MCID: GND001
MIFTS: 41

Gonadoblastoma malady

Summaries for Gonadoblastoma

Sources:
8Disease Ontology, 64Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:64 A gonadoblastoma is a complex neoplasm composed of a mixture of gonadal elements, such as large... more...

MalaCards: Gonadoblastoma is related to dysgerminoma and turner syndrome. An important gene associated with Gonadoblastoma is SRY (sex determining region Y), and among its related pathways is Folate biosynthesis. The compounds dmrt and 7,8-dihydroneopterin have been mentioned in the context of this disorder. Affiliated tissues include ovary, kidney and breast, and related mouse phenotype reproductive system.

Disease Ontology:8 A cell type benign neoplasm that is composed of a mixture of gonadal elements.

Description from OMIM:47 424500

Aliases & Classifications for Gonadoblastoma

Sources:
8Disease Ontology, 10DISEASES, 45Novoseek, 61UMLS, 40NCIt, 35MeSH, 47OMIM, 57SNOMED-CT
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Aliases & Descriptions:

gonadoblastoma 8 10 45 61


External Ids:

Disease Ontology8 DOID:3301
NCIt40 C3754
SNOMED-CT57 74751003
MeSH35 D018238
OMIM47 424500

Related Diseases for Gonadoblastoma

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Gonadoblastoma via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 70)
idRelated DiseaseScoreTop Affiliating Genes
1dysgerminoma31.0ALPP, TSPY10, TSPY3, TSPY1, SRY, KIT
2turner syndrome30.7TSPY1, SRY
3frasier syndrome30.5SRY, WT1
4swyer syndrome30.4SRY
5sertoli cell tumor30.2ALPP
6amenorrhea30.1SRY
7denys-drash syndrome30.1WT1
8campomelic dysplasia29.8SRY
9teratoma29.8ALPPL2, ALPP, KIT
10testicular cancer29.8ALPPL2, ALPP
11ovarian gonadoblastoma10.6
12testicular gonadoblastoma10.5
13mixed gonadal dysgenesis10.3
14aniridia10.3
15mixed germ cell tumor10.3
16wilms tumor10.1
17wagr syndrome10.1
18ataxia telangiectasia10.1
19peutz-jeghers syndrome10.1
20n syndrome10.1
21peutz–jeghers syndrome10.1
22precocious puberty10.1
23mental retardation10.1
24ataxia10.1
25short stature10.1
26germ cell tumors10.0KIT
27sertoli-leydig cell tumor10.0WT1
28luteoma10.0SRY
29pseudohermaphroditism10.0SRY, WT1
30germinoma10.0ALPP, KIT
31thymic carcinoma10.0KIT, ALPP
32moebius syndrome10.0FOXL2
33mesoblastic nephroma10.0WT1, KIT
34hypereosinophilic syndrome10.0WT1, KIT
35infertility10.0SRY, FOXL2
36clear cell sarcoma10.0WT1, KIT
37endodermal sinus tumor10.0ALPPL2, ALPP
38gonadal dysgenesis10.0SRY, DMRT3, WT1
39osteitis fibrosa10.0ALPPL2, ALPP
40y chromosome infertility10.0CDY1, RBMY1A1
41sex cord-gonadal stromal tumor10.0WT1, ALPP
42hypophosphatasia10.0ALPP, ALPPL2
43seminoma10.0ALPPL2, ALPP, KIT
44choledocholithiasis10.0ALPP, ALPPL2
45male infertility10.0TSPY1, SRY, RBMY1A1
46hermaphroditism10.0ZFY, SRY
47x-linked ichthyosis10.0VCY, VCY1B
48cryptorchidism10.0WT1, SRY, ALPP, ALPPL2
49refractory anemia10.0WT1, KIT
50embryonal cancer10.0ALPPL2, ALPP, KIT

Graphical network of the top 20 diseases related to Gonadoblastoma:



Diseases related to gonadoblastoma

Clinical Features for Gonadoblastoma

Sources:
47OMIM
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Clinical features from OMIM:

424500

Drugs & Therapeutics for Gonadoblastoma

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Gonadoblastoma

Drug clinical trials:

Search ClinicalTrials for Gonadoblastoma

Search NIH Clinical Center for Gonadoblastoma

Search CenterWatch for Gonadoblastoma

Genetic Tests for Gonadoblastoma

Anatomical Context for Gonadoblastoma

Sources:
33MalaCards
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MalaCards organs/tissues related to Gonadoblastoma:

33
Ovary, Kidney, Breast, Prostate, Testis, T cells, Testis germ

Animal Models for Gonadoblastoma or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Gonadoblastoma:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053899.3ALPP, BCAM, TSPYL2, SRY, KIT, DMRT3

Publications for Gonadoblastoma

Sources:
51PubMed
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Articles related to Gonadoblastoma:

(show top 50)    (show all 236)
idTitleAuthorsYear
1
Ovarian Gonadoblastoma with Dysgerminoma in a Young Girl with 46, XX Karyotype: A Case Report. (24179931)
2013
2
Bilateral ovarian gonadoblastoma with coexisting dysgerminoma in a girl with 46, XX karyotype. (20598061)
2010
3
The chromosome Y-linked testis-specific protein locus TSPY1 is characteristically present in gonadoblastoma. (20656323)
2010
4
Gonadoblastoma locus and the TSPY gene on the human Y chromosome. (19306348)
2009
5
Gonadoblastoma with contralateral dysgerminoma in a young female--a case report. (16933739)
2006
6
Gonadoblastomas in 5 patients with 46,XY gonadal dysgenesis. (15891960)
2005
7
TSPY, the candidate gonadoblastoma gene on the human Y chromosome, has a widely expressed homologue on the X -- implications for Y chromosome evolution. (15241014)
2004
8
Gonadoblastoma in androgen insensitivity syndrome: a case report. (12841671)
2003
9
A case of XY pure gonadal dysgenesis with 46,XYp-/47,XXYp- karyotype whose gonadoblastoma was removed laparoscopically. (11014948)
2000
10
Ovarian gonadoblastoma with mixed germ cell tumor in a woman with 46, XX karyotype and successful pregnancies. (10849320)
2000
11
Gonadoblastoma, testicular and prostate cancers, and the TSPY gene. (10090875)
1999
12
False-positive pregnancy test associated with gonadoblastoma. (10754126)
1999
13
Case of gonadoblastoma in a 9-year-old boy without physical abnormalities. (10226831)
1999
14
Gonadoblastoma: immunohistochemical localization of MA1llerian-inhibiting substance, inhibin, WT-1, and p53. (9388060)
1997
15
Gonadoblastoma in patient with Turner's syndrome. (8624890)
1996
16
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
17
In situ hybridization analysis of the Y chromosome in gonadoblastoma. (7547633)
1995
18
Y chromosome sequences in Turner's syndrome and risk of gonadoblastoma or virilisation. (7904699)
1994
19
Neonatal cystic testicular gonadoblastoma. Sonographic and pathologic findings. (1997687)
1991
20
A case of gonadoblastoma in a normal woman with tubal pregnancy. (2369284)
1990
21
Bilateral gonadoblastoma producing steroid hormones in a patient with 45,X/46,XY gonadal dysgenesis. (1702401)
1990
22
Association of microscopic gonadoblastoma and contralateral ovarian fibroadenoma in patients with gonadal dysgenesis and Turner phenotype. (2265807)
1990
23
46,XY pure gonadal dysgenesis with gonadoblastoma. (2592807)
1989
24
45,X streak gonad syndrome associated with bilateral 'burnt out' gonadoblastoma. (2680804)
1989
25
Dysgerminoma, gonadoblastoma, and testicular germ cell neoplasia in phenotypically female and male siblings with 46 XY genotype. (3802016)
1987
26
Gonadoblastoma: unusual presentation in a patient lacking persistent mA1llerian ducts. (3658844)
1987
27
Gonadoblastoma presenting as isosexual precocious puberty in a genetic female. (3783382)
1986
28
Gonadoblastoma in a patient with an isodicentric X chromosome. (6652946)
1983
29
An uncommon case of gonadoblastoma. (6873095)
1983
30
Gonadoblastoma: structures and background of development. (6614089)
1983
31
Chronic renal disease, myotonic dystrophy, and gonadoblastoma in XY gonadal dysgenesis. (7069752)
1982
32
Mixed germ cell-sex cord stromal tumor. A gonadal tumor distinct from gonadoblastoma. (7223719)
1981
33
Production of testosterone and estrogen in vitro by gonadal tissue from a 46,XY true hermaphrodite with gonadal failure and gonadoblastoma. (7254737)
1981
34
Aniridia, male pseudohermaphroditism, gonadoblastoma, mental retardation, and del 11p13. (6114032)
1981
35
Microscopic gonadoblastoma in dysgenetic gonad of an infant: an ultrastructural study. (7394994)
1980
36
Gonadoblastoma with a 45,XO karyotype. (7443119)
1980
37
46, XY gonadal dysgenesis with secondary amenorrhea, virilization, and bilateral gonadoblastomas. (572994)
1979
38
The paradox of the XY oocyte. Relationship to risk of gonadoblastoma in infant girls. (433847)
1979
39
Cytogenetic and clinical notes on a girl with a 46,X,i(Yq) karyotype, H-Y antigen-negative, and a gonadoblastoma. (569516)
1978
40
Aniridia, cataract and gonadoblastoma in a mentally retarded girl with deletion of chromosome II. A clinicopathological case report. (613291)
1977
41
Gonadoblastoma and dysgerminoma with ataxia-telangiectasia. (990441)
1976
42
A case of gonadoblastoma. (1026051)
1976
43
Dicentric Yp chromosome in a patient with the gonadal dysgenesis and gonadoblastoma. (1150246)
1975
44
45,X/46,XY/47,XYY mosaicism in a phenotypic female with gonadoblastoma. (4469141)
1974
45
Gonadoblastoma occurring in a female with XO-XY fragment gonadal dysgenesis. (5100080)
1971
46
Coexisting Brenner tumor and struma ovarii (mature gonadoblastoma). Report of a case. (5760238)
1968
47
GONADOBLASTOMA IN A PATIENT WITH GONADAL DYSGENESIS. (14321116)
1965
48
XO-XY mosaicism in a phenotypic female with gonadoblastoma. Attempt of classification of the clinical picture of the XO-XY mosaics. (5834534)
1965
49
"MIXED" GONADAL DYSGENESIS WITH GONADOBLASTOMA IN SITU. (14241519)
1964
50
An unusual gonadal tumour (gonadoblastoma) in a male pseudohermaphrodite with testicular dysgenesis. (13837607)
1960

Genetic Variations for Gonadoblastoma

Expression for genes affiliated with Gonadoblastoma

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Gonadoblastoma

Search GEO for disease gene expression data for Gonadoblastoma.

Pathways for genes affiliated with Gonadoblastoma

Sources:
30KEGG
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Pathways related to Gonadoblastoma according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.2ALPPL2, ALPP

Compounds for genes affiliated with Gonadoblastoma

Sources:
45Novoseek, 24HMDB, 11DrugBank
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Compounds related to Gonadoblastoma according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1dmrt4510.4SRY, WT1
27,8-dihydroneopterin45 2411.3ALPPL2, ALPP
3dihydroneopterin triphosphate45 2411.2ALPP, ALPPL2
4dihydroxyacetone45 2411.2ALPP, ALPPL2
5deoxyribonucleic acid4510.1SRY, ZFY, WT1
6vas-a4510.1ALPPL2, KIT
7paraffin459.9ALPPL2, ALPP, KIT, WT1
8levamisole45 1110.9ALPP, ALPPL2

GO Terms for genes affiliated with Gonadoblastoma

Sources:
16Gene Ontology
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Cellular components related to Gonadoblastoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nucleusGO:0056348.1TSPYL2, FOXL2, DMRT3, RBMY1J, RBMY1A1, CDY1B

Biological processes related to Gonadoblastoma according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1sex differentiationGO:00754810.2TSPY1, DMRT3
2positive regulation of male gonad developmentGO:200002010.1WT1, SRY
3gonadal mesoderm developmentGO:00750610.1TSPY10, TSPY3, TSPY1
4male gonad developmentGO:0085849.8SRY, KIT, WT1
5nucleosome assemblyGO:0063349.7TSPYL2, TSPY10, TSPY3, TSPY1
6cell differentiationGO:0301549.6FOXL2, DMRT3, SRY, TSPY1, TSPY3, TSPY10
7spermatogenesisGO:0072839.5RBMY1J, CDY1B, KIT, TSPY1, TSPY3, TSPY10

Molecular functions related to Gonadoblastoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1alkaline phosphatase activityGO:00403510.2ALPPL2, ALPP

Products for genes affiliated with Gonadoblastoma

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Sources for Gonadoblastoma

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet