MCID: GND001
MIFTS: 42

Gonadoblastoma malady

Cancer diseases category

Summaries for Gonadoblastoma

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9Disease Ontology, 66Wikipedia, 48OMIM, 34MalaCards
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Wikipedia:66 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 dysgerminoma. An important gene associated with Gonadoblastoma is TSPY1 (testis specific protein, Y-linked 1). The compounds agarose and dmrt have been mentioned in the context of this disorder. Affiliated tissues include ovary, testis and breast, and related mouse phenotypes are renal/urinary system and muscle.

Disease Ontology:9 A cell type benign neoplasm that is composed of a mixture of gonadal elements.

Description from OMIM:48 424500

Aliases & Classifications for Gonadoblastoma

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9Disease Ontology, 11DISEASES, 46Novoseek, 63UMLS, 36MeSH, 59SNOMED-CT, 48OMIM, 41NCIt
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Cancer diseases


Aliases & Descriptions:

gonadoblastoma 9 11 46 63


External Ids:

Disease Ontology9 DOID:3301
MeSH36 D018238
SNOMED-CT59 74751003
OMIM48 424500
NCIt41 C3754

Related Diseases for Gonadoblastoma

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Sources:
18GeneCards, 19GeneDecks
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Diseases related to Gonadoblastoma via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 65)
idRelated DiseaseScoreTop Affiliating Genes
1gonadal dysgenesis31.2SRY, WT1
2dysgerminoma31.0TSPY1, SRY, KIT, WT1
3turner syndrome30.7TSPY1
4frasier syndrome30.5WT1, SRY
5swyer syndrome30.5SRY
6germ cell tumors30.4KIT
7pseudohermaphroditism30.3SRY, WT1
8wilms tumor30.2SRY, WT1
9cryptorchidism29.9SRY, WT1
10sarcoma29.8KIT, WT1
11ovarian gonadoblastoma10.5
12seminoma10.4
13testicular gonadoblastoma10.3
14aniridia10.3
15hermaphroditism10.3
16mixed gonadal dysgenesis10.2
17sertoli cell tumor10.2
18mental retardation10.2
19ataxia telangiectasia10.1
20amenorrhea10.1
21denys-drash syndrome10.1
22peutz-jeghers syndrome10.1
23wagr syndrome10.1
24breast cancer10.1
25cervicitis10.1
26choriocarcinoma10.1
27prostate cancer10.1
28prostatitis10.1
29precocious puberty10.1
30ataxia10.1
31short stature10.1
32mixed germ cell tumor10.1
33male infertility10.0SRY, TSPY1
34azoospermia10.0TSPY1, SRY
35mesoblastic nephroma10.0KIT, WT1
36hypereosinophilic syndrome10.0KIT, WT1
37clear cell sarcoma10.0WT1, KIT
38acute myeloid leukemia, adult10.0KIT, WT1
39refractory anemia10.0KIT, WT1
40hypospadias10.0SRY, WT1
41leiomyosarcoma10.0WT1, KIT
42peripheral primitive neuroectodermal tumor10.0WT1, KIT
43hematologic cancer10.0WT1, KIT
44myelodysplastic syndromes10.0WT1, KIT
45chronic myeloid leukemia10.0KIT, WT1
46acute leukemia10.0KIT, WT1
47acute lymphocytic leukemia10.0WT1, KIT
48myeloid leukemia9.9KIT, WT1
49cystadenoma9.9
50rete testis adenoma9.9

Graphical network of the top 20 diseases related to Gonadoblastoma:



Diseases related to gonadoblastoma

Symptoms for Gonadoblastoma

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48OMIM
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Clinical features from OMIM:

424500

Drugs & Therapeutics for Gonadoblastoma

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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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34MalaCards
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MalaCards organs/tissues related to Gonadoblastoma:

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

Animal Models for Gonadoblastoma or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Gonadoblastoma:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.4WT1, KIT, BCAM
2MP:00053698.4TSPY1, KIT, WT1
3MP:00053898.0WT1, KIT, BCAM, SRY
4MP:00107688.0WT1, KIT, BCAM, SRY

Publications for Gonadoblastoma

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53PubMed
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Articles related to Gonadoblastoma:

(show top 50)    (show all 234)
idTitleAuthorsYear
1
Ovarian Gonadoblastoma with Dysgerminoma in a Young Girl with 46, XX Karyotype: A Case Report. (24179931)
2013
2
Early presentation of bilateral gonadoblastoma in Turner syndrome. (23337547)
2013
3
Gonadoblastoma: Case report of two young patients with isochromosome 12p found in the dysgerminoma overgrowth component in one case. (22906432)
2012
4
Ovarian gonadoblastoma with dysgerminoma in a 15-year-old girl with 46, XX karyotype: case report and review of the literature. (21879333)
2012
5
FOXL2 and SOX9 distinguish the lineage of the sex cord-stromal cells in gonadoblastomas. (21682576)
2011
6
Testicular gonadoblastoma in two pet domestic rabbits (Oryctolagus cuniculus domesticus). (21908369)
2011
7
Bilateral ovarian gonadoblastoma with coexisting dysgerminoma in a girl with 46, XX karyotype. (20598061)
2010
8
46 XY pure gonadal dysgenesis with gonadoblastoma and dysgerminoma. (19472738)
2008
9
Gonadoblastoma with contralateral dysgerminoma in a young female--a case report. (16933739)
2006
10
Presence of TSPY transcript and absence of transcripts of other Y chromosomal genes in a case of microscopic gonadoblastoma. (16784771)
2006
11
Successful pregnancy in a gonadectomized woman with 46,XY gonadal dysgenesis and gonadoblastoma. (16009184)
2005
12
Identification of germ cells at risk for neoplastic transformation in gonadoblastoma: an immunohistochemical study for OCT3/4 and TSPY. (15948118)
2005
13
Gonadoblastoma in Turner syndrome and Y-chromosome-derived material. (15880570)
2005
14
Gonadoblastoma with unusual mixed germ cell overgrowth--a case report. (16761761)
2005
15
Bilateral gonadoblastomas in a dog with mixed gonadal dysgenesis. (15003485)
2004
16
Seminoma and a gonadoblastoma in an infant with mixed gonadal dysgenesis. (12915842)
2003
17
Gonadoblastoma in androgen insensitivity syndrome: a case report. (12841671)
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
Heterogeneity of gonadoblastoma germ cells: similarities with immature germ cells, spermatogonia and testicular carcinoma in situ cells. (9190360)
1997
21
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
22
XY gonadal dysgenesis and gonadoblastoma: a study in two sisters with a cryptic deletion of the Y chromosome involving the SRY gene. (7814028)
1995
23
The association of ovarian dysgerminoma and gonadoblastoma in a phenotypic female with 46 XY karyotype. (8005142)
1994
24
Gonadoblastoma and dysgerminoma associated with 46,XY pure gonadal dysgenesis--a case report. (8305146)
1993
25
Gonadoblastoma and fertility. (1401220)
1992
26
Successful therapy of metastatic embryonal carcinoma coexisting with gonadoblastoma in a patient with 46,XY pure gonadal dysgenesis (Swyer's syndrome). (2190872)
1990
27
Gonadoblastoma in an anatomically normal man: a case report and literature review. (2231948)
1990
28
46,XY pure gonadal dysgenesis with gonadoblastoma. (2592807)
1989
29
Gonadoblastoma. Immunohistochemical and ultrastructural observations. (2707955)
1989
30
Hypothesis: a Y-chromosomal gene causes gonadoblastoma in dysgenetic gonads. (3503713)
1987
31
Dysgerminoma--gonadoblastoma and familial 46XY pure gonadal dysgenesis: case report and review of the genetics and pathophysiology of gonadal dysgenesis and H-Y antigen. (6959618)
1982
32
A canine testicular tumor resembling gonadoblastoma. (7467079)
1981
33
Mixed germ cell-sex cord stromal tumor. A gonadal tumor distinct from gonadoblastoma. (7223719)
1981
34
Pure gonadal dysgenesis with microscopic ovarian streak and gonadoblastoma. (7243126)
1981
35
Gonadoblastoma and dysgerminoma in a true hermaphrodite with a 46,XX karyotype. (7246672)
1981
36
46, XY gonadal dysgenesis with secondary amenorrhea, virilization, and bilateral gonadoblastomas. (572994)
1979
37
The paradox of the XY oocyte. Relationship to risk of gonadoblastoma in infant girls. (433847)
1979
38
Bilateral gonadoblastoma in a phenotypic female with 45,X/46,X, dicentric iso Y [45,X/46,X,idic(Yq)] mosaicism. (569512)
1978
39
Bilateral gonadoblastoma with chromosomal aberration. (876538)
1977
40
Gonadoblastoma and dysgerminoma with ataxia-telangiectasia. (990441)
1976
41
Gonadoblastoma in a true hermaphrodite with a 46,XX karyotype. (1250564)
1976
42
Ultrastructure of gonadoblastoma. (1167443)
1975
43
45,X/46,XY/47,XYY mosaicism in a phenotypic female with gonadoblastoma. (4469141)
1974
44
Gonadoblastoma associated with embryonal carcinoma. (4808955)
1974
45
Tumors of dysgenetic gonads (gonadoblastoma): ultrastructural and steroidogenic aspects. (4278968)
1974
46
Y ring chromosome associated with gonadoblastoma in situ. (4708485)
1973
47
Bilateral gonadoblastoma with dysgerminoma. A case report. (5057796)
1972
48
Gonadoblastoma and dysgerminoma in two siblings with dysgenetic gonads. (5094323)
1971
49
Gonadoblastoma. A review of 74 cases. (4193741)
1970
50
SIGNIFICANCE OF CHROMOSOMAL INVESTIGATION OF SOMATIC CELLS TO DETERMINE THE GENETIC ORIGIN OF GONADOBLASTOMA: GONOCYTOMA 3. (14185488)
1964

Variations for Gonadoblastoma

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Expression for genes affiliated with Gonadoblastoma

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2BioGPS, 16Gene 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

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Compounds for genes affiliated with Gonadoblastoma

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46Novoseek, 52PharmGKB, 12DrugBank, 25HMDB, 62Tocris Bioscience
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Compounds related to Gonadoblastoma according to GeneCards/GeneDecks:

(show all 11)
idCompoundScoreTop Affiliating Genes
1agarose469.4KIT, SRY
2dmrt469.4WT1, SRY
3deoxyribonucleic acid469.4WT1, SRY
4vincristine46 52 1211.2KIT, WT1
5adenine46 25 1211.2WT1, SRY
6ribonucleic acid469.1WT1, KIT
7imatinib46 52 1210.8WT1, KIT
8testosterone46 62 25 1211.8WT1, KIT, SRY
9steroid468.8SRY, KIT, WT1
10oligonucleotide468.8WT1, KIT, SRY
11cysteine468.5SRY, KIT, WT1

GO Terms for genes affiliated with Gonadoblastoma

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17Gene Ontology
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Cellular components related to Gonadoblastoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1external side of plasma membraneGO:0098979.3KIT, BCAM
2nuclear speckGO:0166078.8WT1, SRY

Biological processes related to Gonadoblastoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sex differentiationGO:0075489.4SRY, TSPY1
2positive regulation of male gonad developmentGO:20000209.1WT1, SRY
3regulation of transcription from RNA polymerase II promoterGO:0063579.1WT1, SRY
4male gonad developmentGO:0085848.8WT1, KIT

Products for genes affiliated with Gonadoblastoma

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Sources for Gonadoblastoma

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet