Aliases & Classifications for Oncocytoma

MalaCards integrated aliases for Oncocytoma:

Name: Oncocytoma 56 12 74 54 39
Oxyphilic Adenoma 12 6 15 17 71
Follicular Adenoma, Oxyphilic Cell 12
Adenoma, Oxyphilic 43
Hurthle Cell Tumor 71
Oncocytic Neoplasm 71

Characteristics:

OMIM:

56
Inheritance:
mitochondrial


HPO:

31
oncocytoma:
Inheritance mitochondrial inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:5389
OMIM 56 553000
MeSH 43 D018249
NCIt 49 C3759
SNOMED-CT 67 89439007
MedGen 41 C1510502
SNOMED-CT via HPO 68 108369006 363346000
UMLS 71 C0949541 C1378050 C1510502

Summaries for Oncocytoma

OMIM : 56 Oncocytomas are usually benign tumors that occur in various organs but particularly in the kidneys. Histologic evaluation of renal oncocytomas shows that they are composed entirely of peculiar epithelial cells with granular eosinophilic cytoplasm. Ultrastructural characterization exhibits densely packed cells with mitochondria, which show morphologic differences from those in normal cells. On the average they are larger than those in renal carcinoma cells and their shape is abnormal (summary by Welter et al., 1989). (553000)

MalaCards based summary : Oncocytoma, also known as oxyphilic adenoma, is related to renal oncocytoma and adenoma. An important gene associated with Oncocytoma is MT-ND6 (Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 6), and among its related pathways/superpathways are Keratinization and Cytoskeletal Signaling. The drugs Everolimus and Lactitol have been mentioned in the context of this disorder. Affiliated tissues include kidney, salivary gland and pituitary, and related phenotypes are abnormality of metabolism/homeostasis and neoplasm

Wikipedia : 74 An oncocytoma is a tumor made up of oncocytes, epithelial cells characterized by an excessive amount of... more...

Related Diseases for Oncocytoma

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

(show top 50) (show all 554)
# Related Disease Score Top Affiliating Genes
1 renal oncocytoma 33.6 VIM S100A1 PVALB MME KRT7 KRT14
2 adenoma 31.8 SYP MUC1 KRT7 KRT20
3 angiomyolipoma 31.2 VIM S100A1 MME KRT7 KIT
4 eosinophilic variant of chromophobe renal cell carcinoma 31.1 S100A1 CDH16
5 tuberous sclerosis 31.0 VIM SYP PVALB FLCN
6 horseshoe kidney 30.9 SYP KRT7 KRT20
7 warthin tumor 30.9 KRT7 KRT18 KIT
8 neurilemmoma 30.8 VIM S100A1 MUC1 KIT
9 renal adenoma 30.8 MME KRT7 FLCN AMACR
10 papillary carcinoma 30.7 SYP S100A1 MUC1 KRT7 KRT20
11 adrenal cortical carcinoma 30.7 VIM SYP MUC1
12 granular cell tumor 30.7 VIM SYP S100A1
13 hemangioma 30.6 SYP MUC1 KRT7 KIT
14 polycystic liver disease 1 with or without kidney cysts 30.6 MUC1 KRT7 KRT20 FLCN
15 leiomyoma 30.6 VIM S100A1 MME KIT
16 pleomorphic adenoma 30.6 VIM S100A1 MUC1 KRT7 KRT14
17 spindle cell sarcoma 30.6 VIM MUC1 KRT7
18 pneumothorax 30.5 VIM MUC1 FLCN
19 nephroma 30.5 MUC1 MME KIT
20 papilloma of choroid plexus 30.5 SYP MUC1 KRT7
21 renal cell carcinoma, papillary, 1 30.5 S100A1 MME KRT7 KIT FLCN CDH16
22 leiomyosarcoma 30.4 VIM S100A1 MUC1 KIT
23 cystadenoma 30.4 SYP MUC1 MME KRT7 KRT20 KIT
24 papillary tumor of the pineal region 30.4 VIM SYP S100A1 MUC1
25 ameloblastoma 30.4 KRT8 KRT18 KRT14
26 craniopharyngioma 30.3 KRT8 KRT7 KRT14
27 thymoma 30.3 SYP MUC1 KRT7 KIT
28 clear cell renal cell carcinoma 30.3 VIM MUC1 MME KRT7 FLCN CLDN7
29 sarcomatoid renal cell carcinoma 30.3 S100A1 MUC1 KIT CA9
30 transitional cell carcinoma 30.1 KRT8 KRT7 KRT20 KRT18 CA9
31 papilloma 30.1 KRT8 KRT7 KRT20 KRT14
32 small cell cancer of the lung 30.1 SYP KRT7 KRT20 KRT18 KIT
33 hemangioblastoma 30.0 VIM SYP MUC1 MME KRT8
34 myoepithelioma 30.0 VIM S100A1 MUC1 KRT18 KRT14
35 chromophobe renal cell carcinoma 29.9 VIM S100A1 PVALB MUC1 MME KRT8
36 merkel cell carcinoma 29.9 SYP MUC1 KRT8 KRT7 KRT20 KIT
37 collecting duct carcinoma 29.8 VIM PVALB MUC1 MME KRT7 KRT20
38 renal cell carcinoma, nonpapillary 29.6 VIM S100A1 PVALB MUC1 MME KRT8
39 adenoid cystic carcinoma 29.4 VIM S100A1 MUC1 KRT8 KRT7 KRT20
40 spindle cell carcinoma 29.1 VIM SYP MUC1 KRT8 KRT7 KRT18
41 familial renal oncocytoma 12.4
42 birt-hogg-dube syndrome 11.6
43 thyroid hurthle cell adenoma 11.2
44 scrotum paget's disease 10.7 MUC1 KRT7
45 testicular gonadoblastoma 10.7 VIM KIT
46 gallbladder signet ring cell adenocarcinoma 10.7 MUC1 KRT7
47 anus basaloid carcinoma 10.7 KRT7 KIT
48 reticular perineurioma 10.7 MUC1 KIT
49 cervical adenoid cystic carcinoma 10.7 KRT7 KIT
50 axillary lipoma 10.7 MUC1 KIT

Graphical network of the top 20 diseases related to Oncocytoma:



Diseases related to Oncocytoma

Symptoms & Phenotypes for Oncocytoma

Human phenotypes related to Oncocytoma:

31
# Description HPO Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis 31 HP:0001939
2 neoplasm 31 HP:0002664

Symptoms via clinical synopsis from OMIM:

56
Oncology:
multifocal benign oncocytomas, esp. renal

Lab:
mitochondrial cytchrome c oxidase subunit i gene mutant

Clinical features from OMIM:

553000

MGI Mouse Phenotypes related to Oncocytoma:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.44 AMACR CLDN7 CLDN8 FLCN KIT KRT14

Drugs & Therapeutics for Oncocytoma

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

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Everolimus Approved Phase 2 159351-69-6 70789204 6442177
2
Lactitol Approved, Investigational Phase 2 585-88-6, 585-86-4 493591
3 Immunosuppressive Agents Phase 2
4 Immunologic Factors Phase 2
5 Technetium Tc 99m Sestamibi
6 Radiopharmaceuticals

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phase 2 Study of Everolimus Therapy in Patients With Birt-Hogg-Dube Syndrome (BHD)-Associated Kidney Cancer or Sporadic Chromophobe Renal Cancer Terminated NCT02504892 Phase 2 Everolimus
2 Study of 99mTc-Sestamibi SPECT/CT Imaging for the Preoperative Diagnosis of Renal Oncocytoma Completed NCT02160925
3 Perfusion Scanning's for Kidney Tumors Completed NCT01971905
4 Advanced MRI in Renal Tumors. Completed NCT02325921
5 Genetic Analysis of Inherited Urologic Malignant Disorders: Collection of Samples Completed NCT00001814
6 SPECT/CT for the Characterization of Renal Masses: Impact on Clinical Decision Making Recruiting NCT03996850
7 Clinical Manifestations and Molecular Bases of Heritable Urologic Malignant Disorders Recruiting NCT00001238
8 Study Evaluating the Interest of Cytology-molecular Tumor Markers Association for the Diagnostic Strategy in Adult Kidney Tumors Terminated NCT00491621

Search NIH Clinical Center for Oncocytoma

Cochrane evidence based reviews: adenoma, oxyphilic

Genetic Tests for Oncocytoma

Anatomical Context for Oncocytoma

MalaCards organs/tissues related to Oncocytoma:

40
Kidney, Salivary Gland, Pituitary, Thyroid, Lung, Adrenal Gland, Prostate

Publications for Oncocytoma

Articles related to Oncocytoma:

