Aliases & Classifications for Gonadoblastoma

About this section
Sources:
10Disease Ontology, 47Novoseek, 12DISEASES, 65UMLS, 36MeSH, 42NCIt, 59SNOMED-CT
See all sources

Aliases & Descriptions for Gonadoblastoma:

Name: Gonadoblastoma 10 47 12 65 36


Classifications:



External Ids:

Disease Ontology10 DOID:3301
NCIt42 C3754
SNOMED-CT59 74751003
MeSH36 D018238

Summaries for Gonadoblastoma

About this section
Wikipedia:68 A gonadoblastoma is a complex neoplasm composed of a mixture of gonadal elements, such as large... more...

MalaCards based summary: Gonadoblastoma is related to frasier syndrome and gonadal dysgenesis, and has symptoms including gonadoblastoma, y-linked inheritance and abnormality of metabolism/homeostasis. An important gene associated with Gonadoblastoma is TSPY1 (Testis Specific Protein, Y-Linked 1), and among its related pathways are Deactivation of the beta-catenin transactivating complex and Folate biosynthesis. Affiliated tissues include ovary, testis and prostate, and related mouse phenotypes are endocrine/exocrine gland and reproductive system.

Disease Ontology:10 A cell type benign neoplasm that is composed of a mixture of gonadal elements.

Related Diseases for Gonadoblastoma

About this section

Diseases related to Gonadoblastoma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 143)
idRelated DiseaseScoreTop Affiliating Genes
1frasier syndrome30.4SOX9, SRY, WT1
2gonadal dysgenesis10.8
3ovarian gonadoblastoma10.6
4turner syndrome10.5
5seminoma10.4
6testicular gonadoblastoma10.4
7aniridia10.3
8hermaphroditism10.3
9swyer syndrome10.3
10mixed gonadal dysgenesis10.3
11pseudohermaphroditism10.3
12prostate cancer10.2
13denys-drash syndrome10.2
14sertoli cell tumor10.2
15prostatitis10.2
16complete atrioventricular canal10.2ALPPL2, SRY
17submucous uterine fibroid10.2ALPP, ALPPL2
18gonadoblastoma10.2ALPP, ALPPL2
19kidney fibrosarcoma10.2ALPP, ALPPL2
20cerebellopontine angle primitive neuroectodermal10.2ALPP, ALPPL2
21somatoform disorder10.2ALPP, ALPPL2
22stickler syndrome10.2ALPP, ALPPL2
23thelaziasis10.2ALPP, ALPPL2
24craniodiaphyseal dysplasia10.2ALPP, ALPPL2
25malignant glandular tumor of peripheral nerve sheath10.2ALPP, ALPPL2
26fibrosarcomatous osteosarcoma10.2ALPP, ALPPL2
27colorectal adenocarcinoma10.2ALPP, ALPPL2
28fallopian tube mucinous adenocarcinoma10.2ALPP, ALPPL2
29esophageal varix10.2ALPP, ALPPL2
30fascioliasis10.2ALPP, ALPPL2
31esophagus leiomyoma10.2ALPP, ALPPL2
32factor viii deficiency10.2ALPP, ALPPL2
33multiple spinal canal and spinal cord meningioma10.2ALPP, ALPPL2
34pyeloureteritis cystica10.2ALPP, ALPPL2
35nodular neuronal heterotopia10.2SOX9, SRY
36invasive malignant thymoma10.2ALPP, ALPPL2
37central nervous system hereditary degenerative disease10.2ALPP, ALPPL2
38lujo hemorrhagic fever10.2ALPP, ALPPL2
39diamond-blackfan anemia 410.2ALPP, ALPPL2
40alzheimer disease-210.2ALPP, ALPPL2
41tabes dorsalis10.2ALPP, ALPPL2
42central nervous system germinoma10.2ALPP, ALPPL2
43communicating hydrocephalus10.2ALPP, ALPPL2
44childhood kidney angiomyolipoma10.2ALPP, ALPPL2
45cutaneous mucoepidermoid carcinoma10.2ALPP, ALPPL2
46leber congenital amaurosis 310.2ALPP, ALPPL2
47liver leiomyoma10.2ALPP, ALPPL2
48diaphragm disease10.2ALPP, ALPPL2
4948,xxxy syndrome10.2SOX9, SRY
50myofascial pain syndrome10.2ALPP, ALPPL2

Graphical network of the top 20 diseases related to Gonadoblastoma:



Diseases related to gonadoblastoma

Symptoms for Gonadoblastoma

About this section

HPO human phenotypes related to Gonadoblastoma:

id Description Frequency HPO Source Accession
1 gonadoblastoma HP:0000150
2 y-linked inheritance HP:0001450
3 abnormality of metabolism/homeostasis HP:0001939

Drugs & Therapeutics for Gonadoblastoma

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Gonadoblastoma


Cochrane evidence based reviews: Gonadoblastoma

Genetic Tests for Gonadoblastoma

About this section

Anatomical Context for Gonadoblastoma

About this section

MalaCards organs/tissues related to Gonadoblastoma:

33
Ovary, Testis, Prostate, Breast, Testes, Kidney

Animal Models for Gonadoblastoma or affiliated genes

About this section

MGI Mouse Phenotypes related to Gonadoblastoma:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053798.4FOXL2, KIT, SOX9, SRY, WT1
2MP:00053897.2ALPP, FOXL2, KIT, SOX9, SRY, WT1

Publications for Gonadoblastoma

About this section

Articles related to Gonadoblastoma:

(show top 50)    (show all 243)
idTitleAuthorsYear
1
Occurrence of Gonadoblastoma in Patients with 45,X/46,XY Mosaicism. (26046609)
2015
2
WT1 Deletion Leading to Severe 46,XY Gonadal Dysgenesis, Wilms Tumor and Gonadoblastoma: Case Report. (25613702)
2015
3
Gonadoblastoma and selected other aspects of gonadal pathology in young patients with disorders of sex development. (25129544)
2014
4
Ovarian Gonadoblastoma with Dysgerminoma in a Young Girl with 46, XX Karyotype: A Case Report. (24179931)
2013
5
Early presentation of bilateral gonadoblastoma in Turner syndrome. (23337547)
2013
6
Gonadoblastoma: Case report of two young patients with isochromosome 12p found in the dysgerminoma overgrowth component in one case. (22906432)
2012
7
FOXL2 and SOX9 distinguish the lineage of the sex cord-stromal cells in gonadoblastomas. (21682576)
2011
8
Testicular gonadoblastoma in two pet domestic rabbits (Oryctolagus cuniculus domesticus). (21908369)
2011
9
Bilateral ovarian gonadoblastoma with coexisting dysgerminoma in a girl with 46, XX karyotype. (20598061)
2010
10
46 XY pure gonadal dysgenesis with gonadoblastoma and dysgerminoma. (19472738)
2008
11
Gonadoblastoma with contralateral dysgerminoma in a young female--a case report. (16933739)
2006
12
Presence of TSPY transcript and absence of transcripts of other Y chromosomal genes in a case of microscopic gonadoblastoma. (16784771)
2006
13
Successful pregnancy in a gonadectomized woman with 46,XY gonadal dysgenesis and gonadoblastoma. (16009184)
2005
14
Identification of germ cells at risk for neoplastic transformation in gonadoblastoma: an immunohistochemical study for OCT3/4 and TSPY. (15948118)
2005
15
Gonadoblastoma in Turner syndrome and Y-chromosome-derived material. (15880570)
2005
16
Bilateral gonadoblastomas in a dog with mixed gonadal dysgenesis. (15003485)
2004
17
Seminoma and a gonadoblastoma in an infant with mixed gonadal dysgenesis. (12915842)
2003
18
Gonadoblastoma in androgen insensitivity syndrome: a case report. (12841671)
2003
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

About this section

Expression for genes affiliated with Gonadoblastoma

About this section
Search GEO for disease gene expression data for Gonadoblastoma.

Pathways for genes affiliated with Gonadoblastoma

About this section

Pathways related to Gonadoblastoma according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6SOX9, SRY
29.0ALPP, ALPPL2

GO Terms for genes affiliated with Gonadoblastoma

About this section

Cellular components related to Gonadoblastoma according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1nuclear transcription factor complexGO:00447989.6SOX9, SRY

Biological processes related to Gonadoblastoma according to GeneCards Suite gene sharing:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1sex determinationGO:000753010.4SRY, WT1
2positive regulation of phosphatidylinositol 3-kinase signalingGO:001406810.0KIT, SOX9
3branching involved in ureteric bud morphogenesisGO:000165810.0SOX9, WT1
4ovarian follicle developmentGO:000154110.0FOXL2, KIT
5male sex determinationGO:00302389.5SOX9, SRY
6Sertoli cell developmentGO:00600099.2SOX9, WT1
7positive regulation of male gonad developmentGO:20000209.2SOX9, SRY, WT1
8cell differentiationGO:00301549.2FOXL2, SOX9, SRY, TSPY1
9positive regulation of transcription, DNA-templatedGO:00458939.0FOXL2, SOX9, SRY, WT1
10spermatogenesisGO:00072838.9KIT, SOX9, TSPY1, WT1
11negative regulation of transcription from RNA polymerase II promoterGO:00001228.9FOXL2, SOX9, SRY, WT1
12male gonad developmentGO:00085848.8KIT, SOX9, SRY, WT1

Molecular functions related to Gonadoblastoma according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II transcription factor activity, sequence-specific DNA bindingGO:00009819.3FOXL2, SOX9, SRY
2alkaline phosphatase activityGO:00040359.0ALPP, ALPPL2
3transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:00010778.8FOXL2, SOX9, WT1

Sources for Gonadoblastoma

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet