MCID: GND001
MIFTS: 41

Gonadoblastoma malady

Categories: Reproductive diseases, Rare diseases, Cancer diseases

Aliases & Classifications for Gonadoblastoma

Aliases & Descriptions for Gonadoblastoma:

Name: Gonadoblastoma 54 12 56 29 52 42 14 69

Characteristics:

Orphanet epidemiological data:

56
gonadoblastoma
Age of onset: Adolescent;

HPO:

32
gonadoblastoma:
Inheritance y-linked inheritance


Classifications:



External Ids:

OMIM 54 424500
Disease Ontology 12 DOID:3301
MeSH 42 D018238
NCIt 47 C3754
SNOMED-CT 64 74751003
Orphanet 56 ORPHA206484
ICD10 via Orphanet 34 D39.1
UMLS 69 C0206661

Summaries for Gonadoblastoma

Disease Ontology : 12 A cell type benign neoplasm that is composed_of a mixture of gonadal elements.

MalaCards based summary : Gonadoblastoma is related to choriocarcinoma and ovarian gonadoblastoma, and has symptoms including abdominal pain, ambiguous genitalia and abdominal distention. An important gene associated with Gonadoblastoma is TSPY1 (Testis Specific Protein, Y-Linked 1), and among its related pathways/superpathways is Deactivation of the beta-catenin transactivating complex. Affiliated tissues include ovary, testis and prostate, and related phenotypes are neoplasm and no phenotypic analysis

Wikipedia : 71 A gonadoblastoma is a complex neoplasm composed of a mixture of gonadal elements, such as large... more...

Description from OMIM: 424500

Related Diseases for Gonadoblastoma

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

(show top 50) (show all 75)
id Related Disease Score Top Affiliating Genes
1 choriocarcinoma 29.8 KIT WT1
2 ovarian gonadoblastoma 12.0
3 testicular gonadoblastoma 12.0
4 wagr syndrome 11.4
5 frasier syndrome 11.2
6 gonadal dysgenesis 10.4
7 central nervous system sarcoma 10.2 KIT SRY
8 congenital articular rigidity 10.2 ALPPL2 SRY
9 8p23.1 duplication syndrome 10.1 SOX9 SRY
10 kahrizi syndrome 10.1 KIT WT1
11 liver angiosarcoma 10.1 KIT WT1
12 spermatogenic failure, y-linked, 1 10.1 SOX9 SRY
13 disease_ontology 10.1 SRY WT1
14 hyperandrogenism due to cortisone reductase deficiency 10.1 KIT WT1
15 intraventricular meningioma 10.1 SOX9 SRY
16 diffuse glomerulonephritis 10.1 KIT WT1
17 hormone producing pituitary cancer 10.1 KIT WT1
18 autosomal dominant optic atrophy and late-onset deafness 10.1 SOX9 SRY
19 turner syndrome 10.1
20 small intestinal sarcoma 10.1 KIT WT1
21 splenic disease 10.1 SOX9 SRY
22 hereditary renal cell carcinoma 10.1 ALPPL2 KIT TSPY1
23 alveolar soft-part sarcoma 10.1 SOX9 SRY
24 familial hyperaldosteronism 10.1 KIT WT1
25 pneumonia 10.0 KIT WT1
26 van regemorter pierquin vamos syndrome 10.0 KIT WT1
27 seminoma 10.0
28 farmer's lung 10.0 SOX9 SRY
29 coronary restenosis 10.0 KIT WT1
30 sex differentiation disease 10.0 FOXL2 WT1
31 brucella melitensis brucellosis 9.9 FOXL2 SOX9 SRY
32 deafness, autosomal recessive 51 9.9 SOX9 SRY WT1
33 benign essential hypertension 9.9 SOX9 SRY WT1
34 hermaphroditism 9.9
35 aniridia 9.9
36 cerebral cavernous malformations-2 9.9 SOX9 SRY WT1
37 mediastinum sarcoma 9.9 KIT WT1
38 pseudohermaphroditism 9.9
39 mixed gonadal dysgenesis 9.9
40 prostate cancer 9.8
41 prostatitis 9.8
42 embryonal carcinoma 9.8
43 sertoli cell tumor 9.8
44 ataxia 9.7
45 mixed germ cell tumor 9.7
46 amenorrhea 9.7
47 breast cancer 9.7
48 cervicitis 9.7
49 denys-drash syndrome 9.7
50 ataxia-telangiectasia 9.7

Graphical network of the top 20 diseases related to Gonadoblastoma:



Diseases related to Gonadoblastoma

Symptoms & Phenotypes for Gonadoblastoma

Symptoms by clinical synopsis from OMIM:

424500

Clinical features from OMIM:

424500

Human phenotypes related to Gonadoblastoma:

