MCID: FML029
MIFTS: 40

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 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. Affiliated tissues include lung, skin and kidney, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

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 27)
# Related Disease Score Top Affiliating Genes
1 renal cell carcinoma, papillary, 1 31.6 ELOC FH MET MITF
2 deafness, autosomal recessive 39 10.2 HGF MET
3 fumarate hydratase deficiency 10.2 FH HIF1A
4 deafness, autosomal recessive 97 10.2 HGF MET
5 endometrial squamous cell carcinoma 10.2 HGF MET
6 large cell medulloblastoma 10.2 HGF MET
7 familial renal oncocytoma 10.2 FH FLCN MET
8 multilocular clear cell renal cell carcinoma 10.1 FLCN TSC2
9 hereditary leiomyomatosis and renal cell cancer 10.1 FH HIF1A
10 kidney angiomyolipoma 10.1 FLCN TSC2
11 ependymoblastoma 10.1 MET NGF
12 doxorubicin induced cardiomyopathy 10.1 EGFR HGF MET
13 spinal chordoma 10.1 EGFR HGF MET
14 salivary gland carcinoma 10.1 EGFR HGF MET
15 kidney cancer 10.0 FH FLCN HIF1A MET
16 hereditary renal cell carcinoma 10.0 FH FLCN MET TSC2
17 kidney benign neoplasm 10.0 FLCN TSC2
18 waardenburg syndrome, type 4a 10.0 MITF RET
19 large intestine cancer 9.9 EGFR HGF HIF1A MET
20 lung cancer susceptibility 3 9.9 EGFR HGF HIF1A MET
21 differentiated thyroid carcinoma 9.9 EGFR MET RET TPR
22 clear cell renal cell carcinoma 9.9 ELOB FLCN HIF1A MET
23 glioblastoma 9.8 AKT2 EGFR HIF1A MET
24 pheochromocytoma 9.8 FH HIF1A NGF RET
25 hirschsprung disease 1 9.7 MITF RET TSC2
26 von hippel-lindau syndrome 9.6 CUL2 ELOB HIF1A RET TSC2
27 renal cell carcinoma, nonpapillary 9.0 EGFR ELOB ELOC FH FLCN HGF

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 29)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.84 TPR
2 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.84 MET
3 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.84 AKT2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-110 9.84 AKT2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-118 9.84 EGFR
6 Increased shRNA abundance (Z-score > 2) GR00366-A-121 9.84 EGFR TPR
7 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.84 RET
8 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.84 RET
9 Increased shRNA abundance (Z-score > 2) GR00366-A-159 9.84 AKT2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.84 MET RET
11 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.84 RET
12 Increased shRNA abundance (Z-score > 2) GR00366-A-185 9.84 MET
13 Increased shRNA abundance (Z-score > 2) GR00366-A-189 9.84 MET
14 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.84 EGFR
15 Increased shRNA abundance (Z-score > 2) GR00366-A-201 9.84 MET
16 Increased shRNA abundance (Z-score > 2) GR00366-A-205 9.84 TPR
17 Increased shRNA abundance (Z-score > 2) GR00366-A-21 9.84 EGFR
18 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.84 EGFR
19 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.84 RET
20 Increased shRNA abundance (Z-score > 2) GR00366-A-36 9.84 AKT2
21 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.84 MET
22 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.84 EGFR
23 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.84 RET
24 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.84 MET
25 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.84 RET
26 Increased shRNA abundance (Z-score > 2) GR00366-A-80 9.84 MET
27 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.84 AKT2 EGFR MET RET TPR
28 Increased cell viability after pRB stimulation GR00230-A-1 9.46 AKT2 EGFR MET RET
29 Increased mitotic index GR00110-A-0 9.13 AKT2 MET 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 AKT2 EGFR FH FLCN HGF HIF1A
2 growth/size/body region MP:0005378 10.17 AKT2 EGFR FLCN HGF HIF1A MET
3 cardiovascular system MP:0005385 10.1 EGFR FLCN HGF HIF1A MET NGF
4 mortality/aging MP:0010768 10.1 AKT2 EGFR FH FLCN HGF HIF1A
5 embryo MP:0005380 10.06 EGFR FLCN HGF HIF1A MET MITF
6 hematopoietic system MP:0005397 10.06 AKT2 EGFR FLCN HGF HIF1A MITF
7 liver/biliary system MP:0005370 9.91 AKT2 EGFR HGF HIF1A MET MST1
8 neoplasm MP:0002006 9.8 AKT2 EGFR FLCN HIF1A MET RET
9 no phenotypic analysis MP:0003012 9.7 AKT2 EGFR HGF MET MITF NGF
10 normal MP:0002873 9.56 AKT2 EGFR HIF1A MET MITF NGF
11 renal/urinary system MP:0005367 9.17 EGFR FH FLCN HIF1A MET RET

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

MalaCards organs/tissues related to Familial Renal Papillary Carcinoma:

