MCID: RNL017
MIFTS: 45

Renal Oncocytoma

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

Aliases & Classifications for Renal Oncocytoma

MalaCards integrated aliases for Renal Oncocytoma:

Name: Renal Oncocytoma 38 12 50 14
Oncocytoma, Renal 42 69
Renal Epithelial Oncocytic Tumor 12
Oncocytoma of Kidney 12
Oncocytoma Kidney 50
Oncocytoma Renal 50

Classifications:



External Ids:

Disease Ontology 12 DOID:6245
MeSH 42 C537750
NCIt 47 C4526
SNOMED-CT 64 254922006
UMLS 69 C0346255

Summaries for Renal Oncocytoma

NIH Rare Diseases : 50 renal oncocytoma is a benign (noncancerous) growth of the kidney. they generally do not cause any signs or symptoms and are often discovered incidentally (by chance) while a person is undergoing diagnostic imaging for other conditions. some people with renal oncocytoma will have abdominal or flank pain; blood in the urine; and/or an abdominal mass. although these tumors can occur in people of all ages, they most commonly develop in men who are over age 50. the exact underlying cause of most isolated (single tumor affecting one kidney) renal oncocytomas is unknown; however, multiple and bilateral (affecting both kidneys) renal oncocytomas sometimes occur in people with certain genetic syndromes such as tuberous sclerosis complex and birt-hogg-dube syndrome. although many benign tumors do not require treatment unless they are causing unpleasant symptoms, it can be difficult to confidently differentiate a renal oncocytoma from renal cell carcinoma. most affected people are, therefore, treated with surgery which allows for confirmation of the diagnosis. last updated: 3/29/2016

MalaCards based summary : Renal Oncocytoma, also known as oncocytoma, renal, is related to familial renal oncocytoma and birt-hogg-dube syndrome. An important gene associated with Renal Oncocytoma is FLCN (Folliculin), and among its related pathways/superpathways are B Cell Development Pathways and Dendritic Cells Developmental Lineage Pathway. The drugs Radiopharmaceuticals and Technetium Tc 99m Sestamibi have been mentioned in the context of this disorder. Affiliated tissues include kidney, t cells and brain, and related phenotype is renal/urinary system.

Wikipedia : 72 A renal oncocytoma is a tumour of the kidney made up of oncocytes, a special kind of... more...

Related Diseases for Renal Oncocytoma

Diseases in the Renal Oncocytoma family:

Familial Renal Oncocytoma

Diseases related to Renal Oncocytoma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 65)
id Related Disease Score Top Affiliating Genes
1 familial renal oncocytoma 12.1
2 birt-hogg-dube syndrome 10.9
3 renal cell carcinoma 10.5
4 malignant sertoli-leydig cell tumor 10.5 KIT MME
5 pseudounicornuate uterus 10.5 KIT MME
6 sphenoid sinus squamous cell carcinoma 10.5 KIT MME
7 liver angiosarcoma 10.5 KIT MME
8 sebaceous adenoma 10.4 KIT MME
9 chromophobe renal cell carcinoma 10.4
10 rectal neoplasm 10.4 KIT MME
11 spiradenoma 10.4 KIT MME
12 urethral villous adenoma 10.4 KIT MME
13 hypersensitivity reaction type iii disease 10.4 KIT MME
14 factitious disorder 10.3 KIT MME
15 vagina, absence of 10.2 KIT MME
16 mercaptolactate-cysteine disulfiduria 10.2 KIT SDHB
17 vestibular gland benign neoplasm 10.2 KIT MME
18 renal cell carcinoma, papillary 10.2 CDH16 KIT MME
19 fallopian tube papillary adenocarcinoma 10.1 CAV1 MME
20 perivascular epithelioid cell tumor 10.1 KIT MME
21 lymphoma 9.9
22 aneurysm 9.9
23 adenoma 9.9
24 clear cell renal cell carcinoma 9.9
25 gallbladder papillomatosis 9.9 CDH16 FLCN KIT MME
26 acidophil adenoma 9.9 CDH16 FLCN KIT MME
27 angiomyolipoma 9.8
28 renal clear cell carcinoma 9.8
29 tuberous sclerosis 9.8
30 pheochromocytoma 9.8
31 prostatitis 9.8
32 eosinophilic variant of chromophobe renal cell carcinoma 9.8
33 renal adenoma 9.8
34 perinephritis 9.8
35 adenocarcinoma 9.8
36 hidrotic ectodermal dysplasia 2 9.7 MAX SDHB
37 sertoli-leydig cell tumor 9.7 EPCAM KIT MST1R
38 papillary carcinoma 9.6
39 diffuse large b-cell lymphoma 9.6
40 tubulocystic renal cell carcinoma 9.6
41 glomerulonephritis 9.6
42 breast adenocarcinoma 9.6
43 renal fibrosis 9.6
44 chromophobe adenoma 9.6
45 endocarditis 9.6
46 renal pelvis carcinoma 9.6
47 nephrotic syndrome 9.6
48 hemangioblastoma 9.6
49 leiomyoma 9.6
50 conjunctivitis 9.6

