MCID: HRD114
MIFTS: 22

Hereditary Site-Specific Ovarian Cancer Syndrome

Categories: Reproductive diseases, Rare diseases, Cancer diseases

Aliases & Classifications for Hereditary Site-Specific Ovarian Cancer Syndrome

MalaCards integrated aliases for Hereditary Site-Specific Ovarian Cancer Syndrome:

Name: Hereditary Site-Specific Ovarian Cancer Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
hereditary site-specific ovarian cancer syndrome
Inheritance: Autosomal dominant; Age of onset: Adult;

Classifications:



External Ids:

Orphanet 59 ORPHA213524
ICD10 via Orphanet 34 C56

Summaries for Hereditary Site-Specific Ovarian Cancer Syndrome

MalaCards based summary : Hereditary Site-Specific Ovarian Cancer Syndrome is related to breast reconstruction and tuberculous salpingitis. An important gene associated with Hereditary Site-Specific Ovarian Cancer Syndrome is BRCA2 (BRCA2, DNA Repair Associated), and among its related pathways/superpathways are Glioma and Gastric cancer. Affiliated tissues include ovary, and related phenotypes are Decreased homologous recombination repair frequency and Decreased homologous recombination repair frequency

Related Diseases for Hereditary Site-Specific Ovarian Cancer Syndrome

Diseases related to Hereditary Site-Specific Ovarian Cancer Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 35)
# Related Disease Score Top Affiliating Genes
1 breast reconstruction 9.8 BRCA1 BRCA2
2 tuberculous salpingitis 9.8 BRCA1 BRCA2
3 nosophobia 9.8 BRCA1 BRCA2
4 cancerophobia 9.8 BRCA1 BRCA2
5 uterine corpus serous adenocarcinoma 9.8 BRCA1 BRCA2
6 breast-ovarian cancer, familial 1 9.8 BRCA1 BRCA2
7 synchronous bilateral breast carcinoma 9.8 BRCA1 BRCA2
8 fallopian tube adenocarcinoma 9.8 BRCA1 BRCA2
9 peritoneum cancer 9.8 BRCA1 BRCA2
10 glycogen-rich clear cell breast carcinoma 9.8 BRCA1 BRCA2
11 premature menopause 9.8 BRCA1 BRCA2
12 clear cell adenofibroma 9.8 BRCA1 BRCA2
13 cystadenofibroma 9.8 BRCA1 BRCA2
14 lynch syndrome i 9.8 BRCA1 BRCA2
15 dysgerminoma of ovary 9.8 BRCA1 BRCA2
16 bilateral breast cancer 9.8 BRCA1 BRCA2
17 primary peritoneal carcinoma 9.7 BRCA1 BRCA2
18 mutagen sensitivity 9.7 BRCA1 BRCA2
19 pre-malignant neoplasm 9.7 BRCA1 BRCA2
20 fallopian tube carcinoma 9.7 BRCA1 BRCA2
21 ovarian cancer 1 9.7 BRCA1 BRCA2
22 malignant ovarian surface epithelial-stromal neoplasm 9.7 BRCA1 BRCA2
23 ovary epithelial cancer 9.7 BRCA1 BRCA2
24 breast carcinoma in situ 9.7 BRCA1 BRCA2
25 female breast cancer 9.6 BRCA1 BRCA2
26 sporadic breast cancer 9.6 BRCA1 BRCA2
27 ductal carcinoma in situ 9.6 BRCA1 BRCA2
28 hereditary breast ovarian cancer syndrome 9.6 BRCA1 BRCA2
29 female reproductive organ cancer 9.6 BRCA1 BRCA2
30 cowden disease 9.5 BRCA1 BRCA2
31 li-fraumeni syndrome 9.5 BRCA1 BRCA2
32 lynch syndrome 9.4 BRCA1 BRCA2
33 adamantinoma of long bones 9.3 BRCA1 BRCA2
34 fanconi anemia, complementation group a 9.2 BRCA1 BRCA2
35 endometrial cancer 9.0 BRCA1 BRCA2

