RCCP
MCID: PPL005
MIFTS: 61

Papillary Renal Cell Carcinoma (RCCP) malady

Genetic diseases, Rare diseases, Nephrological diseases, Cancer diseases categories
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Summaries for Papillary Renal Cell Carcinoma

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Disease Ontology:8 A renal cell carcinoma that is characterized by the development of multiple, bilateral papillary renal tumors.

MalaCards based summary: Papillary Renal Cell Carcinoma, also known as renal cell carcinoma, papillary, is related to metanephric adenoma and papillary adenoma, and has symptoms including 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 drugs medroxyprogesterone and medroxyprogesterone acetate and 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:46 605074

Aliases & Classifications for Papillary Renal Cell Carcinoma

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Sources:
30LifeMap Discovery®, 8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 48Orphanet, 62UMLS, 20GeneTests, 9diseasecard, 46OMIM, 34MeSH, 57SNOMED-CT, 39NCIt, 26ICD10 via Orphanet, 63UMLS via Orphanet, 35MESH via Orphanet
See all sources

Papillary Renal Cell Carcinoma, Aliases & Descriptions:

Name: Papillary Renal Cell Carcinoma 30 8 42 10 48 62
Renal Cell Carcinoma, Papillary 9 46
Chromophil Carcinoma of Kidney 8 62
Papillary Kidney Carcinoma 8 20
Papillary Renal Cell Carcinoma, Bilateral - 42
Papillary Renal Cell Carcinoma, Familial - 42
Papillary Renal Cell Carcinoma, Sporadic - 42
Papillary Renal Cell Carcinoma, Multiple - 42
Papillary Renal Cell Carcinoma, Sporadic 62
 
Papillary Renal Cell Carcinoma, Familial 62
Sporadic Papillary Renal Cell Carcinoma 8
Familial Papillary Renal Cell Carcinoma 48
Papillary Renal Carcinoma, Malignant - 42
Papillary Renal Cell Adenocarcinoma 48
Adenocarcinoma, Renal 62
Renal Adenocarcinoma 42
Rccp 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
familial papillary renal cell carcinoma:
Inheritance: Autosomal dominant; Age of onset: Adulthood


External Ids:

Disease Ontology8 DOID:4465
OMIM46 605074
NCIt39 C6975
SNOMED-CT57 4797003
ICD10 via Orphanet26 C64
UMLS via Orphanet63 C1306837, C2931899
MESH via Orphanet35 C538614

Related Diseases for Papillary Renal Cell Carcinoma

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Diseases in the Papillary Renal Cell Carcinoma family:

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 77)
idRelated DiseaseScoreTop Affiliating Genes
1metanephric adenoma31.6KRT7
2papillary adenoma31.3PRCC
3cystadenoma31.0KRT7
4renal oncocytoma31.0CDH16, KRT7, PRCC
5synovial sarcoma30.0MET, KRT7
6kidney cancer29.0MET, AMACR, CDH16, KRT7, PRCC, FH
7renal cell carcinoma11.4
8clear cell papillary renal cell carcinoma11.0
9adenoma10.7
10clear cell renal cell carcinoma10.6
11spindle cell carcinoma10.5
12angiomyolipoma10.5
13hereditary leiomyomatosis and renal cell cancer10.5
14renal cell carcinoma, clear cell, somatic10.5
15mucinous tubular and spindle cell carcinoma10.5
16gastrointestinal stromal tumor10.5
17kidney disease10.5
18thyroiditis10.5
19tubulocystic carcinoma10.5
20chordoma10.4KRT7
21alveolar soft part sarcoma10.4PRCC, TFE3
22von hippel-lindau disease10.4
23polycystic kidney disease10.4
24pyelonephritis10.4
25renal cell carcinoma, papillary, 1, familial and somatic10.4
26renal cell carcinoma, papillary, 110.4
27endotheliitis10.4
28nephrogenic adenoma10.3AMACR, KRT7
29perivascular epithelioid cell tumor10.3MITF, TFE3
30barrett's esophagus10.3AMACR, KRT7
31chromophobe renal cell carcinoma10.2
32glomerulonephritis10.2
33wilms tumor10.2
34crescentic glomerulonephritis10.2
35adenoiditis10.2
36collecting duct carcinoma10.2
37xanthogranulomatous pyelonephritis10.2
38adenocarcinoma10.2
39cervicitis10.2
40cystic kidney10.2
41glomerulosclerosis10.2
42leiomyomatosis10.2
43lipomatosis10.2
44lymphopenia10.2
45nephroblastoma10.2
46neuropathy10.2
47vaginitis10.2
48pten hamartoma tumor syndrome10.2
49castleman's disease10.2
50cerebellar degeneration10.2

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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Clinical features from OMIM:

605074

HPO human phenotypes related to Papillary Renal Cell Carcinoma:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 incomplete penetrance HP:0003829
3 papillary renal cell carcinoma HP:0006766

Drugs & Therapeutics for Papillary Renal Cell Carcinoma

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Genetic Tests for Papillary Renal Cell Carcinoma

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Genetic tests related to Papillary Renal Cell Carcinoma:

id Genetic test Affiliating Genes
1 Papillary Renal Carcinoma20 MET

Anatomical Context for Papillary Renal Cell Carcinoma

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MalaCards organs/tissues related to Papillary Renal Cell Carcinoma:

32
Kidney, Thyroid, Brain, Endothelial, Bone, Lymph node, Smooth muscle, Small intestine, Testes

Animal Models for Papillary Renal Cell Carcinoma or affiliated genes

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MGI Mouse Phenotypes related to Papillary Renal Cell Carcinoma:

36
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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Articles related to Papillary Renal Cell Carcinoma:

(show top 50)    (show all 265)
idTitleAuthorsYear
1
Urologic Pathology: CBS25-1 CLEAR CELL PAPILLARY RENAL CELL CARCINOMA. (25188173)
2014
2
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
3
Papillary renal cell carcinoma: current progress and future directions. (24629521)
2014
4
Clear cell papillary renal cell carcinoma with angiomyomatous stroma: a histological, immunohistochemical, and fluorescence in situ hybridization study. (24771120)
2014
5
Clear cell papillary renal cell carcinoma: micro-RNA expression profiling and comparison with clear cell renal cell carcinoma and papillary renal cell carcinoma. (24703100)
2014
6
Tumor-associated macrophages are involved in tumor progression in papillary renal cell carcinoma. (24327306)
2013
7
Gene expression profiling of clear cell papillary renal cell carcinoma: comparison with clear cell renal cell carcinoma and papillary renal cell carcinoma. (23887297)
2013
8
Gastrointestinal stromal tumor of small intestine and synchronous bilateral papillary renal cell carcinoma. (24195178)
2013
9
Prognostic implications of the magnetic resonance imaging appearance in papillary renal cell carcinoma. (22903703)
2013
10
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
11
Comparison of the 2002 and 2010 TNM classification systems regarding outcome prediction in clear cell and papillary renal cell carcinoma. (23020176)
2013
12
A novel oncocytoid papillary renal cell carcinoma, type 2, with aberrant cytogenetic abnormalities: oncocytic papillary renal cell carcinoma? (23635826)
2013
13
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
14
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
15
Papillary renal cell carcinoma in the transplanted kidney - a case report focusing on contrast enhanced ultrasound features. (22957332)
2012
16
Clear cell papillary renal cell carcinoma: a report of 15 cases including three cases of concurrent other-type renal cell carcinomas. (23323104)
2012
17
A case of ossifying papillary renal cell carcinoma. (22748893)
2012
18
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
19
Papillary renal cell carcinoma with extensive paraaortic nodal metastasis mimicking malignant lymphoma. (21960003)
2011
20
Case of hereditary papillary renal cell carcinoma. (23882344)
2011
21
Succination of Keap1 and activation of Nrf2-dependent antioxidant pathways in FH-deficient papillary renal cell carcinoma type 2. (22014567)
2011
22
Tubulocystic carcinoma of kidney associated with papillary renal cell carcinoma. (21393894)
2011
23
Paraneoplastic optic neuropathy associated with papillary renal cell carcinoma. (19515641)
2010
24
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
25
Papillary renal cell carcinoma with diffuse clear cells and thyroid-like macrofollicular areas. (20637436)
2010
26
Typical signs of oncocytic papillary renal cell carcinoma in everyday clinical praxis. (20454896)
2010
27
Onconeuronal cerebellar degeneration-related antigen, Cdr2, is strongly expressed in papillary renal cell carcinoma and leads to attenuated hypoxic response. (19581925)
2009
28
Is there a role of the histologic subtypes of papillary renal cell carcinoma as a prognostic factor? (19586962)
2009
29
Dynamic contrast-enhanced magnetic resonance imaging of vascular changes induced by sunitinib in papillary renal cell carcinoma xenograft tumors. (19724685)
2009
30
Prognostic factors in a prospective series of papillary renal cell carcinoma. (18489525)
2008
31
Differentiation of pathologic subtypes of papillary renal cell carcinoma on CT. (18941101)
2008
32
Differential expression of prognostic markers in histological subtypes of papillary renal cell carcinoma. (18422770)
2008
33
Coexistence of papillary renal cell carcinoma and gastrointestinal stromal tumor in a case. (17450496)
2007
34
Role of PSF-TFE3 oncoprotein in the development of papillary renal cell carcinomas. (16832349)
2007
35
Papillary renal cell carcinoma within a renal oncocytoma: case report of an incidental finding of a tumour within a tumour. (17405978)
2007
36
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
37
Synchronous collecting duct carcinoma and papillary renal cell carcinoma: a case report and review of the literature. (15816631)
2005
38
Expression of alpha-methylacyl-CoA racemase in papillary renal cell carcinoma. (14707866)
2004
39
Papillary renal cell carcinoma in a child. (15543486)
2004
40
The largest reported papillary renal cell carcinoma. (15736367)
2002
41
Bilateral papillary renal cell carcinoma. (11218021)
2001
42
Genomic structure, chromosomal localization, and embryonic expression of the mouse homolog of PRCC, a gene associated with papillary renal cell carcinoma. (11435707)
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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UniProtKB/Swiss-Prot genetic disease variations for Papillary Renal Cell Carcinoma:

64 (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:

6
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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Expression patterns in normal tissues for genes affiliated with Papillary Renal Cell Carcinoma

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Pathways for genes affiliated with Papillary Renal Cell Carcinoma

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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
29.9MET, FH
39.6MET, MITF, FH
49.5MET, PRCC, TFE3

Compounds for genes affiliated with Papillary Renal Cell Carcinoma

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Sources:
44Novoseek, 11DrugBank, 28IUPHAR, 61Tocris Bioscience, 24HMDB
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Compounds related to Papillary Renal Cell Carcinoma according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1fumarate44 1110.9FH, AMACR
2oligonucleotide449.2AMACR, MITF, MET, SAGE1
3streptavidin449.1KRT7, AMACR
4paraffin449.0MET, AMACR, MITF, KRT7
5progesterone44 28 61 24 1112.7KRT7, MET, AMACR, SFPQ
6tyrosine448.5AMACR, MET, MITF, FH, KRT7
7glucose448.4MET, AMACR, FH, KRT7, TFE3
8testosterone44 61 24 1111.4MET, SFPQ, AMACR, NONO, KRT7

GO Terms for genes affiliated with Papillary Renal Cell Carcinoma

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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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  • Antibodies
  • Proteins
  • Lysates

Sources for Papillary Renal Cell Carcinoma

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet