MCID: GND001
MIFTS: 44

Gonadoblastoma malady

Categories: Reproductive diseases, Rare diseases, Cancer diseases

Aliases & Classifications for Gonadoblastoma

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Sources:
50OMIM, 11Disease Ontology, 13DISEASES, 52Orphanet, 25GTR, 48Novoseek, 37MeSH, 66UMLS, 43NCIt, 29ICD10 via Orphanet, 60SNOMED-CT, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Gonadoblastoma:

Name: Gonadoblastoma 50 11 13 25 48 37 66
 
Ovarian Gonadoblastoma 52 66

Characteristics:

Orphanet epidemiological data:

52
ovarian gonadoblastoma:
Age of onset: Adolescent

HPO:

62
gonadoblastoma:
Inheritance: y-linked inheritance


Classifications:



External Ids:

OMIM50 424500
Disease Ontology11 DOID:3301
MeSH37 D018238
SNOMED-CT60 74751003
NCIt43 C3754
Orphanet52 ORPHA206484
ICD10 via Orphanet29 D39.1

Summaries for Gonadoblastoma

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Wikipedia:69 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:50 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 82)
idRelated DiseaseScoreTop Affiliating Genes
1mixed gonadal dysgenesis28.4FOXL2, SOX9, SRY, TSPY1, WT1
2ovarian gonadoblastoma12.2
3testicular gonadoblastoma12.1
4wagr syndrome11.3
5frasier syndrome10.6
6gonadal dysgenesis10.6
7sideroblastic anemia pyridoxine-responsive autosomal recessive10.5ALPPL2, SRY
8spermatogenic failure, y-linked, 110.4SOX9, SRY
9drug-induced vasculitis10.4SOX9, SRY
1048,xxxy syndrome10.4SOX9, SRY
11prostate adenocarcinoma10.4SOX9, SRY
12leukorrhea10.4SOX9, SRY
13nephrogenic adenofibroma10.3KIT, SRY
14prolapse of lacrimal gland10.3ALPP, SRY
15alveolar soft-part sarcoma10.2SOX9, SRY
16turner syndrome10.2
17brain sarcoma10.2KIT, SRY
18signet ring cell adenocarcinoma10.2SRY, TSPY1
19seminoma10.1
2046 xx gonadal dysgenesis10.1SOX9, SRY
21candidiasis10.1FOXL2, SRY
22farmer's lung10.0FOXL2, SOX9, SRY
23aniridia10.0
24hermaphroditism10.0
25pseudohermaphroditism10.0
26wrinkles10.0SRY, WT1
27prostate cancer9.9
28prostatitis9.9
29embryonal carcinoma9.9
30sertoli cell tumor9.9
31multiple synostoses syndrome9.9KIT, SOX9, SRY
32gestational trophoblastic neoplasm9.9KIT, WT1
33congenital disorder of glycosylation, type iq9.9KIT, WT1
34dysembryoplastic neuroepithelial tumor9.9KIT, WT1
35klinefelter's syndrome9.9FOXL2, WT1
36epithelioid leiomyosarcoma9.8KIT, WT1
37breast cancer9.8
38denys-drash syndrome9.8
39ataxia-telangiectasia9.8
40peutz-jeghers syndrome9.8
41amenorrhea9.8
42cervicitis9.8
43choriocarcinoma9.8
44precocious puberty9.8
45malignant germ cell tumor9.8
46testicular seminoma9.8
47ataxia9.8
48mixed germ cell tumor9.8
49vulvar liposarcoma9.8KIT, WT1
50t-b+ severe combined immunodeficiency due to cd3delta/cd3epsilon/cd3zeta9.8KIT, WT1

Graphical network of the top 20 diseases related to Gonadoblastoma:



Diseases related to gonadoblastoma

Symptoms for Gonadoblastoma

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Symptoms by clinical synopsis from OMIM:

424500

Clinical features from OMIM:

424500

Symptoms:

 52 (show all 11)
  • ambiguous genitalia
  • abnormality of the ovary
  • ovarian gonadoblastoma
  • hirsutism
  • abdominal pain
  • abdominal distention
  • female external genitalia in individual with 46,xy karyotype
  • gonadal dysgenesis with female appearance, male
  • gonadal calcification
  • increased testosterone
  • dysgerminoma

HPO human phenotypes related to Gonadoblastoma:

id Description Frequency HPO Source Accession
1 gonadoblastoma HP:0000150
2 abnormality of metabolism/homeostasis HP:0001939

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 Gonadoblastoma25

Anatomical Context for Gonadoblastoma

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MalaCards organs/tissues related to Gonadoblastoma:

34
Ovary, Testis, Prostate, Breast, Testes, Kidney

Animal Models for Gonadoblastoma or affiliated genes

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MGI Mouse Phenotypes related to Gonadoblastoma:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030128.4FOXL2, KIT, SOX9, TSPYL2, WT1
2MP:00053897.4ALPPL2, FOXL2, KIT, SOX9, TSPYL2, WT1

Publications for Gonadoblastoma

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Articles related to Gonadoblastoma:

(show top 50)    (show all 251)
idTitleAuthorsYear
1
Early Bilateral Gonadoblastoma in a Young Child with Mosaicism for Turner Syndrome and Trisomy 18 with Y Chromosome. (27614983)
2016
2
WT1 Deletion Leading to Severe 46,XY Gonadal Dysgenesis, Wilms Tumor and Gonadoblastoma: Case Report. (25613702)
2015
3
Gonadoblastoma with Dysgerminoma in a Phenotypically Turner-Like Girl with 45,X/46,XY Karyotype. (26777047)
2015
4
Gonadoblastoma and selected other aspects of gonadal pathology in young patients with disorders of sex development. (25129544)
2014
5
The Y-located gonadoblastoma gene TSPY amplifies its own expression through a positive feedback loop in prostate cancer cells. (24583132)
2014
6
Ovarian Gonadoblastoma with Dysgerminoma in a Young Girl with 46, XX Karyotype: A Case Report. (24179931)
2013
7
Early presentation of bilateral gonadoblastoma in Turner syndrome. (23337547)
2013
8
Expression of SALL4 and SF-1 in gonadoblastoma: useful markers in the identification of the invasive germ cell component. (23722510)
2013
9
Ovarian gonadoblastoma with dysgerminoma in a 15-year-old girl with 46, XX karyotype: case report and review of the literature. (21879333)
2012
10
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
11
Bilateral ovarian gonadoblastoma with coexisting dysgerminoma in a girl with 46, XX karyotype. (20598061)
2010
12
46 XY pure gonadal dysgenesis with gonadoblastoma and dysgerminoma. (19472738)
2008
13
Gonadoblastoma progressing to dysgerminoma in a 55-year-old woman with normal karyotype: follow-up studies. (18752139)
2008
14
Bilateral gonadoblastomas with a left sided dysgerminoma in a true hermaphrodite (disorder of sexual differentiation) with 46, XY karyotype. (18846912)
2008
15
Presence of TSPY transcript and absence of transcripts of other Y chromosomal genes in a case of microscopic gonadoblastoma. (16784771)
2006
16
A 46,X,inv(Y) young woman with gonadal dysgenesis and gonadoblastoma: cytogenetics, molecular, and methylation studies. (16333824)
2006
17
Identification of germ cells at risk for neoplastic transformation in gonadoblastoma: an immunohistochemical study for OCT3/4 and TSPY. (15948118)
2005
18
Bilateral gonadoblastoma with extended calcification: case report of a tumor developing on dysgenetic gonads. (15991539)
2005
19
Bilateral gonadoblastomas in a dog with mixed gonadal dysgenesis. (15003485)
2004
20
A case of XY pure gonadal dysgenesis with 46,XYp-/47,XXYp- karyotype whose gonadoblastoma was removed laparoscopically. (11014948)
2000
21
Human endogenous retrovirus (HERV)-K transcripts in gonadoblastomas and gonadoblastoma-derived germ cell tumours. (10071229)
1999
22
Aniridia, gonadoblastoma, Wilms' tumor and deletion 11p13. (9588071)
1998
23
Heterogeneity of gonadoblastoma germ cells: similarities with immature germ cells, spermatogonia and testicular carcinoma in situ cells. (9190360)
1997
24
Gonadoblastoma with dysgerminoma in one ovary and gonadoblastoma with dysgerminoma and yolk sac tumor in the contralateral ovary in a girl with 46XX karyotype. (7789879)
1995
25
XY gonadal dysgenesis and gonadoblastoma: a study in two sisters with a cryptic deletion of the Y chromosome involving the SRY gene. (7814028)
1995
26
Gonadoblastoma and fertility. (1401220)
1992
27
Minute Y chromosome derived marker in a child with gonadoblastoma: cytogenetic and DNA studies. (1518023)
1992
28
Gonadoblastoma in an anatomically normal man: a case report and literature review. (2231948)
1990
29
46,XY pure gonadal dysgenesis with gonadoblastoma. (2592807)
1989
30
Gonadoblastoma. Immunohistochemical and ultrastructural observations. (2707955)
1989
31
Ovarian gonadoblastoma with dysgerminoma in a woman with two normal children. (2744756)
1989
32
Ambiguous genitalia, gonadoblastoma, aniridia and mental retardation with deletion of chromosome 11. (2810512)
1989
33
Unilateral microscopic gonadoblastoma in a prepubertal Turner mosaic with Y chromosome material identified by restriction fragment analysis. (3177277)
1988
34
Hypothesis: a Y-chromosomal gene causes gonadoblastoma in dysgenetic gonads. (3503713)
1987
35
Coexisting rete testis adenoma and gonadoblastoma. (7062394)
1982
36
Chronic renal disease, myotonic dystrophy, and gonadoblastoma in XY gonadal dysgenesis. (7069752)
1982
37
Mixed germ cell-sex cord stromal tumor. A gonadal tumor distinct from gonadoblastoma. (7223719)
1981
38
Gonadoblastoma and dysgerminoma in a true hermaphrodite with a 46,XX karyotype. (7246672)
1981
39
Production of testosterone and estrogen in vitro by gonadal tissue from a 46,XY true hermaphrodite with gonadal failure and gonadoblastoma. (7254737)
1981
40
Microscopic gonadoblastoma in dysgenetic gonad of an infant: an ultrastructural study. (7394994)
1980
41
46, XY gonadal dysgenesis with secondary amenorrhea, virilization, and bilateral gonadoblastomas. (572994)
1979
42
Bilateral gonadoblastoma in a phenotypic female with 45,X/46,X, dicentric iso Y [45,X/46,X,idic(Yq)] mosaicism. (569512)
1978
43
Ultrastructure of gonadoblastoma. (1167443)
1975
44
Ataxia-telangiectasia with ovarian gonadoblastoma and contralateral dysgerminoma. (1192368)
1975
45
45,X/46,XY/47,XYY mosaicism in a phenotypic female with gonadoblastoma. (4469141)
1974
46
The endocrine and histological pattern of a gonadoblastoma with teratoid elements and normal female karyotype. (4416255)
1974
47
Gonadoblastoma and dysgerminoma in two siblings with dysgenetic gonads. (5094323)
1971
48
Coexisting Brenner tumor and struma ovarii (mature gonadoblastoma). Report of a case. (5760238)
1968
49
SIGNIFICANCE OF CHROMOSOMAL INVESTIGATION OF SOMATIC CELLS TO DETERMINE THE GENETIC ORIGIN OF GONADOBLASTOMA: GONOCYTOMA 3. (14185488)
1964
50
"MIXED" GONADAL DYSGENESIS WITH GONADOBLASTOMA IN SITU. (14241519)
1964

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
1ovarian follicle developmentGO:000154110.1FOXL2, KIT
2branching involved in ureteric bud morphogenesisGO:00016589.9SOX9, WT1
3response to radiationGO:00093149.8CAT, KIT
4nucleosome assemblyGO:00063349.7SOX9, TSPY1, TSPYL2
5male sex determinationGO:00302389.6SOX9, SRY
6ureteric bud developmentGO:00016579.6CAT, WT1
7positive regulation of male gonad developmentGO:20000209.4SOX9, SRY, WT1
8positive regulation of phosphatidylinositol 3-kinase signalingGO:00140689.2CAT, KIT, SOX9
9cell differentiationGO:00301549.2FOXL2, SOX9, SRY, TSPY1
10positive regulation of transcription, DNA-templatedGO:00458939.0FOXL2, SOX9, SRY, WT1
11male gonad developmentGO:00085849.0KIT, SOX9, SRY, WT1
12negative regulation of transcription from RNA polymerase II promoterGO:00001228.8FOXL2, SOX9, SRY, WT1

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

idNameGO IDScoreTop Affiliating Genes
1alkaline phosphatase activityGO:00040359.6ALPP, 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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet