal cell c.209G>C p.R70P 78
8 COSM27618 KMT2A kidney,NS,carcinoma,renal cell c.5711C>T p.A1904V 78
9 COSM30502 ITPR3 kidney,NS,carcinoma,renal cell c.4574G>T p.C1525F 78
10 COSM28415 DOCK1 kidney,NS,carcinoma,renal cell c.1306G>T p.D436Y 78
11 COSM30531 COPS4 kidney,NS,carcinoma,renal cell c.385G>C p.G129R 78
12 COSM25654 CDC5L kidney,NS,carcinoma,renal cell c.1196G>A p.R399Q 78
13 COSM30471 ARHGAP20 kidney,NS,carcinoma,renal cell c.1355A>G p.D452G 78
14 COSM5012058 ZNF462 kidney,NS,carcinoma,papillary renal cell carcinoma c.7085G>A p.R2362Q 54
15 COSM5010682 ZNF281 kidney,NS,carcinoma,papillary renal cell carcinoma c.2093C>T p.P698L 54
16 COSM5013462 ZNF225 kidney,NS,carcinoma,papillary renal cell carcinoma c.1187G>T p.G396V 54
17 COSM5011020 ZNF142 kidney,NS,carcinoma,papillary renal cell carcinoma c.3322G>T p.D1108Y 54
18 COSM5014655 ZBTB2 kidney,NS,carcinoma,papillary renal cell carcinoma c.931G>A p.E311K 54
19 COSM5012645 XPO4 kidney,NS,carcinoma,papillary renal cell carcinoma c.1218C>A p.F406L 54
20 COSM2888871 XKR7 kidney,NS,carcinoma,papillary renal cell carcinoma c.1409C>T p.T470M 54
21 COSM5012777 WDR89 kidney,NS,carcinoma,papillary renal cell carcinoma c.260C>A p.S87* 54
22 COSM18070 VHL kidney,NS,carcinoma,papillary renal cell carcinoma c.263G>A p.W88* 54
23 COSM18346 VHL kidney,NS,carcinoma,papillary renal cell carcinoma c.341G>C p.G114A 54
24 COSM17808 VHL kidney,NS,carcinoma,papillary renal cell carcinoma c.443T>C p.F148S 54
25 COSM30286 VHL kidney,NS,carcinoma,papillary renal cell carcinoma c.473T>G p.L158R 54
26 COSM25670 VHL kidney,NS,carcinoma,papillary renal cell carcinoma c.556G>T p.E186* 54
27 COSM14311 VHL kidney,NS,carcinoma,papillary renal cell carcinoma c.499C>T p.R167W 54
28 COSM17807 VHL kidney,NS,carcinoma,papillary renal cell carcinoma c.264G>C p.W88C 54
29 COSM17917 VHL kidney,NS,carcinoma,papillary renal cell carcinoma c.523T>G p.Y175D 54
30 COSM5015677 VAPB kidney,NS,carcinoma,papillary renal cell carcinoma c.149G>A p.R50H 54
31 COSM30316 USP24 kidney,NS,carcinoma,papillary renal cell carcinoma c.5867A>G p.Y1956C 54
32 COSM5011185 UROC1 kidney,NS,carcinoma,papillary renal cell carcinoma c.401A>G p.N134S 54
33 COSM30400 UBR4 kidney,NS,carcinoma,papillary renal cell carcinoma c.8588C>T p.A2863V 54
34 COSM5015711 TXNRD2 kidney,NS,carcinoma,papillary renal cell carcinoma c.1017G>T p.Q339H 54
35 COSM5017221 TRRAP kidney,NS,carcinoma,papillary renal cell carcinoma c.5182A>G p.I1728V 54
36 COSM43697 TP53 kidney,NS,carcinoma,papillary renal cell carcinoma c.832C>A p.P278T 54
37 COSM10662 TP53 kidney,NS,carcinoma,papillary renal cell carcinoma c.743G>A p.R248Q 54
38 COSM5011074 TOP2B kidney,NS,carcinoma,papillary renal cell carcinoma c.2758C>A p.Q920K 54
39 COSM5013213 TBX4 kidney,NS,carcinoma,papillary renal cell carcinoma c.1190C>A p.S397* 54
40 COSM5014650 STXBP5 kidney,NS,carcinoma,papillary renal cell carcinoma c.2581C>T p.R861W 54
41 COSM5011198 STAG1 kidney,NS,carcinoma,papillary renal cell carcinoma c.565T>G p.C189G 54
42 COSM5015061 SRPRA kidney,NS,carcinoma,papillary renal cell carcinoma c.1249C>T p.R417C 54
43 COSM5012130 SPAG6 kidney,NS,carcinoma,papillary renal cell carcinoma c.74C>T p.A25V 54
44 COSM5014245 SOWAHC kidney,NS,carcinoma,papillary renal cell carcinoma c.782C>T p.S261F 54
45 COSM5012458 SLC6A12 kidney,NS,carcinoma,papillary renal cell carcinoma c.1451A>G p.N484S 54
46 COSM1226505 SLC6A1 kidney,NS,carcinoma,papillary renal cell carcinoma c.1736G>A p.R579H 54
47 COSM5014999 SLC39A13 kidney,NS,carcinoma,papillary renal cell carcinoma c.956G>A p.G319D 54
48 COSM5012307 SLC17A6 kidney,NS,carcinoma,papillary renal cell carcinoma c.1558C>A p.H520N 54
49 COSM5011214 SKIL kidney,NS,carcinoma,papillary renal cell carcinoma c.63G>T p.M21I 54
50 COSM5014564 SIRT5 kidney,NS,carcinoma,papillary renal cell carcinoma c.240G>A p.W80* 54

