MCID: HRD020
MIFTS: 27

Hereditary Renal Cell Carcinoma

Categories: Cancer diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Hereditary Renal Cell Carcinoma

MalaCards integrated aliases for Hereditary Renal Cell Carcinoma:

Name: Hereditary Renal Cell Carcinoma 12 54 6 15 74

Classifications:



External Ids:

Disease Ontology 12 DOID:4455
UMLS 74 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 Diadenosine Triphosphatase), and among its related pathways/superpathways are Glioma and Downstream signaling events of B Cell Receptor (BCR). Affiliated tissues include kidney, skin and liver, 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:

47
# 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:

42
Kidney, Skin, Liver, Heart, Tongue, Thyroid

Publications for Hereditary Renal Cell Carcinoma

Articles related to Hereditary Renal Cell Carcinoma:

(show all 23)
# Title Authors Year
1
Distinctive clinicopathological features of Von Hippel-Lindau-associated hereditary renal cell carcinoma: A single-institution study. ( 30944649 )
2019
2
Hereditary renal cell carcinoma syndromes: diagnosis, surveillance and management. ( 29680948 )
2018
3
Diagnostic approach to hereditary renal cell carcinoma. ( 25905938 )
2015
4
Hereditary Renal Cell Carcinoma Syndromes: Clinical, Pathologic, and Genetic Features. ( 26559379 )
2015
5
Hereditary renal cell carcinoma: genetics, clinical features, and surgical considerations. ( 24710684 )
2014
6
Analysis of the t(3;8) of hereditary renal cell carcinoma: a palindrome-mediated translocation. ( 24813807 )
2014
7
Hereditary renal cell carcinoma: the clue can be in the skin. ( 20233231 )
2009
8
Hereditary renal cell carcinoma associated with von Hippel-Lindau disease: a description of a Nova Scotia cohort. ( 19293973 )
2009
9
The growing family of hereditary renal cell carcinoma. ( 15507478 )
2004
10
Molecular study of a new family with hereditary renal cell carcinoma and a translocation t(3;8)(p13;q24.1). ( 12522559 )
2003
11
Use of the spontaneous Tsc2 knockout (Eker) rat model of hereditary renal cell carcinoma for the study of renal carcinogens. ( 12512868 )
2002
12
Parenchymal sparing surgery in patients with hereditary renal cell carcinoma: 10-year experience. ( 11176466 )
2001
13
The hereditary renal cell carcinoma 3;8 translocation fuses FHIT to a patched-related gene, TRC8. ( 9689122 )
1998
14
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
15
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
16
Parenchymal sparing surgery in patients with hereditary renal cell carcinoma. ( 7853573 )
1995
17
Hereditary renal cell carcinoma in the Eker rat: a unique animal model for the study of cancer susceptibility. ( 8597118 )
1995
18
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
19
Hereditary renal cell carcinoma in the Eker rat: a rodent familial cancer syndrome. ( 1433648 )
1992
20
Hereditary renal cell carcinoma in the rat associated with nonrandom loss of chromosomes 5 and 6. ( 1868463 )
1991
21
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
22
Translocation of c-myc in the hereditary renal cell carcinoma associated with a t(3;8)(p14.2;q24.13) chromosomal translocation. ( 2995998 )
1985
23
Hereditary renal-cell carcinoma associated with a chromosomal translocation. ( 470981 )
1979

Variations for Hereditary Renal Cell Carcinoma

ClinVar genetic disease variations for Hereditary Renal Cell Carcinoma:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SDHA NM_004168.3(SDHA): c.133G> A (p.Ala45Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs140736646 GRCh38 Chromosome 5, 223551: 223551
2 SDHA NM_004168.3(SDHA): c.133G> A (p.Ala45Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs140736646 GRCh37 Chromosome 5, 223666: 223666
3 EGF NM_001963.5(EGF): c.47G> C (p.Ser16Thr) single nucleotide variant Uncertain significance rs200394315 GRCh38 Chromosome 4, 109913382: 109913382
4 EGF NM_001963.5(EGF): c.47G> C (p.Ser16Thr) single nucleotide variant Uncertain significance rs200394315 GRCh37 Chromosome 4, 110834538: 110834538
5 TRAP1 NM_016292.2(TRAP1): c.1604C> G (p.Thr535Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 3713529: 3713529
6 TRAP1 NM_016292.2(TRAP1): c.1604C> G (p.Thr535Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 3663528: 3663528
7 PARP1 NM_001618.3(PARP1): c.370A> G (p.Thr124Ala) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 226579932: 226579932
8 PARP1 NM_001618.3(PARP1): c.370A> G (p.Thr124Ala) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 226392231: 226392231

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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