MCID: GND001
MIFTS: 41

Gonadoblastoma malady

Categories: Reproductive diseases, Rare diseases, Cancer diseases

Aliases & Classifications for Gonadoblastoma

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Sources:
11Disease Ontology, 13DISEASES, 27GTR, 31ICD10 via Orphanet, 39MeSH, 45NCIt, 50Novoseek, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS
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Aliases & Descriptions for Gonadoblastoma:

Name: Gonadoblastoma 52 11 54 27 50 39 13 68

Characteristics:

Orphanet epidemiological data:

54
gonadoblastoma:
Age of onset: Adolescent

HPO:

64
gonadoblastoma:
Inheritance: y-linked inheritance

Classifications:



External Ids:

OMIM52 424500
Disease Ontology11 DOID:3301
MeSH39 D018238
SNOMED-CT62 74751003
NCIt45 C3754
Orphanet54 ORPHA206484
ICD10 via Orphanet31 D39.1

Summaries for Gonadoblastoma

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Wikipedia:71 A gonadoblastoma is a complex neoplasm composed of a mixture of gonadal elements, such as large... more...

MalaCards based summary: Gonadoblastoma is related to choriocarcinoma and ovarian gonadoblastoma, and has symptoms including Array, Array and Array. An important gene associated with Gonadoblastoma is TSPY1 (Testis Specific Protein, Y-Linked 1), and among its related pathways is Deactivation of the beta-catenin transactivating complex. Affiliated tissues include ovary, testis and prostate, and related mouse phenotypes are neoplasm and no phenotypic analysis.

Disease Ontology:11 A cell type benign neoplasm that is composed of a mixture of gonadal elements.

Description from OMIM:52 424500

Related Diseases for Gonadoblastoma

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Diseases related to Gonadoblastoma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 75)
idRelated DiseaseScoreTop Affiliating Genes
1choriocarcinoma29.8KIT, WT1
2ovarian gonadoblastoma12.0
3testicular gonadoblastoma12.0
4wagr syndrome11.4
5frasier syndrome11.2
6gonadal dysgenesis10.4
7central nervous system sarcoma10.2KIT, SRY
8congenital articular rigidity10.2ALPPL2, SRY
98p23.1 duplication syndrome10.1SOX9, SRY
10kahrizi syndrome10.1KIT, WT1
11liver angiosarcoma10.1KIT, WT1
12spermatogenic failure, y-linked, 110.1SOX9, SRY
13disease_ontology10.1SRY, WT1
14hyperandrogenism due to cortisone reductase deficiency10.1KIT, WT1
15intraventricular meningioma10.1SOX9, SRY
16diffuse glomerulonephritis10.1KIT, WT1
17hormone producing pituitary cancer10.1KIT, WT1
18autosomal dominant optic atrophy and late-onset deafness10.1SOX9, SRY
19turner syndrome10.1
20small intestinal sarcoma10.1KIT, WT1
21splenic disease10.1SOX9, SRY
22hereditary renal cell carcinoma10.1ALPPL2, KIT, TSPY1
23alveolar soft-part sarcoma10.1SOX9, SRY
24familial hyperaldosteronism10.1KIT, WT1
25pneumonia10.0KIT, WT1
26van regemorter pierquin vamos syndrome10.0KIT, WT1
27seminoma10.0
28farmer's lung10.0SOX9, SRY
29coronary restenosis10.0KIT, WT1
30sex differentiation disease10.0FOXL2, WT1
31brucella melitensis brucellosis9.9FOXL2, SOX9, SRY
32deafness, autosomal recessive 519.9SOX9, SRY, WT1
33benign essential hypertension9.9SOX9, SRY, WT1
34aniridia9.9
35hermaphroditism9.9
36cerebral cavernous malformations-29.9SOX9, SRY, WT1
37mediastinum sarcoma9.9KIT, WT1
38mixed gonadal dysgenesis9.9
39pseudohermaphroditism9.9
40prostate cancer9.8
41prostatitis9.8
42embryonal carcinoma9.8
43sertoli cell tumor9.8
44breast cancer9.7
45denys-drash syndrome9.7
46ataxia-telangiectasia9.7
47peutz-jeghers syndrome9.7
48amenorrhea9.7
49cervicitis9.7
50malignant germ cell tumor9.7

Graphical network of the top 20 diseases related to Gonadoblastoma:



Diseases related to gonadoblastoma

Symptoms & Phenotypes for Gonadoblastoma

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Symptoms by clinical synopsis from OMIM:

424500

Clinical features from OMIM:

424500

Human phenotypes related to Gonadoblastoma:

 54 64 (show all 14)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ambiguous genitalia64 54 Occasional (29-5%) HP:0000062
2 abnormality of the ovary54 Very frequent (99-80%)
3 ovarian gonadoblastoma64 54
Very frequent (99-80%) HP:0000149
4 hirsutism64 54 Occasional (29-5%) HP:0001007
5 abdominal pain64 54 Occasional (29-5%) HP:0002027
6 abdominal distention64 54 Occasional (29-5%) HP:0003270
7 female external genitalia in individual with 46,xy karyotype64 54 Very frequent (99-80%) HP:0008730
8 gonadal dysgenesis with female appearance, male64 54 Frequent (79-30%) HP:0008723
9 gonadal calcification64 54 Frequent (79-30%) HP:0008703
10 increased testosterone54 Occasional (29-5%)
11 dysgerminoma64 54 Frequent (79-30%) HP:0100621
12 gonadoblastoma64 HP:0000150
13 abnormality of metabolism/homeostasis64 HP:0001939
14 increased serum testosterone level64 HP:0030088

MGI Mouse Phenotypes related to Gonadoblastoma according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020069.2CAT, KIT, TSPYL2, WT1
2MP:00030128.8FOXL2, KIT, SOX9, TSPYL2, WT1
3MP:00053897.6ALPPL2, FOXL2, KIT, SOX9, TSPYL2, WT1

Drugs & Therapeutics for Gonadoblastoma

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Gonadoblastoma


Cochrane evidence based reviews: gonadoblastoma

Genetic Tests for Gonadoblastoma

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Genetic tests related to Gonadoblastoma:

id Genetic test Affiliating Genes
1 Gonadoblastoma27

Anatomical Context for Gonadoblastoma

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MalaCards organs/tissues related to Gonadoblastoma:

36
Ovary, Testis, Prostate, Breast, Testes, Kidney

Publications for Gonadoblastoma

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Articles related to Gonadoblastoma:

(show top 50)    (show all 253)
idTitleAuthorsYear
1
Risk of Gonadoblastoma Development in Patients with Turner Syndrome with Cryptic Y Chromosome Material. (28349385)
2017
2
Gonadoblastoma and papillary tubal hyperplasia in ovotesticular syndrome. (27087521)
2016
3
Early Bilateral Gonadoblastoma in a Young Child with Mosaicism for Turner Syndrome and Trisomy 18 with Y Chromosome. (27614983)
2016
4
Swyer's Syndrome with Mixed Ovarian Malignant Germ Cell Tumor and Ovarian Gonadoblastoma. (27411466)
2016
5
Unilateral gonadoblastoma with dysgerminoma in normal fertile woman having a child: Extremely rare occurrence with characteristic immunohistomorphology. (27721289)
2016
6
Gonadoblastoma in patients with 45,X/46,XY mosaicism: A 16-year experience. (27052295)
2016
7
WT1 Deletion Leading to Severe 46,XY Gonadal Dysgenesis, Wilms Tumor and Gonadoblastoma: Case Report. (25613702)
2015
8
Gonadoblastoma in patients with ullrich-turner syndrome. (25535833)
2015
9
Occurrence of Gonadoblastoma in Patients with 45,X/46,XY Mosaicism. (26046609)
2015
10
Gonadoblastoma with Dysgerminoma in a Phenotypically Turner-Like Girl with 45,X/46,XY Karyotype. (26777047)
2015
11
Dysgerminoma on a gonadoblastoma in a patient with Swyer syndrome treated with single incision laparoscopic surgery. (24960113)
2014
12
Analyses of Gonadoblastoma Y (GBY)-locus and of Y Centromere in Turner Syndrome Patients. (25314650)
2014
13
Gonadoblastoma: an immunohistochemical study and comparison to Sertoli cell nodule with intratubular germ cell neoplasia, with pathogenetic implications. (24766183)
2014
14
Gonadoblastoma and selected other aspects of gonadal pathology in young patients with disorders of sex development. (25129544)
2014
15
46,XY female sex reversal syndrome with bilateral gonadoblastoma and dysgerminoma. (25187804)
2014
16
Gonadoblastoma and hepatoid and endometrioid-like yolk sac tumor: an update. (24901396)
2014
17
The Y-located gonadoblastoma gene TSPY amplifies its own expression through a positive feedback loop in prostate cancer cells. (24583132)
2014
18
Early presentation of bilateral gonadoblastoma in Turner syndrome. (23337547)
2013
19
Ovarian Gonadoblastoma with Dysgerminoma in a Young Girl with 46, XX Karyotype: A Case Report. (24179931)
2013
20
Expression of SALL4 and SF-1 in gonadoblastoma: useful markers in the identification of the invasive germ cell component. (23722510)
2013
21
Utility of OCT3/4, TSPY and I^-catenin as biological markers for gonadoblastoma formation and malignant germ cell tumor development in dysgenetic gonads. (23396295)
2013
22
Early presentation of bilateral gonadoblastomas in a Denys-Drash syndrome patient: a cautionary tale for prophylactic gonadectomy. (23729537)
2013
23
Gonadoblastoma in the ovaries of a lesser galago (Galago senegalensis braccatus). (22520808)
2012
24
Bilateral dysgerminoma associated with gonadoblastoma and sex-cord stromal tumour with annular tubules in a 28-year-old fertile woman with normal karyotype. (22437743)
2012
25
Sertoli cell tumor and gonadoblastoma in an untreated 29-year-old 46,XY phenotypic male with Frasier syndrome carrying a WT1 IVS9+4C>T mutation. (22908070)
2012
26
Prevalence of c-KIT mutations in gonadoblastoma and dysgerminomas of patients with disorders of sex development (DSD) and ovarian dysgerminomas. (22937135)
2012
27
A 46,XY female DSD patient with bilateral gonadoblastoma, a novel SRY missense mutation combined with a WT1 KTS splice-site mutation. (22815844)
2012
28
Ovarian gonadoblastoma with dysgerminoma in a 15-year-old girl with 46, XX karyotype: case report and review of the literature. (21879333)
2012
29
Gonadoblastoma: Case report of two young patients with isochromosome 12p found in the dysgerminoma overgrowth component in one case. (22906432)
2012
30
Ovarian gonadoblastoma with dysgerminoma in a woman with 46XX karyotype. (21355962)
2011
31
Denys-Drash syndrome and gonadoblastoma in a patient with Klinefelter syndrome. (21552011)
2011
32
FOXL2 and SOX9 distinguish the lineage of the sex cord-stromal cells in gonadoblastomas. (21682576)
2011
33
Coexistence of gonadoblastoma and dysgerminoma in a dysgenetic gonad on touch preparation: a case report. (21162092)
2011
34
Role of the Y-located putative gonadoblastoma gene in human spermatogenesis. (21204751)
2011
35
Testicular gonadoblastoma in two pet domestic rabbits (Oryctolagus cuniculus domesticus). (21908369)
2011
36
Coexistence of a choriocarcinoma and a gonadoblastoma in the gonad of a 46,XY female: a single nucleotide polymorphism array analysis. (19425818)
2010
37
Sertoli cell tumor with benign peritoneal implants associated with gonadoblastoma. (20736766)
2010
38
Frasier syndrome: early gonadoblastoma and cyclosporine responsiveness. (20419325)
2010
39
Bilateral ovarian gonadoblastoma with coexisting dysgerminoma in a girl with 46, XX karyotype. (20598061)
2010
40
Bilateral gonadoblastomas with unilateral dysgerminoma in a case of 46 XY pure gonadal dysgenesis (Swyer syndrome). (20551568)
2010
41
Left ovarian gonadoblastoma with yolk sac tumor in a young woman. (20551554)
2010
42
Gonadoblastoma: an unusual ovarian tumor. (20637428)
2010
43
The chromosome Y-linked testis-specific protein locus TSPY1 is characteristically present in gonadoblastoma. (20656323)
2010
44
Bilateral gonadoblastoma with dysgerminoma and pilocytic astrocytoma with WT1 GT-IVS9 mutation: A 46 XY phenotypic female with Frasier syndrome. (19653292)
2009
45
A clinical and molecular project on gonadoblastoma needs international collaboration. (21139936)
2009
46
SRY gene increases the risk of developing gonadoblastoma and/or nontumoral gonadal lesions in Turner syndrome. (19188812)
2009
47
Gonadoblastoma locus and the TSPY gene on the human Y chromosome. (19306348)
2009
48
A novel SRY missense mutation affecting nuclear import in a 46,XY female patient with bilateral gonadoblastoma. (19513096)
2009
49
Bilateral gonadoblastomas with a left sided dysgerminoma in a true hermaphrodite (disorder of sexual differentiation) with 46, XY karyotype. (18846912)
2008
50
46 XY pure gonadal dysgenesis with gonadoblastoma and dysgerminoma. (19472738)
2008

Variations for Gonadoblastoma

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Expression for genes affiliated with Gonadoblastoma

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Search GEO for disease gene expression data for Gonadoblastoma.

Pathways for genes affiliated with Gonadoblastoma

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Pathways related to Gonadoblastoma according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.5SOX9, SRY

GO Terms for genes affiliated with Gonadoblastoma

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Biological processes related to Gonadoblastoma according to GeneCards Suite gene sharing:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1sex differentiationGO:000754810.3SRY, TSPY1
2ovarian follicle developmentGO:000154110.3FOXL2, KIT
3male sex determinationGO:003023810.2SOX9, SRY
4branching involved in ureteric bud morphogenesisGO:000165810.2SOX9, WT1
5somatic stem cell population maintenanceGO:00350199.9KIT, SOX9
6response to radiationGO:00093149.8CAT, KIT
7positive regulation of male gonad developmentGO:20000209.8SOX9, SRY, WT1
8nucleosome assemblyGO:00063349.8SOX9, TSPY1, TSPYL2
9male gonad developmentGO:00085849.8KIT, SOX9, WT1
10cell differentiationGO:00301549.4FOXL2, SOX9, SRY, TSPY1
11positive regulation of phosphatidylinositol 3-kinase signalingGO:00140689.4CAT, KIT, SOX9
12regulation of transcription from RNA polymerase II promoterGO:00063579.3KIT, SOX9, SRY, WT1
13positive regulation of transcription, DNA-templatedGO:00458939.3FOXL2, SOX9, SRY, WT1
14ureteric bud developmentGO:00016579.2CAT, WT1

Molecular functions related to Gonadoblastoma according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1transcription factor activity, RNA polymerase II distal enhancer sequence-specific bindingGO:000370510.1SOX9, SRY
2transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:00010778.9FOXL2, SOX9, WT1

Sources for Gonadoblastoma

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet