RCCP
MCID: PPL005
MIFTS: 54

Papillary Renal Cell Carcinoma (RCCP) malady

Genetic diseases, Rare diseases, Nephrological diseases, Cancer diseases categories

Summaries for Papillary Renal Cell Carcinoma

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9Disease Ontology, 48OMIM, 34MalaCards
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Disease Ontology:9 Papillary renal cell carcinoma is a renal cell carcinoma characterized as the second most common type of renal cell carcinoma. the cancerous cells form some projections in a finger shape, called papillae, in the tumor. this type of cancer is more common among african americans and has a good prognosis if treated with surgery in its early stages.

MalaCards: Papillary Renal Cell Carcinoma, also known as renal cell carcinoma, papillary, is related to metanephric adenoma and renal oncocytoma. An important gene associated with Papillary Renal Cell Carcinoma is PRCC (papillary renal cell carcinoma (translocation-associated)), and among its related pathways are Regulation of retinoblastoma protein and Renal cell carcinoma. The compounds fumarate and oligonucleotide have been mentioned in the context of this disorder. Affiliated tissues include kidney, thyroid and brain, and related mouse phenotypes are craniofacial and mortality/aging.

Description from OMIM:48 605074

Aliases & Classifications for Papillary Renal Cell Carcinoma

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9Disease Ontology, 44NIH Rare Diseases, 11DISEASES, 50Orphanet, 63UMLS, 10diseasecard, 48OMIM, 36MeSH, 59SNOMED-CT, 41NCIt, 64UMLS via Orphanet, 27ICD10 via Orphanet, 37MESH via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
familial papillary renal cell carcinoma:
Inheritance: Autosomal dominant; Age of onset: Adulthood


Aliases & Descriptions:

papillary renal cell carcinoma 9 44 11 50 63
renal cell carcinoma, papillary 10 48
papillary renal cell carcinoma, bilateral - 44
papillary renal cell carcinoma, familial - 44
papillary renal cell carcinoma, sporadic - 44
papillary renal cell carcinoma, multiple - 44
papillary renal cell carcinoma, sporadic 63
papillary renal cell carcinoma, familial 63
sporadic papillary renal cell carcinoma 9
familial papillary renal cell carcinoma 50
papillary renal carcinoma, malignant - 44
papillary renal cell adenocarcinoma 50
chromophil carcinoma of kidney 9
renal adenocarcinoma 44
rccp 44


External Ids:

Disease Ontology9 DOID:4465
OMIM48 605074
NCIt41 C6975
SNOMED-CT59 4797003
UMLS via Orphanet64 C1306837, C2931899
ICD10 via Orphanet27 C64
MESH via Orphanet37 C538614

Related Diseases for Papillary Renal Cell Carcinoma

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18GeneCards, 19GeneDecks
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Diseases in the Papillary Renal Cell Carcinoma family:

Renal Cell Carcinoma, Papillary, 3 Renal Cell Carcinoma, Papillary, 1

Diseases related to Papillary Renal Cell Carcinoma via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 80)
idRelated DiseaseScoreTop Affiliating Genes
1metanephric adenoma31.0KRT7
2renal oncocytoma30.7PRCC, KRT7, CDH16
3papillary adenoma30.7PRCC
4kidney cancer30.0TFE3, AMACR, PRCC, MET, MITF, FH
5synovial sarcoma29.9KRT7, MET
6renal cell carcinoma11.4
7clear cell papillary renal cell carcinoma10.9
8adenoma10.7
9spindle cell carcinoma10.5
10angiomyolipoma10.5
11hereditary leiomyomatosis and renal cell cancer10.5
12clear cell renal cell carcinoma10.5
13renal cell carcinoma, clear cell, somatic10.5
14mucinous tubular and spindle cell carcinoma10.5
15gastrointestinal stromal tumor10.4
16kidney disease10.4
17thyroiditis10.4
18tubulocystic carcinoma10.4
19polycystic kidney disease10.4
20von hippel-lindau disease10.4
21renal cell carcinoma, papillary, 1, familial and somatic10.4
22renal cell carcinoma, papillary, 310.4
23renal cell carcinoma, papillary, 110.4
24endotheliitis10.4
25adenoiditis10.2
26xanthogranulomatous pyelonephritis10.2
27collecting duct carcinoma10.2
28adenoid cystic carcinoma10.2
29crescentic glomerulonephritis10.2
30adenocarcinoma10.2
31cervicitis10.2
32cystic kidney10.2
33glomerulonephritis10.2
34glomerulosclerosis10.2
35leiomyomatosis10.2
36lipomatosis10.2
37nephroblastoma10.2
38neuropathy10.2
39pyelonephritis10.2
40vaginitis10.2
41pten hamartoma tumor syndrome10.2
42wilms tumor10.2
43castleman's disease10.2
44cerebellar degeneration10.2
45chromophil renal cell carcinoma10.2
46chromophobe renal cell carcinoma10.2
47horseshoe kidney10.2
48retroperitoneal fibrosis10.2
49hypoxia10.2
50teratoma10.2

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



Diseases related to papillary renal cell carcinoma

Symptoms for Papillary Renal Cell Carcinoma

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48OMIM
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Clinical features from OMIM:

605074

Drugs & Therapeutics for Papillary Renal Cell Carcinoma

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Papillary Renal Cell Carcinoma

Drug clinical trials:

Search ClinicalTrials for Papillary Renal Cell Carcinoma

Search NIH Clinical Center for Papillary Renal Cell Carcinoma

Search CenterWatch for Papillary Renal Cell Carcinoma

Genetic Tests for Papillary Renal Cell Carcinoma

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Anatomical Context for Papillary Renal Cell Carcinoma

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34MalaCards
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MalaCards organs/tissues related to Papillary Renal Cell Carcinoma:

34
Kidney, Thyroid, Brain, Endothelial, Lymph node, Smooth muscle, Small intestine, Testes

Animal Models for Papillary Renal Cell Carcinoma or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Papillary Renal Cell Carcinoma:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.0MITF, MET, SCHIP1, TFE3
2MP:00107687.7FH, TFE3, SFPQ, SCHIP1, AMACR, MET

Publications for Papillary Renal Cell Carcinoma

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53PubMed
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Articles related to Papillary Renal Cell Carcinoma:

(show top 50)    (show all 246)
idTitleAuthorsYear
1
Clear cell papillary renal cell carcinoma is the fourth most common histologic type of renal cell carcinoma in 290 consecutive nephrectomies for renal cell carcinoma. (24182559)
2014
2
Tumor-associated macrophages are involved in tumor progression in papillary renal cell carcinoma. (24327306)
2013
3
Gene expression profiling of clear cell papillary renal cell carcinoma: comparison with clear cell renal cell carcinoma and papillary renal cell carcinoma. (23887297)
2013
4
Gastrointestinal stromal tumor of small intestine and synchronous bilateral papillary renal cell carcinoma. (24195178)
2013
5
Prognostic implications of the magnetic resonance imaging appearance in papillary renal cell carcinoma. (22903703)
2013
6
Bilateral papillary renal cell carcinoma and angiomyolipoma in the patients with autosomal dominant polycystic kidney disease: case report of two cases and literature review. (24375046)
2013
7
Comparison of the 2002 and 2010 TNM classification systems regarding outcome prediction in clear cell and papillary renal cell carcinoma. (23020176)
2013
8
A novel oncocytoid papillary renal cell carcinoma, type 2, with aberrant cytogenetic abnormalities: oncocytic papillary renal cell carcinoma? (23635826)
2013
9
Renal replacement lipomatosis with coexistent papillary renal cell carcinoma, renal tubulopapillary adenomatosis, and xanthogranulomatous pyelonephritis: an extremely rare association and possible pathogenetic correlation. (23801477)
2013
10
Prolonged survival of a patient with papillary renal cell carcinoma and brain metastases using pazopanib. (23319695)
2013
11
Renal-cell carcinomas in end-stage kidneys: a clinicopathological study with emphasis on clear-cell papillary renal-cell carcinoma and acquired cystic kidney disease-associated carcinoma. (21791489)
2012
12
Papillary renal cell carcinoma in the transplanted kidney - a case report focusing on contrast enhanced ultrasound features. (22957332)
2012
13
Clear cell papillary renal cell carcinoma: a report of 15 cases including three cases of concurrent other-type renal cell carcinomas. (23323104)
2012
14
A case of ossifying papillary renal cell carcinoma. (22748893)
2012
15
Clear cell papillary renal cell carcinoma in the bilateral native kidneys after 2a88years of renal transplantation: report of a case and review of the literature. (23198258)
2011
16
Papillary renal cell carcinoma with extensive paraaortic nodal metastasis mimicking malignant lymphoma. (21960003)
