MCID: HRD020
MIFTS: 34

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 52 6 15 71

Classifications:



External Ids:

Disease Ontology 12 DOID:4455
UMLS 71 C2608055

Summaries for Hereditary Renal Cell Carcinoma

MalaCards based summary : Hereditary Renal Cell Carcinoma is related to hereditary leiomyomatosis and renal cell cancer and leiomyomatosis, and has symptoms including flank pain An important gene associated with Hereditary Renal Cell Carcinoma is RNF139 (Ring Finger Protein 139), and among its related pathways/superpathways are Pathways in cancer and Glioma. Affiliated tissues include kidney, skin and testes, and related phenotypes are cellular and homeostasis/metabolism

Related Diseases for Hereditary Renal Cell Carcinoma

Diseases in the Hereditary Renal Cell Carcinoma family:

Renal Cell Carcinoma 4

Diseases related to Hereditary Renal Cell Carcinoma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 72)
# Related Disease Score Top Affiliating Genes
1 hereditary leiomyomatosis and renal cell cancer 30.1 SDHB FH
2 leiomyomatosis 30.0 SDHB FLCN FH
3 familial renal oncocytoma 29.6 FNIP2 FNIP1 FLCN
4 cystic kidney disease 29.3 TSC2 FLCN FH EGF
5 oncocytoma 29.2 SDHB FNIP2 FLCN FH
6 von hippel-lindau syndrome 29.0 TSC2 SDHB MET CUL2
7 pheochromocytoma 28.8 SDHB SDHA FH EGF CUL2
8 birt-hogg-dube syndrome 28.3 TSC2 FNIP2 FNIP1 FLCN FH
9 renal cell carcinoma, papillary, 1 28.3 SDHB MET HGF FNIP2 FNIP1 FLCN
10 clear cell renal cell carcinoma 28.2 SDHB RNF139 MET FNIP1 FLCN FHIT
11 kidney cancer 27.5 TSC2 SDHB RNF139 MET FLCN FHIT
12 familial renal papillary carcinoma 27.2 SDHB MET HGF FNIP2 FNIP1 FLCN
13 renal cell carcinoma, nonpapillary 26.9 TSC2 SLC49A4 SDHB RNF139 MET HGF
14 chronic erosive gastritis 10.3 MET HGF
15 angiolipoma 10.2 FLCN FH
16 neural crest tumor 10.2 SDHB SDHA
17 cardiomyopathy, dilated, 1gg 10.2 SDHA FH
18 gastric leiomyosarcoma 10.2 SDHB SDHA
19 pheochromocytoma-paraganglioma 10.2 SDHB SDHA
20 doxorubicin induced cardiomyopathy 10.2 MET HGF
21 pediatric hepatocellular carcinoma 10.2 MET HGF
22 cerebellar angioblastoma 10.2 SDHB SDHA
23 extra-adrenal pheochromocytoma 10.2 SDHB SDHA
24 deafness, autosomal recessive 97 10.2 MET HGF
25 papillary thyroid microcarcinoma 10.1 MET HGF
26 carney triad 10.1 SDHB SDHA
27 large cell medulloblastoma 10.1 MET HGF
28 esophagus leiomyoma 10.1 SDHB SDHA
29 mucositis 10.1 MET HGF EGF
30 intravenous leiomyomatosis 10.1
31 chromophil renal cell carcinoma 10.1
32 spastic paraplegia 38, autosomal dominant 10.0 SDHB SDHA
33 persistent generalized lymphadenopathy 10.0 SDHB SDHA FH
34 paraganglioma and gastric stromal sarcoma 10.0 SDHB SDHA FH
35 paraganglioma 10.0 SDHB SDHA FH
36 hereditary paraganglioma-pheochromocytoma syndromes 10.0 SDHB SDHA FH
37 mitochondrial complex ii deficiency 10.0 SDHB SDHA FH
38 endocrine organ benign neoplasm 10.0 SDHB SDHA FH
39 adrenal medulla cancer 10.0 SDHB SDHA
40 pneumothorax, primary spontaneous 10.0 FNIP1 FLCN
41 tuberous sclerosis 10.0
42 breast disease 9.9 PARP1 HGF FHIT EGF
43 chondroma 9.9 SDHB SDHA
44 pleural disease 9.9 FNIP2 FNIP1 FLCN
45 autonomic nervous system benign neoplasm 9.9 SDHB SDHA
46 tuberous sclerosis 1 9.8
47 tuberous sclerosis 2 9.8
48 angiosarcoma 9.8
49 small cell carcinoma 9.8
50 adrenal gland pheochromocytoma 9.8

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.06 DNASE1 FH FLCN FNIP1 FNIP2 HGF
2 homeostasis/metabolism MP:0005376 10.03 DNASE1 FH FHIT FLCN FNIP1 FNIP2
3 mortality/aging MP:0010768 9.97 CUL2 DNASE1 FH FHIT FLCN FNIP1
4 neoplasm MP:0002006 9.56 FHIT FLCN FNIP1 FNIP2 MET SDHB
5 renal/urinary system MP:0005367 9.28 DNASE1 FH FLCN FNIP1 FNIP2 MET

