MCID: RNL119
MIFTS: 30

Renal Cell Carcinoma, Xp11-Associated

Categories: Genetic diseases, Nephrological diseases, Rare diseases, Cancer diseases

Aliases & Classifications for Renal Cell Carcinoma, Xp11-Associated

MalaCards integrated aliases for Renal Cell Carcinoma, Xp11-Associated:

Name: Renal Cell Carcinoma, Xp11-Associated 57 29 73
Rccx1 57 75
Carcinoma Associated with Mitf/tfe Translocation 59
Mit Family Translocation Renal Cell Carcinoma 59
Carcinoma, Renal Cell, Papillary, Type 1 40
Carcinoma, Renal Cell, Xp11-Associated 40
Renal Cell Carcinoma Xp11-Associated 75
Renal Cell Carcinoma, Papillary, 1 57
Translocation Renal Cell Carcinoma 59
Renal Cell Carcinoma Papillary 1 75

Characteristics:

HPO:

32
renal cell carcinoma, xp11-associated:
Inheritance somatic mutation


Classifications:

Orphanet: 59  
Rare renal diseases


External Ids:

OMIM 57 300854
Orphanet 59 ORPHA319308
ICD10 via Orphanet 34 C64
MedGen 42 C3275446
MeSH 44 D002292
SNOMED-CT via HPO 69 124975008 41607009 702391001
UMLS 73 C3275446

Summaries for Renal Cell Carcinoma, Xp11-Associated

OMIM : 57 Xp11 translocation renal cell carcinomas (RCCX1) are a group of neoplasms distinguished by chromosomal translocations with breakpoints involving the TFE3 gene within tumor cells. The result is a TFE3 transcription factor gene fusion with 1 of multiple reported genes including ASPRCR1 (606236) on chromosome 17q25 and PRCC (179755) on 1q21, and more rarely, NONO (300084) on Xq13, SFPQ (605199) on 1p34, CLTC (118955) on 17q23, and unknown genes on chromosomes 3 and 10. Xp11 translocations are often found in pediatric tumors and less commonly in adults. However, adult cases may outnumber pediatric cases since renal cell carcinoma is more common in the adult population. Prior chemotherapy is a known risk factor for Xp11 translocations. Histology shows both clear cells and papillary architecture, often with abundant psammoma bodies, although variable histologic features have been observed (review by Ross and Argani, 2010). For a discussion of genetic heterogeneity of renal cell carcinoma, see RCC (144700). (300854)

MalaCards based summary : Renal Cell Carcinoma, Xp11-Associated, also known as rccx1, is related to renal cell carcinoma, papillary, 1 and renal cell carcinoma, nonpapillary. An important gene associated with Renal Cell Carcinoma, Xp11-Associated is TFE3 (Transcription Factor Binding To IGHM Enhancer 3), and among its related pathways/superpathways are Transcriptional misregulation in cancer and Mitophagy - animal. Affiliated tissues include kidney, and related phenotype is renal cell carcinoma.

UniProtKB/Swiss-Prot : 75 Renal cell carcinoma Xp11-associated: Renal cell carcinoma is a heterogeneous group of sporadic or hereditary carcinoma derived from cells of the proximal renal tubular epithelium. It is subclassified into clear cell renal carcinoma (non- papillary carcinoma), papillary renal cell carcinoma, chromophobe renal cell carcinoma, collecting duct carcinoma with medullary carcinoma of the kidney, and unclassified renal cell carcinoma. RCCX1 histology shows both clear cells and papillary architecture, often with abundant psammoma bodies, although variable histologic features have been observed.

Related Diseases for Renal Cell Carcinoma, Xp11-Associated

Diseases related to Renal Cell Carcinoma, Xp11-Associated via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 renal cell carcinoma, papillary, 1 32.8 PRCC TFE3
2 renal cell carcinoma, nonpapillary 29.4 PRCC TFE3 TFEB
3 mucinous tubular and spindle renal cell carcinoma 10.1 PRCC TFE3
4 xanthogranulomatous pyelonephritis 10.0 PRCC TFE3
5 muscle cancer 9.5 ASPSCR1 TFE3
6 alveolar soft part sarcoma 9.4 ASPSCR1 TFE3
7 childhood kidney cell carcinoma 8.6 ASPSCR1 PRCC TFE3 TFEB

Graphical network of the top 20 diseases related to Renal Cell Carcinoma, Xp11-Associated:



Diseases related to Renal Cell Carcinoma, Xp11-Associated

Symptoms & Phenotypes for Renal Cell Carcinoma, Xp11-Associated

Clinical features from OMIM:

300854

Human phenotypes related to Renal Cell Carcinoma, Xp11-Associated:

32
# Description HPO Frequency HPO Source Accession
1 renal cell carcinoma 32 HP:0005584

Drugs & Therapeutics for Renal Cell Carcinoma, Xp11-Associated

Search Clinical Trials , NIH Clinical Center for Renal Cell Carcinoma, Xp11-Associated

Genetic Tests for Renal Cell Carcinoma, Xp11-Associated

Genetic tests related to Renal Cell Carcinoma, Xp11-Associated:

