MCID: SXC001
MIFTS: 41

Sex Cord-Gonadal Stromal Tumor malady

Categories: Cancer diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Sex Cord-Gonadal Stromal Tumor

Aliases & Descriptions for Sex Cord-Gonadal Stromal Tumor:

Name: Sex Cord-Gonadal Stromal Tumor 12 14
Sex Cord-Stromal Tumor 12 52 69
Malignant Testicular Sex Cord-Stromal Tumor 12 69
Sex Cord-Stromal Tumor of Testis 12 56
Sex Cord-Stromal Neoplasm 12 14
Sex Cord-Stromal Tumor, No Icd-O Subtype 12
Testicular Sex Cord-Stromal Tumor 56
Specialized Gonadal Neoplasm Nos 12
Sex Cord Stromal Tumor of Testis 69
Sex Cord-Gonadal Stromal Tumors 42
Specialized Gonadal Neoplasm 12
Specialized Gonadal Tumor 12
Sex Cord Stromal Tumour 12

Characteristics:

Orphanet epidemiological data:

56
sex cord-stromal tumor of testis
Prevalence: <1/1000000 (Europe),1-9/1000000 (Europe);

Classifications:

Orphanet: 56  
Rare urogenital diseases


External Ids:

Disease Ontology 12 DOID:192 DOID:4757
MeSH 42 D018312
Orphanet 56 ORPHA363489
ICD10 via Orphanet 34 C62.1

Summaries for Sex Cord-Gonadal Stromal Tumor

Disease Ontology : 12 A reproductive organ cancer that is located in the sex cord-derived tissues of the ovary and testis.

MalaCards based summary : Sex Cord-Gonadal Stromal Tumor, also known as sex cord-stromal tumor, is related to mixed germ cell-sex cord neoplasm and ovarian sex cord tumor with annular tubules. An important gene associated with Sex Cord-Gonadal Stromal Tumor is NR5A1 (Nuclear Receptor Subfamily 5 Group A Member 1), and among its related pathways/superpathways are Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Ovarian Infertility Genes. The drugs Carboplatin and Paclitaxel have been mentioned in the context of this disorder. Affiliated tissues include testis, ovary and the sex cord-derived tissues of the ovary, and related phenotypes are behavior/neurological and homeostasis/metabolism

Related Diseases for Sex Cord-Gonadal Stromal Tumor

Diseases related to Sex Cord-Gonadal Stromal Tumor via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 109)
id Related Disease Score Top Affiliating Genes
1 mixed germ cell-sex cord neoplasm 11.4
2 ovarian sex cord tumor with annular tubules 11.2
3 ovarian fibroma 11.1
4 granulosa cell tumor of the ovary 11.1
5 exotropia 10.3 PGR WT1
6 breast ductal carcinoma 10.3 PGR WT1
7 conjunctival disease 10.3 DICER1 WT1
8 mhc class ii deficiency 10.3 AFP PGR
9 combined oxidative phosphorylation deficiency 5 10.3 FOXL2 NR5A1
10 central nervous system endodermal sinus tumor 10.3 AFP WT1
11 flying phobia 10.3 AFP WT1
12 dementia 10.3 AFP FOXL2
13 infiltrating angiolipoma 10.3 PGR WT1
14 trophoblastic neoplasm 10.2 AFP CALB2
15 congenital torticollis 10.2 AFP WT1
16 renal pelvis adenocarcinoma 10.2 SYP WT1
17 lymphangiosarcoma 10.2 CALB2 INHA
18 46 xx gonadal dysgenesis 10.2 FOXL2 NR5A1 WT1
19 corneal intraepithelial neoplasm 10.2 SYP WT1
20 wheat allergy 10.2 PGR SYP
21 liver angiosarcoma 10.2 DICER1 PGR WT1
22 sphenoid sinus squamous cell carcinoma 10.2 AFP CALB2
23 pancreatic colloid cystadenoma 10.2 PGR SYP
24 infiltrating renal pelvis transitional cell carcinoma 10.2 AFP SYP
25 petrous apex meningioma 10.2 AFP CALB2 WT1
26 gliofibroma 10.2 SYP WT1
27 persian gulf syndrome 10.2 AFP CALB2 WT1
28 handigodu disease 10.2 CALB2 DICER1 FOXL2
29 diabetes mellitus, insulin-resistant, with acanthosis nigricans 10.2 AFP NR5A1 WT1
30 mucositis 10.2 AFP NR5A1
31 vulvar benign neoplasm 10.2 DICER1 SYP
32 her2-receptor negative breast cancer 10.2 CYP19A1 PGR
33 paraphimosis 10.2 PGR SYP
34 bone deterioration disease 10.2 DICER1 SYP
35 biemond syndrome 10.2 CYP19A1 PGR
36 inhibited male orgasm 10.1 AFP ANO6
37 osteogenesis imperfecta 10.1 CYP19A1 PGR
38 panophthalmitis 10.1 CYP19A1 PGR
39 breast mucoepidermoid carcinoma 10.1 CALB2 SYP WT1
40 myotonic disease 10.1 CALB2 SYP WT1
41 adult botryoid rhabdomyosarcoma 10.1 AFP SYP
42 deep leiomyoma 10.1 AFP FOXL2
43 cystadenofibroma 10.1 CALB2 NCAM1
44 acute thyroiditis 10.1 CYP19A1 PGR
45 connective tissue disease 10.1 CALB2 NCAM1
46 exudative glomerulonephritis 10.1 DICER1 SYP
47 mucinous adenofibroma 10.1 NCAM1 WT1
48 sertoli cell tumor 10.1
49 cavernous hemangioma of colon 10.1 NCAM1 PGR
50 sebaceous adenoma 10.1 PGR SYP

