MCID: HRD114
MIFTS: 23

Hereditary Site-Specific Ovarian Cancer Syndrome

Categories: Cancer diseases, Rare diseases, Reproductive 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 60

Characteristics:

Orphanet epidemiological data:

60
hereditary site-specific ovarian cancer syndrome
Inheritance: Autosomal dominant; Age of onset: Adult;

Classifications:



External Ids:

ICD10 via Orphanet 35 C56
Orphanet 60 ORPHA213524

Summaries for Hereditary Site-Specific Ovarian Cancer Syndrome

MalaCards based summary : Hereditary Site-Specific Ovarian Cancer Syndrome is related to tuberculous salpingitis and nosophobia. An important gene associated with Hereditary Site-Specific Ovarian Cancer Syndrome is BRCA2 (BRCA2 DNA Repair Associated), and among its related pathways/superpathways are Gastric cancer and Glioma. Affiliated tissues include breast, ovary and bone, 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 38)
# Related Disease Score Top Affiliating Genes
1 tuberculous salpingitis 9.9 BRCA1 BRCA2
2 nosophobia 9.9 BRCA1 BRCA2
3 cancerophobia 9.9 BRCA1 BRCA2
4 breast reconstruction 9.9 BRCA1 BRCA2
5 breast-ovarian cancer, familial 1 9.9 BRCA1 BRCA2
6 fallopian tube adenocarcinoma 9.9 BRCA1 BRCA2
7 synchronous bilateral breast carcinoma 9.9 BRCA1 BRCA2
8 glycogen-rich clear cell breast carcinoma 9.9 BRCA1 BRCA2
9 premature menopause 9.9 BRCA1 BRCA2
10 peritoneum cancer 9.9 BRCA1 BRCA2
11 fallopian tube disease 9.9 BRCA1 BRCA2
12 bilateral breast cancer 9.9 BRCA1 BRCA2
13 primary peritoneal carcinoma 9.9 BRCA1 BRCA2
14 lynch syndrome 9.9 BRCA1 BRCA2
15 lynch syndrome i 9.9 BRCA1 BRCA2
16 mutagen sensitivity 9.9 BRCA1 BRCA2
17 fanconi anemia, complementation group q 9.9 BRCA1 BRCA2
18 pre-malignant neoplasm 9.9 BRCA1 BRCA2
19 fallopian tube carcinoma 9.9 BRCA1 BRCA2
20 dysgerminoma of ovary 9.9 BRCA1 BRCA2
21 breast carcinoma in situ 9.9 BRCA1 BRCA2
22 ovarian cancer 1 9.9 BRCA1 BRCA2
23 malignant ovarian surface epithelial-stromal neoplasm 9.9 BRCA1 BRCA2
24 ovary epithelial cancer 9.8 BRCA1 BRCA2
25 female breast cancer 9.8 BRCA1 BRCA2
26 sporadic breast cancer 9.8 BRCA1 BRCA2
27 ductal carcinoma in situ 9.8 BRCA1 BRCA2
28 hereditary breast ovarian cancer syndrome 9.8 BRCA1 BRCA2
29 female reproductive system disease 9.8 BRCA1 BRCA2
30 reproductive system disease 9.8 BRCA1 BRCA2
31 gonadal disease 9.8 BRCA1 BRCA2
32 li-fraumeni syndrome 9.8 BRCA1 BRCA2
33 endocrine gland cancer 9.8 BRCA1 BRCA2
34 pancreas adenocarcinoma 9.7 BRCA1 BRCA2
35 ovarian disease 9.7 BRCA1 BRCA2
36 breast disease 9.7 BRCA1 BRCA2
37 adamantinoma of long bones 9.6 BRCA1 BRCA2
38 fanconi anemia, complementation group a 9.5 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:

27
# 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:

42
Breast, Ovary, Bone, Pancreas

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:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.14 BRCA1 BRCA2
2
Show member pathways
12.09 BRCA1 BRCA2
3
Show member pathways
12.06 BRCA1 BRCA2
4 11.9 BRCA1 BRCA2
5
Show member pathways
11.87 BRCA1 BRCA2
6
Show member pathways
11.67 BRCA1 BRCA2
7 11.44 BRCA1 BRCA2
8
Show member pathways
11.34 BRCA1 BRCA2
9 10.93 BRCA1 BRCA2
10 10.92 BRCA1 BRCA2
11
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:

# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.43 BRCA1 BRCA2
2 DNA repair GO:0006281 9.4 BRCA1 BRCA2
3 DNA recombination GO:0006310 9.37 BRCA1 BRCA2
4 double-strand break repair via homologous recombination GO:0000724 9.32 BRCA1 BRCA2
5 double-strand break repair GO:0006302 9.26 BRCA1 BRCA2
6 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.16 BRCA1 BRCA2
7 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 8.96 BRCA1 BRCA2
8 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 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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