MCID: FML029
MIFTS: 36

Familial Renal Papillary Carcinoma

Categories: Cancer diseases, Nephrological diseases, Genetic 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 73
Papillary Renal Cancer Hereditary 55

Classifications:



External Ids:

Disease Ontology 12 DOID:6163
NCIt 50 C9222
UMLS 73 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 deafness, autosomal recessive 39, 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 Innate Immune System and HIV Life Cycle. The drug Lactitol has been mentioned in the context of this disorder. Related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Related Diseases for Familial Renal Papillary Carcinoma

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

GenomeRNAi Phenotypes related to Familial Renal Papillary Carcinoma according to GeneCards Suite gene sharing:

26 (show all 30)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.87 TPR
2 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.87 MET
3 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.87 AKT2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-110 9.87 AKT2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.87 MET TPR
6 Increased shRNA abundance (Z-score > 2) GR00366-A-118 9.87 EGFR
7 Increased shRNA abundance (Z-score > 2) GR00366-A-121 9.87 TPR EGFR
8 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.87 RET
9 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.87 RET
10 Increased shRNA abundance (Z-score > 2) GR00366-A-159 9.87 AKT2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.87 MET RET
12 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.87 RET
13 Increased shRNA abundance (Z-score > 2) GR00366-A-185 9.87 MET
14 Increased shRNA abundance (Z-score > 2) GR00366-A-189 9.87 MET
15 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.87 EGFR
16 Increased shRNA abundance (Z-score > 2) GR00366-A-201 9.87 MET
17 Increased shRNA abundance (Z-score > 2) GR00366-A-205 9.87 TPR
18 Increased shRNA abundance (Z-score > 2) GR00366-A-21 9.87 EGFR
19 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.87 EGFR
20 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.87 RET
21 Increased shRNA abundance (Z-score > 2) GR00366-A-36 9.87 AKT2
22 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.87 MET
23 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.87 EGFR
24 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.87 RET
25 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.87 MET
26 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.87 RET
27 Increased shRNA abundance (Z-score > 2) GR00366-A-80 9.87 MET
28 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.87 MET RET AKT2 EGFR TPR
29 Increased cell viability after pRB stimulation GR00230-A-1 9.46 MET RET AKT2 EGFR
30 Increased mitotic index GR00110-A-0 9.13 MET AKT2 RET

MGI Mouse Phenotypes related to Familial Renal Papillary Carcinoma:

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.18 EGFR HIF1A FH RET FLCN MET
2 growth/size/body region MP:0005378 10.17 RET MET FLCN TSC2 AKT2 HGF
3 cardiovascular system MP:0005385 10.1 NGF EGFR HIF1A RET FLCN MET
4 mortality/aging MP:0010768 10.1 RET FH MET FLCN TPR TSC2
5 embryo MP:0005380 10.06 RET MET FLCN TSC2 HGF MITF
6 hematopoietic system MP:0005397 10.06 EGFR HIF1A RET FLCN AKT2 TSC2
7 liver/biliary system MP:0005370 9.91 HIF1A MET AKT2 TSC2 HGF MST1
8 neoplasm MP:0002006 9.8 RET MET FLCN TSC2 AKT2 EGFR
9 no phenotypic analysis MP:0003012 9.7 RET MET AKT2 MITF HGF NGF
10 normal MP:0002873 9.56 NGF EGFR HIF1A RET MET AKT2
11 renal/urinary system MP:0005367 9.17 FH RET MET FLCN TSC2 EGFR

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
Lactitol Investigational Phase 2 585-86-4 3871

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase II Study of GSK1363089 (Formerly XL880) for Papillary Renal-Cell Carcinoma (PRC) Completed NCT00726323 Phase 2 foretinib (formerly GSK1363089 or XL880)
2 A Phase 2 Study of the MET Kinase Inhibitor INC280 in Papillary Renal Cell Cancer Recruiting NCT02019693 Phase 2 INC280

Search NIH Clinical Center for Familial Renal Papillary Carcinoma

Genetic Tests for Familial Renal Papillary Carcinoma

Anatomical Context for Familial Renal Papillary Carcinoma

Publications for Familial Renal Papillary Carcinoma

Articles related to Familial Renal Papillary Carcinoma:

# Title Authors Year
1
Novel germline c-MET mutation in a family with hereditary papillary renal carcinoma. ( 22717761 )
2012
2
Common pattern of unusual chromosome abnormalities in hereditary papillary renal carcinoma. ( 16434318 )
2006
3
Hereditary papillary renal carcinoma type I. ( 15579033 )
2004
4
Early onset hereditary papillary renal carcinoma: germline missense mutations in the tyrosine kinase domain of the met proto-oncogene. ( 15371818 )
2004
5
Hereditary papillary renal carcinoma: pathology and pathogenesis. ( 10597374 )
1999
6
Two North American families with hereditary papillary renal carcinoma and identical novel mutations in the MET proto-oncogene. ( 9563489 )
1998

