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


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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
Ovarian gonadoblastoma with dysgerminoma in a 15-year-old girl with 46, XX karyotype: case report and review of the literature. (21879333)
2012
2
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
3
Prevalence of c-KIT mutations in gonadoblastoma and dysgerminomas of patients with disorders of sex development (DSD) and ovarian dysgerminomas. (22937135)
2012
4
Testicular gonadoblastoma in two pet domestic rabbits (Oryctolagus cuniculus domesticus). (21908369)
2011
5
The chromosome Y-linked testis-specific protein locus TSPY1 is characteristically present in gonadoblastoma. (20656323)
2010
6
A clinical and molecular project on gonadoblastoma needs international collaboration. (21139936)
2009
7
SRY gene increases the risk of developing gonadoblastoma and/or nontumoral gonadal lesions in Turner syndrome. (19188812)
2009
8
46 XY pure gonadal dysgenesis with gonadoblastoma and dysgerminoma. (19472738)
2008
9
Gonadoblastoma progressing to dysgerminoma in a 55-year-old woman with normal karyotype: follow-up studies. (18752139)
2008
10
Y chromosome mosaicism and occurrence of gonadoblastoma in cases of Turner syndrome and amenorrhoea. (18028746)
2007
11
Polycystic ovary and gonadoblastoma in Turner's syndrome. (17947845)
2007
12
Testis-specific protein Y-encoded gene is expressed in early and late stages of gonadoblastoma and testicular carcinoma in situ. (17349529)
2007
13
Successful pregnancy in a gonadectomized woman with 46,XY gonadal dysgenesis and gonadoblastoma. (16009184)
2005
14
Gonadoblastoma with unusual mixed germ cell overgrowth--a case report. (16761761)
2005
15
Gonadoblastoma: evidence for a stepwise progression to dysgerminoma in a dysgenetic ovary. (15968543)
2005
16
Peutz-Jeghers syndrome combined with breast cancer, cervical carcinoma and ovarian gonadoblastoma: a case report. (17415855)
2004
17
Y chromosome sequences in Turner's syndrome: association with virilization and gonadoblastoma. (14594176)
2003
18
Molecular breakpoint analysis and relevance of variable mosaicism in a woman with short stature, primary amenorrhea, unilateral gonadoblastoma, and a 46,X,del(Y)(q11)/45,X karyotype. (12239720)
2002
19
A case of XY pure gonadal dysgenesis with 46,XYp-/47,XXYp- karyotype whose gonadoblastoma was removed laparoscopically. (11014948)
2000
20
Risk of gonadoblastoma in female patients with Y chromosome abnormalities and dysgenetic gonads. (10365364)
1999
21
Gonadoblastoma, mixed germ cell tumor, and Y chromosomal genotype: molecular analysis in four patients. (10221338)
1999
22
Heterogeneity of gonadoblastoma germ cells: similarities with immature germ cells, spermatogonia and testicular carcinoma in situ cells. (9190360)
1997
23
Prepubertal gonadoblastoma in a 46,XY female patient with features of Turner syndrome. (8839718)
1996
24
Gonadoblastoma: molecular definition of the susceptibility region on the Y chromosome. (8533770)
1995
25
Unique combination of an ovarian gonadoblastoma, dysgerminoma, and mucinous cystadenoma in a patient with Turner's syndrome: a cytogenetic and molecular analysis. (7928059)
1994
26
Gonadoblastoma and fertility. (1401220)
1992
27
46,XY pure gonadal dysgenesis with gonadoblastoma. (2592807)
1989
28
Familial 46,XY pure gonadal dysgenesis and gonadoblastoma/dysgerminoma: case report. (2910791)
1989
29
Unilateral microscopic gonadoblastoma in a prepubertal Turner mosaic with Y chromosome material identified by restriction fragment analysis. (3177277)
1988
30
Ectopic prolactin secretion from a gonadoblastoma. (3677004)
1987
31
Gonadoblastomas in 46,XY gonadal dysgenesis: the significance of intra-abdominal exploration during appendectomy. (3947873)
1986
32
Chronic renal disease, myotonic dystrophy, and gonadoblastoma in XY gonadal dysgenesis. (7069752)
1982
33
Unilateral gonadoblastoma with dysgerminoma in a normal fertile woman--review and report of a case. (7309115)
1981
34
Long arm deletion of the X chromosome, 46,X,del(xX)(q21), associated with gonadoblastoma. (7345190)
1981
35
Gonadoblastoma with a 45,XO karyotype. (7443119)
1980
36
46, XY gonadal dysgenesis with secondary amenorrhea, virilization, and bilateral gonadoblastomas. (572994)
1979
37
Bilateral gonadoblastoma in a phenotypic female with 45,X/46,X, dicentric iso Y [45,X/46,X,idic(Yq)] mosaicism. (569512)
1978
38
A clinico-pathological study of gonadoblastoma. (843500)
1977
39
Childhood gonadoblastoma and seminoma in a dysgenetic cryptorchid gonad. (16143)
1977
40
A case of bilateral gonadoblastoma in streak gonads. (876537)
1977
41
A cytogenetic study of gonadoblastoma tissue in two cases. (1180058)
1975
42
Gonadoblastoma associated with embryonal carcinoma in an anatomically normal man. (1117504)
1975
43
The ultrastructure of gonadoblastoma and dysgerminoma. (4129074)
1974
44
XO-XY gonadal dysgenesis and gonadoblastoma in childhood. (4696971)
1973
45
An electron-microscope study of a dysgenetic gonad containing a focus of apparent gonadoblastoma. (4744075)
1973
46
Bilateral gonadoblastoma with dysgerminoma. A case report. (5057796)
1972
47
A distinctive gonadal neoplasm related to gonadoblastoma. (4673362)
1972
48
Unilateral gonadoblastoma in a pregnant woman. (5360258)
1969
49
Gonadoblastoma (gonocytoma 3) with XO-XX-XY mosaicism. (5658490)
1968
50
SIGNIFICANCE OF CHROMOSOMAL INVESTIGATION OF SOMATIC CELLS TO DETERMINE THE GENETIC ORIGIN OF GONADOBLASTOMA: GONOCYTOMA 3. (14185488)
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