Graphical network of the top 20 diseases related to Renal Oncocytoma:



Diseases related to Renal Oncocytoma

Symptoms & Phenotypes for Renal Oncocytoma

MGI Mouse Phenotypes related to Renal Oncocytoma:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 8.92 CLDN8 FLCN KIT CAV1

Drugs & Therapeutics for Renal Oncocytoma

Drugs for Renal Oncocytoma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Radiopharmaceuticals
2 Technetium Tc 99m Sestamibi

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Pazopanib Hydrochloride in Treating Patients With Metastatic Kidney Cancer Recruiting NCT01767636 Phase 2 Pazopanib Hydrochloride
2 Study of 99mTc-Sestamibi SPECT/CT Imaging for the Preoperative Diagnosis of Renal Oncocytoma Recruiting NCT02160925
3 Evaluation of Diagnostic Value of Molecular Markers in Renal Cancer Terminated NCT00491621

Search NIH Clinical Center for Renal Oncocytoma

Cochrane evidence based reviews: oncocytoma, renal

Genetic Tests for Renal Oncocytoma

Anatomical Context for Renal Oncocytoma

MalaCards organs/tissues related to Renal Oncocytoma:

39
Kidney, T Cells, Brain, Prostate, Liver, Testis, Thyroid

Publications for Renal Oncocytoma

Articles related to Renal Oncocytoma:

(show top 50) (show all 361)
id Title Authors Year
1
Increased Nicotinamide Phosphoribosyltransferase and Cystathionine-I^-Synthase in Renal Oncocytomas, Renal Urothelial Carcinoma, and Renal Clear Cell Carcinoma. ( 28668830 )
2017
2
Giant renal oncocytoma with classic stellate scar. ( 28130290 )
2017
3
Renal oncocytoma in a cat with chronic renal failure. ( 28491452 )
2017
4
Remote Development of Tumor-to-Tumor Metastasis of Breast Adenocarcinoma in a Renal Oncocytoma. ( 28551171 )
2017
5
Liver Metastases From Renal Oncocytoma With Vascular Extension. ( 28682831 )
2017
6
Renal oncocytoma, small cell variant, with pseudorosettes, showing cyclin D1 expression and tubulovesicular cristae of mitochondria. ( 27076064 )
2016
7
Bladder leiomyoma in male patient presenting with renal oncocytoma: Are the two conditions related? ( 27453673 )
2016
8
Renal Oncocytoma With Perinephric Fat Invasion. ( 27170678 )
2016
9
Renal oncocytoma: A report of two cases and review of the literature. ( 27347140 )
2016
10
Complex MAX Rearrangement in a Family With Malignant Pheochromocytoma, Renal Oncocytoma, and Erythrocytosis. ( 26670126 )
2016
11
Voxel-based whole-lesion enhancement parameters: a study of its clinical value in differentiating clear cell renal cell carcinoma from renal oncocytoma. ( 27595574 )
2016
12
Active surveillance is suitable for intermediate term follow-up of renal oncocytoma diagnosed by percutaneous core biopsy. ( 27457972 )
2016
13
Renal Oncocytoma with Vascular Invasion: A Series of 22 Cases. ( 27498062 )
2016
14
A systematic review and meta-analysis of immunohistochemical biomarkers that differentiate chromophobe renal cell carcinoma from renal oncocytoma. ( 26951082 )
2016
15
Dilemmas in diagnosis and natural history of renal oncocytoma and implications for management. ( 26664505 )
2015
16
Comparative study of CT appearances in renal oncocytoma and chromophobe renal cell carcinoma. ( 25972369 )
2015
17
Supremacy of modern morphometry in typing renal oncocytoma and malignant look-alikes. ( 25929744 )
2015
18
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
19
Cystic Renal Oncocytoma and Tubulocystic Renal Cell Carcinoma: Morphologic and Immunohistochemical Comparative Study. ( 26180933 )
2015
20
The clinicopathological, ultrastructural, genetic features and diagnosis of small cell variant renal oncocytoma. ( 25935740 )
2015
21
The Genomic Landscape of Renal Oncocytoma Identifies a Metabolic Barrier to Tumorigenesis. ( 26655904 )
2015
22
Differentiation of renal oncocytoma and renal clear cell carcinoma using relative CT enhancement ratio. ( 25591558 )
2015
23
Mitochondrial DNA mutations distinguish bilateral multifocal renal oncocytomas from familial Birt-Hogg-Dube tumors. ( 26428318 )
2015
24
HNF1I^ and S100A1 are useful biomarkers for distinguishing renal oncocytoma and chromophobe renal cell carcinoma in FNA and core needle biopsies. ( 25739652 )
2015
25
Diagnostic accuracy of segmental enhancement inversion for the diagnosis of renal oncocytoma using biphasic computed tomography (CT) and multiphase contrast-enhanced magnetic resonance imaging (MRI). ( 25027841 )
2014
26
Renal oncocytoma: A diagnostic dilemma on cytology. ( 25190989 )
2014
27
Papillary renal cell carcinoma within a renal oncocytoma: Case report of very rare coexistence. ( 25553171 )
2014
28
Ultrasonographic features of renal oncocytoma with histopathologic correlation. ( 24449166 )
2014
29
TGF-I^1 expression in chromophobe renal cell carcinoma and renal oncocytoma. ( 24704995 )
2014
30
Renal oncocytoma with invasive histopathologic features -a88 case report. ( 24739051 )
2014
31
Diagnostic accuracy of segmental enhancement inversion for diagnosis of renal oncocytoma at biphasic contrast enhanced CT: systematic review. ( 24663821 )
2014
32
C-kit overexpression is not associated with KIT gene mutations in chromophobe renal cell carcinoma or renal oncocytoma. ( 24875296 )
2014
33
An interesting case of F-18 fluorodeoxyglucose positron emission tomography avid renal oncocytoma. ( 24735168 )
2014
34
Renal oncocytoma: contrast-enhanced sonographic features. ( 23443184 )
2013
35
Telangiectatic oncocytoma: a previously undescribed variant of renal oncocytoma. ( 23765540 )
2013
36
Simultaneous renal oncocytoma and lymphoma: interest of lymphadenectomy. ( 23984175 )
2013
37
Small cell variant of renal oncocytoma with liver metastases: a case report. ( 23775024 )
2013
38
Giant renal oncocytoma. ( 23692817 )
2013
39
Segmental enhancement inversion of small renal oncocytoma: differences in prevalence according to tumor size. ( 23617489 )
2013
40
Tumour-to-tumour metastases: prostate carcinoma metastasising to a renal oncocytoma. ( 23307454 )
2013
41
LMP2, a novel immunohistochemical marker to distinguish renal oncocytoma from the eosinophilic variant of chromophobe renal cell carcinoma. ( 22705098 )
2013
42
The Management Of A Concomitant Renal Oncocytoma, Giant Coronary And Bilateral Common Iliac Artery Aneurysms. ( 24200531 )
2013
43
Giant renal oncocytoma. ( 23401933 )
2013
44
BCA2 is differentially expressed in renal oncocytoma: an analysis of 158 renal neoplasms. ( 23242606 )
2013
45
Cannabinoid CB1 receptor is expressed in chromophobe renal cell carcinoma and renal oncocytoma. ( 23318578 )
2013
46
Primary penile melanoma with an incidental renal oncocytoma. ( 24031073 )
2013
47
Renal oncocytoma growth rates before intervention. ( 22520366 )
2012
48
Utility of immunohistochemical analysis of KAI1, epithelial-specific antigen, and epithelial-related antigen for distinction of chromophobe renal cell carcinoma, an eosinophilic variant from renal oncocytoma. ( 22718295 )
2012
49
Clinically undiagnosed prostate carcinoma metastatic to renal oncocytoma. ( 22754705 )
2012
50
Renal oncocytoma--are there sufficient grounds to consider surveillance following prenephrectomy histologic diagnosis. ( 20171908 )
2012

Variations for Renal Oncocytoma

Cosmic variations for Renal Oncocytoma:

9 (show all 28)
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA Conf
1 COSM25680 VHL kidney,NS,carcinoma,oncocytic c.563T>G p.L188R 7
2 COSM26012 UBR4 kidney,NS,carcinoma,oncocytic c.4564G>A p.A1522T 7
3 COSM25647 SMC6 kidney,NS,carcinoma,oncocytic c.2911-1G>C p.? 7
4 COSM130403 SF3B1 kidney,NS,carcinoma,oncocytic c.3122G>A p.R1041H 7
5 COSM28419 MDH1 kidney,NS,carcinoma,oncocytic c.894G>C p.K298N 7
6 COSM27600 FOXA2 kidney,NS,carcinoma,oncocytic c.72C>T p.G24G 7
7 COSM26015 ALDH7A1 kidney,NS,carcinoma,oncocytic c.1486A>G p.I496V 7
8 COSM25676 VHL kidney,NS,carcinoma,renal cell c.485G>T p.C162F 6
9 COSM27269 UMPS kidney,NS,carcinoma,renal cell c.528G>A p.L176L 6
10 COSM30474 TRIO kidney,NS,carcinoma,renal cell c.9008A>G p.N3003S 6
11 COSM26594 RNF144A kidney,NS,carcinoma,renal cell c.410C>T p.A137V 6
12 COSM26987 RGS7 kidney,NS,carcinoma,renal cell c.169T>C p.F57L 6
13 COSM26614 RABGAP1 kidney,NS,carcinoma,renal cell c.1533T>A p.H511Q 6
14 COSM30530 PTPN22 kidney,NS,carcinoma,renal cell c.209G>C p.R70P 6
15 COSM27618 KMT2A kidney,NS,carcinoma,renal cell c.5711C>T p.A1904V 6
16 COSM30502 ITPR3 kidney,NS,carcinoma,renal cell c.4574G>T p.C1525F 6
17 COSM28415 DOCK1 kidney,NS,carcinoma,renal cell c.1306G>T p.D436Y 6
18 COSM30531 COPS4 kidney,NS,carcinoma,renal cell c.385G>C p.G129R 6
19 COSM25654 CDC5L kidney,NS,carcinoma,renal cell c.1196G>A p.R399Q 6
20 COSM30471 ARHGAP20 kidney,NS,carcinoma,renal cell c.1355A>G p.D452G 6
21 COSM14312 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.353T>C p.L118P 5
22 COSM17983 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.500G>A p.R167Q 5
23 COSM17957 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.292T>G p.Y98D 5
24 COSM14382 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.245G>C p.R82P 5
25 COSM14305 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.266T>A p.L89H 5
26 COSM17875 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.234T>G p.N78K 5
27 COSM14425 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.341-2A>T p.? 5
28 COSM52899 PBRM1 kidney,NS,carcinoma,renal cell carcinoma unclassified c.3805A>T p.K1269* 5

