MCID: HRD020
MIFTS: 26

Hereditary Renal Cell Carcinoma

Categories: Rare diseases, Cancer diseases, Nephrological diseases

Aliases & Classifications for Hereditary Renal Cell Carcinoma

MalaCards integrated aliases for Hereditary Renal Cell Carcinoma:

Name: Hereditary Renal Cell Carcinoma 12 53 15 73

Classifications:



External Ids:

Disease Ontology 12 DOID:4455
UMLS 73 C2608055

Summaries for Hereditary Renal Cell Carcinoma

MalaCards based summary : Hereditary Renal Cell Carcinoma is related to renal cell carcinoma, nonpapillary and birt-hogg-dube syndrome, and has symptoms including flank pain An important gene associated with Hereditary Renal Cell Carcinoma is FHIT (Fragile Histidine Triad), and among its related pathways/superpathways are Glioma and Downstream signaling events of B Cell Receptor (BCR). Affiliated tissues include skin, and related phenotypes are neoplasm and renal/urinary system

Related Diseases for Hereditary Renal Cell Carcinoma

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



Diseases related to Hereditary Renal Cell Carcinoma

Symptoms & Phenotypes for Hereditary Renal Cell Carcinoma

UMLS symptoms related to Hereditary Renal Cell Carcinoma:


flank pain

MGI Mouse Phenotypes related to Hereditary Renal Cell Carcinoma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 9.26 FHIT FLCN MET TSC2
2 renal/urinary system MP:0005367 8.92 FH FLCN MET TSC2

Drugs & Therapeutics for Hereditary Renal Cell Carcinoma

Search Clinical Trials , NIH Clinical Center for Hereditary Renal Cell Carcinoma

Genetic Tests for Hereditary Renal Cell Carcinoma

Anatomical Context for Hereditary Renal Cell Carcinoma

MalaCards organs/tissues related to Hereditary Renal Cell Carcinoma:

41
Skin

Publications for Hereditary Renal Cell Carcinoma

Articles related to Hereditary Renal Cell Carcinoma:

(show all 22)
# Title Authors Year
1
Hereditary renal cell carcinoma syndromes: diagnosis, surveillance and management. ( 29680948 )
2018
2
Hereditary Renal Cell Carcinoma Syndromes: Clinical, Pathologic, and Genetic Features. ( 26559379 )
2015
3
Diagnostic approach to hereditary renal cell carcinoma. ( 25905938 )
2015
4
Hereditary renal cell carcinoma: genetics, clinical features, and surgical considerations. ( 24710684 )
2014
5
Analysis of the t(3;8) of hereditary renal cell carcinoma: a palindrome-mediated translocation. ( 24813807 )
2014
6
Hereditary renal cell carcinoma: the clue can be in the skin. ( 20233231 )
2009
7
Hereditary renal cell carcinoma associated with von Hippel-Lindau disease: a description of a Nova Scotia cohort. ( 19293973 )
2009
8
The growing family of hereditary renal cell carcinoma. ( 15507478 )
2004
9
Molecular study of a new family with hereditary renal cell carcinoma and a translocation t(3;8)(p13;q24.1). ( 12522559 )
2003
10
Use of the spontaneous Tsc2 knockout (Eker) rat model of hereditary renal cell carcinoma for the study of renal carcinogens. ( 12512868 )
2002
11
Parenchymal sparing surgery in patients with hereditary renal cell carcinoma: 10-year experience. ( 11176466 )
2001
12
The hereditary renal cell carcinoma 3;8 translocation fuses FHIT to a patched-related gene, TRC8. ( 9689122 )
1998
13
A 350-kb cosmid contig in 3p14.2 that crosses the t(3;8) hereditary renal cell carcinoma translocation breakpoint and 17 aphidicolin-induced FRA3B breakpoints. ( 8661108 )
1996
14
Mapping of 29 YAC clones and identification of 3 YACs spanning the translocation t(3;8)(p14.2;q24.1) breakpoint at 8q24.1 in hereditary renal cell carcinoma. ( 9040788 )
1996
15
Hereditary renal cell carcinoma in the Eker rat: a unique animal model for the study of cancer susceptibility. ( 8597118 )
1995
16
Parenchymal sparing surgery in patients with hereditary renal cell carcinoma. ( 7853573 )
1995
17
Multicolor FISH mapping of YAC clones in 3p14 and identification of a YAC spanning both FRA3B and the t(3;8) associated with hereditary renal cell carcinoma. ( 7806217 )
1994
18
Hereditary renal cell carcinoma in the Eker rat: a rodent familial cancer syndrome. ( 1433648 )
1992
19
Hereditary renal cell carcinoma in the rat associated with nonrandom loss of chromosomes 5 and 6. ( 1868463 )
1991
20
Localization by in situ hybridization of three 3p probes with respect to the breakpoint in a t(3;8) in hereditary renal cell carcinoma. ( 1984839 )
1991
21
Translocation of c-myc in the hereditary renal cell carcinoma associated with a t(3;8)(p14.2;q24.13) chromosomal translocation. ( 2995998 )
1985
22
Hereditary renal-cell carcinoma associated with a chromosomal translocation. ( 470981 )
1979

Variations for Hereditary Renal Cell Carcinoma

Expression for Hereditary Renal Cell Carcinoma

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

Pathways for Hereditary Renal Cell Carcinoma

GO Terms for Hereditary Renal Cell Carcinoma

Biological processes related to Hereditary Renal Cell Carcinoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of protein kinase B signaling GO:0051898 9.26 FLCN TSC2
2 positive chemotaxis GO:0050918 9.16 MET TSC2
3 negative regulation of TOR signaling GO:0032007 8.96 FLCN TSC2
4 negative regulation of Rho protein signal transduction GO:0035024 8.62 FLCN MET

Sources for Hereditary Renal Cell 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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