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encyclopedia of Rare Disease Annotation for Precision Medicine



   familial prostate cancer
  

Disease ID 1775
Disease familial prostate cancer
Definition
A malignant tumour of the prostate with an early onset. Is either asymptomatic or causes symptoms on micturition, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterised by familial antecedents.
Synonym
familial malignant neoplasm of prostate
familial malignant neoplasm of prostate (disorder)
hereditary prostate cancer
prca1
prostate cancer, familial
prostate cancer, hereditary, 1
Orphanet
OMIM
DOID
UMLS
C2931456
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:3)
C0376358  |  prostate cancer  |  1
C0600139  |  carcinoma of the prostate  |  1
C0007102  |  colon cancer  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:17)
11200  |  CHEK2  |  CTD_human;ORPHANET;UNIPROT
5728  |  PTEN  |  UNIPROT
6928  |  HNF1B  |  ORPHANET;UNIPROT
675  |  BRCA2  |  ORPHANET;UNIPROT
4481  |  MSR1  |  ORPHANET
999  |  CDH1  |  CTD_human
4683  |  NBN  |  ORPHANET
672  |  BRCA1  |  ORPHANET;UNIPROT
60528  |  ELAC2  |  ORPHANET;UNIPROT
3293  |  HSD17B3  |  UNIPROT
3284  |  HSD3B2  |  UNIPROT
4601  |  MXI1  |  UNIPROT
6716  |  SRD5A2  |  ORPHANET;UNIPROT
4477  |  MSMB  |  ORPHANET
10481  |  HOXB13  |  CTD_human;ORPHANET
6041  |  RNASEL  |  CLINVAR;CTD_human;ORPHANET;UNIPROT
2048  |  EPHB2  |  ORPHANET;UNIPROT
Inferring Gene(Waiting for update.)
Text Mined Gene(Waiting for update.)
Locus
Symbol | Locus(Total Locus:12)
CHEK2  |  22q12.1
MSMB  |  10q11.22
ELAC2  |  17p12
RNASEL  |  1q25.3
NBN  |  8q21.3
MSR1  |  8p22
BRCA1  |  17q21.31
BRCA2  |  13q13.1
HNF1B  |  17q12
EPHB2  |  1p36.12
HOXB13  |  17q21.32
SRD5A2  |  2p23.1
Disease ID 1775
Disease familial prostate cancer
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:2)
HP:0003003  |  Colon cancer  |  1
HP:0012125  |  Prostate cancer  |  1
Disease ID 1775
Disease familial prostate cancer
Manually Symptom(Waiting for update.)
Text Mined Symptom(Waiting for update.)
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:15)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs13785259312539229367ARumls:C2931456BeFreeThe AR R726L allele does not account for a significant proportion of early-onset and/or familial prostate cancer in the United States.0.0008143262003ARX67717484GA,C,T
rs1382131972402688710481HOXB13umls:C2931456BeFreeThe rare but recurrent germline G84E mutation in HOXB13 was recently found to be associated with a significantly increased risk of familial prostate cancer (PCa).0.2416286512013HOXB131748728343CT
rs1382131972472206210481HOXB13umls:C2931456BeFreeRecent genetic epidemiologic studies identified a germline mutation in the homeobox transcription factor, HOXB13 G84E, which is associated with markedly increased risk for prostate cancer, particularly early-onset hereditary prostate cancer.0.2416286512014HOXB131748728343CT
rs1382131972223622410481HOXB13umls:C2931456BeFreeThe novel HOXB13 G84E variant is associated with a significantly increased risk of hereditary prostate cancer.0.2416286512012HOXB131748728343CT
rs1382131972271473810481HOXB13umls:C2931456BeFreeConfirmation of the HOXB13 G84E germline mutation in familial prostate cancer.0.2416286512012HOXB131748728343CT
rs1382131972559593610481HOXB13umls:C2931456BeFreeA rare recurrent missense variant in HOXB13 (rs138213197/G84E) was recently reported to be associated with hereditary prostate cancer.0.2416286512016HOXB131748728343CT
rs1382131972284167410481HOXB13umls:C2931456BeFreeA rare but recurrent missense mutation (G84E, rs138213197) in the gene homeobox B13 (HOXB13) was recently reported to be associated with hereditary prostate cancer.0.2416286512012HOXB131748728343CT
rs386596027159812056041RNASELumls:C2931456BeFreeThe RNASEL (encoding ribonuclease L) gene Glu265X mutation has been implicated in familial prostate cancer, and an association between the RNASEL Arg462Gln variant and sporadic and familial prostate cancer, has also been suggested.0.364343072005NANANANANA
rs386596027187670276041RNASELumls:C2931456BeFreeGenotyping of HPC2/ELAC2 variants (S217L, A541T), along with RNASEL variants (R462Q and E541D) was completed in 155 African American sporadic and 88 familial prostate cancer cases, and 296 healthy male controls.0.364343072008NANANANANA
rs386602167187670276041RNASELumls:C2931456BeFreeGenotyping of HPC2/ELAC2 variants (S217L, A541T), along with RNASEL variants (R462Q and E541D) was completed in 155 African American sporadic and 88 familial prostate cancer cases, and 296 healthy male controls.0.364343072008NANANANANA
rs486907187670276041RNASELumls:C2931456BeFreeGenotyping of HPC2/ELAC2 variants (S217L, A541T), along with RNASEL variants (R462Q and E541D) was completed in 155 African American sporadic and 88 familial prostate cancer cases, and 296 healthy male controls.0.364343072008RNASEL1182585422CT
rs486907159812056041RNASELumls:C2931456BeFreeThe RNASEL (encoding ribonuclease L) gene Glu265X mutation has been implicated in familial prostate cancer, and an association between the RNASEL Arg462Gln variant and sporadic and familial prostate cancer, has also been suggested.0.364343072005RNASEL1182585422CT
rs627928187670276041RNASELumls:C2931456BeFreeGenotyping of HPC2/ELAC2 variants (S217L, A541T), along with RNASEL variants (R462Q and E541D) was completed in 155 African American sporadic and 88 familial prostate cancer cases, and 296 healthy male controls.0.364343072008RNASEL1182582202AC
rs74315364NA6041RNASELumls:C2931456CLINVARNA0.36434307NARNASEL1182586014CA
rs74315365NA6041RNASELumls:C2931456CLINVARNA0.36434307NARNASEL1182586804CT
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:0)
(Waiting for update.)
Mapped by homologous gene(Total Items:0)
(Waiting for update.)
Disease ID 1775
Disease familial prostate cancer
Case(Waiting for update.)