56 32 (show all 14)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abdominal pain 56 32 Occasional (29-5%) HP:0002027
2 ambiguous genitalia 56 32 Occasional (29-5%) HP:0000062
3 abdominal distention 56 32 Occasional (29-5%) HP:0003270
4 female external genitalia in individual with 46,xy karyotype 56 32 Very frequent (99-80%) HP:0008730
5 gonadal dysgenesis with female appearance, male 56 32 Frequent (79-30%) HP:0008723
6 hirsutism 56 32 Occasional (29-5%) HP:0001007
7 ovarian gonadoblastoma 56 32 Very frequent (99-80%) HP:0000149
8 gonadal calcification 56 32 Frequent (79-30%) HP:0008703
9 dysgerminoma 56 32 Frequent (79-30%) HP:0100621
10 abnormality of metabolism/homeostasis 32 HP:0001939
11 abnormality of the ovary 56 Very frequent (99-80%)
12 gonadoblastoma 32 HP:0000150
13 increased testosterone 56 Occasional (29-5%)
14 increased serum testosterone level 32 HP:0030088

MGI Mouse Phenotypes related to Gonadoblastoma:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 9.46 CAT KIT TSPYL2 WT1
2 no phenotypic analysis MP:0003012 9.35 FOXL2 KIT SOX9 TSPYL2 WT1
3 reproductive system MP:0005389 9.1 ALPPL2 FOXL2 KIT SOX9 TSPYL2 WT1

Drugs & Therapeutics for Gonadoblastoma

Search Clinical Trials , NIH Clinical Center for Gonadoblastoma

Cochrane evidence based reviews: gonadoblastoma

Genetic Tests for Gonadoblastoma

Genetic tests related to Gonadoblastoma:

id Genetic test Affiliating Genes
1 Gonadoblastoma 29

Anatomical Context for Gonadoblastoma

MalaCards organs/tissues related to Gonadoblastoma:

39
Ovary, Testis, Prostate, Breast, Testes, Kidney

Publications for Gonadoblastoma

Articles related to Gonadoblastoma:

(show top 50) (show all 253)
id Title Authors Year
1
Risk of Gonadoblastoma Development in Patients with Turner Syndrome with Cryptic Y Chromosome Material. ( 28349385 )
2017
2
Gonadoblastoma and papillary tubal hyperplasia in ovotesticular syndrome. ( 27087521 )
2016
3
Early Bilateral Gonadoblastoma in a Young Child with Mosaicism for Turner Syndrome and Trisomy 18 with Y Chromosome. ( 27614983 )
2016
4
Swyer's Syndrome with Mixed Ovarian Malignant Germ Cell Tumor and Ovarian Gonadoblastoma. ( 27411466 )
2016
5
Unilateral gonadoblastoma with dysgerminoma in normal fertile woman having a child: Extremely rare occurrence with characteristic immunohistomorphology. ( 27721289 )
2016
6
Gonadoblastoma in patients with 45,X/46,XY mosaicism: A 16-year experience. ( 27052295 )
2016
7
WT1 Deletion Leading to Severe 46,XY Gonadal Dysgenesis, Wilms Tumor and Gonadoblastoma: Case Report. ( 25613702 )
2015
8
Gonadoblastoma in patients with ullrich-turner syndrome. ( 25535833 )
2015
9
Occurrence of Gonadoblastoma in Patients with 45,X/46,XY Mosaicism. ( 26046609 )
2015
10
Gonadoblastoma with Dysgerminoma in a Phenotypically Turner-Like Girl with 45,X/46,XY Karyotype. ( 26777047 )
2015
11
Dysgerminoma on a gonadoblastoma in a patient with Swyer syndrome treated with single incision laparoscopic surgery. ( 24960113 )
2014
12
Analyses of Gonadoblastoma Y (GBY)-locus and of Y Centromere in Turner Syndrome Patients. ( 25314650 )
2014
13
Gonadoblastoma: an immunohistochemical study and comparison to Sertoli cell nodule with intratubular germ cell neoplasia, with pathogenetic implications. ( 24766183 )
2014
14
Gonadoblastoma and selected other aspects of gonadal pathology in young patients with disorders of sex development. ( 25129544 )
2014
15
46,XY female sex reversal syndrome with bilateral gonadoblastoma and dysgerminoma. ( 25187804 )
2014
16
Gonadoblastoma and hepatoid and endometrioid-like yolk sac tumor: an update. ( 24901396 )
2014
17
The Y-located gonadoblastoma gene TSPY amplifies its own expression through a positive feedback loop in prostate cancer cells. ( 24583132 )
2014
18
Early presentation of bilateral gonadoblastoma in Turner syndrome. ( 23337547 )
2013
19
Ovarian Gonadoblastoma with Dysgerminoma in a Young Girl with 46, XX Karyotype: A Case Report. ( 24179931 )
2013
20
Expression of SALL4 and SF-1 in gonadoblastoma: useful markers in the identification of the invasive germ cell component. ( 23722510 )
2013
21
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
22
Early presentation of bilateral gonadoblastomas in a Denys-Drash syndrome patient: a cautionary tale for prophylactic gonadectomy. ( 23729537 )
2013
23
Gonadoblastoma in the ovaries of a lesser galago (Galago senegalensis braccatus). ( 22520808 )
2012
24
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
25
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
26
Prevalence of c-KIT mutations in gonadoblastoma and dysgerminomas of patients with disorders of sex development (DSD) and ovarian dysgerminomas. ( 22937135 )
2012
27
A 46,XY female DSD patient with bilateral gonadoblastoma, a novel SRY missense mutation combined with a WT1 KTS splice-site mutation. ( 22815844 )
2012
28
Ovarian gonadoblastoma with dysgerminoma in a 15-year-old girl with 46, XX karyotype: case report and review of the literature. ( 21879333 )
2012
29
Gonadoblastoma: Case report of two young patients with isochromosome 12p found in the dysgerminoma overgrowth component in one case. ( 22906432 )
2012
30
Ovarian gonadoblastoma with dysgerminoma in a woman with 46XX karyotype. ( 21355962 )
2011
31
Denys-Drash syndrome and gonadoblastoma in a patient with Klinefelter syndrome. ( 21552011 )
2011
32
FOXL2 and SOX9 distinguish the lineage of the sex cord-stromal cells in gonadoblastomas. ( 21682576 )
2011
33
Coexistence of gonadoblastoma and dysgerminoma in a dysgenetic gonad on touch preparation: a case report. ( 21162092 )
2011
34
Role of the Y-located putative gonadoblastoma gene in human spermatogenesis. ( 21204751 )
2011
35
Testicular gonadoblastoma in two pet domestic rabbits (Oryctolagus cuniculus domesticus). ( 21908369 )
2011
36
Coexistence of a choriocarcinoma and a gonadoblastoma in the gonad of a 46,XY female: a single nucleotide polymorphism array analysis. ( 19425818 )
2010
37
Sertoli cell tumor with benign peritoneal implants associated with gonadoblastoma. ( 20736766 )
2010
38
Frasier syndrome: early gonadoblastoma and cyclosporine responsiveness. ( 20419325 )
2010
39
Bilateral ovarian gonadoblastoma with coexisting dysgerminoma in a girl with 46, XX karyotype. ( 20598061 )
2010
40
Bilateral gonadoblastomas with unilateral dysgerminoma in a case of 46 XY pure gonadal dysgenesis (Swyer syndrome). ( 20551568 )
2010
41
Left ovarian gonadoblastoma with yolk sac tumor in a young woman. ( 20551554 )
2010
42
Gonadoblastoma: an unusual ovarian tumor. ( 20637428 )
2010
43
The chromosome Y-linked testis-specific protein locus TSPY1 is characteristically present in gonadoblastoma. ( 20656323 )
2010
44
Bilateral gonadoblastoma with dysgerminoma and pilocytic astrocytoma with WT1 GT-IVS9 mutation: A 46 XY phenotypic female with Frasier syndrome. ( 19653292 )
2009
45
A clinical and molecular project on gonadoblastoma needs international collaboration. ( 21139936 )
2009
46
SRY gene increases the risk of developing gonadoblastoma and/or nontumoral gonadal lesions in Turner syndrome. ( 19188812 )
2009
47
Gonadoblastoma locus and the TSPY gene on the human Y chromosome. ( 19306348 )
2009
48
A novel SRY missense mutation affecting nuclear import in a 46,XY female patient with bilateral gonadoblastoma. ( 19513096 )
2009
49
Bilateral gonadoblastomas with a left sided dysgerminoma in a true hermaphrodite (disorder of sexual differentiation) with 46, XY karyotype. ( 18846912 )
2008
50
46 XY pure gonadal dysgenesis with gonadoblastoma and dysgerminoma. ( 19472738 )
2008

Variations for Gonadoblastoma

Expression for Gonadoblastoma

Search GEO for disease gene expression data for Gonadoblastoma.

Pathways for Gonadoblastoma

Pathways related to Gonadoblastoma according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 10.26 SOX9 SRY

GO Terms for Gonadoblastoma

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

(show all 14)
id Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 9.83 FOXL2 SOX9 SRY TSPY1
2 positive regulation of transcription, DNA-templated GO:0045893 9.73 FOXL2 SOX9 SRY WT1
3 regulation of transcription from RNA polymerase II promoter GO:0006357 9.67 KIT SOX9 SRY WT1
4 somatic stem cell population maintenance GO:0035019 9.54 KIT SOX9
5 ureteric bud development GO:0001657 9.51 CAT WT1
6 ovarian follicle development GO:0001541 9.49 FOXL2 KIT
7 branching involved in ureteric bud morphogenesis GO:0001658 9.48 SOX9 WT1
8 response to radiation GO:0009314 9.46 CAT KIT
9 nucleosome assembly GO:0006334 9.43 SOX9 TSPY1 TSPYL2
10 sex differentiation GO:0007548 9.4 SRY TSPY1
11 male gonad development GO:0008584 9.33 KIT SOX9 WT1
12 male sex determination GO:0030238 9.32 SOX9 SRY
13 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.13 CAT KIT SOX9
14 positive regulation of male gonad development GO:2000020 8.8 SOX9 SRY WT1

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

id Name GO ID Score Top Affiliating Genes
1 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 8.96 SOX9 SRY
2 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding GO:0001077 8.8 FOXL2 SOX9 WT1

Sources for Gonadoblastoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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