Expression for Renal Cell Carcinoma, Papillary

LifeMap Discovery
Genes differentially expressed in tissues of Renal Cell Carcinoma, Papillary patients vs. healthy controls: 35 (show top 50) (show all 207)
id Gene Description Tissue Up/Dn Fold Change (log2) P value
1 KCNJ1 potassium channel, inwardly rectifying subfamily J, member 1 Kidney - 9.09 0.000
2 FABP1 fatty acid binding protein 1, liver Kidney - 8.85 0.000
3 SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member 1 Kidney - 8.84 0.000
4 CALB1 calbindin 1, 28kDa Kidney - 8.67 0.000
5 SCNN1G sodium channel, non voltage gated 1 gamma subunit Kidney - 8.58 0.000
6 ALDOB aldolase B, fructose-bisphosphate Kidney - 8.53 0.000
7 CLDN8 claudin 8 Kidney - 8.44 0.000
8 HPD 4-hydroxyphenylpyruvate dioxygenase Kidney - 8.06 0.000
9 MUC15 mucin 15, cell surface associated Kidney - 7.91 0.000
10 KNG1 kininogen 1 Kidney - 7.82 0.000
11 EGF epidermal growth factor Kidney - 7.81 0.000
12 FXYD4 FXYD domain containing ion transport regulator 4 Kidney - 7.68 0.000
13 GSTA1 glutathione S-transferase alpha 1 Kidney - 7.61 0.000
14 NPHS2 nephrosis 2, idiopathic, steroid-resistant (podocin) Kidney - 7.60 0.000
15 G6PC glucose-6-phosphatase, catalytic subunit Kidney - 7.50 0.000
16 SLC7A13 solute carrier family 7 (anionic amino acid transporter), member 13 Kidney - 7.32 0.000
17 HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) Kidney - 7.22 0.000
18 RALYL RALY RNA binding protein-like Kidney - 7.10 0.000
19 HSD11B2 hydroxysteroid (11-beta) dehydrogenase 2 Kidney - 7.08 0.000
20 FAM151A family with sequence similarity 151, member A Kidney - 7.08 0.000
21 DNASE1 deoxyribonuclease I Kidney - 7.00 0.000
22 TMEM52B transmembrane protein 52B Kidney - 6.94 0.000
23 KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10 Kidney - 6.93 0.000
24 IRX2 iroquois homeobox 2 Kidney - 6.90 0.000
25 PVALB parvalbumin Kidney - 6.66 0.000
26 APOC1 apolipoprotein C-I Kidney + 6.64 0.000
27 SLC13A3 solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 Kidney - 6.60 0.000
28 SLC26A7 solute carrier family 26 (anion exchanger), member 7 Kidney - 6.51 0.000
29 SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group) Kidney - 6.51 0.000
30 TYRP1 tyrosinase-related protein 1 Kidney - 6.46 0.000
31 UPB1 ureidopropionase, beta Kidney - 6.39 0.000
32 CYP4A11 cytochrome P450, family 4, subfamily A, polypeptide 11 Kidney - 6.38 0.000
33 SOST sclerostin Kidney - 6.35 0.000
34 HEPACAM2 HEPACAM family member 2 Kidney - 6.33 0.000
35 UMOD uromodulin Kidney - 6.21 0.000
36 SCNN1B sodium channel, non voltage gated 1 beta subunit Kidney - 6.21 0.000
37 SLC22A6 solute carrier family 22 (organic anion transporter), member 6 Kidney - 6.19 0.000
38 GC group-specific component (vitamin D binding protein) Kidney - 6.19 0.000
39 MFSD4 major facilitator superfamily domain containing 4 Kidney - 6.19 0.000
40 PDE1A phosphodiesterase 1A, calmodulin-dependent Kidney - 6.18 0.002
41 GPC5 glypican 5 Kidney - 6.17 0.000
42 SFRP1 secreted frizzled-related protein 1 Kidney - 6.11 0.000
43 MPPED2 metallophosphoesterase domain containing 2 Kidney - 6.07 0.000
44 HS6ST2 heparan sulfate 6-O-sulfotransferase 2 Kidney - 6.06 0.004
45 SLC22A8 solute carrier family 22 (organic anion transporter), member 8 Kidney - 6.04 0.000
46 WNK4 WNK lysine deficient protein kinase 4 Kidney - 6.03 0.000
47 RHCG Rh family, C glycoprotein Kidney - 6.01 0.000
48 CRHBP corticotropin releasing hormone binding protein Kidney - 5.99 0.000
49 EHF ets homologous factor Kidney - 5.98 0.000
50 C16orf89 chromosome 16 open reading frame 89 Kidney - 5.97 0.000
Search GEO for disease gene expression data for Renal Cell Carcinoma, Papillary.

Pathways for Renal Cell Carcinoma, Papillary

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

id Super pathways Score Top Affiliating Genes
1 12.02 AMACR ASPSCR1 CA9 FH
2 11.95 FH KIT MET MITF PAX8
3 11.28 ASPSCR1 MET PAX8 PRCC TFE3
4 11.14 MITF TFE3 TFEB

GO Terms for Renal Cell Carcinoma, Papillary

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

id Name GO ID Score Top Affiliating Genes
1 paraspeckles GO:0042382 8.62 NONO SFPQ

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

id Name GO ID Score Top Affiliating Genes
1 melanocyte differentiation GO:0030318 8.96 KIT MITF
2 regulation of osteoclast differentiation GO:0045670 8.62 MITF TFE3

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

id Name GO ID Score Top Affiliating Genes
1 transcription regulatory region DNA binding GO:0044212 8.92 PAX8 SFPQ TFE3 TFEB

Sources for Renal Cell Carcinoma, Papillary

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