CRCC
MCID: CHR177
MIFTS: 56

Chromophobe Renal Cell Carcinoma (CRCC) malady

Categories: Rare diseases, Nephrological diseases, Cancer diseases

Aliases & Classifications for Chromophobe Renal Cell Carcinoma

Aliases & Descriptions for Chromophobe Renal Cell Carcinoma:

Name: Chromophobe Renal Cell Carcinoma 38 12 50 56 14 69
Renal Cell Carcinoma, Chromophobe Cell 12
Chromophobe Renal Cell Adenocarcinoma 56
Chromophobe Carcinoma of Kidney 12
Chromophobe Adenocarcinoma 12
Chromophobe Carcinoma 69
Kidney Chromophobe 12
Chrcc 50
Crcc 50

Classifications:

Orphanet: 56  
Rare renal diseases


External Ids:

Disease Ontology 12 DOID:4471
MeSH 42 D002292
NCIt 47 C4146
SNOMED-CT 64 128667008
Orphanet 56 ORPHA319303
UMLS via Orphanet 70 C1266042
ICD10 via Orphanet 34 C64
UMLS 69 C1266042

Summaries for Chromophobe Renal Cell Carcinoma

NIH Rare Diseases : 50 chromophobe renal cell carcinoma is a rare subtype of the most common form of kidney cancer called renal cell carcinoma (rcc). this type of cancer forms in the cells lining the small tubules in the kidney. these tubules help filter waste from the blood, making urine. chromophobe rcc accounts for about 5% of all rcc cases, and it is frequently diagnosed between ages 40 and 50. it is typically diagnosed in stage i or stage ii, and has an overall better prognosis than other types of rcc. treatment generally involves surgery. last updated: 7/1/2015

MalaCards based summary : Chromophobe Renal Cell Carcinoma, also known as renal cell carcinoma, chromophobe cell, is related to eosinophilic variant of chromophobe renal cell carcinoma and classic variant of chromophobe renal cell carcinoma, and has symptoms including flank pain An important gene associated with Chromophobe Renal Cell Carcinoma is FLCN (Folliculin), and among its related pathways/superpathways are Developmental Biology and Keratinization. The drugs Sorafenib and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include kidney, brain and liver, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and growth/size/body region

Disease Ontology : 12 A renal cell carcinoma that has material basis in chromophobe cell that appear pale when viewed under microscope, but that are larger and display different features than clear cells.

Related Diseases for Chromophobe Renal Cell Carcinoma

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

(show top 50) (show all 60)
id Related Disease Score Top Affiliating Genes
1 eosinophilic variant of chromophobe renal cell carcinoma 12.3
2 classic variant of chromophobe renal cell carcinoma 12.1
3 renal cell carcinoma 11.8
4 birt-hogg-dube syndrome 11.4
5 renal cell carcinoma, papillary 11.1
6 renal oncocytoma 10.6
7 infiltrating lipoma 10.3 CCND1 S100A1
8 skin amelanotic melanoma 10.2 KRT7 MME
9 paranasal sinus cancer 10.2 KIT KRT7 MME
10 occipital encephalocele 10.2 KRT18 KRT8
11 envenomization by bothrops lanceolatus 10.2 KRT7 KRT8
12 wells syndrome 10.2 KIT KRT18 KRT7
13 woolly hair, autosomal dominant 10.2 KRT18 KRT8
14 middle ear adenocarcinoma 10.2 KIT KRT7 KRT8
15 basophilic carcinoma 10.2 EPCAM KRT7 S100A1
16 popliteal pterygium syndrome, bartsocas-papas type 10.2 CCND1 KIT S100A1
17 endocrine organ benign neoplasm 10.2 KIT KRT7 MME
18 proteus-like syndrome 10.2 KRT18 KRT7 KRT8
19 fallopian tube mucinous tumor 10.2 KRT7 MME
20 advanced sleep phase syndrome 10.2 CCND1 KIT KRT7
21 bartholin's gland adenoid cystic carcinoma 10.2 KRT18 KRT7 KRT8
22 ovarian embryonal carcinoma 10.2 KIT KRT18 KRT8
23 distal arthrogryposis 10.2 KRT18 KRT7 KRT8
24 gallbladder cancer 10.2 CDH16 FLCN KIT MME
25 malignant adult ependymoma 10.2 KRT18 KRT7 KRT8
26 clear cell renal cell carcinoma 10.1
27 diffuse idiopathic skeletal hyperostosis 10.1 KRT7 MME
28 psoriasis susceptibility 13 10.1 FLCN HNF1B KRT7
29 13q12.3 microdeletion syndrome 10.1 CCND1 S100A1 TGFB1
30 amyloidosis, hereditary, transthyretin-related 10.1 KIT KRT7 KRT8
31 mongolian spot 10.1 KRT18 KRT7 KRT8 S100A1
32 malignant pleural solitary fibrous tumor 10.1 CCND1 KIT KRT7 MME
33 sarcomatoid mesothelioma 10.1 KRT18 KRT7 KRT8 MME
34 nodular tenosynovitis 10.1 KRT18 KRT7 KRT8 MME
35 thyroid carcinoma, papillary, with papillary renal neoplasia 10.1 CDH16 FLCN KIT KRT7 MME
36 progesterone-receptor positive breast cancer 10.1 CCND1 CLDN7 KRT8
37 dysembryoplastic neuroepithelial tumor 10.0 KRT18 KRT7 KRT8
38 lipoadenoma 10.0 CDH16 FLCN KIT KRT8 MME
39 testicular cancer 10.0 CCND1 EPCAM KIT KRT7
40 purpura 10.0
41 neuroendocrine tumor 10.0
42 gastroesophageal junction adenocarcinoma 9.9 CCND1 EPCAM KRT7
43 proctitis 9.9 CCND1 EPCAM KIT KRT7 TGFB1
44 adenocarcinoma 9.9
45 cystic kidney disease 9.8
46 collecting duct carcinoma 9.8
47 kidney disease 9.8
48 chondrosarcoma 9.8
49 thyroiditis 9.8
50 hepatitis 9.8