Expression for Renal Oncocytoma

LifeMap Discovery
Genes differentially expressed in tissues of Renal Oncocytoma patients vs. healthy controls: 35 (show top 50) (show all 310)
id Gene Description Tissue Up/Dn Fold Change (log2) P value
1 ACSM2A acyl-CoA synthetase medium-chain family member 2A Kidney - 11.65 0.000
2 ALDOB aldolase B, fructose-bisphosphate Kidney - 9.16 0.000
3 NAT8 N-acetyltransferase 8 (GCN5-related, putative) Kidney - 9.12 0.000
4 GLYAT glycine-N-acyltransferase Kidney - 8.92 0.000
5 CTXN3 cortexin 3 Kidney - 8.72 0.000
6 ALDH8A1 aldehyde dehydrogenase 8 family, member A1 Kidney - 8.58 0.000
7 SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member 1 Kidney - 8.51 0.000
8 HPD 4-hydroxyphenylpyruvate dioxygenase Kidney - 8.48 0.000
9 FABP1 fatty acid binding protein 1, liver Kidney - 8.41 0.000
10 GSTA1 glutathione S-transferase alpha 1 Kidney - 8.32 0.000
11 CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) Kidney + 8.25 0.000
12 CXCL14 chemokine (C-X-C motif) ligand 14 Kidney - 8.13 0.000
13 PLG plasminogen Kidney - 8.11 0.000
14 MUC15 mucin 15, cell surface associated Kidney - 8.04 0.000
15 ACMSD aminocarboxymuconate semialdehyde decarboxylase Kidney - 7.88 0.000
16 CALB1 calbindin 1, 28kDa Kidney - 7.86 0.000
17 RNF128 ring finger protein 128, E3 ubiquitin protein ligase Kidney - 7.83 0.000
18 FMO1 flavin containing monooxygenase 1 Kidney - 7.79 0.000
19 UGT2B28 UDP glucuronosyltransferase 2 family, polypeptide B28 Kidney - 7.75 0.000
20 PAH phenylalanine hydroxylase Kidney - 7.75 0.000
21 KCNJ1 potassium channel, inwardly rectifying subfamily J, member 1 Kidney - 7.71 0.000
22 G6PC glucose-6-phosphatase, catalytic subunit Kidney - 7.61 0.000
23 SCNN1G sodium channel, non voltage gated 1 gamma subunit Kidney - 7.61 0.000
24 AGXT2 alanine--glyoxylate aminotransferase 2 Kidney - 7.60 0.000
25 AQP6 aquaporin 6, kidney specific Kidney + 7.57 0.000
26 SLC16A9 solute carrier family 16, member 9 Kidney - 7.57 0.000
27 ALB albumin Kidney - 7.54 0.000
28 PDZK1IP1 PDZK1 interacting protein 1 Kidney - 7.52 0.000
29 MFSD4 major facilitator superfamily domain containing 4 Kidney - 7.44 0.000
30 MIOX myo-inositol oxygenase Kidney - 7.39 0.000
31 ENPP6 ectonucleotide pyrophosphatase/phosphodiesterase 6 Kidney - 7.33 0.000
32 SLC7A13 solute carrier family 7 (anionic amino acid transporter), member 13 Kidney - 7.29 0.000
33 TMEM37 transmembrane protein 37 Kidney - 7.26 0.000
34 UGT3A1 UDP glycosyltransferase 3 family, polypeptide A1 Kidney - 7.21 0.000
35 LOC100505650 uncharacterized LOC100505650 Kidney - 7.19 0.000
36 ANPEP alanyl (membrane) aminopeptidase Kidney - 7.17 0.000
37 FAM151A family with sequence similarity 151, member A Kidney - 7.15 0.000
38 C1S complement component 1, s subcomponent Kidney - 7.01 0.000
39 CLRN3 clarin 3 Kidney - 6.96 0.000
40 EHF ets homologous factor Kidney - 6.86 0.000
41 SLC13A3 solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 Kidney - 6.86 0.000
42 MGAM maltase-glucoamylase Kidney - 6.85 0.000
43 TMEM255A transmembrane protein 255A Kidney + 6.84 0.000
44 TMEM45B transmembrane protein 45B Kidney - 6.80 0.000
45 CYP4A11 cytochrome P450, family 4, subfamily A, polypeptide 11 Kidney - 6.78 0.000
46 BHMT betaine--homocysteine S-methyltransferase Kidney - 6.77 0.000
47 NPHS2 nephrosis 2, idiopathic, steroid-resistant (podocin) Kidney - 6.77 0.000
48 IRX2 iroquois homeobox 2 Kidney - 6.75 0.000
49 GLYATL1 glycine-N-acyltransferase-like 1 Kidney - 6.73 0.000
50 MT1F metallothionein 1F Kidney - 6.70 0.000
Search GEO for disease gene expression data for Renal Oncocytoma.

Pathways for Renal Oncocytoma

Pathways related to Renal Oncocytoma according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 10.68 KIT MME
2 10.68 EPCAM KIT MME

GO Terms for Renal Oncocytoma

Cellular components related to Renal Oncocytoma according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.55 CAV1 CDH16 EPCAM MME MST1R
2 plasma membrane GO:0005886 9.32 CAV1 CDH16 CLDN8 DLG2 EPCAM FLCN
3 basolateral plasma membrane GO:0016323 9.26 CDH16 CLDN8 DLG2 EPCAM

Biological processes related to Renal Oncocytoma according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 stem cell differentiation GO:0048863 8.96 EPCAM KIT
2 cellular response to peptide hormone stimulus GO:0071375 8.62 CAV1 MAX

Molecular functions related to Renal Oncocytoma according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 transmembrane receptor protein tyrosine kinase activity GO:0004714 8.96 KIT MST1R
2 protein complex binding GO:0032403 8.8 EPCAM FLCN MAX

Sources for Renal Oncocytoma

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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