MCID: GND001
MIFTS: 41

Gonadoblastoma malady

Summaries for Gonadoblastoma

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8Disease Ontology, 63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 A gonadoblastoma is a complex neoplasm composed of a mixture of gonadal elements, such as large... more...

MalaCards: Gonadoblastoma is related to gonadal dysgenesis and seminoma. 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, testis 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:46 424500

Aliases & Classifications for Gonadoblastoma

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8Disease Ontology, 10DISEASES, 44Novoseek, 60UMLS, 39NCIt, 34MeSH, 46OMIM, 56SNOMED-CT
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Aliases & Descriptions:

gonadoblastoma 8 10 44 60


External Ids:

Disease Ontology8 DOID:3301
NCIt39 C3754
SNOMED-CT56 74751003
MeSH34 D018238
OMIM46 424500

Related Diseases for Gonadoblastoma

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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 72)
idRelated DiseaseScoreTop Affiliating Genes
1gonadal dysgenesis31.1SRY, DMRT3, WT1
2seminoma30.5ALPPL2, ALPP, KIT
3turner syndrome30.5TSPY1, SRY
4frasier syndrome30.4SRY, WT1
5hermaphroditism30.3ZFY, SRY
6pseudohermaphroditism30.2SRY, WT1
7sertoli cell tumor30.2ALPP
8amenorrhea30.0SRY
9denys-drash syndrome30.0WT1
10campomelic dysplasia29.8SRY
11cryptorchidism29.8WT1, SRY, ALPP, ALPPL2
12testicular cancer29.8ALPPL2, ALPP
13ovarian gonadoblastoma10.6
14testicular gonadoblastoma10.5
15aniridia10.2
1646 xy gonadal dysgenesis10.2
17mixed gonadal dysgenesis10.2
18in situ carcinoma10.1
19wagr syndrome10.0
20ataxia telangiectasia10.0
21peutz-jeghers syndrome10.0
22breast cancer10.0
23cervical cancer10.0
24cervicitis10.0
25choriocarcinoma10.0
26ovarian cancer10.0
27prostate cancer10.0
28prostatitis10.0
29germ cell tumors10.0KIT
30sertoli-leydig cell tumor10.0WT1
31luteoma10.0SRY
32swyer syndrome10.0SRY
33germinoma10.0ALPP, KIT
34thymus cancer10.0KIT, ALPP
35moebius syndrome10.0FOXL2
36mesoblastic nephroma10.0WT1, KIT
37hypereosinophilic syndrome10.0WT1, KIT
38infertility10.0SRY, FOXL2
39clear cell sarcoma10.0WT1, KIT
40endodermal sinus tumor10.0ALPPL2, ALPP
41osteitis fibrosa10.0ALPPL2, ALPP
42y chromosome infertility10.0CDY1, RBMY1A1
43sex cord-gonadal stromal tumor10.0WT1, ALPP
44hypophosphatasia10.0ALPP, ALPPL2
45choledocholithiasis10.0ALPP, ALPPL2
46male infertility10.0TSPY1, SRY, RBMY1A1
47x-linked ichthyosis10.0VCY, VCY1B
48teratoma10.0ALPPL2, ALPP, KIT
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

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46OMIM
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Clinical features from OMIM:

424500

Drugs & Therapeutics for Gonadoblastoma

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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

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Anatomical Context for Gonadoblastoma

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32MalaCards
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MalaCards organs/tissues related to Gonadoblastoma:

32
Ovary, Testis, Breast, Prostate, Testes, Kidney

Animal Models for Gonadoblastoma or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Gonadoblastoma:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053899.3ALPP, BCAM, TSPYL2, SRY, KIT, DMRT3

Publications for Gonadoblastoma

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50PubMed
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Articles related to Gonadoblastoma:

(show top 50)    (show all 236)
idTitleAuthorsYear
1
Early presentation of bilateral gonadoblastoma in Turner syndrome. (23337547)
2013
2
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
3
Role of the Y-located putative gonadoblastoma gene in human spermatogenesis. (21204751)
2011
4
Bilateral ovarian gonadoblastoma with coexisting dysgerminoma in a girl with 46, XX karyotype. (20598061)
2010
5
Coexistence of a choriocarcinoma and a gonadoblastoma in the gonad of a 46,XY female: a single nucleotide polymorphism array analysis. (19425818)
2010
6
Bilateral gonadoblastoma with dysgerminoma and pilocytic astrocytoma with WT1 GT-IVS9 mutation: A 46 XY phenotypic female with Frasier syndrome. (19653292)
2009
7
Bilateral gonadoblastomas with a left sided dysgerminoma in a true hermaphrodite (disorder of sexual differentiation) with 46, XY karyotype. (18846912)
2008
8
Gonadoblastoma arising in undifferentiated gonadal tissue within dysgenetic gonads. (16608895)
2006
9
Frasier syndrome in a pre-menarchal girl: laparoscopic resection of gonadoblastoma. (16915373)
2006
10
Identification of germ cells at risk for neoplastic transformation in gonadoblastoma: an immunohistochemical study for OCT3/4 and TSPY. (15948118)
2005
11
Gonadoblastoma in Turner syndrome and Y-chromosome-derived material. (15880570)
2005
12
Bilateral gonadoblastoma with extended calcification: case report of a tumor developing on dysgenetic gonads. (15991539)
2005
13
Distribution of Y-chromosome-bearing cells in gonadoblastoma and dysgenetic testis in 45,X/46,XY infants. (15475933)
2005
14
Bilateral gonadoblastomas in a dog with mixed gonadal dysgenesis. (15003485)
2004
15
Seminoma and a gonadoblastoma in an infant with mixed gonadal dysgenesis. (12915842)
2003
16
Genome profiles of bilateral dysgerminomas, a unilateral gonadoblastoma, and a metastasis from a 46, XY phenotypic female. (14562293)
2003
17
Gonadoblastoma in a patient with del(9)(p22) and sex reversal: report of a case and review of the literature. (12781454)
2003
18
Expression pattern of a gonadoblastoma candidate gene suggests a role of the Y chromosome in prostate cancer. (14684991)
2003
19
Occurrence of gonadoblastoma in females with Turner syndrome and Y chromosome material: a population study. (10999808)
2000
20
Gonadoblastoma with proliferation resembling Sertoli cell tumor. (9891249)
1999
21
Kaposi sarcoma and gonadoblastoma dysgerminoma with gonadal dysgenesis following cadaveric renal transplantation. (9269668)
1997
22
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
23
Gonadoblastoma with coexistent features of mixed germ cell-sex cord stroma tumor: a case report. (7571033)
1995
24
Gonadoblastoma and dysgerminoma associated with 46,XY pure gonadal dysgenesis--a case report. (8305146)
1993
25
Bilateral gonadoblastoma in a 9-month-old infant with 46,XY gonadal dysgenesis. (8514986)
1993
26
Laparoscopic removal of dysgenetic gonads containing a gonadoblastoma in a patient with Swyer syndrome. (1533025)
1992
27
Ovarian gonadoblastoma with dysgerminoma in a woman with two normal children. (2744756)
1989
28
Gonadal dysgenesis and gonadoblastoma in situ in a female with Fraser (cryptophthalmos) syndrome. (3086530)
1986
29
Associated gonadoblastoma and seminoma in a patient with mA1llerian duct derivatives. (6469549)
1984
30
Coexisting rete testis adenoma and gonadoblastoma. (7062394)
1982
31
Gonadoblastoma in a patient with gonadal dysgenesis without a Y chromosome. (7078871)
1982
32
Bilateral gonadoblastoma/dysgerminoma in a 46 XY individual: case report with hormonal studies. (7076870)
1982
33
Pure gonadal dysgenesis with microscopic ovarian streak and gonadoblastoma. (7243126)
1981
34
Production of testosterone and estrogen in vitro by gonadal tissue from a 46,XY true hermaphrodite with gonadal failure and gonadoblastoma. (7254737)
1981
35
Gonadoblastoma in dysgenetic testis causing male pseudohermaphroditism in newborn. (7245450)
1981
36
Microscopic gonadoblastoma in dysgenetic gonad of an infant: an ultrastructural study. (7394994)
1980
37
Y-autosome translocation, gonadal dysgenesis, and gonadoblastoma. (570803)
1979
38
Gonadoblastoma: histologic, ultrastructural, and histochemical observations in five cases. (988750)
1976
39
Feminization in gonadal dysgenesis associated with ovarian gonadoblastoma. (1153143)
1975
40
45,X/46,XY/47,XYY mosaicism in a phenotypic female with gonadoblastoma. (4469141)
1974
41
Gonadoblastoma associated with embryonal carcinoma. (4808955)
1974
42
Remarks on the morphology of gonadoblastoma. (4854098)
1974
43
A phenotypically Turner-like female with karyotype 45,X/46,XY, gonadoblastoma and fluorescent Y. (4442874)
1974
44
Gonadoblastoma associated with mixed gonadal dysgenesis. (4673966)
1972
45
Precocious puberty with masculinization due to terato-chorio-gonadoblastoma. (4328962)
1971
46
Gonadoblastoma. A review of 74 cases. (4193741)
1970
47
Gonadoblastoma in male pseudohermaphroditism. (5393329)
1969
48
Gonadoblastoma (gonocytoma 3). Report of a case. (6017945)
1967
49
Disturbed gonadal differentiation in a child with X0-XY-XYY mosaicism: relationship with gonadoblastoma. (5595751)
1967
50
Dysgerminoma and gonadoblastoma. (5910442)
1966

Genetic Variations for Gonadoblastoma

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Expression for genes affiliated with Gonadoblastoma

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

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Pathways for genes affiliated with Gonadoblastoma

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29KEGG
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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

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44Novoseek, 24HMDB, 11DrugBank
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Compounds related to Gonadoblastoma according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1dmrt4410.4SRY, WT1
27,8-dihydroneopterin44 2411.3ALPPL2, ALPP
3dihydroneopterin triphosphate44 2411.2ALPP, ALPPL2
4dihydroxyacetone44 2411.2ALPP, ALPPL2
5deoxyribonucleic acid4410.1SRY, ZFY, WT1
6vas-a4410.1ALPPL2, KIT
7paraffin449.9ALPPL2, ALPP, KIT, WT1
8levamisole44 1110.9ALPP, ALPPL2

GO Terms for genes affiliated with Gonadoblastoma

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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

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet