MCID: FML028
MIFTS: 19

Familial Renal Oncocytoma

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

Aliases & Classifications for Familial Renal Oncocytoma

MalaCards integrated aliases for Familial Renal Oncocytoma:

Name: Familial Renal Oncocytoma 12 15 70

Classifications:



External Ids:

Disease Ontology 12 DOID:6244
NCIt 50 C8960
UMLS 70 C0879606

Summaries for Familial Renal Oncocytoma

MalaCards based summary : Familial Renal Oncocytoma is related to oncocytoma and birt-hogg-dube syndrome. An important gene associated with Familial Renal Oncocytoma is FLCN (Folliculin), and among its related pathways/superpathways is mTOR signaling pathway (KEGG). Affiliated tissues include kidney.

Related Diseases for Familial Renal Oncocytoma

Diseases in the Renal Oncocytoma family:

Familial Renal Oncocytoma

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

(show all 14)
# Related Disease Score Top Affiliating Genes
1 oncocytoma 30.1 FNIP2 FLCN
2 birt-hogg-dube syndrome 28.6 RRAGC RAB35 FNIP2 FNIP1 FLCN
3 renal oncocytoma 10.0
4 kidney angiomyolipoma 9.9 FNIP1 FLCN
5 skin tag 9.9 FNIP1 FLCN
6 kidney benign neoplasm 9.8 FNIP1 FLCN
7 multilocular clear cell renal cell carcinoma 9.8 FNIP2 FNIP1 FLCN
8 leiomyoma cutis 9.8 FNIP2 FNIP1 FLCN
9 dermis tumor 9.8 FNIP2 FNIP1 FLCN
10 familial renal papillary carcinoma 9.8 FNIP2 FNIP1 FLCN
11 hereditary renal cell carcinoma 9.7 FNIP2 FNIP1 FLCN
12 pneumothorax, primary spontaneous 9.7 PKP4 FNIP1 FLCN
13 renal cell carcinoma, papillary, 1 9.7 FNIP2 FNIP1 FLCN
14 pleural disease 9.7 FNIP1 FLCN

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



Diseases related to Familial Renal Oncocytoma

Symptoms & Phenotypes for Familial Renal Oncocytoma

Drugs & Therapeutics for Familial Renal Oncocytoma

Search Clinical Trials , NIH Clinical Center for Familial Renal Oncocytoma

Genetic Tests for Familial Renal Oncocytoma

Anatomical Context for Familial Renal Oncocytoma

MalaCards organs/tissues related to Familial Renal Oncocytoma:

40
Kidney

Publications for Familial Renal Oncocytoma

Articles related to Familial Renal Oncocytoma:

# Title Authors PMID Year
1
Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome. 61
15852235 2005
2
The genetic basis of cancer of the kidney. 61
14634372 2003
3
Hereditary renal cancers. 61
12511666 2003
4
Parenchymal sparing surgery in patients with hereditary renal cell carcinoma: 10-year experience. 61
11176466 2001
5
Familial renal oncocytoma: clinicopathological study of 5 families. 61
9679872 1998

Variations for Familial Renal Oncocytoma

Expression for Familial Renal Oncocytoma

Search GEO for disease gene expression data for Familial Renal Oncocytoma.

Pathways for Familial Renal Oncocytoma

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.39 RRAGC FNIP2 FNIP1 FLCN

GO Terms for Familial Renal Oncocytoma

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

# Name GO ID Score Top Affiliating Genes
1 lysosomal membrane GO:0005765 9.33 FNIP2 FNIP1 FLCN
2 mitotic spindle GO:0072686 9.26 FLCN PKP4
3 cell-cell contact zone GO:0044291 8.96 PKP4 FLCN
4 lysosome GO:0005764 8.92 RRAGC FNIP2 FNIP1 FLCN

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.51 FNIP2 FNIP1
2 cellular response to starvation GO:0009267 9.5 RRAGC FNIP1 FLCN
3 positive regulation of protein complex assembly GO:0031334 9.49 FNIP2 FNIP1
4 cellular response to amino acid starvation GO:0034198 9.48 RRAGC FLCN
5 cell-cell junction assembly GO:0007043 9.46 PKP4 FLCN
6 negative regulation of TOR signaling GO:0032007 9.43 FNIP1 FLCN
7 regulation of TOR signaling GO:0032006 9.4 RRAGC FLCN
8 TOR signaling GO:0031929 9.37 FNIP1 FLCN
9 regulation of protein phosphorylation GO:0001932 9.33 FNIP2 FNIP1 FLCN
10 negative regulation of mitochondrion organization GO:0010823 9.26 FNIP1 FLCN
11 regulation of pro-B cell differentiation GO:2000973 8.96 FNIP1 FLCN
12 positive regulation of TOR signaling GO:0032008 8.8 RRAGC FNIP1 FLCN

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

# Name GO ID Score Top Affiliating Genes
1 chaperone binding GO:0051087 9.16 FNIP2 FNIP1
2 GDP binding GO:0019003 8.96 RRAGC RAB35
3 ATPase inhibitor activity GO:0042030 8.62 FNIP2 FNIP1

Sources for Familial Renal Oncocytoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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