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



Diseases related to Chromophobe Renal Cell Carcinoma

Symptoms & Phenotypes for Chromophobe Renal Cell Carcinoma

UMLS symptoms related to Chromophobe Renal Cell Carcinoma:


flank pain

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.5 TGFB1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-154 9.5 KRT18
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-17 9.5 KRT18
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-180 9.5 KRT8
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-33 9.5 KRT18
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 9.5 KRT8
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-68 9.5 KRT7
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-71 9.5 KRT18 KRT7 KRT8 TGFB1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 9.5 KRT7
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-77 9.5 TGFB1
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-84 9.5 KRT18
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.5 KRT7

MGI Mouse Phenotypes related to Chromophobe Renal Cell Carcinoma:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.25 CAV1 CCND1 CLDN7 CLDN8 EPCAM FLCN
2 homeostasis/metabolism MP:0005376 10.24 CAV1 CCND1 CLDN7 CLDN8 EPCAM FLCN
3 hematopoietic system MP:0005397 10.1 TGFB1 CAV1 CCND1 CLDN7 EPCAM FLCN
4 embryo MP:0005380 10.06 KRT18 KRT8 PRSS8 TGFB1 EPCAM FLCN
5 immune system MP:0005387 10.06 CAV1 CCND1 EPCAM FLCN HNF1B KIT
6 digestive/alimentary MP:0005381 10.02 CAV1 CCND1 EPCAM HNF1A KIT KRT8
7 integument MP:0010771 9.86 CAV1 CCND1 CLDN7 HNF1A KIT MME
8 mortality/aging MP:0010768 9.77 CAV1 CCND1 CLDN7 EPCAM FLCN HNF1A
9 liver/biliary system MP:0005370 9.76 CAV1 HNF1A HNF1B KIT KRT18 KRT8
10 renal/urinary system MP:0005367 9.28 CLDN8 FLCN HNF1A HNF1B KIT KRT7