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

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

(show all 45)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.93 AKT2 CUL2 EGFR ELOB ELOC HGF
2
Show member pathways
13.63 AKT2 EGFR ELOB ELOC HGF MET
3
Show member pathways
13.34 AKT2 CUL2 EGFR ELOB ELOC HGF
4
Show member pathways
13.33 AKT2 CUL2 EGFR ELOB ELOC HGF
5
Show member pathways
13.28 EGFR HGF HIF1A MET RET TPR
6
Show member pathways
13.06 CUL2 ELOB ELOC HIF1A TPR TSC2
7
Show member pathways
13.04 AKT2 EGFR HGF MET NGF TSC2
8
Show member pathways
12.98 AKT2 EGFR HGF MET NGF
9
Show member pathways
12.96 EGFR HGF HIF1A MET NGF TSC2
10
Show member pathways
12.88 AKT2 EGFR HGF MET NGF TSC2
11
Show member pathways
12.8 AKT2 EGFR RET TPR TSC2
12
Show member pathways
12.77 AKT2 EGFR HGF HIF1A MET TSC2
13 12.69 AKT2 EGFR HGF MET NGF
14
Show member pathways
12.66 AKT2 EGFR HGF MET NGF
15
Show member pathways
12.65 AKT2 EGFR HGF MET TSC2
16
Show member pathways
12.58 AKT2 EGFR HGF MET MITF TSC2
17
Show member pathways
12.33 AKT2 EGFR HIF1A TSC2
18
Show member pathways
12.32 AKT2 EGFR FLCN MET TSC2
19 12.12 AKT2 CUL2 EGFR ELOB ELOC FH
20 12.11 AKT2 EGFR HGF HIF1A MET
21
Show member pathways
12.1 AKT2 CUL2 EGFR ELOB ELOC FH
22 12.09 AKT2 EGFR MET TSC2
23
Show member pathways
12.04 AKT2 EGFR TSC2
24
Show member pathways
12.01 EGFR MET TSC2
25
Show member pathways
12.01 AKT2 EGFR HGF MET NGF
26 12 CUL2 ELOB ELOC
27 11.98 HGF MET MITF
28 11.97 AKT2 HIF1A TSC2
29 11.96 EGFR HGF MET TSC2
30
Show member pathways
11.95 AKT2 MET TSC2
31 11.91 AKT2 HIF1A TSC2
32 11.89 AKT2 EGFR TSC2
33
Show member pathways
11.8 EGFR HGF MET
34 11.63 AKT2 CUL2 EGFR ELOB ELOC HIF1A
35 11.53 AKT2 EGFR HIF1A MET RET
36 11.4 CUL2 ELOB ELOC HIF1A
37
Show member pathways
11.38 EGFR HGF MET
38 11.35 EGFR HGF MET
39 11.26 EGFR HGF MET
40 11.18 EGFR MET MST1
41 11.13 EGFR HGF MET
42 10.96 AKT2 EGFR
43 10.9 HGF MET
44 10.73 CUL2 ELOB ELOC HIF1A
45 10.6 ELOB ELOC

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 Cul2-RING ubiquitin ligase complex GO:0031462 9.16 CUL2 ELOB
2 elongin complex GO:0070449 8.96 ELOB ELOC
3 VCB complex GO:0030891 8.62 CUL2 ELOB

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 post-translational protein modification GO:0043687 9.88 CUL2 ELOB ELOC HIF1A
2 positive regulation of gene expression GO:0010628 9.88 HIF1A MITF MST1 NGF RET
3 MAPK cascade GO:0000165 9.84 EGFR HGF MET RET
4 positive regulation of cell migration GO:0030335 9.8 AKT2 EGFR HGF RET
5 peptidyl-tyrosine phosphorylation GO:0018108 9.76 EGFR HGF MET RET
6 negative regulation of signal transduction GO:0009968 9.75 EGFR MET RET
7 phosphatidylinositol phosphorylation GO:0046854 9.74 EGFR HGF MET
8 positive regulation of protein phosphorylation GO:0001934 9.73 AKT2 EGFR FLCN HGF
9 liver development GO:0001889 9.7 EGFR HGF MET
10 positive regulation of kinase activity GO:0033674 9.69 EGFR MET RET
11 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.62 EGFR MET NGF RET
12 negative regulation of Rho protein signal transduction GO:0035024 9.59 FLCN MET
13 digestive tract morphogenesis GO:0048546 9.56 EGFR HIF1A
14 positive chemotaxis GO:0050918 9.54 HGF MET TSC2
15 regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061418 9.46 CUL2 ELOB ELOC HIF1A
16 negative regulation of TOR signaling GO:0032007 9.43 FLCN HIF1A TSC2
17 negative regulation of hydrogen peroxide-mediated programmed cell death GO:1901299 9.4 HGF MET
18 negative regulation of apoptotic process GO:0043066 9.23 AKT2 EGFR HGF HIF1A MET MITF
19 hepatocyte growth factor receptor signaling pathway GO:0048012 9.13 HGF MET MST1
20 positive regulation of transcription by RNA polymerase II GO:0045944 10.02 EGFR FLCN HGF HIF1A MET MITF

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

# Name GO ID Score Top Affiliating Genes
1 ubiquitin protein ligase binding GO:0031625 9.73 CUL2 EGFR ELOB HIF1A
2 MAP kinase kinase kinase activity GO:0004709 9.58 EGFR MET RET
3 mitogen-activated protein kinase kinase binding GO:0031434 9.54 EGFR MET RET
4 protein binding GO:0005515 9.53 AKT2 CUL2 EGFR ELOB ELOC FH
5 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.5 EGFR HGF MET
6 protein tyrosine kinase activity GO:0004713 9.46 EGFR HGF MET RET
7 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.43 EGFR MET RET
8 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.26 EGFR HGF MET RET

Sources for Familial Renal Papillary Carcinoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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