41
Lung, Skin, Kidney, Heart, Tongue, Thyroid, Salivary Gland

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 47)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.89 AKT2 CUL2 EGFR ELOB ELOC HGF
2
Show member pathways
13.64 AKT2 EGFR ELOB ELOC HGF MET
3
Show member pathways
13.44 AKT2 CUL2 EGFR ELOB ELOC HGF
4
Show member pathways
13.3 AKT2 CUL2 EGFR ELOB ELOC HGF
5
Show member pathways
13.28 EGFR HGF HIF1A MET RET TPR
6
Show member pathways
13.07 CUL2 ELOB ELOC HIF1A TPR TSC2
7
Show member pathways
13.05 AKT2 EGFR HGF MET NGF TSC2
8
Show member pathways
12.99 AKT2 EGFR HGF MET NGF
9
Show member pathways
12.97 AKT2 EGFR ELOB ELOC HIF1A TSC2
10
Show member pathways
12.96 EGFR HGF HIF1A MET NGF TSC2
11
Show member pathways
12.9 AKT2 EGFR HGF MET NGF TSC2
12
Show member pathways
12.8 AKT2 EGFR RET TPR TSC2
13
Show member pathways
12.74 AKT2 EGFR HGF HIF1A MET TSC2
14 12.7 AKT2 EGFR HGF MET NGF
15
Show member pathways
12.67 AKT2 EGFR HGF MET NGF
16
Show member pathways
12.66 AKT2 EGFR HGF MET TSC2
17
Show member pathways
12.58 AKT2 EGFR HGF MET MITF TSC2
18
Show member pathways
12.34 AKT2 EGFR HIF1A TSC2
19
Show member pathways
12.32 AKT2 EGFR FLCN MET TSC2
20
Show member pathways
12.19 EGFR HGF MET NGF
21
Show member pathways
12.14 AKT2 EGFR MET TSC2
22 12.12 AKT2 CUL2 EGFR ELOB ELOC FH
23 12.11 AKT2 EGFR HGF HIF1A MET
24
Show member pathways
12.1 AKT2 CUL2 EGFR ELOB ELOC FH
25 12.07 AKT2 EGFR MET TSC2
26 12.05 EGFR MET RET
27
Show member pathways
12.04 AKT2 EGFR TSC2
28 12.01 CUL2 ELOB ELOC
29 11.99 HGF MET MITF
30
Show member pathways
11.99 AKT2 EGFR HGF MET NGF
31 11.97 AKT2 HIF1A TSC2
32 11.96 EGFR HGF MET TSC2
33 11.91 AKT2 HIF1A TSC2
34 11.89 AKT2 EGFR TSC2
35
Show member pathways
11.8 EGFR HGF MET
36 11.63 AKT2 CUL2 EGFR ELOB ELOC HIF1A
37 11.53 AKT2 EGFR HIF1A MET RET
38 11.4 CUL2 ELOB ELOC HIF1A
39
Show member pathways
11.39 EGFR HGF MET
40 11.35 EGFR HGF MET
41 11.26 EGFR HGF MET
42 11.18 EGFR MET MST1
43 11.13 EGFR HGF MET
44 10.96 AKT2 EGFR
45 10.91 HGF MET
46 10.73 CUL2 ELOB ELOC HIF1A
47 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 22)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.89 HIF1A MITF MST1 NGF RET
2 post-translational protein modification GO:0043687 9.88 CUL2 ELOB ELOC HIF1A
3 positive regulation of cell migration GO:0030335 9.83 AKT2 EGFR HGF RET
4 MAPK cascade GO:0000165 9.81 EGFR HGF MET RET
5 positive regulation of protein phosphorylation GO:0001934 9.78 AKT2 EGFR FLCN HGF
6 positive regulation of MAPK cascade GO:0043410 9.77 EGFR MET RET
7 negative regulation of signal transduction GO:0009968 9.76 EGFR MET RET
8 peptidyl-tyrosine phosphorylation GO:0018108 9.76 EGFR HGF MET RET
9 phosphatidylinositol phosphorylation GO:0046854 9.74 EGFR HGF MET
10 liver development GO:0001889 9.71 EGFR HGF MET
11 positive regulation of protein kinase B signaling GO:0051897 9.71 EGFR HGF MET RET
12 embryonic placenta development GO:0001892 9.61 EGFR HIF1A
13 positive chemotaxis GO:0050918 9.61 HGF MET TSC2
14 negative regulation of Rho protein signal transduction GO:0035024 9.59 FLCN MET
15 digestive tract morphogenesis GO:0048546 9.56 EGFR HIF1A
16 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.56 EGFR MET NGF RET
17 negative regulation of TOR signaling GO:0032007 9.5 FLCN HIF1A TSC2
18 negative regulation of hydrogen peroxide-mediated programmed cell death GO:1901299 9.37 HGF MET
19 hepatocyte growth factor receptor signaling pathway GO:0048012 9.33 HGF MET MST1
20 regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061418 9.26 CUL2 ELOB ELOC HIF1A
21 negative regulation of apoptotic process GO:0043066 9.23 AKT2 EGFR HGF HIF1A MET MITF
22 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 9.67 CUL2 EGFR ELOB HIF1A
2 protein binding GO:0005515 9.53 AKT2 CUL2 EGFR ELOB ELOC FH
3 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.5 EGFR HGF MET
4 protein tyrosine kinase activity GO:0004713 9.46 EGFR HGF MET RET
5 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.43 EGFR MET RET
6 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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