MCID: FML029
MIFTS: 31

Familial Renal Papillary Carcinoma

Categories: Cancer diseases, Genetic diseases, Nephrological diseases

Aliases & Classifications for Familial Renal Papillary Carcinoma

MalaCards integrated aliases for Familial Renal Papillary Carcinoma:

Name: Familial Renal Papillary Carcinoma 12 15
Hereditary Papillary Renal Carcinoma 12 71
Papillary Renal Cancer Hereditary 54

Classifications:



External Ids:

Disease Ontology 12 DOID:6163
NCIt 49 C9222
UMLS 71 C0879257

Summaries for Familial Renal Papillary Carcinoma

MalaCards based summary : Familial Renal Papillary Carcinoma, also known as hereditary papillary renal carcinoma, is related to renal cell carcinoma, papillary, 1 and kidney cancer, and has symptoms including flank pain An important gene associated with Familial Renal Papillary Carcinoma is MET (MET Proto-Oncogene, Receptor Tyrosine Kinase), and among its related pathways/superpathways are Pathways in cancer and mTOR signaling pathway (KEGG). The drugs Sirolimus and Everolimus have been mentioned in the context of this disorder. Affiliated tissues include kidney and thyroid, and related phenotypes are neoplasm and renal/urinary system

Related Diseases for Familial Renal Papillary Carcinoma

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

(show all 32)
# Related Disease Score Top Affiliating Genes
1 renal cell carcinoma, papillary, 1 29.2 TFE3 SDHB MST1R MET HGF FNIP2
2 kidney cancer 28.6 SDHB MET FLCN FH ELOB CUL2
3 renal cell carcinoma, nonpapillary 26.9 TFE3 SDHB MST1R MET HGF FLCN
4 chronic erosive gastritis 10.3 MET HGF
5 doxorubicin induced cardiomyopathy 10.3 MET HGF
6 angiolipoma 10.3 FLCN FH
7 deafness, autosomal recessive 97 10.3 MET HGF
8 papillary thyroid microcarcinoma 10.2 MET HGF
9 large cell medulloblastoma 10.2 MET HGF
10 familial renal oncocytoma 10.1 FNIP2 FNIP1 FLCN
11 chromosomal triplication 10.1
12 multilocular clear cell renal cell carcinoma 10.1 FNIP2 FNIP1 FLCN
13 pneumothorax, primary spontaneous 10.1 FNIP2 FNIP1 FLCN
14 pleural disease 10.0 FNIP2 FNIP1 FLCN
15 erythrocytosis, familial, 2 9.9 ELOC ELOB
16 adenoma 9.9
17 epithelial predominant wilms' tumor 9.9 TFE3 FH
18 retinal hemangioblastoma 9.9 ELOC ELOB CUL2
19 kidney benign neoplasm 9.9 TFE3 FLCN FH
20 hereditary leiomyomatosis and renal cell cancer 9.8 SDHB FH
21 gastroesophageal adenocarcinoma 9.7 MST1R MET
22 leiomyomatosis 9.7 SDHB FLCN FH
23 persistent generalized lymphadenopathy 9.6 SDHB FH
24 renal oncocytoma 9.5 SDHB MST1R FLCN
25 oncocytoma 9.5 SDHB FNIP2 FLCN FH
26 birt-hogg-dube syndrome 9.4 TFE3 FNIP2 FNIP1 FLCN FH
27 clear cell renal cell carcinoma 9.4 TFE3 MET FNIP1 FLCN ELOB
28 von hippel-lindau syndrome 9.4 SDHB MET ELOB CUL2
29 cardiovascular organ benign neoplasm 9.3 SDHB ELOC ELOB CUL2
30 pheochromocytoma 9.1 SDHB FH ELOB CUL2
31 leiomyoma cutis 9.1 FNIP2 FNIP1 FLCN FH ELOC ELOB
32 hereditary renal cell carcinoma 8.3 SDHB MET HGF FNIP2 FNIP1 FLCN

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



Diseases related to Familial Renal Papillary Carcinoma

Symptoms & Phenotypes for Familial Renal Papillary Carcinoma

UMLS symptoms related to Familial Renal Papillary Carcinoma:


flank pain

MGI Mouse Phenotypes related to Familial Renal Papillary Carcinoma:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 9.35 FLCN FNIP1 FNIP2 MET SDHB
2 renal/urinary system MP:0005367 9.1 FH FLCN FNIP1 FNIP2 MET SDHB

Drugs & Therapeutics for Familial Renal Papillary Carcinoma

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030 46835353
2
Everolimus Approved Phase 2 159351-69-6 6442177 70789204
3
Lactitol Investigational Phase 2 585-86-4, 585-88-6 493591

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase 2 Study of the MET Kinase Inhibitor INC280 in Papillary Renal Cell Cancer Recruiting NCT02019693 Phase 2 INC280
2 Clinical Manifestations and Molecular Bases of Heritable Urologic Malignant Disorders Recruiting NCT00001238

Search NIH Clinical Center for Familial Renal Papillary Carcinoma

Genetic Tests for Familial Renal Papillary Carcinoma

Anatomical Context for Familial Renal Papillary Carcinoma

MalaCards organs/tissues related to Familial Renal Papillary Carcinoma:

40
Kidney, Thyroid

Publications for Familial Renal Papillary Carcinoma

Articles related to Familial Renal Papillary Carcinoma:

(show all 32)
# Title Authors PMID Year
1
Case of Hereditary Papillary Renal Cell Carcinoma Type I in a Patient With a Germline MET Mutation in Russia. 61
32039030 2019
2
MET in human cancer: germline and somatic mutations. 61
28603720 2017
3
Genetic predisposition to kidney cancer. 61
27899189 2016
4
Pharmacodynamic Response of the MET/HGF Receptor to Small-Molecule Tyrosine Kinase Inhibitors Examined with Validated, Fit-for-Clinic Immunoassays. 61
27001313 2016
5
Inherited renal carcinomas. 61
27108134 2016
6
Novel germline c-MET mutation in a family with hereditary papillary renal carcinoma. 61
22717761 2012
7
Familial renal cancer: molecular genetics and surgical management. 61
22312516 2011
8
Oncological outcomes of partial nephrectomy for multifocal renal cell carcinoma greater than 4 cm. 61
20478582 2010
9
Hereditary and familial kidney cancer. 61
19584731 2009
10
Hereditary kidney cancer: unique opportunity for disease-based therapy. 61
19402075 2009
11
The clinical implications of the genetics of renal cell carcinoma. 61
19285230 2009
12
Identification of the genes for kidney cancer: opportunity for disease-specific targeted therapeutics. 61
17255292 2007
13
Genetic basis of cancer of the kidney. 61
17045083 2006
14
[Clinical analysis in diagnosis and treatment of 11 patients with hereditary renal cell carcinoma]. 61
17074206 2006
15
Expression of hypoxia inducible factor-1alpha and 2alpha in genetically distinct early renal cortical tumors. 61
16600797 2006
16
Common pattern of unusual chromosome abnormalities in hereditary papillary renal carcinoma. 61
16434318 2006
17
Hereditary papillary renal carcinoma type I. 61
15579033 2004
18
Early onset hereditary papillary renal carcinoma: germline missense mutations in the tyrosine kinase domain of the met proto-oncogene. 61
15371818 2004
19
Genetic basis of cancer of the kidney: disease-specific approaches to therapy. 61
15448018 2004
20
The genetic basis of cancer of the kidney. 61
14634372 2003
21
Multicentric papillary renal carcinoma in renal allograft. 61
12900823 2003
22
Point mutations and overexpression of Ron induce transformation, tumor formation, and metastasis. 61
11593422 2001
23
Anti-apoptotic signaling by hepatocyte growth factor/Met via the phosphatidylinositol 3-kinase/Akt and mitogen-activated protein kinase pathways. 61
11134526 2001
24
Advances in the molecular basis of renal neoplasia. 54
10456263 1999
25
[Molecular genetic mechanism of hereditary human kidney cancer development]. 61
10386052 1999
26
Novel mutations of the MET proto-oncogene in papillary renal carcinomas. 61
10327054 1999
27
Evaluation of the tyrosine kinase domain of the Met proto-oncogene in sporadic ovarian carcinomas*. 54
10491015 1999
28
Hereditary papillary renal carcinoma: pathology and pathogenesis. 61
10597374 1999
29
Trisomy 7-harbouring non-random duplication of the mutant MET allele in hereditary papillary renal carcinomas. 61
9731534 1998
30
Two North American families with hereditary papillary renal carcinoma and identical novel mutations in the MET proto-oncogene. 61
9563489 1998
31
Inherited carcinomas of the kidney. 61
9709810 1998
32
Germline and somatic mutations in the tyrosine kinase domain of the MET proto-oncogene in papillary renal carcinomas. 61
9140397 1997

Variations for Familial Renal Papillary Carcinoma

Expression for Familial Renal Papillary Carcinoma

Search GEO for disease gene expression data for Familial Renal Papillary Carcinoma.

Pathways for Familial Renal Papillary Carcinoma

GO Terms for Familial Renal Papillary Carcinoma

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

# Name GO ID Score Top Affiliating Genes
1 basal plasma membrane GO:0009925 9.26 MST1R MET
2 Cul2-RING ubiquitin ligase complex GO:0031462 9.16 ELOB CUL2
3 elongin complex GO:0070449 8.96 ELOC ELOB
4 VCB complex GO:0030891 8.62 ELOB CUL2

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of protein phosphorylation GO:0001934 9.67 HGF FNIP1 FLCN
2 positive regulation of protein kinase B signaling GO:0051897 9.65 MST1R MET HGF
3 tricarboxylic acid cycle GO:0006099 9.54 SDHB FH
4 regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061418 9.54 ELOC ELOB CUL2
5 negative regulation of TOR signaling GO:0032007 9.52 FNIP1 FLCN
6 translational elongation GO:0006414 9.51 ELOC ELOB
7 regulation of protein phosphorylation GO:0001932 9.5 FNIP2 FNIP1 FLCN
8 negative regulation of Rho protein signal transduction GO:0035024 9.46 MET FLCN
9 negative regulation of TORC1 signaling GO:1904262 9.43 FNIP2 FNIP1
10 TOR signaling GO:0031929 9.4 FNIP1 FLCN
11 negative regulation of hydrogen peroxide-mediated programmed cell death GO:1901299 9.26 MET HGF
12 regulation of pro-B cell differentiation GO:2000973 9.16 FNIP1 FLCN
13 hepatocyte growth factor receptor signaling pathway GO:0048012 9.13 MST1R MET HGF
14 negative regulation of mitochondrion organization GO:0010823 8.8 FNIP2 FNIP1 FLCN

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

# Name GO ID Score Top Affiliating Genes
1 ATPase inhibitor activity GO:0042030 8.62 FNIP2 FNIP1

Sources for Familial Renal Papillary Carcinoma

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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