Graphical network of the top 20 diseases related to Sex Cord-Gonadal Stromal Tumor:



Diseases related to Sex Cord-Gonadal Stromal Tumor

Symptoms & Phenotypes for Sex Cord-Gonadal Stromal Tumor

MGI Mouse Phenotypes related to Sex Cord-Gonadal Stromal Tumor:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.11 PGR SYP AFP CALB2 CYP19A1 DICER1
2 homeostasis/metabolism MP:0005376 10.1 AFP ANO6 CYP19A1 DICER1 FOXL2 GNAS
3 endocrine/exocrine gland MP:0005379 10.09 DICER1 FOXL2 GNAS INHA NR5A1 PGR
4 mortality/aging MP:0010768 10.02 GNAS INHA NCAM1 NR5A1 PGR WT1
5 liver/biliary system MP:0005370 9.85 AFP CYP19A1 DICER1 GNAS INHA WT1
6 neoplasm MP:0002006 9.73 AFP DICER1 GNAS INHA PGR WT1
7 normal MP:0002873 9.65 CALB2 CYP19A1 DICER1 FOXL2 GNAS INHA
8 no phenotypic analysis MP:0003012 9.63 ANO6 DICER1 FOXL2 GNAS PGR WT1
9 reproductive system MP:0005389 9.23 AFP CYP19A1 DICER1 FOXL2 INHA NR5A1

Drugs & Therapeutics for Sex Cord-Gonadal Stromal Tumor

Drugs for Sex Cord-Gonadal Stromal Tumor (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 42)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carboplatin Approved Phase 3,Phase 2,Phase 1 41575-94-4 10339178 498142 38904
2
Paclitaxel Approved, Vet_approved Phase 3,Phase 2 33069-62-4 36314
3
Bleomycin Approved Phase 3,Phase 2 11056-06-7 5360373
4
Cisplatin Approved Phase 3,Phase 2 15663-27-1 84093 441203 2767
5
Etoposide Approved Phase 3,Phase 2 33419-42-0 36462
6 Albumin-Bound Paclitaxel Phase 3,Phase 2
7 Antimitotic Agents Phase 3,Phase 2
8 Antineoplastic Agents, Phytogenic Phase 3,Phase 2
9 Anti-Bacterial Agents Phase 3,Phase 2
10 Antibiotics, Antitubercular Phase 3,Phase 2
11 Etoposide phosphate Phase 3,Phase 2
12 Topoisomerase Inhibitors Phase 3,Phase 2
13
Succinylcholine Approved Phase 2 306-40-1 5314
14
nivolumab Approved Phase 2 946414-94-4
15
Bevacizumab Approved, Investigational Phase 2 216974-75-3
16
Ketoconazole Approved, Investigational Phase 2 65277-42-1 47576 3823
17
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
18 Anti-Infective Agents Phase 2,Phase 1
19 Neuromuscular Agents Phase 2
20 Neuromuscular Blocking Agents Phase 2
21 Neuromuscular Depolarizing Agents Phase 2
22 Peripheral Nervous System Agents Phase 2
23 Antibodies Phase 2
24 Antibodies, Monoclonal Phase 2
25 Immunoglobulins Phase 2
26 Angiogenesis Inhibitors Phase 2
27 Angiogenesis Modulating Agents Phase 2
28 Endothelial Growth Factors Phase 2
29 Immunoglobulin G Phase 2
30 Mitogens Phase 2
31 Antifungal Agents Phase 2
32 Cytochrome P-450 CYP3A Inhibitors Phase 2
33 Cytochrome P-450 Enzyme Inhibitors Phase 2
34 Hormone Antagonists Phase 2
35 Hormones Phase 2
36 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
37 Steroid Synthesis Inhibitors Phase 2
38
Gemcitabine Approved Phase 1 95058-81-4 60750
39 Antimetabolites Phase 1
40 Antimetabolites, Antineoplastic Phase 1
41 Antiviral Agents Phase 1
42 Immunosuppressive Agents Phase 1

Interventional clinical trials:

(show all 13)
id Name Status NCT ID Phase
1 TC or BEP in Treating Patients With Ovarian Malignant Sex Cord-Stromal Tumors Enrolling by invitation NCT02429700 Phase 3
2 Paclitaxel in Treating Patients With Ovarian Stromal Cancer Completed NCT00006227 Phase 2
3 Paclitaxel and Carboplatin or Bleomycin Sulfate, Etoposide Phosphate, and Cisplatin in Treating Patients With Advanced or Recurrent Sex Cord-Ovarian Stromal Tumors Recruiting NCT01042522 Phase 2
4 Nivolumab and Ipilimumab in Treating Patients With Rare Tumors Recruiting NCT02834013 Phase 2
5 Efficacy and Safety of Bevacizumab (Avastin®) Combined to Weekly Paclitaxel Followed by Bevacizumab (Avastin®) Alone in Patients With Relapsed Ovarian Sex-cord Stromal Tumours (ALIENOR) Active, not recruiting NCT01770301 Phase 2
6 Bevacizumab in Treating Patients With Recurrent Sex Cord-Stromal Tumors of the Ovary Active, not recruiting NCT00748657 Phase 2
7 Ketoconazole as Inhibitor of the Enzyme CYP17 in Locally Advanced or Disseminated Granulosa Cell Tumour of Ovary Terminated NCT01584297 Phase 2
8 Carboplatin, Gemcitabine Hydrochloride, and Stereotactic Body Radiation Therapy in Gynecological Cancer Completed NCT01652794 Phase 1
9 Studying Genes in Samples From Younger Patients With Ovarian or Testicular Sex Cord Stromal Tumors Completed NCT01572467
10 Stress Reduction in Improving Quality of Life in Patients With Recurrent Gynecologic or Breast Cancer Completed NCT01764789
11 International Ovarian & Testicular Stromal Tumor Registry Recruiting NCT01970696
12 DICER1-related Pleuropulmonary Blastoma Cancer Predisposition Syndrome: A Natural History Study Recruiting NCT01247597
13 Elucidating the Genetic Basis of the Pleuropulmonary Blastoma (PPB) Familial Cancer Syndrome Recruiting NCT00565903

Search NIH Clinical Center for Sex Cord-Gonadal Stromal Tumor

Cochrane evidence based reviews: sex cord-gonadal stromal tumors

Genetic Tests for Sex Cord-Gonadal Stromal Tumor

Anatomical Context for Sex Cord-Gonadal Stromal Tumor

MalaCards organs/tissues related to Sex Cord-Gonadal Stromal Tumor:

39
Testis, Ovary

The Foundational Model of Anatomy Ontology organs/tissues related to Sex Cord-Gonadal Stromal Tumor:

18
The Sex Cord-Derived Tissues Of The Ovary

Publications for Sex Cord-Gonadal Stromal Tumor

Articles related to Sex Cord-Gonadal Stromal Tumor:

id Title Authors Year
1
Sex cord-gonadal stromal tumor of the rete testis. ( 19125206 )
2009
2
Incompletely differentiated (unclassified) sex cord/gonadal stromal tumor of the testis with a "pure" spindle cell component: report of a case with diagnostic and histogenetic considerations. ( 17850986 )
2007
3
An enormous testicular sex cord/gonadal stromal tumor. ( 8811574 )
1996
4
Response of metastasized sex cord gonadal stromal tumor of the testis to cisplatin-based chemotherapy. ( 7510344 )
1994
5
Sertoli-Leydig cell testicular tumor: case report and review of sex cord/gonadal stromal tumor histogenesis. ( 1512847 )
1992

Variations for Sex Cord-Gonadal Stromal Tumor

ClinVar genetic disease variations for Sex Cord-Gonadal Stromal Tumor:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 GNAS NM_000516.5(GNAS): c.601C> T (p.Arg201Cys) single nucleotide variant Pathogenic/Likely pathogenic rs11554273 GRCh37 Chromosome 20, 57484420: 57484420
2 GNAS NM_000516.5(GNAS): c.602G> A (p.Arg201His) single nucleotide variant Pathogenic/Likely pathogenic rs121913495 GRCh37 Chromosome 20, 57484421: 57484421

Expression for Sex Cord-Gonadal Stromal Tumor

Search GEO for disease gene expression data for Sex Cord-Gonadal Stromal Tumor.

Pathways for Sex Cord-Gonadal Stromal Tumor

Pathways related to Sex Cord-Gonadal Stromal Tumor according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 11.26 AFP NCAM1 WT1
2 10.43 CYP19A1 INHA NR5A1 PGR

GO Terms for Sex Cord-Gonadal Stromal Tumor

Biological processes related to Sex Cord-Gonadal Stromal Tumor according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 male gonad development GO:0008584 9.58 INHA NR5A1 WT1
2 adrenal gland development GO:0030325 9.48 NR5A1 WT1
3 tissue development GO:0009888 9.46 NR5A1 WT1
4 uterus development GO:0060065 9.43 CYP19A1 FOXL2
5 ovulation from ovarian follicle GO:0001542 9.37 AFP PGR
6 sex determination GO:0007530 9.32 NR5A1 WT1
7 positive regulation of male gonad development GO:2000020 9.26 NR5A1 WT1
8 positive regulation of follicle-stimulating hormone secretion GO:0046881 9.16 FOXL2 INHA
9 negative regulation of female gonad development GO:2000195 8.96 NR5A1 WT1
10 female gonad development GO:0008585 8.8 CYP19A1 FOXL2 NR5A1

Sources for Sex Cord-Gonadal Stromal Tumor

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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