MCID: GND001
MIFTS: 42

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 27 50 39 13 68
 
Ovarian Gonadoblastoma 54 68

Characteristics:

Orphanet epidemiological data:

54
ovarian 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, also known as ovarian gonadoblastoma, is related to mixed gonadal dysgenesis 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 are Deactivation of the beta-catenin transactivating complex and Folate biosynthesis. Affiliated tissues include ovary, testis and prostate, and related mouse phenotypes are no phenotypic analysis and reproductive system.

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 81)
idRelated DiseaseScoreTop Affiliating Genes
1mixed gonadal dysgenesis28.4FOXL2, SOX9, SRY, TSPY1, WT1
2ovarian gonadoblastoma12.0
3testicular gonadoblastoma12.0
4wagr syndrome11.4
5frasier syndrome11.2
6sideroblastic anemia pyridoxine-responsive autosomal recessive10.4ALPPL2, SRY
7gonadal dysgenesis10.4
8spermatogenic failure, y-linked, 110.4SOX9, SRY
9drug-induced vasculitis10.4SOX9, SRY
1048,xxxy syndrome10.4SOX9, SRY
11prostate adenocarcinoma10.3SOX9, SRY
12leukorrhea10.3SOX9, SRY
13nephrogenic adenofibroma10.3KIT, SRY
14prolapse of lacrimal gland10.2ALPP, SRY
15alveolar soft-part sarcoma10.2SOX9, SRY
16brain sarcoma10.2KIT, SRY
17signet ring cell adenocarcinoma10.2SRY, TSPY1
1846 xx gonadal dysgenesis10.1SOX9, SRY
19turner syndrome10.1
20candidiasis10.1FOXL2, SRY
21farmer's lung10.0FOXL2, SOX9, SRY
22seminoma10.0
23wrinkles10.0SRY, WT1
24multiple synostoses syndrome9.9KIT, SOX9, SRY
25aniridia9.9
26hermaphroditism9.9
27congenital disorder of glycosylation, type iq9.9KIT, WT1
28dysembryoplastic neuroepithelial tumor9.9KIT, WT1
29pseudohermaphroditism9.9
30klinefelter's syndrome9.9FOXL2, WT1
31epithelioid leiomyosarcoma9.8KIT, WT1
32vulvar liposarcoma9.8KIT, WT1
33t-b+ severe combined immunodeficiency due to cd3delta/cd3epsilon/cd3zeta9.8KIT, WT1
34prostate cancer9.8
35prostatitis9.8
36embryonal carcinoma9.8
37sertoli cell tumor9.8
38vulvar sebaceous carcinoma9.8KIT, WT1
39central nervous system rhabdomyosarcoma9.8KIT, WT1
40gastrointestinal system cancer9.8ALPP, WT1
41pulmonary immaturity9.7KIT, WT1
42breast cancer9.7
43denys-drash syndrome9.7
44ataxia-telangiectasia9.7
45peutz-jeghers syndrome9.7
46amenorrhea9.7
47cervicitis9.7
48choriocarcinoma9.7
49malignant germ cell tumor9.7
50precocious puberty9.7

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 13)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ambiguous genitalia54 Occasional (29-5%)
2 abnormality of the ovary54 Very frequent (99-80%)
3 ovarian gonadoblastoma54
Very frequent (99-80%)
4 hirsutism54 Occasional (29-5%)
5 abdominal pain54 Occasional (29-5%)
6 abdominal distention54 Occasional (29-5%)
7 female external genitalia in individual with 46,xy karyotype54 Very frequent (99-80%)
8 gonadal dysgenesis with female appearance, male54 Frequent (79-30%)
9 gonadal calcification54 Frequent (79-30%)
10 increased testosterone54 Occasional (29-5%)
11 dysgerminoma54 Frequent (79-30%)
12 gonadoblastoma64 HP:0000150
13 abnormality of metabolism/homeostasis64 HP:0001939

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

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030129.1FOXL2, KIT, SOX9, TSPYL2, WT1
2MP:00053897.5ALPPL2, 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, Testes, Kidney

Publications for Gonadoblastoma

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Articles related to Gonadoblastoma:

(show top 50)    (show all 252)
idTitleAuthorsYear
1
Early Bilateral Gonadoblastoma in a Young Child with Mosaicism for Turner Syndrome and Trisomy 18 with Y Chromosome. (27614983)
2016
2
Gonadoblastoma and papillary tubal hyperplasia in ovotesticular syndrome. (27087521)
2016
3
Swyer's Syndrome with Mixed Ovarian Malignant Germ Cell Tumor and Ovarian Gonadoblastoma. (27411466)
2016
4
Unilateral gonadoblastoma with dysgerminoma in normal fertile woman having a child: Extremely rare occurrence with characteristic immunohistomorphology. (27721289)
2016
5
Gonadoblastoma in patients with 45,X/46,XY mosaicism: A 16-year experience. (27052295)
2016
6
WT1 Deletion Leading to Severe 46,XY Gonadal Dysgenesis, Wilms Tumor and Gonadoblastoma: Case Report. (25613702)
2015
7
Gonadoblastoma with Dysgerminoma in a Phenotypically Turner-Like Girl with 45,X/46,XY Karyotype. (26777047)
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 and selected other aspects of gonadal pathology in young patients with disorders of sex development. (25129544)
2014
11
The Y-located gonadoblastoma gene TSPY amplifies its own expression through a positive feedback loop in prostate cancer cells. (24583132)
2014
12
Gonadoblastoma: an immunohistochemical study and comparison to Sertoli cell nodule with intratubular germ cell neoplasia, with pathogenetic implications. (24766183)
2014
13
Analyses of Gonadoblastoma Y (GBY)-locus and of Y Centromere in Turner Syndrome Patients. (25314650)
2014
14
Dysgerminoma on a gonadoblastoma in a patient with Swyer syndrome treated with single incision laparoscopic surgery. (24960113)
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
Ovarian Gonadoblastoma with Dysgerminoma in a Young Girl with 46, XX Karyotype: A Case Report. (24179931)
2013
18
Early presentation of bilateral gonadoblastoma in Turner syndrome. (23337547)
2013
19
Expression of SALL4 and SF-1 in gonadoblastoma: useful markers in the identification of the invasive germ cell component. (23722510)
2013
20
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
21
Early presentation of bilateral gonadoblastomas in a Denys-Drash syndrome patient: a cautionary tale for prophylactic gonadectomy. (23729537)
2013
22
Ovarian gonadoblastoma with dysgerminoma in a 15-year-old girl with 46, XX karyotype: case report and review of the literature. (21879333)
2012
23
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
24
Prevalence of c-KIT mutations in gonadoblastoma and dysgerminomas of patients with disorders of sex development (DSD) and ovarian dysgerminomas. (22937135)
2012
25
Gonadoblastoma: Case report of two young patients with isochromosome 12p found in the dysgerminoma overgrowth component in one case. (22906432)
2012
26
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
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
Gonadoblastoma in the ovaries of a lesser galago (Galago senegalensis braccatus). (22520808)
2012
29
Role of the Y-located putative gonadoblastoma gene in human spermatogenesis. (21204751)
2011
30
Denys-Drash syndrome and gonadoblastoma in a patient with Klinefelter syndrome. (21552011)
2011
31
FOXL2 and SOX9 distinguish the lineage of the sex cord-stromal cells in gonadoblastomas. (21682576)
2011
32
Testicular gonadoblastoma in two pet domestic rabbits (Oryctolagus cuniculus domesticus). (21908369)
2011
33
Ovarian gonadoblastoma with dysgerminoma in a woman with 46XX karyotype. (21355962)
2011
34
Coexistence of gonadoblastoma and dysgerminoma in a dysgenetic gonad on touch preparation: a case report. (21162092)
2011
35
Bilateral ovarian gonadoblastoma with coexisting dysgerminoma in a girl with 46, XX karyotype. (20598061)
2010
36
Bilateral gonadoblastomas with unilateral dysgerminoma in a case of 46 XY pure gonadal dysgenesis (Swyer syndrome). (20551568)
2010
37
Gonadoblastoma: an unusual ovarian tumor. (20637428)
2010
38
Left ovarian gonadoblastoma with yolk sac tumor in a young woman. (20551554)
2010
39
The chromosome Y-linked testis-specific protein locus TSPY1 is characteristically present in gonadoblastoma. (20656323)
2010
40
Frasier syndrome: early gonadoblastoma and cyclosporine responsiveness. (20419325)
2010
41
Sertoli cell tumor with benign peritoneal implants associated with gonadoblastoma. (20736766)
2010
42
Coexistence of a choriocarcinoma and a gonadoblastoma in the gonad of a 46,XY female: a single nucleotide polymorphism array analysis. (19425818)
2010
43
A clinical and molecular project on gonadoblastoma needs international collaboration. (21139936)
2009
44
Bilateral gonadoblastoma with dysgerminoma and pilocytic astrocytoma with WT1 GT-IVS9 mutation: A 46 XY phenotypic female with Frasier syndrome. (19653292)
2009
45
SRY gene increases the risk of developing gonadoblastoma and/or nontumoral gonadal lesions in Turner syndrome. (19188812)
2009
46
Gonadoblastoma locus and the TSPY gene on the human Y chromosome. (19306348)
2009
47
A novel SRY missense mutation affecting nuclear import in a 46,XY female patient with bilateral gonadoblastoma. (19513096)
2009
48
46 XY pure gonadal dysgenesis with gonadoblastoma and dysgerminoma. (19472738)
2008
49
Gonadoblastoma progressing to dysgerminoma in a 55-year-old woman with normal karyotype: follow-up studies. (18752139)
2008
50
Bilateral gonadoblastomas with a left sided dysgerminoma in a true hermaphrodite (disorder of sexual differentiation) with 46, XY karyotype. (18846912)
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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GO Terms for genes affiliated with Gonadoblastoma

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Cellular components related to Gonadoblastoma according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1nuclear transcription factor complexGO:00447989.6SOX9, SRY

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1male sex determinationGO:003023810.4SOX9, SRY
2ovarian follicle developmentGO:000154110.4FOXL2, KIT
3branching involved in ureteric bud morphogenesisGO:000165810.3SOX9, WT1
4response to radiationGO:00093149.9CAT, KIT
5positive regulation of male gonad developmentGO:20000209.9SOX9, SRY, WT1
6nucleosome assemblyGO:00063349.9SOX9, TSPY1, TSPYL2
7positive regulation of phosphatidylinositol 3-kinase signalingGO:00140689.7CAT, KIT, SOX9
8male gonad developmentGO:00085849.6KIT, SOX9, SRY, WT1
9cell differentiationGO:00301549.6FOXL2, SOX9, SRY, TSPY1
10negative regulation of transcription from RNA polymerase II promoterGO:00001229.5FOXL2, SOX9, SRY, WT1
11ureteric bud developmentGO:00016579.5CAT, WT1
12positive regulation of transcription, DNA-templatedGO:00458939.3FOXL2, SOX9, SRY, WT1

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

idNameGO IDScoreTop Affiliating Genes
1alkaline phosphatase activityGO:00040359.7ALPP, ALPPL2
2transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:00010779.1FOXL2, 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