# Genetic test Affiliating Genes
1 Renal Cell Carcinoma, Xp11-Associated 29 TFE3

Anatomical Context for Renal Cell Carcinoma, Xp11-Associated

MalaCards organs/tissues related to Renal Cell Carcinoma, Xp11-Associated:

41
Kidney

Publications for Renal Cell Carcinoma, Xp11-Associated

Articles related to Renal Cell Carcinoma, Xp11-Associated:

# Title Authors Year
1
[Renal carcinoma associated with MiTF/TFE translocation: report of six cases in young adults]. ( 18538271 )
2008

Variations for Renal Cell Carcinoma, Xp11-Associated

Cosmic variations for Renal Cell Carcinoma, Xp11-Associated:

9
(show top 50) (show all 717)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM25676 VHL kidney,NS,carcinoma,renal cell c.485G>T p.C162F 3:10149808-10149808 24
2 COSM27269 UMPS kidney,NS,carcinoma,renal cell c.528G>A p.L176L 3:124737785-124737785 24
3 COSM30474 TRIO kidney,NS,carcinoma,renal cell c.9008A>G p.N3003S 5:14508136-14508136 24
4 COSM26594 RNF144A kidney,NS,carcinoma,renal cell c.410C>T p.A137V 2:7020581-7020581 24
5 COSM26987 RGS7 kidney,NS,carcinoma,renal cell c.169T>C p.F57L 1:241098672-241098672 24
6 COSM26614 RABGAP1 kidney,NS,carcinoma,renal cell c.1533T>A p.H511Q 9:123020414-123020414 24
7 COSM30530 PTPN22 kidney,NS,carcinoma,renal cell c.209G>C p.R70P 1:113859066-113859066 24
8 COSM27618 KMT2A kidney,NS,carcinoma,renal cell c.5711C>T p.A1904V 11:118497991-118497991 24
9 COSM30502 ITPR3 kidney,NS,carcinoma,renal cell c.4574G>T p.C1525F 6:33682621-33682621 24
10 COSM28415 DOCK1 kidney,NS,carcinoma,renal cell c.1306G>T p.D436Y 10:127023241-127023241 24
11 COSM30531 COPS4 kidney,NS,carcinoma,renal cell c.385G>C p.G129R 4:83049959-83049959 24
12 COSM25654 CDC5L kidney,NS,carcinoma,renal cell c.1196G>A p.R399Q 6:44419552-44419552 24
13 COSM30471 ARHGAP20 kidney,NS,carcinoma,renal cell c.1355A>G p.D452G 11:110586276-110586276 24
14 COSM6941466 XIAP kidney,NS,carcinoma,renal cell carcinoma c.563G>C p.G188A 23:123886225-123886225 22
15 COSM14312 VHL kidney,NS,carcinoma,renal cell carcinoma c.353T>C p.L118P 3:10146526-10146526 22
16 COSM14380 VHL kidney,NS,carcinoma,renal cell carcinoma c.548C>A p.S183* 3:10149871-10149871 22
17 COSM18350 VHL kidney,NS,carcinoma,renal cell carcinoma c.256C>T p.P86S 3:10142103-10142103 22
18 COSM17957 VHL kidney,NS,carcinoma,renal cell carcinoma c.292T>G p.Y98D 3:10142139-10142139 22
19 COSM14382 VHL kidney,NS,carcinoma,renal cell carcinoma c.245G>C p.R82P 3:10142092-10142092 22
20 COSM14305 VHL kidney,NS,carcinoma,renal cell carcinoma c.266T>A p.L89H 3:10142113-10142113 22
21 COSM17875 VHL kidney,NS,carcinoma,renal cell carcinoma c.234T>G p.N78K 3:10142081-10142081 22
22 COSM17983 VHL kidney,NS,carcinoma,renal cell carcinoma c.500G>A p.R167Q 3:10149823-10149823 22
23 COSM18097 VHL kidney,NS,carcinoma,renal cell carcinoma c.482G>A p.R161Q 3:10149805-10149805 22
24 COSM14425 VHL kidney,NS,carcinoma,renal cell carcinoma c.341-2A>T p.? 3:10146512-10146512 22
25 COSM17872 VHL kidney,NS,carcinoma,renal cell carcinoma c.217C>T p.Q73* 3:10142064-10142064 22
26 COSM6957851 TSC2 kidney,NS,carcinoma,renal cell carcinoma c.541G>A p.V181M 16:2055461-2055461 22
27 COSM6942356 TSC1 kidney,NS,carcinoma,renal cell carcinoma c.2287C>T p.Q763* 9:132902709-132902709 22
28 COSM6963117 TSC1 kidney,NS,carcinoma,renal cell carcinoma c.1001C>A p.S334* 9:132911481-132911481 22
29 COSM29770 TSC1 kidney,NS,carcinoma,renal cell carcinoma c.508+1G>T p.? 9:132923347-132923347 22
30 COSM10656 TP53 kidney,NS,carcinoma,renal cell carcinoma c.742C>T p.R248W 17:7674221-7674221 22
31 COSM45243 TP53 kidney,NS,carcinoma,renal cell carcinoma c.374C>G p.T125R 17:7675995-7675995 22
32 COSM44310 TP53 kidney,NS,carcinoma,renal cell carcinoma c.738G>A p.M246I 17:7674225-7674225 22
33 COSM6922197 TP53 kidney,NS,carcinoma,renal cell carcinoma c.97-2A>C p.? 17:7676274-7676274 22
34 COSM45135 TP53 kidney,NS,carcinoma,renal cell carcinoma c.673-1G>T p.? 17:7674291-7674291 22
35 COSM6929752 TBX3 kidney,NS,carcinoma,renal cell carcinoma c.510G>T p.W170C 12:114681026-114681026 22
36 COSM6979493 STAG2 kidney,NS,carcinoma,renal cell carcinoma c.2096+1G>A p.? 23:124065947-124065947 22
37 COSM6975582 STAG2 kidney,NS,carcinoma,renal cell carcinoma c.1348A>T p.R450* 23:124057909-124057909 22
38 COSM6023628 STAG2 kidney,NS,carcinoma,renal cell carcinoma c.2860C>T p.R954C 23:124081464-124081464 22
39 COSM6963119 SPOP kidney,NS,carcinoma,renal cell carcinoma c.265T>G p.L89V 17:49619321-49619321 22
40 COSM6964939 SMARCB1 kidney,NS,carcinoma,renal cell carcinoma c.987-2A>T p.? 22:23833570-23833570 22
41 COSM989 SMARCB1 kidney,NS,carcinoma,renal cell carcinoma c.1130G>A p.R377H 22:23834152-23834152 22
42 COSM1266238 SMARCA4 kidney,NS,carcinoma,renal cell carcinoma c.3575G>A p.R1192H 19:11033318-11033318 22
43 COSM6947611 SETD2 kidney,NS,carcinoma,renal cell carcinoma c.863C>A p.S288* 3:47122264-47122264 22
44 COSM6975580 SETD2 kidney,NS,carcinoma,renal cell carcinoma c.4736C>G p.S1579* 3:47062211-47062211 22
45 COSM4118007 SETD2 kidney,NS,carcinoma,renal cell carcinoma c.3266G>A p.R1089Q 3:47106061-47106061 22
46 COSM4794860 SETD2 kidney,NS,carcinoma,renal cell carcinoma c.5922+1G>A p.? 3:47019759-47019759 22
47 COSM6925125 RBM10 kidney,NS,carcinoma,renal cell carcinoma c.179C>A p.S60* 23:47169476-47169476 22
48 COSM6922201 RBM10 kidney,NS,carcinoma,renal cell carcinoma c.299G>C p.G100A 23:47171125-47171125 22
49 COSM6947629 PTCH1 kidney,NS,carcinoma,renal cell carcinoma c.3616C>T p.R1206C 9:95449257-95449257 22
50 COSM6927541 PRKN kidney,NS,carcinoma,renal cell carcinoma c.629T>G p.F210C 6:161973407-161973407 22

Expression for Renal Cell Carcinoma, Xp11-Associated

Search GEO for disease gene expression data for Renal Cell Carcinoma, Xp11-Associated.

Pathways for Renal Cell Carcinoma, Xp11-Associated

Pathways related to Renal Cell Carcinoma, Xp11-Associated according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.07 ASPSCR1 PRCC TFE3
2 10.77 TFE3 TFEB

GO Terms for Renal Cell Carcinoma, Xp11-Associated

Cellular components related to Renal Cell Carcinoma, Xp11-Associated according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.43 ASPSCR1 NONO PRCC SFPQ TFE3 TFEB
2 nuclear speck GO:0016607 9.33 NONO PRCC SFPQ
3 nuclear matrix GO:0016363 9.32 NONO SFPQ
4 RNA polymerase II transcription factor complex GO:0090575 9.26 NONO SFPQ
5 paraspeckles GO:0042382 8.62 NONO SFPQ

Biological processes related to Renal Cell Carcinoma, Xp11-Associated according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 rhythmic process GO:0048511 9.4 NONO SFPQ
2 DNA recombination GO:0006310 9.37 NONO SFPQ
3 mRNA splicing, via spliceosome GO:0000398 9.33 NONO PRCC SFPQ
4 humoral immune response GO:0006959 9.32 TFE3 TFEB
5 regulation of circadian rhythm GO:0042752 9.26 NONO SFPQ
6 activation of innate immune response GO:0002218 8.96 NONO SFPQ
7 immune system process GO:0002376 8.92 NONO SFPQ TFE3 TFEB

Molecular functions related to Renal Cell Carcinoma, Xp11-Associated according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0000981 9.62 NONO SFPQ TFE3 TFEB
2 transcription regulatory region sequence-specific DNA binding GO:0000976 9.26 NONO SFPQ
3 RNA polymerase II distal enhancer sequence-specific DNA binding GO:0000980 9.16 NONO SFPQ
4 core promoter binding GO:0001047 8.96 NONO SFPQ
5 transcription regulatory region DNA binding GO:0044212 8.8 SFPQ TFE3 TFEB

Sources for Renal Cell Carcinoma, Xp11-Associated

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