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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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, Kidney, Testes

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
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
2
Gonadoblastoma: Case report of two young patients with isochromosome 12p found in the dysgerminoma overgrowth component in one case. (22906432)
2012
3
Gonadoblastoma in the ovaries of a lesser galago (Galago senegalensis braccatus). (22520808)
2012
4
Bilateral gonadoblastomas with unilateral dysgerminoma in a case of 46 XY pure gonadal dysgenesis (Swyer syndrome). (20551568)
2010
5
Frasier syndrome: early gonadoblastoma and cyclosporine responsiveness. (20419325)
2010
6
Sertoli cell tumor with benign peritoneal implants associated with gonadoblastoma. (20736766)
2010
7
Gonadoblastoma-associated mixed germ cell tumour in 46,XY complete gonadal dysgenesis (Swyer syndrome): analysis of Y chromosomal genotype and OCT3/4 and TSPY expression profile. (18312345)
2008
8
Gonadoblastoma progressing to dysgerminoma in a 55-year-old woman with normal karyotype. (17454768)
2007
9
A 46,X,inv(Y) young woman with gonadal dysgenesis and gonadoblastoma: cytogenetics, molecular, and methylation studies. (16333824)
2006
10
Detection of hidden Y mosaicism in Turner's syndrome: importance in the prevention of gonadoblastoma. (17128558)
2006
11
Prophylactic bilateral salpingo-oopherectomy in a 17-year-old with Frasier syndrome reveals gonadoblastoma and seminoma: a case report. (17101338)
2006
12
Gonadoblastoma and Turner syndrome. (16600779)
2006
13
Gonadoblastoma. (16697862)
2006
14
Gonadoblastoma with distinctly unusual pattern of yolk sac tumour overgrowth. (12867700)
2003
15
Gonadoblastoma and dysgerminoma associated with XY gonadal dysgenesis in an adolescent with chronic renal failure: a case of Frasier syndrome. (12106750)
2002
16
Short stature as the only presenting feature in a patient with an isodicentric (Y)(q11.23) and gonadoblastoma. A clinical and molecular cytogenetic study. (11277375)
2001
17
Human endogenous retrovirus (HERV)-K transcripts in gonadoblastomas and gonadoblastoma-derived germ cell tumours. (10071229)
1999
18
Mixed gonadal dysgenesis with gonadoblastoma in a female with Y chromosome: case report. (8624888)
1996
19
Minute Y chromosome derived marker in a child with gonadoblastoma: cytogenetic and DNA studies. (1518023)
1992
20
Carcinoma in situ, gonadoblastoma, and early invasive neoplasia in a nine-year-old girl with 46,XY gonadal dysgenesis. (1554492)
1992
21
Bilateral pure gonadoblastoma in a 46 XY individual--a case report. (1840451)
1991
22
Successful therapy of metastatic embryonal carcinoma coexisting with gonadoblastoma in a patient with 46,XY pure gonadal dysgenesis (Swyer's syndrome). (2190872)
1990
23
Gonadoblastoma in an anatomically normal man: a case report and literature review. (2231948)
1990
24
Gonadoblastoma. Immunohistochemical and ultrastructural observations. (2707955)
1989
25
Ambiguous genitalia, gonadoblastoma, aniridia and mental retardation with deletion of chromosome 11. (2810512)
1989
26
Case of a 46XY infant with gonadoblastoma. (3236194)
1988
27
Hypothesis: a Y-chromosomal gene causes gonadoblastoma in dysgenetic gonads. (3503713)
1987
28
Coexistence of a gonadoblastoma and mixed germ cell-sex cord stroma tumor. (4059127)
1985
29
Gonadoblastoma-dysgerminoma in streak ovaries in a 46 XY individual. (6541033)
1984
30
XY gonadal dysgenesis with gonadoblastoma and dysgerminoma. (6484699)
1984
31
A canine testicular tumor resembling gonadoblastoma. (7467079)
1981
32
Gonadoblastoma and dysgerminoma in a true hermaphrodite with a 46,XX karyotype. (7246672)
1981
33
Bilateral gonadoblastoma with chromosomal aberration. (876538)
1977
34
Three sisters with gonadoblastoma. (881710)
1977
35
Ultrastructure of gonadoblastoma and disgerminoma (seminoma) in a patient with XY gonadal dysgenesis. (561649)
1977
36
XY gonadal dysgenesis with gonadoblastoma discovered after kidney transplantation. (331956)
1977
37
Dysgerminomas (seminomas) in genetic males with female phenotype. One case of gonadal dysgenesis and gonadoblastoma and one of testicular feminization. (269634)
1977
38
Gonadoblastoma in a true hermaphrodite with a 46,XX karyotype. (1250564)
1976
39
Gonadoblastoma: ultrastructural evidence for testicular origin. (1260688)
1976
40
Ovarian and peripheral venous steroids in XY gonadal dysgenesis and gonadoblastoma. (129718)
1976
41
Asymmetrical gonadal differentiation and gonadoblastoma. Clinical, cytogenetic and histological findings. Case report. (1242581)
1975
42
Letter: Gonadoblastoma in dysgenetic gonads with a Y chromosome. (48093)
1975
43
Tumors of dysgenetic gonads (gonadoblastoma): ultrastructural and steroidogenic aspects. (4278968)
1974
44
Y ring chromosome associated with gonadoblastoma in situ. (4708485)
1973
45
Gonadoblastoma: distinctive ovarian tumor. (5046802)
1972
46
Gonadoblastoma in a true hermaphrodite with 46, XY genotype. (4672494)
1972
47
Gonadoblastoma and dysgerminoma in two siblings with dysgenetic gonads. (5094323)
1971
48
XY gonadal dysgenesis and gonadoblastoma. Report of a case. (5822673)
1969
49
GONADOBLASTOMA OF THE OVARY. (14285425)
1965
50
GONADOBLASTOMA ASSOCIATED WITH PURE GONADAL DYSGENESIS IN MONOZYGOUS TWINS. (14149008)
1964

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