2011
17
Case of hereditary papillary renal cell carcinoma. (23882344)
2011
18
Succination of Keap1 and activation of Nrf2-dependent antioxidant pathways in FH-deficient papillary renal cell carcinoma type 2. (22014567)
2011
19
Tubulocystic carcinoma of kidney associated with papillary renal cell carcinoma. (21393894)
2011
20
Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma. (21398687)
2011
21
Paraneoplastic optic neuropathy associated with papillary renal cell carcinoma. (19515641)
2010
22
The utility of PAX-2 and renal cell carcinoma marker immunohistochemistry in distinguishing papillary renal cell carcinoma from nonrenal cell neoplasms with papillary features. (21102195)
2010
23
Papillary renal cell carcinoma with diffuse clear cells and thyroid-like macrofollicular areas. (20637436)
2010
24
Typical signs of oncocytic papillary renal cell carcinoma in everyday clinical praxis. (20454896)
2010
25
Onconeuronal cerebellar degeneration-related antigen, Cdr2, is strongly expressed in papillary renal cell carcinoma and leads to attenuated hypoxic response. (19581925)
2009
26
Is there a role of the histologic subtypes of papillary renal cell carcinoma as a prognostic factor? (19586962)
2009
27
Dynamic contrast-enhanced magnetic resonance imaging of vascular changes induced by sunitinib in papillary renal cell carcinoma xenograft tumors. (19724685)
2009
28
Prognostic factors in a prospective series of papillary renal cell carcinoma. (18489525)
2008
29
Differentiation of pathologic subtypes of papillary renal cell carcinoma on CT. (18941101)
2008
30
Differential expression of prognostic markers in histological subtypes of papillary renal cell carcinoma. (18422770)
2008
31
Coexistence of papillary renal cell carcinoma and gastrointestinal stromal tumor in a case. (17450496)
2007
32
Role of PSF-TFE3 oncoprotein in the development of papillary renal cell carcinomas. (16832349)
2007
33
Papillary renal cell carcinoma within a renal oncocytoma: case report of an incidental finding of a tumour within a tumour. (17405978)
2007
34
Detection of DNA copy number changes and oncogenic signaling abnormalities from gene expression data reveals MYC activation in high-grade papillary renal cell carcinoma. (17409424)
2007
35
Synchronous collecting duct carcinoma and papillary renal cell carcinoma: a case report and review of the literature. (15816631)
2005
36
A molecular classification of papillary renal cell carcinoma. (15994935)
2005
37
Expression of alpha-methylacyl-CoA racemase in papillary renal cell carcinoma. (14707866)
2004
38
Papillary renal cell carcinoma in a child. (15543486)
2004
39
The largest reported papillary renal cell carcinoma. (15736367)
2002
40
Bilateral papillary renal cell carcinoma. (11218021)
2001
41
Genomic structure, chromosomal localization, and embryonic expression of the mouse homolog of PRCC, a gene associated with papillary renal cell carcinoma. (11435707)
2001
42
Solid variant of papillary renal cell carcinoma. (11725629)
2001
43
Papillary renal cell carcinoma presenting as nodal metastases to the neck. (10746990)
1999
44
Papillary renal cell carcinoma: a clinicopathologic and immunohistochemical study of 105 tumors. (9195569)
1997
45
Simultaneous chromosome 7 and 17 gain and sex chromosome loss provide evidence that renal metanephric adenoma is related to papillary renal cell carcinoma. (9224305)
1997
46
Mutation of the VHL gene is associated exclusively with the development of non-papillary renal cell carcinomas. (8758207)
1996
47
Fusion of the transcription factor TFE3 gene to a novel gene, PRCC, in t(X;1)(p11;q21)-positive papillary renal cell carcinomas. (8986805)
1996
48
Mapping the X chromosome breakpoint in two papillary renal cell carcinoma cell lines with a t(X;1)(p11.2;q21.2) and the first report of a female case. (7587394)
1995
49
Nonpapillary and papillary renal cell carcinoma: a cytogenetic and phenotypic study. (8415591)
1993
50
Papillary renal cell carcinoma six years after renal cystectomy. (1274012)
1976