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:

40
Kidney, Skin, Testes

Publications for Hereditary Renal Cell Carcinoma

Articles related to Hereditary Renal Cell Carcinoma:

(show top 50) (show all 67)
# Title Authors PMID Year
1
Birt-Hogg-Dubé syndrome-associated renal cell carcinoma: Histopathological features and diagnostic conundrum. 61
31777168 2020
2
Application of Hereditary Renal Cell Carcinoma Risk Criteria to a Large Prospective Database. 61
31378448 2020
3
Clinical and morphologic review of 60 hereditary renal tumors from 30 hereditary renal cell carcinoma syndrome patients: lessons from a contemporary single institution series. 61
31332543 2019
4
Distinctive clinicopathological features of Von Hippel-Lindau-associated hereditary renal cell carcinoma: A single-institution study. 61
30944649 2019
5
Hereditary renal cell carcinoma syndromes: diagnosis, surveillance and management. 61
29680948 2018
6
Recognizing Hereditary Renal Cancers Through the Microscope: A Pathology Update. 61
30447838 2018
7
Prevalence of Germline Mutations in Cancer Susceptibility Genes in Patients With Advanced Renal Cell Carcinoma. 61
29978187 2018
8
Management of renal cell carcinoma in young patients and patients with hereditary syndromes. 61
27387961 2016
9
Structured assessment and followup for patients with hereditary kidney tumour syndromes. 61
28255411 2016
10
[Hereditary renal tumors: More common than expected?]. 61
26979427 2016
11
Hereditary Renal Cell Carcinoma Syndromes: Clinical, Pathologic, and Genetic Features. 61
26559379 2015
12
Partial and Radical Nephrectomy for Unilateral Synchronous Multifocal Renal Cortical Tumors. 61
25872696 2015
13
Diagnostic approach to hereditary renal cell carcinoma. 61
25905938 2015
14
Knowledge of genetic testing for hereditary kidney cancer in Canada is lacking: The results of the Canadian national hereditary kidney cancer needs assessment survey. 61
25485012 2014
15
Hereditary renal cell carcinoma: genetics, clinical features, and surgical considerations. 61
24710684 2014
16
Analysis of the t(3;8) of hereditary renal cell carcinoma: a palindrome-mediated translocation. 61
24813807 2014
17
Cystic cholangioma in the thoracic cavity of a rat. 61
22481863 2012
18
Genetic syndromes associated with renal cell carcinoma: a review. 61
22286808 2011
19
Tumor enucleation: a safe treatment alternative for renal cell carcinoma. 61
21707286 2011
20
Oncological outcomes of partial nephrectomy for multifocal renal cell carcinoma greater than 4 cm. 61
20478582 2010
21
Hereditary renal cell carcinoma: the clue can be in the skin. 61
20233231 2009
22
Hereditary renal cell carcinoma associated with von Hippel-Lindau disease: a description of a Nova Scotia cohort. 61
19293973 2009
23
[Clinical analysis in diagnosis and treatment of 11 patients with hereditary renal cell carcinoma]. 61
17074206 2006
24
Natural history of the Nihon (Bhd gene mutant) rat, a novel model for human Birt-Hogg-Dubé syndrome. 61
16447066 2006
25
Growth suppression induced by the TRC8 hereditary kidney cancer gene is dependent upon JAB1/CSN5. 61
15735686 2005
26
The growing family of hereditary renal cell carcinoma. 61
15507478 2004
27
Parenchymal sparing surgery for central renal tumors in patients with hereditary renal cancers. 61
15201735 2004
28
The transcriptional profile of the kidney in Tsc2 heterozygous mutant Long Evans (Eker) rats compared to wild-type. 61
15120972 2004
29
[Renal transplantation surgery is closely linked with treatment for bilateral synchronous renal cell carcinomas or renal tumors in solitary kidney]. 61
15170982 2004
30
[Hereditary renal cell carcinoma: results and place of conventional conservative surgery]. 61
15000302 2003
31
Molecular study of a new family with hereditary renal cell carcinoma and a translocation t(3;8)(p13;q24.1). 61
12522559 2003
32
Novel somatic mutations of the MET oncogene in human carcinoma metastases activating cell motility and invasion. 61
12460923 2002
33
Use of the spontaneous Tsc2 knockout (Eker) rat model of hereditary renal cell carcinoma for the study of renal carcinogens. 61
12512868 2002
34
Percutaneous tumor ablation with radiofrequency. 61
11900230 2002
35
A novel renal carcinoma predisposing gene of the Nihon rat maps on chromosome 10. 61
11714437 2001
36
Parenchymal sparing surgery in patients with hereditary renal cell carcinoma: 10-year experience. 61
11176466 2001
37
Analyzing the FHIT Gene by RT-PCR, Western Blotting, and Immunohistochemistry. 61
21318789 2001
38
A novel "Nihon" rat model of a Mendelian dominantly inherited renal cell carcinoma. 61
11092972 2000
39
Somatic mutations of the MET oncogene are selected during metastatic spread of human HNSC carcinomas. 61
10734314 2000
40
The hereditary renal cell carcinoma 3;8 translocation fuses FHIT to a patched-related gene, TRC8. 61
9689122 1998
41
Altered expression of transforming growth factor-alpha: an early event in renal cell carcinoma development. 61
9254888 1997
42
Identification of novel 'expressed sequence tags' within the FHIT gene locus in human chromosome region 3p14.2. 61
9225975 1997
43
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. 61
8661108 1996
44
Construction of a consistent YAC contig for human chromosome region 3p14.1. 61
8963894 1996
45
Potential gastrointestinal tumor suppressor locus at the 3p14.2 FRA3B site identified by homozygous deletions in tumor cell lines. 61
8640789 1996
46
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. 61
9040788 1996
47
Hereditary renal cell carcinoma in the Eker rat: a unique animal model for the study of cancer susceptibility. 61
8597118 1995
48
Preneoplastic and neoplastic lesions of rat hereditary renal cell tumors express markers of proximal and distal nephron. 61
7483212 1995
49
Precise localization of aphidicolin-induced breakpoints on the short arm of human chromosome 3. 61
7558007 1995
50
Characterization and chromosomal assignment of yeast artificial chromosomes containing human 3p13-p21-specific sequence tagged sites. 61
7773951 1995

Variations for Hereditary Renal Cell Carcinoma

ClinVar genetic disease variations for Hereditary Renal Cell Carcinoma:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SDHA NM_004168.4(SDHA):c.133G>A (p.Ala45Thr)SNV Conflicting interpretations of pathogenicity 224947 rs140736646 5:223666-223666 5:223551-223551
2 EGF NM_001963.6(EGF):c.47G>C (p.Ser16Thr)SNV Uncertain significance 347225 rs200394315 4:110834538-110834538 4:109913382-109913382
3 TRAP1 NM_016292.3(TRAP1):c.1604C>G (p.Thr535Ser)SNV Uncertain significance 496815 rs77440336 16:3713529-3713529 16:3663528-3663528
4 PARP1 NM_001618.4(PARP1):c.370A>G (p.Thr124Ala)SNV Uncertain significance 496816 rs139924814 1:226579932-226579932 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

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

(show all 13)
# Super pathways Score Top Affiliating Genes
1 12.53 MET HGF FH EGF CUL2
2
Show member pathways
12.36 TSC2 MET HGF FHIT EGF
3 11.82 MET HGF EGF
4
Show member pathways
11.82 TSC2 MET FNIP2 FNIP1 FLCN
5 11.81 TSC2 MET HGF
6
Show member pathways
11.79 SDHB SDHA FH
7
Show member pathways
11.66 MET HGF FLCN FH EGF CUL2
8
Show member pathways
11.65 SDHB SDHA FH
9
Show member pathways
11.57 MET HGF EGF
10
Show member pathways
11.12 MET HGF EGF
11 11.03 MET HGF EGF
12 10.86 MET HGF EGF
13 10.71 MET HGF

GO Terms for Hereditary Renal Cell Carcinoma

Cellular components related to Hereditary Renal Cell Carcinoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lysosomal membrane GO:0005765 9.02 SLC49A4 FNIP2 FNIP1 FLCN EGF
2 mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) GO:0005749 8.96 SDHB SDHA

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 regulation of protein phosphorylation GO:0001932 9.65 FNIP2 FNIP1 FLCN
2 positive chemotaxis GO:0050918 9.61 TSC2 MET HGF
3 negative regulation of Rho protein signal transduction GO:0035024 9.56 MET FLCN
4 respiratory electron transport chain GO:0022904 9.55 SDHB SDHA
5 positive regulation of ubiquitin-dependent protein catabolic process GO:2000060 9.54 RNF139 EGF
6 tricarboxylic acid cycle GO:0006099 9.54 SDHB SDHA FH
7 negative regulation of TORC1 signaling GO:1904262 9.52 FNIP2 FNIP1
8 TOR signaling GO:0031929 9.51 FNIP1 FLCN
9 hepatocyte growth factor receptor signaling pathway GO:0048012 9.49 MET HGF
10 succinate metabolic process GO:0006105 9.46 SDHB SDHA
11 negative regulation of hydrogen peroxide-mediated programmed cell death GO:1901299 9.4 MET HGF
12 negative regulation of TOR signaling GO:0032007 9.33 TSC2 FNIP1 FLCN
13 negative regulation of ATP biosynthetic process GO:2001170 9.32 PARP1 FLCN
14 regulation of pro-B cell differentiation GO:2000973 9.26 FNIP1 FLCN
15 negative regulation of cellular respiration GO:1901856 8.96 TRAP1 FLCN
16 negative regulation of mitochondrion organization GO:0010823 8.8 FNIP2 FNIP1 FLCN

Molecular functions related to Hereditary Renal Cell Carcinoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.06 TSC2 TRAP1 SDHB SDHA RNF139 PARP1
2 ATPase inhibitor activity GO:0042030 8.96 FNIP2 FNIP1
3 succinate dehydrogenase (ubiquinone) activity GO:0008177 8.62 SDHB SDHA

Sources for Hereditary Renal Cell Carcinoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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