Drugs & Therapeutics for Chromophobe Renal Cell Carcinoma

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

(show all 29)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sorafenib Approved, Investigational Phase 1, Phase 2 284461-73-0 216239 406563
2
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
3
Everolimus Approved Phase 2 159351-69-6 6442177
4
Sunitinib Approved, Investigational Phase 2 341031-54-7, 557795-19-4 5329102
5
Bevacizumab Approved, Investigational Phase 1, Phase 2 216974-75-3
6
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030 46835353
7
Niacin Approved, Investigational, Nutraceutical Phase 1, Phase 2 59-67-6 938
8
Nicotinamide Approved, Nutraceutical Phase 1, Phase 2 98-92-0 936
9
Folic Acid Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 59-30-3 6037
10
Epothilone B Experimental, Investigational Phase 2 152044-54-7
11 Epothilones Phase 2
12 Nicotinic Acids Phase 1, Phase 2
13 Trace Elements Phase 1, Phase 2
14 Angiogenesis Inhibitors Phase 1, Phase 2
15 Angiogenesis Modulating Agents Phase 1, Phase 2
16 Vitamin B Complex Phase 1, Phase 2
17 Anti-Bacterial Agents Phase 2
18 Vitamins Phase 1, Phase 2
19 Anti-Infective Agents Phase 2
20 Immunosuppressive Agents Phase 2
21 Protein Kinase Inhibitors Phase 1, Phase 2
22 Antifungal Agents Phase 2
23 Antibiotics, Antitubercular Phase 2
24 Antimitotic Agents Phase 2
25 Micronutrients Phase 1, Phase 2
26
Lactitol Phase 2 585-86-4 3871
27 Folate Nutraceutical Phase 1, Phase 2
28 Vitamin B3 Nutraceutical Phase 1, Phase 2
29 Vitamin B9 Nutraceutical Phase 1, Phase 2

Interventional clinical trials:

(show all 11)
id Name Status NCT ID Phase
1 Sorafenib Tosylate and Bevacizumab in Treating Patients With Advanced Kidney Cancer Completed NCT00126503 Phase 1, Phase 2
2 Phase II Study of Afinitor vs. Sutent in Patients With Metastatic Non-Clear Cell Renal Cell Carcinoma Completed NCT01108445 Phase 2
3 pazopanib_NCRCC,Ph2 STUDY Completed NCT01538238 Phase 2
4 Sunitinib Malate in Patients With Non-Clear Cell Renal Cell Cancer Completed NCT00465179 Phase 2
5 EPO906 Therapy in Patients With Advanced Kidney Cancer Completed NCT00035243 Phase 2
6 Everolimus Therapy in People With Birt-Hogg-Dube Syndrome (BHD)-Associated Kidney Cancer or Sporadic Chromophobe Renal Cancer Recruiting NCT02504892 Phase 2
7 Pazopanib Hydrochloride in Treating Patients With Metastatic Kidney Cancer Recruiting NCT01767636 Phase 2
8 Everolimus Versus Sunitinib in Non-Clear Cell Renal Cell Carcinoma Active, not recruiting NCT01185366 Phase 2
9 UNISoN: anzUp Nivo Then Ipi+Nivo in Sequential Non-clear Cell. Not yet recruiting NCT03177239 Phase 2
10 A Study Evaluating the Safety, Pharmacokinetics and Anti-Tumor Activity of ABBV-176 in Subjects With Advanced Solid Tumors Likely to Express Prolactin Receptor (PRLR) Not yet recruiting NCT03145909 Phase 1
11 Evaluation of Diagnostic Value of Molecular Markers in Renal Cancer Terminated NCT00491621

Search NIH Clinical Center for Chromophobe Renal Cell Carcinoma

Genetic Tests for Chromophobe Renal Cell Carcinoma

Anatomical Context for Chromophobe Renal Cell Carcinoma

MalaCards organs/tissues related to Chromophobe Renal Cell Carcinoma:

39
Kidney, Brain, Liver, T Cells, Myeloid, B Cells, Pituitary

Publications for Chromophobe Renal Cell Carcinoma

Articles related to Chromophobe Renal Cell Carcinoma:

(show top 50) (show all 240)
id Title Authors Year
1
c-Met in chromophobe renal cell carcinoma. ( 28035577 )
2017
2
Dysfunctional miRNA-Mediated Regulation in Chromophobe Renal Cell Carcinoma. ( 27258182 )
2016
3
Selected tumor markers in the routine diagnosis of chromophobe renal cell carcinoma. ( 27478468 )
2016
4
Outcome of Patients With Metastatic Chromophobe Renal Cell Carcinoma Treated With Sunitinib. ( 27382030 )
2016
5
Chromophobe renal cell carcinoma occurring in the renal allograft of a transplant recipient presenting with weight loss. ( 26787581 )
2016
6
An atypical case of dermatomyositis associated with chromophobe renal cell carcinoma. ( 26786527 )
2016
7
Does chromophobe renal cell carcinoma have better survival than clear cell renal cell carcinoma? A clinical-based cohort study and meta-analysis. ( 26589610 )
2016
8
Chromophobe renal cell carcinoma mimicking cortical invasion by synchronous invasive urothelial carcinoma of the intra-renal collecting system on CT urography. ( 27256197 )
2016
9
Antitumor Response to Combined Antiangiogenic and Cytotoxic Chemotherapy in Recurrent Metastatic Chromophobe Renal Cell Carcinoma: Response Signatures and Proteomic Correlates. ( 26684814 )
2016
10
Rare Case of Hybrid Oncocytoma and Chromophobe Renal Cell Carcinoma in a Pediatric Patient. ( 26718018 )
2016
11
A systematic review and meta-analysis of immunohistochemical biomarkers that differentiate chromophobe renal cell carcinoma from renal oncocytoma. ( 26951082 )
2016
12
Morphological, immunohistochemical, and chromosomal analysis of multicystic chromophobe renal cell carcinoma, an architecturally unusual challenging variant. ( 27631338 )
2016
13
Fluorescent and chromogenic in situ hybridization of CEN17q as a potent useful diagnostic marker for Birt-Hogg-DubAc syndrome-associated chromophobe renal cell carcinomas. ( 26980015 )
2016
14
Sarcomatoid Transrormation of Chromophobe Renal Cell Carcinoma. ( 26870150 )
2016
15
Metastatic chromophobe renal cell carcinoma to the brain. ( 26589090 )
2016
16
Genetic alterations of HER genes in chromophobe renal cell carcinoma. ( 26998131 )
2016
17
Biomarker and competing endogenous RNA potential of tumor-specific long noncoding RNA in chromophobe renal cell carcinoma. ( 27799788 )
2016
18
PD-1/PD-L1 expression in chromophobe renal cell carcinoma: An immunological exception? ( 27696122 )
2016
19
Robot-assisted heminephrectomy for chromophobe renal cell carcinoma in L-shaped fused crossed ectopia: Surgical challenge. ( 26495075 )
2015
20
Comparative study of CT appearances in renal oncocytoma and chromophobe renal cell carcinoma. ( 25972369 )
2015
21
BSND and ATP6V1G3: Novel Immunohistochemical Markers for Chromophobe Renal Cell Carcinoma. ( 26091477 )
2015
22
DOG1, cyclin D1, CK7, CD117 and vimentin are useful immunohistochemical markers in distinguishing chromophobe renal cell carcinoma from clear cell renal cell carcinoma and renal oncocytoma. ( 25596994 )
2015
23
Chromophobe renal cell carcinoma, eosinophilic variant with papillary growth: a case report. ( 26722580 )
2015
24
Chromophobe renal cell carcinoma with neuroendocrine and neuroendocrine-like features. Morphologic, immunohistochemical, ultrastructural, and array comparative genomic hybridization analysis of 18 cases and review of the literature. ( 26031603 )
2015
25
Resection of bulky chromophobe renal cell carcinoma resolved severe idiopathic thrombocytopenic purpura: A case report. ( 26354444 )
2015
26
Genomics of chromophobe renal cell carcinoma: implications from a rare tumor for pan-cancer studies. ( 25859550 )
2015
27
Editorial Comment to Resection of bulky chromophobe renal cell carcinoma resolved severe idiopathic thrombocytopenic purpura: A case report. ( 26394806 )
2015
28
Eosinophilic variant of chromophobe renal cell carcinoma. ( 25552800 )
2015
29
Sarcomatoid chromophobe renal cell carcinoma: A rare entity with prognostic significance. ( 26881614 )
2015
30
Chromophobe renal cell carcinoma of the kidney with neuroendocrine differentiation: A case report with review of literature. ( 26229333 )
2015
31
Chromophobe Renal Cell Carcinoma is the Most Common Nonclear Renal Cell Carcinoma in Young Women: Results from the SEER Database. ( 26555952 )
2015
32
Chromophobe renal cell carcinoma, oncocytic variant: Cytological and ultrastructural observations. ( 26729980 )
2015
33
Chromophobe renal cell carcinoma with and without sarcomatoid change: a clinicopathological, comparative genomic hybridization, and whole-exome sequencing study. ( 26807193 )
2015
34
Chromophobe renal cell carcinoma recurrence in the ureter: A late presentation of a rare metastasis. ( 26425244 )
2015
35
HNF1I^ and S100A1 are useful biomarkers for distinguishing renal oncocytoma and chromophobe renal cell carcinoma in FNA and core needle biopsies. ( 25739652 )
2015
36
MicroRNA expression profiles predict clinical phenotypes and prognosis in chromophobe renal cell carcinoma. ( 25981392 )
2015
37
TGF-I^1 expression in chromophobe renal cell carcinoma and renal oncocytoma. ( 24704995 )
2014
38
Relating prognosis in chromophobe renal cell carcinoma to the chromophobe tumor grading system. ( 24741411 )
2014
39
Immunohistochemical Analysis of Cytochrome c Oxidase Facilitates Differentiation Between Oncocytoma and Chromophobe Renal Cell Carcinoma. ( 25265428 )
2014
40
C-kit overexpression is not associated with KIT gene mutations in chromophobe renal cell carcinoma or renal oncocytoma. ( 24875296 )
2014
41
Composite chromophobe renal cell carcinoma with sarcomatoid differentiation containing osteosarcoma, chondrosarcoma, squamous metaplasia and associated collecting duct carcinoma: a case report. ( 25291862 )
2014
42
Omental Nodular Deposits of Recurrent Chromophobe Renal Cell Carcinoma Seen on FDG-PET/CT. ( 25337437 )
2014
43
Chromophobe renal cell carcinoma with sarcomatoid changes: case report and review of literature. ( 24982777 )
2014
44
The somatic genomic landscape of chromophobe renal cell carcinoma. ( 25155756 )
2014
45
Chromophobe renal cell carcinoma associated with eosinophilia: A report of three cases. ( 24944603 )
2014
46
Genomic profiling provides insight into chromophobe renal cell carcinoma. ( 25367957 )
2014
47
Clinical behavior of chromophobe renal cell carcinoma is less aggressive than that of clear cell renal cell carcinoma, independent of Fuhrman grade or tumor size. ( 25178561 )
2014
48
Monocyte-derived dendritic cells reflect the immune functional status of a chromophobe renal cell carcinoma patient: Could it be a general phenomenon? ( 25314913 )
2014
49
The Fuhrman grading system has no prognostic value in patients with nonsarcomatoid chromophobe renal cell carcinoma. ( 25305793 )
2014
50
Lymphangitic retroperitoneal carcinomatosis occurring from metastatic sarcomatoid chromophobe renal cell carcinoma. ( 24696789 )
2014

Variations for Chromophobe Renal Cell Carcinoma

ClinVar genetic disease variations for Chromophobe Renal Cell Carcinoma:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 FLCN FLCN, 2-BP DEL, 1284TC AND 2-BP INS, 1284AC indel Pathogenic
2 HNF1B NM_000458.3(HNF1B): c.46delC (p.Leu16Cysfs) deletion Pathogenic rs587776771 GRCh37 Chromosome 17, 36104830: 36104830
3 HNF1A NM_000545.6(HNF1A): c.92G> A (p.Gly31Asp) single nucleotide variant Pathogenic rs137853247 GRCh37 Chromosome 12, 121416663: 121416663

Cosmic variations for Chromophobe Renal Cell Carcinoma:

9 (show all 47)
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 22
2 COSM27269 UMPS kidney,NS,carcinoma,renal cell c.528G>A p.L176L 22
3 COSM30474 TRIO kidney,NS,carcinoma,renal cell c.9008A>G p.N3003S 22
4 COSM26594 RNF144A kidney,NS,carcinoma,renal cell c.410C>T p.A137V 22
5 COSM26987 RGS7 kidney,NS,carcinoma,renal cell c.169T>C p.F57L 22
6 COSM26614 RABGAP1 kidney,NS,carcinoma,renal cell c.1533T>A p.H511Q 22
7 COSM30530 PTPN22 kidney,NS,carcinoma,renal cell c.209G>C p.R70P 22
8 COSM27618 KMT2A kidney,NS,carcinoma,renal cell c.5711C>T p.A1904V 22
9 COSM30502 ITPR3 kidney,NS,carcinoma,renal cell c.4574G>T p.C1525F 22
10 COSM28415 DOCK1 kidney,NS,carcinoma,renal cell c.1306G>T p.D436Y 22
11 COSM30531 COPS4 kidney,NS,carcinoma,renal cell c.385G>C p.G129R 22
12 COSM25654 CDC5L kidney,NS,carcinoma,renal cell c.1196G>A p.R399Q 22
13 COSM30471 ARHGAP20 kidney,NS,carcinoma,renal cell c.1355A>G p.D452G 22
14 COSM26615 TMEM74 kidney,NS,renal cell carcinoma,chromophobe c.289C>T p.R97W 21
15 COSM25714 PGM1 kidney,NS,renal cell carcinoma,chromophobe c.962C>T p.P321L 21
16 COSM26593 PC kidney,NS,renal cell carcinoma,chromophobe c.2525G>A p.R842Q 21
17 COSM26986 NCAPD2 kidney,NS,renal cell carcinoma,chromophobe c.2092C>T p.R698C 21
18 COSM28440 MYBL2 kidney,NS,renal cell carcinoma,chromophobe c.1249C>T p.R417C 21
19 COSM25667 MMP3 kidney,NS,renal cell carcinoma,chromophobe c.946C>T p.R316C 21
20 COSM26590 KALRN kidney,NS,renal cell carcinoma,chromophobe c.236G>A p.R79H 21
21 COSM28464 GDF11 kidney,NS,renal cell carcinoma,chromophobe c.935G>A p.R312H 21
22 COSM26995 ESRRG kidney,NS,renal cell carcinoma,chromophobe c.122C>T p.T41M 21
23 COSM26613 BRINP3 kidney,NS,renal cell carcinoma,chromophobe c.346C>T p.R116C 21
24 COSM30472 ARHGEF11 kidney,NS,renal cell carcinoma,chromophobe c.583-1G>A p.? 21
25 COSM18028 VHL kidney,NS,carcinoma,chromophobe renal cell carcinoma c.257C>T p.P86L 16
26 COSM17806 VHL kidney,NS,carcinoma,chromophobe renal cell carcinoma c.333C>T p.S111S 16
27 COSM45322 TP53 kidney,NS,carcinoma,chromophobe renal cell carcinoma c.757A>G p.T253A 16
28 COSM11450 TP53 kidney,NS,carcinoma,chromophobe renal cell carcinoma c.644G>T p.S215I 16
29 COSM43697 TP53 kidney,NS,carcinoma,chromophobe renal cell carcinoma c.832C>A p.P278T 16
30 COSM11071 TP53 kidney,NS,carcinoma,chromophobe renal cell carcinoma c.1009C>T p.R337C 16
31 COSM10659 TP53 kidney,NS,carcinoma,chromophobe renal cell carcinoma c.817C>T p.R273C 16
32 COSM30368 KMT2D kidney,NS,carcinoma,chromophobe renal cell carcinoma c.960C>T p.C320C 16
33 COSM30365 KMT2D kidney,NS,carcinoma,chromophobe renal cell carcinoma c.9236T>C p.M3079T 16
34 COSM20745 IGF1R kidney,NS,carcinoma,chromophobe renal cell carcinoma c.313G>C p.V105L 16
35 COSM17957 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.292T>G p.Y98D 13
36 COSM17875 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.234T>G p.N78K 13
37 COSM14305 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.266T>A p.L89H 13
38 COSM14389 VHL kidney,NS,renal cell carcinoma,chromophobe cell c.452T>G p.I151S 13
39 COSM17983 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.500G>A p.R167Q 13
40 COSM14312 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.353T>C p.L118P 13
41 COSM14425 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.341-2A>T p.? 13
42 COSM14382 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.245G>C p.R82P 13
43 COSM26002 TAF2 kidney,NS,renal cell carcinoma,chromophobe cell c.851T>G p.L284R 13
44 COSM52899 PBRM1 kidney,NS,carcinoma,renal cell carcinoma unclassified c.3805A>T p.K1269* 13
45 COSM30526 NFYC kidney,NS,renal cell carcinoma,chromophobe cell c.519C>G p.I173M 13
46 COSM28454 KDM5C kidney,NS,renal cell carcinoma,chromophobe cell c.1933G>T p.E645* 13
47 COSM26014 CUL3 kidney,NS,renal cell carcinoma,chromophobe cell c.608A>T p.E203V 13

Expression for Chromophobe Renal Cell Carcinoma

LifeMap Discovery
Genes differentially expressed in tissues of Chromophobe Renal Cell Carcinoma patients vs. healthy controls: 35 (show top 50) (show all 297)
id Gene Description Tissue Up/Dn Fold Change (log2) P value
1 SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member 1 Kidney - 10.96 0.000
2 NAT8 N-acetyltransferase 8 (GCN5-related, putative) Kidney - 9.85 0.000
3 CALB1 calbindin 1, 28kDa Kidney - 9.44 0.000
4 GLYAT glycine-N-acyltransferase Kidney - 9.24 0.000
5 KCNJ16 potassium channel, inwardly rectifying subfamily J, member 16 Kidney - 9.21 0.000
6 FABP1 fatty acid binding protein 1, liver Kidney - 8.95 0.000
7 MIOX myo-inositol oxygenase Kidney - 8.89 0.000
8 PLG plasminogen Kidney - 8.67 0.000
9 NPHS2 nephrosis 2, idiopathic, steroid-resistant (podocin) Kidney - 8.34 0.000
10 CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) Kidney + 8.22 0.000
11 G6PC glucose-6-phosphatase, catalytic subunit Kidney - 8.14 0.000
12 SLC16A9 solute carrier family 16, member 9 Kidney - 8.05 0.000
13 ACMSD aminocarboxymuconate semialdehyde decarboxylase Kidney - 8.04 0.000
14 ALDOB aldolase B, fructose-bisphosphate Kidney - 8.03 0.000
15 GSTA1 glutathione S-transferase alpha 1 Kidney - 8.01 0.000
16 SCNN1G sodium channel, non voltage gated 1 gamma subunit Kidney - 7.85 0.000
17 HS6ST2 heparan sulfate 6-O-sulfotransferase 2 Kidney - 7.84 0.000
18 PDZK1IP1 PDZK1 interacting protein 1 Kidney - 7.83 0.000
19 TSPAN8 tetraspanin 8 Kidney - 7.82 0.000
20 BHMT betaine--homocysteine S-methyltransferase Kidney - 7.75 0.000
21 FMO1 flavin containing monooxygenase 1 Kidney - 7.57 0.000
22 BBOX1 butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1 Kidney - 7.57 0.000
23 DZIP1 DAZ interacting zinc finger protein 1 Kidney - 7.56 0.000
24 RNF128 ring finger protein 128, E3 ubiquitin protein ligase Kidney - 7.53 0.000
25 ANPEP alanyl (membrane) aminopeptidase Kidney - 7.51 0.000
26 MUC15 mucin 15, cell surface associated Kidney - 7.45 0.000
27 AGXT2 alanine--glyoxylate aminotransferase 2 Kidney - 7.43 0.000
28 ALDH8A1 aldehyde dehydrogenase 8 family, member A1 Kidney - 7.36 0.000
29 SOSTDC1 sclerostin domain containing 1 Kidney - 7.31 0.000
30 SLC7A13 solute carrier family 7 (anionic amino acid transporter), member 13 Kidney - 7.31 0.000
31 FAM151A family with sequence similarity 151, member A Kidney - 7.26 0.000
32 TOX thymocyte selection-associated high mobility group box Kidney - 7.23 0.000
33 SLC22A8 solute carrier family 22 (organic anion transporter), member 8 Kidney - 7.20 0.000
34 DHRS2 dehydrogenase/reductase (SDR family) member 2 Kidney + 7.18 0.000
35 UGT2A3 UDP glucuronosyltransferase 2 family, polypeptide A3 Kidney - 7.13 0.002
36 TYRP1 tyrosinase-related protein 1 Kidney - 7.11 0.000
37 GPC5 glypican 5 Kidney - 7.10 0.000
38 PDZK1 PDZ domain containing 1 Kidney - 7.09 0.002
39 KRT19 keratin 19, type I Kidney - 7.03 0.000
40 FGFR3 fibroblast growth factor receptor 3 Kidney - 7.02 0.000
41 CLIC5 chloride intracellular channel 5 Kidney - 7.02 0.001
42 SLC6A13 solute carrier family 6 (neurotransmitter transporter), member 13 Kidney - 6.97 0.000
43 CYP4A11 cytochrome P450, family 4, subfamily A, polypeptide 11 Kidney - 6.90 0.000
44 CYP4A22 cytochrome P450, family 4, subfamily A, polypeptide 22 Kidney - 6.89 0.000
45 SLC22A2 solute carrier family 22 (organic cation transporter), member 2 Kidney - 6.89 0.000
46 GLYATL1 glycine-N-acyltransferase-like 1 Kidney - 6.89 0.000
47 GBA3 glucosidase, beta, acid 3 (gene/pseudogene) Kidney - 6.88 0.000
48 UPB1 ureidopropionase, beta Kidney - 6.88 0.000
49 LUM lumican Kidney - 6.88 0.000
50 NTRK2 neurotrophic tyrosine kinase, receptor, type 2 Kidney - 6.82 0.000
Search GEO for disease gene expression data for Chromophobe Renal Cell Carcinoma.

Pathways for Chromophobe Renal Cell Carcinoma

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.02 HNF1A HNF1B KIT KRT18 KRT7 KRT8
2
Show member pathways
12.16 KRT18 KRT7 KRT8 PRSS8
3 12.14 CAV1 EPCAM KRT18 KRT7 KRT8
4 11.75 CCND1 CDH16 HNF1A HNF1B PSMB9
5 11.41 KRT8 MME TGFB1
6 11.21 CCND1 HNF1A TGFB1
7 10.81 EPCAM KIT MME TGFB1

GO Terms for Chromophobe Renal Cell Carcinoma

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

id Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.96 AMY1A CDH16 EPCAM KRT18 KRT7 KRT8
2 keratin filament GO:0045095 9.5 KRT18 KRT7 KRT8
3 basolateral plasma membrane GO:0016323 9.46 CDH16 CLDN7 CLDN8 EPCAM
4 bicellular tight junction GO:0005923 9.26 CCND1 CLDN7 CLDN8 EPCAM
5 apicolateral plasma membrane GO:0016327 8.8 CLDN7 CLDN8 KRT8

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

(show all 15)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.89 CCND1 CLDN7 EPCAM KIT TGFB1
2 MAPK cascade GO:0000165 9.84 CAV1 KIT PSMB9 TGFB1
3 negative regulation of transcription from RNA polymerase II promoter GO:0000122 9.73 CAV1 CCND1 FLCN HNF1B S100A1 TGFB1
4 viral process GO:0016032 9.72 CAV1 KRT18 KRT7 KRT8 PSMB9
5 liver development GO:0001889 9.65 CCND1 HNF1A HNF1B
6 response to glucose GO:0009749 9.61 HNF1A HNF1B TGFB1
7 positive regulation of cell motility GO:2000147 9.55 CLDN7 EPCAM
8 epithelial cell proliferation GO:0050673 9.52 HNF1B KIT
9 hepatocyte apoptotic process GO:0097284 9.51 KRT18 KRT8
10 negative regulation of epithelial cell differentiation GO:0030857 9.46 CAV1 CCND1
11 positive regulation of transcription initiation from RNA polymerase II promoter GO:0060261 9.4 HNF1A HNF1B
12 germ cell migration GO:0008354 9.37 KIT TGFB1
13 extrinsic apoptotic signaling pathway GO:0097191 9.33 KRT18 KRT8 TGFB1
14 cornification GO:0070268 9.26 KRT18 KRT7 KRT8 PRSS8
15 regulation of pronephros size GO:0035565 8.62 HNF1A HNF1B

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

id Name GO ID Score Top Affiliating Genes
1 protein heterodimerization activity GO:0046982 9.77 CAV1 HNF1A HNF1B PVALB TGFB1
2 protein homodimerization activity GO:0042803 9.73 HNF1A HNF1B KIT PVALB S100A1 TGFB1
3 endopeptidase activity GO:0004175 9.5 MME PRSS8 PSMB9
4 protein complex binding GO:0032403 9.35 CCND1 EPCAM FLCN HNF1B KRT8
5 structural molecule activity GO:0005198 9.1 CAV1 CLDN7 CLDN8 KRT18 KRT7 KRT8
6 protein binding GO:0005515 10.11 AMY1A CAV1 CCND1 CLDN7 CLDN8 EPCAM

Sources for Chromophobe Renal Cell Carcinoma

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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