Variations for Papillary Renal Cell Carcinoma

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Papillary Renal Cell Carcinoma:

65 (show all 15)
id Symbol AA change Variation ID SNP ID
1METp.Met1131ThrVAR_006286
2METp.Val1188LeuVAR_006287
3METp.Leu1195ValVAR_006288
4METp.Val1220IleVAR_006289
5METp.Asp1228AsnVAR_006290
6METp.Asp1228HisVAR_006291
7METp.Tyr1230CysVAR_006292
8METp.Tyr1230HisVAR_006293
9METp.Met1250ThrVAR_006294
10METp.Val1092IleVAR_032485
11METp.His1094LeuVAR_032486
12METp.His1094ArgVAR_032487
13METp.His1094TyrVAR_032488
14METp.His1106AspVAR_032489
15METp.Tyr1230AspVAR_032491

Clinvar genetic disease variations for Papillary Renal Cell Carcinoma:

1
id Gene Name Type Significance SNP ID Assembly Location
1METNM_001127500.1(MET): c.3446T> C (p.Met1149Thr)single nucleotide variantPathogenicrs121913668GRCh37Chr 7, 116418881: 116418881
2METNM_001127500.1(MET): c.3616G> T (p.Val1206Leu)single nucleotide variantPathogenicrs121913669GRCh37Chr 7, 116422081: 116422081
3METNM_001127500.1(MET): c.3712G> A (p.Val1238Ile)single nucleotide variantPathogenicrs121913670GRCh37Chr 7, 116423383: 116423383
4METNM_001127500.1(MET): c.3736G> A (p.Asp1246Asn)single nucleotide variantPathogenicrs121913671GRCh37Chr 7, 116423407: 116423407
5METNM_001127500.1(MET): c.3743A> G (p.Tyr1248Cys)single nucleotide variantPathogenicrs121913246GRCh37Chr 7, 116423414: 116423414
6METNM_001127500.1(MET): c.3637C> G (p.Leu1213Val)single nucleotide variantPathogenicrs121913673GRCh37Chr 7, 116422102: 116422102
7METNM_001127500.1(MET): c.3335A> G (p.His1112Arg)single nucleotide variantPathogenicrs121913243GRCh37Chr 7, 116417464: 116417464

Expression for genes affiliated with Papillary Renal Cell Carcinoma

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Papillary Renal Cell Carcinoma

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

Pathways for genes affiliated with Papillary Renal Cell Carcinoma

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51PathCards, 39NCBI BioSystems Database, 31KEGG
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Pathways related to Papillary Renal Cell Carcinoma according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9MITF, MET
29.9FH, MET
39.6MET, MITF, FH
49.5MET, PRCC, TFE3

Compounds for genes affiliated with Papillary Renal Cell Carcinoma

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46Novoseek, 12DrugBank, 30IUPHAR, 62Tocris Bioscience, 25HMDB
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Compounds related to Papillary Renal Cell Carcinoma according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1fumarate46 1210.9AMACR, FH
2oligonucleotide469.2AMACR, SAGE1, MET, MITF
3streptavidin469.1KRT7, AMACR
4paraffin469.0AMACR, MET, MITF, KRT7
5progesterone46 30 62 25 1212.7KRT7, MET, AMACR, SFPQ
6tyrosine468.5KRT7, FH, MITF, MET, AMACR
7glucose468.4KRT7, FH, MET, AMACR, TFE3
8testosterone46 62 25 1211.4NONO, KRT7, MET, AMACR, SFPQ

GO Terms for genes affiliated with Papillary Renal Cell Carcinoma

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17Gene Ontology
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Cellular components related to Papillary Renal Cell Carcinoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1paraspecklesGO:0423829.6NONO, SFPQ

Biological processes related to Papillary Renal Cell Carcinoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1regulation of osteoclast differentiationGO:0456709.8MITF, TFE3

Products for genes affiliated with Papillary Renal Cell Carcinoma

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Sources for Papillary Renal Cell Carcinoma

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet