MCID: RNL017
MIFTS: 47

Renal Oncocytoma malady

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

Aliases & Classifications for Renal Oncocytoma

Aliases & Descriptions 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 CLDN8 (Claudin 8), and among its related pathways/superpathways are B Cell Development Pathways and Dendritic Cells Developmental Lineage Pathway. The drugs Technetium Tc 99m Sestamibi and Radiopharmaceuticals have been mentioned in the context of this disorder. Affiliated tissues include kidney, t cells and brain, and related phenotypes are Decreased Salmonella enterica Typhimurium binding and Decreased Salmonella enterica Typhimurium ruffling

Wikipedia : 71 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 57)
id Related Disease Score Top Affiliating Genes
1 familial renal oncocytoma 12.2
2 birt-hogg-dube syndrome 10.9
3 renal cell carcinoma 10.5
4 chromophobe renal cell carcinoma 10.4
5 liver angiosarcoma 10.2 KIT MME
6 uterine hypoplasia 10.2 KIT MME
7 paranasal sinus cancer 10.2 KIT MME
8 sphenoid sinus squamous cell carcinoma 10.2 KIT MME
9 rectal neoplasm 10.2 KIT MME
10 sebaceous adenoma 10.1 KIT MME
11 laryngeal neuroendocrine tumor 10.1 KIT MME
12 factitious disorder 10.1 KIT MME
13 cranial nerve disease 10.1 KIT MME
14 van regemorter pierquin vamos syndrome 10.1 KIT MME
15 pilar sheath acanthoma 10.1 KIT MME
16 arthus reaction 10.0 KIT MME
17 gallbladder cancer 9.9 CDH16 FLCN KIT MME
18 lipoadenoma 9.9 CDH16 FLCN KIT MME
19 lymphoma 9.9
20 adenoma 9.9
21 clear cell renal cell carcinoma 9.9
22 aneurysm 9.9
23 tuberous sclerosis 9.8
24 eosinophilic variant of chromophobe renal cell carcinoma 9.8
25 pheochromocytoma 9.8
26 prostatitis 9.8
27 renal adenoma 9.8
28 perinephritis 9.8
29 angiomyolipoma 9.8
30 thyroid carcinoma, papillary, with papillary renal neoplasia 9.8 CDH16 FLCN KIT MME MST1R
31 nephrotic syndrome 9.6
32 conjunctivitis 9.6
33 leiomyoma 9.6
34 bladder leiomyoma 9.6
35 bullous pemphigoid 9.6
36 hepatocellular carcinoma 9.6
37 melanoma 9.6
38 duodenitis 9.6
39 colon adenocarcinoma 9.6
40 vasculitis 9.6
41 osteoporosis 9.6
42 amyloidosis 9.6
43 b-cell lymphomas 9.6
44 adenocarcinoma 9.6
45 papillary carcinoma 9.6
46 tubulocystic renal cell carcinoma 9.6
47 diffuse large b-cell lymphoma 9.6
48 glomerulonephritis 9.6
49 chromophobe adenoma 9.6
50 renal fibrosis 9.6

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



Diseases related to Renal Oncocytoma

Symptoms & Phenotypes for Renal Oncocytoma

GenomeRNAi Phenotypes related to Renal Oncocytoma according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased Salmonella enterica Typhimurium binding GR00133-A-3 8.96 EGLN2 MAX
2 Decreased Salmonella enterica Typhimurium ruffling GR00133-A-5 8.8 EGLN2 FLCN MAX

MGI Mouse Phenotypes related to Renal Oncocytoma:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.76 CAV1 CLDN8 EGLN2 EPCAM FLCN KIT
2 immune system MP:0005387 9.5 CAV1 EGLN2 EPCAM FLCN KIT MME
3 liver/biliary system MP:0005370 9.02 CAV1 EGLN2 KIT MME MST1R

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 Technetium Tc 99m Sestamibi
2 Radiopharmaceuticals

Interventional clinical trials:


id Name Status NCT ID Phase
1 Pazopanib Hydrochloride in Treating Patients With Metastatic Kidney Cancer Recruiting NCT01767636 Phase 2
2 Genetic Analysis of Inherited Urologic Malignant Disorders: Collection of Samples Completed NCT00001814
3 Study of 99mTc-Sestamibi SPECT/CT Imaging for the Preoperative Diagnosis of Renal Oncocytoma Recruiting NCT02160925
4 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, Breast, Thyroid

Publications for Renal Oncocytoma

Articles related to Renal Oncocytoma:

(show top 50) (show all 356)
id Title Authors Year
1
Active surveillance is suitable for intermediate term follow-up of renal oncocytoma diagnosed by percutaneous core biopsy. ( 27457972 )
2016
2
Renal oncocytoma: A report of two cases and review of the literature. ( 27347140 )
2016
3
Voxel-based whole-lesion enhancement parameters: a study of its clinical value in differentiating clear cell renal cell carcinoma from renal oncocytoma. ( 27595574 )
2016
4
A systematic review and meta-analysis of immunohistochemical biomarkers that differentiate chromophobe renal cell carcinoma from renal oncocytoma. ( 26951082 )
2016
5
Renal Oncocytoma With Perinephric Fat Invasion. ( 27170678 )
2016
6
Complex MAX Rearrangement in a Family With Malignant Pheochromocytoma, Renal Oncocytoma, and Erythrocytosis. ( 26670126 )
2016
7
Bladder leiomyoma in male patient presenting with renal oncocytoma: Are the two conditions related? ( 27453673 )
2016
8
Renal Oncocytoma with Vascular Invasion: A Series of 22 Cases. ( 27498062 )
2016
9
Renal oncocytoma, small cell variant, with pseudorosettes, showing cyclin D1 expression and tubulovesicular cristae of mitochondria. ( 27076064 )
2016
10
Comparative study of CT appearances in renal oncocytoma and chromophobe renal cell carcinoma. ( 25972369 )
2015
11
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
12
Dilemmas in diagnosis and natural history of renal oncocytoma and implications for management. ( 26664505 )
2015
13
Supremacy of modern morphometry in typing renal oncocytoma and malignant look-alikes. ( 25929744 )
2015
14
Differentiation of renal oncocytoma and renal clear cell carcinoma using relative CT enhancement ratio. ( 25591558 )
2015
15
The Genomic Landscape of Renal Oncocytoma Identifies a Metabolic Barrier to Tumorigenesis. ( 26655904 )
2015
16
The clinicopathological, ultrastructural, genetic features and diagnosis of small cell variant renal oncocytoma. ( 25935740 )
2015
17
HNF1I^ and S100A1 are useful biomarkers for distinguishing renal oncocytoma and chromophobe renal cell carcinoma in FNA and core needle biopsies. ( 25739652 )
2015
18
Mitochondrial DNA mutations distinguish bilateral multifocal renal oncocytomas from familial Birt-Hogg-Dube tumors. ( 26428318 )
2015
19
Cystic Renal Oncocytoma and Tubulocystic Renal Cell Carcinoma: Morphologic and Immunohistochemical Comparative Study. ( 26180933 )
2015
20
Renal oncocytoma with invasive histopathologic features -a88 case report. ( 24739051 )
2014
21
TGF-I^1 expression in chromophobe renal cell carcinoma and renal oncocytoma. ( 24704995 )
2014
22
C-kit overexpression is not associated with KIT gene mutations in chromophobe renal cell carcinoma or renal oncocytoma. ( 24875296 )
2014
23
Diagnostic accuracy of segmental enhancement inversion for diagnosis of renal oncocytoma at biphasic contrast enhanced CT: systematic review. ( 24663821 )
2014
24
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
25
Ultrasonographic features of renal oncocytoma with histopathologic correlation. ( 24449166 )
2014
26
An interesting case of F-18 fluorodeoxyglucose positron emission tomography avid renal oncocytoma. ( 24735168 )
2014
27
Papillary renal cell carcinoma within a renal oncocytoma: Case report of very rare coexistence. ( 25553171 )
2014
28
Renal oncocytoma: A diagnostic dilemma on cytology. ( 25190989 )
2014
29
Cannabinoid CB1 receptor is expressed in chromophobe renal cell carcinoma and renal oncocytoma. ( 23318578 )
2013
30
BCA2 is differentially expressed in renal oncocytoma: an analysis of 158 renal neoplasms. ( 23242606 )
2013
31
LMP2, a novel immunohistochemical marker to distinguish renal oncocytoma from the eosinophilic variant of chromophobe renal cell carcinoma. ( 22705098 )
2013
32
The Management Of A Concomitant Renal Oncocytoma, Giant Coronary And Bilateral Common Iliac Artery Aneurysms. ( 24200531 )
2013
33
Primary penile melanoma with an incidental renal oncocytoma. ( 24031073 )
2013
34
Renal oncocytoma: contrast-enhanced sonographic features. ( 23443184 )
2013
35
Telangiectatic oncocytoma: a previously undescribed variant of renal oncocytoma. ( 23765540 )
2013
36
Giant renal oncocytoma. ( 23401933 )
2013
37
Simultaneous renal oncocytoma and lymphoma: interest of lymphadenectomy. ( 23984175 )
2013
38
Small cell variant of renal oncocytoma with liver metastases: a case report. ( 23775024 )
2013
39
Giant renal oncocytoma. ( 23692817 )
2013
40
Segmental enhancement inversion of small renal oncocytoma: differences in prevalence according to tumor size. ( 23617489 )
2013
41
Tumour-to-tumour metastases: prostate carcinoma metastasising to a renal oncocytoma. ( 23307454 )
2013
42
Bilateral multifocal renal oncocytoma in pregnancy. ( 23372918 )
2012
43
Renal oncocytoma growth rates before intervention. ( 22520366 )
2012
44
Clinically undiagnosed prostate carcinoma metastatic to renal oncocytoma. ( 22754705 )
2012
45
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
46
Renal oncocytoma--are there sufficient grounds to consider surveillance following prenephrectomy histologic diagnosis. ( 20171908 )
2012
47
Microscopic and nuclear morphometric findings of chromophobe renal cell carcinoma, renal oncocytoma, and tumor with overlapping histology. ( 22495123 )
2012
48
Renal oncocytoma: experience of Clinical Urology A, Urology Department, CHU Ibn Sina, Rabat, Morocco and literature review. ( 23077705 )
2012
49
A new translocation between chromosomes 6 and 9 helps to establish diagnosis of renal oncocytoma. ( 20952287 )
2011
50
Case report of a symptomatic giant renal oncocytoma. ( 22096690 )
2011

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 COSM17957 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.292T>G p.Y98D 5
22 COSM17875 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.234T>G p.N78K 5
23 COSM14305 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.266T>A p.L89H 5
24 COSM17983 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.500G>A p.R167Q 5
25 COSM14312 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.353T>C p.L118P 5
26 COSM14425 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.341-2A>T p.? 5
27 COSM14382 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.245G>C p.R82P 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 plasma membrane GO:0005886 9.61 CAV1 CDH16 CLDN8 DLG2 EPCAM FLCN
2 integral component of plasma membrane GO:0005887 9.55 CAV1 CDH16 EPCAM MME MST1R
3 basolateral plasma membrane GO:0016323 8.92 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 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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....