(show top 50) (show all 2149)
# Title Authors PMID Year
1
Mitochondrial DNA mutations in oncocytic adnexal lacrimal glands of the conjunctiva. 6 56
21555623 2011
2
Familial renal oncocytoma: clinicopathological study of 5 families. 61 56
9679872 1998
3
Involvement of the chromosomal region 11q13 in renal oncocytoma: case report and literature review. 56 61
9109935 1997
4
Molecular analysis of the short arm of chromosome 3 in five renal oncocytomas. 56 61
2304183 1990
5
Alteration of mitochondrial DNA in human oncocytomas. 56 61
2487148 1989
6
Birt-Hogg-Dubé syndrome: a novel marker of kidney neoplasia. 56
10522666 1999
7
Expression of Galectin-3 in renal neoplasms: a diagnostic, possible prognostic marker. 61 54
20073610 2010
8
Novel intronic germline FLCN gene mutation in a patient with multiple ipsilateral renal neoplasms. 61 54
19733897 2009
9
Immunohistochemical stain for cytokeratin 7, S100A1 and claudin 8 is valuable in differential diagnosis of chromophobe renal cell carcinoma from renal oncocytoma. 61 54
19302533 2009
10
Spindle cell oncocytoma of the adenohypophysis: report of a case with marked cellular atypia and recurrence despite adjuvant treatment. 54 61
19353839 2009
11
Claudin-7 and claudin-8: immunohistochemical markers for the differential diagnosis of chromophobe renal cell carcinoma and renal oncocytoma. 61 54
18799195 2009
12
[Hereditary renal cancer]. 61 54
19418834 2009
13
Diagnostic implications of transcription factor Pax 2 protein and transmembrane enzyme complex carbonic anhydrase IX immunoreactivity in adult renal epithelial neoplasms. 54 61
18941400 2009
14
Oncocytoma can be differentiated from its renal cell carcinoma mimics by a panel of markers: an automated tissue microarray study. 54 61
18769342 2009
15
The diagnostic and prognostic utility of claudin expression in renal cell neoplasms. 54 61
18587324 2008
16
Useful markers for differential diagnosis of oncocytoma, chromophobe renal cell carcinoma and conventional renal cell carcinoma. 61 54
18603673 2008
17
Expression of claudin-7 in benign kidney and kidney tumors. 61 54
18784823 2008
18
Vimentin reactivity in renal oncocytoma: immunohistochemical study of 234 cases. 54 61
18081436 2007
19
Claudin-7 immunohistochemistry in renal tumors: a candidate marker for chromophobe renal cell carcinoma identified by gene expression profiling. 61 54
17922590 2007
20
Immunohistochemical analysis of chromophobe renal cell carcinoma, renal oncocytoma, and clear cell carcinoma: an optimal and practical panel for differential diagnosis. 54 61
17683191 2007
21
Diagnostic utility of S100A1 expression in renal cell neoplasms: an immunohistochemical and quantitative RT-PCR study. 54 61
17483815 2007
22
Differential expression of facilitative glucose transporters in normal and tumour kidney tissues. 54 61
17437443 2007
23
S100A1: a powerful marker to differentiate chromophobe renal cell carcinoma from renal oncocytoma. 61 54
17394501 2007
24
Claudin-7 is highly expressed in chromophobe renal cell carcinoma and renal oncocytoma. 61 54
17449941 2007
25
Immunohistochemical analysis for cytokeratin 7, KIT, and PAX2: value in the differential diagnosis of chromophobe cell carcinoma. 61 54
17210525 2007
26
Mutations in BHD and TP53 genes, but not in HNF1beta gene, in a large series of sporadic chromophobe renal cell carcinoma. 54 61
17133269 2007
27
[Expression of Ksp-cadherin in renal epithelial neoplasm and its clinicopathologic significance]. 54 61
17374232 2007
28
Diagnostic value of cytokeratin 7 and parvalbumin in differentiating chromophobe renal cell carcinoma from renal oncocytoma. 61 54
16927643 2006
29
Expression of kidney-specific cadherin in chromophobe renal cell carcinoma and renal oncocytoma. 61 54
16753598 2006
30
Expression of S-100 protein in renal cell neoplasms. 61 54
16564922 2006
31
Caveolin-1 immunohistochemical analysis in differentiating chromophobe renal cell carcinoma from renal oncocytoma. 54 61
16613342 2006
32
p63 expression in salivary gland tumors: role of DeltaNp73L in neoplastic transformation. 54 61
16273188 2005
33
Messenger RNA expression ratios among four genes predict subtypes of renal cell carcinoma and distinguish oncocytoma from carcinoma. 61 54
16166433 2005
34
Kidney-specific cadherin, a specific marker for the distal portion of the nephron and related renal neoplasms. 54 61
15696118 2005
35
Immunophenotypic comparison of salivary gland oncocytoma and metastatic renal cell carcinoma. 61 54
15933529 2005
36
Distribution of cytokeratins and vimentin in adult renal neoplasms and normal renal tissue: potential utility of a cytokeratin antibody panel in the differential diagnosis of renal tumors. 61 54
15897741 2005
37
Molecular classification of renal tumors by gene expression profiling. 54 61
15858144 2005
38
C-kit expression in renal oncocytomas and chromophobe renal cell carcinomas. 61 54
15791570 2005
39
Expression of kidney-specific cadherin distinguishes chromophobe renal cell carcinoma from renal oncocytoma. 61 54
15712178 2005
40
Expression of KIT (CD117) in renal cell carcinoma and renal oncocytoma. 54 61
16015044 2005
41
Birt-Hogg-Dubé syndrome, a genodermatosis that increases risk for renal carcinoma. 61 54
15579035 2004
42
Molecular profiling and classification of sporadic renal cell carcinoma by quantitative methylation analysis. 61 54
15534102 2004
43
The diagnostic utility of MOC31, BerEP4, RCC marker and CD10 in the classification of renal cell carcinoma and renal oncocytoma: an immunohistochemical analysis of 328 cases. 54 61
15500648 2004
44
Overexpression of KIT (CD117) in chromophobe renal cell carcinoma and renal oncocytoma. 61 54
15198361 2004
45
KIT expression in chromophobe renal cell carcinoma: comparative immunohistochemical analysis of KIT expression in different renal cell neoplasms. 54 61
15105658 2004
46
Lack of mutation of the folliculin gene in sporadic chromophobe renal cell carcinoma and renal oncocytoma. 61 54
14961590 2004
47
[Value of special stains and immunohistochemistry in the diagnosis of renal epithelial neoplasms]. 61 54
15132851 2004
48
Immunohistochemical identification of intracytoplasmic lumens by cytokeratin typing may differentiate renal oncocytomas from chromophobe renal cell carcinomas. 54 61
14702167 2004
49
Rapid and sensitive detection of messenger RNA expression for molecular differential diagnosis of renal cell carcinoma. 61 54
14695146 2003
50
PGC-1-related coactivator and targets are upregulated in thyroid oncocytoma. 54 61
14550271 2003

Variations for Oncocytoma

ClinVar genetic disease variations for Oncocytoma:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MT-ND6 NC_012920.1:m.14248dupCduplication Pathogenic 224776 rs869312882 MT:14243-14244 MT:14243-14244

Cosmic variations for Oncocytoma:

9 (show all 27)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM88293959 VHL kidney,NS,carcinoma,oncocytic c.563T>G p.L188R 3:10149886-10149886 3
2 COSM142344940 VAV1 kidney,NS,carcinoma,granular c.1876G>A p.E626K 19:6836530-6836530 3
3 COSM98482493 UBR4 kidney,NS,carcinoma,oncocytic c.4564G>A p.A1522T 1:19164389-19164389 3
4 COSM113655614 SMC6 kidney,NS,carcinoma,oncocytic c.2911-1G>C p.? 2:17670576-17670576 3
5 COSM89619177 SF3B1 kidney,NS,carcinoma,oncocytic c.3122G>A p.R1041H 2:197398473-197398473 3
6 COSM131941816 MDH1 kidney,NS,carcinoma,oncocytic c.948G>C p.K316N 2:63606876-63606876 3
7 COSM105768114 FOXA2 kidney,NS,carcinoma,oncocytic c.90C>T p.G30= 20:22583152-22583152 3
8 COSM103034120 ALDH7A1 kidney,NS,carcinoma,oncocytic c.1570A>G p.I524V 5:126545015-126545015 3
9 COSM149302772 kidney,NS,carcinoma,oncocytic c.1615A>G p.I539V 5:126545015-126545015 3
10 COSM132988022 kidney,NS,carcinoma,oncocytic c.1378A>G p.I460V 5:126545015-126545015 3
11 COSM148326115 kidney,NS,carcinoma,oncocytic c.1450A>G p.I484V 5:126545015-126545015 3
12 COSM91166476 kidney,NS,carcinoma,oncocytic c.2911-1G>C p.? 2:17670576-17670576 3
13 COSM146395536 kidney,NS,carcinoma,oncocytic c.1561A>G p.I521V 5:126545015-126545015 3
14 COSM104961841 kidney,NS,carcinoma,oncocytic c.2911-1G>C p.? 2:17670576-17670576 3
15 COSM85451892 kidney,NS,carcinoma,oncocytic c.894G>C p.K298N 2:63606876-63606876 3
16 COSM141197210 kidney,NS,carcinoma,granular c.1711G>A p.E571K 19:6836530-6836530 3
17 COSM130888282 kidney,NS,carcinoma,oncocytic c.627G>C p.K209N 2:63606876-63606876 3
18 COSM149325981 kidney,NS,carcinoma,oncocytic c.1369A>G p.I457V 5:126545015-126545015 3
19 COSM140075459 kidney,NS,carcinoma,granular c.1780G>A p.E594K 19:6836530-6836530 3
20 COSM130167280 kidney,NS,carcinoma,granular c.1708G>A p.E570K 19:6836530-6836530 3
21 COSM103897123 kidney,NS,carcinoma,oncocytic c.399G>C p.K133N 2:63606876-63606876 3
22 COSM145989298 kidney,NS,carcinoma,oncocytic c.1390A>G p.I464V 5:126545015-126545015 3
23 COSM85977099 kidney,NS,carcinoma,granular c.1876G>A p.E626K 19:6836530-6836530 3
24 COSM99689851 kidney,NS,carcinoma,oncocytic c.72C>T p.G24= 20:22583152-22583152 3
25 COSM149151841 kidney,NS,carcinoma,oncocytic c.1565+1309A>G p.? 5:126545015-126545015 3
26 COSM90654701 kidney,NS,carcinoma,oncocytic c.440T>G p.L147R 3:10149886-10149886 3
27 COSM105256801 kidney,NS,carcinoma,oncocytic c.522G>C p.K174N 2:63606876-63606876 3

Expression for Oncocytoma

Search GEO for disease gene expression data for Oncocytoma.

Pathways for Oncocytoma

Pathways related to Oncocytoma according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.01 KRT8 KRT7 KRT20 KRT18 KRT14
2 11.92 VIM MUC1 KRT8 KRT7 KRT20 KRT18
3 11.48 KRT20 KRT18 KRT14
4 11.3 VIM MME KRT8
5
Show member pathways
11.05 VIM KRT8 KRT7 KRT18 KRT14

GO Terms for Oncocytoma

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

# Name GO ID Score Top Affiliating Genes
1 basolateral plasma membrane GO:0016323 9.56 CLDN8 CLDN7 CDH16 CA9
2 cell periphery GO:0071944 9.5 KRT8 KRT18 KRT14
3 keratin filament GO:0045095 9.46 KRT8 KRT7 KRT18 KRT14
4 apicolateral plasma membrane GO:0016327 9.13 KRT8 CLDN8 CLDN7
5 intermediate filament GO:0005882 9.1 VIM KRT8 KRT7 KRT20 KRT18 KRT14

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

# Name GO ID Score Top Affiliating Genes
1 viral process GO:0016032 9.65 VIM SLC25A5 KRT8 KRT7 KRT18
2 keratinization GO:0031424 9.35 KRT8 KRT7 KRT20 KRT18 KRT14
3 hepatocyte apoptotic process GO:0097284 9.16 KRT8 KRT18
4 cornification GO:0070268 9.02 KRT8 KRT7 KRT20 KRT18 KRT14

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

# Name GO ID Score Top Affiliating Genes
1 structural constituent of cytoskeleton GO:0005200 9.43 VIM KRT20 KRT14
2 scaffold protein binding GO:0097110 9.33 VIM KRT8 KRT18
3 structural molecule activity GO:0005198 9.02 KRT20 KRT18 KRT14 CLDN8 CLDN7
4 keratin filament binding GO:1990254 8.96 VIM KRT14

Sources for Oncocytoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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