Graphical network of the top 20 diseases related to Hereditary Site-Specific Ovarian Cancer Syndrome:



Diseases related to Hereditary Site-Specific Ovarian Cancer Syndrome

Symptoms & Phenotypes for Hereditary Site-Specific Ovarian Cancer Syndrome

GenomeRNAi Phenotypes related to Hereditary Site-Specific Ovarian Cancer Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased homologous recombination repair frequency GR00151-A-1 9.92 BRCA1
2 Decreased homologous recombination repair frequency GR00151-A-2 9.92 BRCA1
3 Decreased homologous recombination repair frequency GR00236-A-1 9.92 BRCA1 BRCA2
4 Decreased homologous recombination repair frequency GR00236-A-2 9.92 BRCA1 BRCA2
5 Decreased homologous recombination repair frequency GR00236-A-3 9.92 BRCA1 BRCA2
6 Decreased viability after ionizing radiation GR00232-A-2 9.26 BRCA1 BRCA2
7 Decreased viability with cisplatin GR00101-A-4 9.16 BRCA1 BRCA2
8 Synthetic lethal with cisplatin GR00101-A-1 8.96 BRCA1 BRCA2
9 Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation GR00016-A 8.62 BRCA1 BRCA2

Drugs & Therapeutics for Hereditary Site-Specific Ovarian Cancer Syndrome

Search Clinical Trials , NIH Clinical Center for Hereditary Site-Specific Ovarian Cancer Syndrome

Genetic Tests for Hereditary Site-Specific Ovarian Cancer Syndrome

Anatomical Context for Hereditary Site-Specific Ovarian Cancer Syndrome

MalaCards organs/tissues related to Hereditary Site-Specific Ovarian Cancer Syndrome:

41
Ovary

Publications for Hereditary Site-Specific Ovarian Cancer Syndrome

Variations for Hereditary Site-Specific Ovarian Cancer Syndrome

Expression for Hereditary Site-Specific Ovarian Cancer Syndrome

Search GEO for disease gene expression data for Hereditary Site-Specific Ovarian Cancer Syndrome.

Pathways for Hereditary Site-Specific Ovarian Cancer Syndrome

Pathways related to Hereditary Site-Specific Ovarian Cancer Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.15 BRCA1 BRCA2
2
Show member pathways
12.12 BRCA1 BRCA2
3
Show member pathways
12.04 BRCA1 BRCA2
4 11.88 BRCA1 BRCA2
5
Show member pathways
11.83 BRCA1 BRCA2
6
Show member pathways
11.62 BRCA1 BRCA2
7 11.44 BRCA1 BRCA2
8
Show member pathways
11.34 BRCA1 BRCA2
9 10.93 BRCA1 BRCA2
10
Show member pathways
10.54 BRCA1 BRCA2

GO Terms for Hereditary Site-Specific Ovarian Cancer Syndrome

Cellular components related to Hereditary Site-Specific Ovarian Cancer Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lateral element GO:0000800 8.62 BRCA1 BRCA2

Biological processes related to Hereditary Site-Specific Ovarian Cancer Syndrome according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.49 BRCA1 BRCA2
2 DNA repair GO:0006281 9.48 BRCA1 BRCA2
3 regulation of cell proliferation GO:0042127 9.46 BRCA1 BRCA2
4 DNA recombination GO:0006310 9.43 BRCA1 BRCA2
5 double-strand break repair via homologous recombination GO:0000724 9.4 BRCA1 BRCA2
6 double-strand break repair GO:0006302 9.37 BRCA1 BRCA2
7 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.32 BRCA1 BRCA2
8 DNA synthesis involved in DNA repair GO:0000731 9.26 BRCA1 BRCA2
9 strand displacement GO:0000732 9.16 BRCA1 BRCA2
10 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 8.96 BRCA1 BRCA2
11 chordate embryonic development GO:0043009 8.62 BRCA1 BRCA2

Sources for Hereditary Site-Specific Ovarian Cancer Syndrome

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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