MCID: GND001
MIFTS: 43

Gonadoblastoma

Categories: Reproductive diseases, Cancer diseases, Rare diseases

Aliases & Classifications for Gonadoblastoma

MalaCards integrated aliases for Gonadoblastoma:

Name: Gonadoblastoma 53 12 55 28 51 41 14 69
Gby 53

Characteristics:

Orphanet epidemiological data:

55
gonadoblastoma
Age of onset: Adolescent;

OMIM:

53
Inheritance:
y-linked (pericentromeric vs. yq)


HPO:

31
gonadoblastoma:
Inheritance y-linked inheritance


Classifications:



External Ids:

OMIM 53 424500
Disease Ontology 12 DOID:3301
MeSH 41 D018238
NCIt 46 C3754
SNOMED-CT 64 74751003
Orphanet 55 ORPHA206484
ICD10 via Orphanet 33 D39.1
MedGen 39 C0206661
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, also known as gby, is related to testicular gonadoblastoma and frasier syndrome, 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 no phenotypic analysis and reproductive system

Wikipedia : 72 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 80)
# Related Disease Score Top Affiliating Genes
1 testicular gonadoblastoma 33.3 KIT WT1
2 frasier syndrome 31.8 SOX9 SRY WT1
3 hermaphroditism 30.4 SOX9 SRY
4 seminoma 30.2 ALPPL2 KIT TSPY1
5 46 xy gonadal dysgenesis 30.1 SOX9 SRY WT1
6 mixed gonadal dysgenesis 29.9 FOXL2 SOX9 SRY
7 gonadal dysgenesis 29.9 FOXL2 SOX9 SRY TSPY1 WT1
8 campomelic dysplasia 29.8 SOX9 SRY
9 cryptorchidism, unilateral or bilateral 29.5 ALPPL2 SRY WT1
10 aniridia 1 29.1 CAT WT1
11 ovarian gonadoblastoma 12.2
12 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 11.5
13 complete androgen insensitivity syndrome 10.3 ALPPL2 SRY
14 46,xx sex reversal 1 10.3 SOX9 SRY
15 testicular disease 10.2 SOX9 SRY
16 turner syndrome 10.2
17 partial deletion of y 10.2 RBMY1A1 TSPY1
18 46,xy sex reversal 1 10.1
19 brain germinoma 10.1 KIT SRY
20 hypereosinophilic syndrome, idiopathic 10.1 KIT WT1
21 cystic nephroma 10.1 KIT WT1
22 spindle cell liposarcoma 10.1 KIT WT1
23 germ cells tumors 10.1
24 heart sarcoma 10.0 KIT WT1
25 chronic eosinophilic leukemia 10.0 KIT WT1
26 congenital mesoblastic nephroma 10.0 KIT WT1
27 hereditary wilms' tumor 10.0
28 core binding factor acute myeloid leukemia 10.0 KIT WT1
29 dysgerminoma of ovary 10.0 KIT WT1
30 uterine sarcoma 10.0 KIT WT1
31 wilms tumor 5 10.0
32 wilms tumor 6 10.0
33 pseudohermaphroditism 10.0
34 sex cord-gonadal stromal tumor 9.9 FOXL2 WT1
35 malignant mesenchymoma 9.9 KIT WT1
36 46,xy partial gonadal dysgenesis 9.9 SOX9 SRY WT1
37 ovarian brenner tumor 9.9 KIT WT1
38 prostatitis 9.9
39 embryonal carcinoma 9.9
40 sertoli cell tumor 9.9
41 mixed germ cell tumor 9.9
42 muscle cancer 9.9 KIT WT1
43 hypospadias 9.9 SOX9 SRY WT1
44 male reproductive system disease 9.9 RBMY1A1 SRY
45 reproductive system disease 9.9 FOXL2 RBMY1A1 SRY
46 amelanotic melanoma 9.8 CAT KIT
47 peutz-jeghers syndrome 9.8
48 prostate cancer 9.8
49 denys-drash syndrome 9.8
50 ataxia-telangiectasia 9.8

Graphical network of the top 20 diseases related to Gonadoblastoma:



Diseases related to Gonadoblastoma

Symptoms & Phenotypes for Gonadoblastoma

Symptoms via clinical synopsis from OMIM:

53
Oncology:
gonadoblastoma risk

Lab:
presence of y-chromosomal material

GU:
phenotypic females with dysgenetic gonads


Clinical features from OMIM:

424500

Human phenotypes related to Gonadoblastoma:

55 31 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abdominal pain 55 31 occasional (7.5%) Occasional (29-5%) HP:0002027
2 ambiguous genitalia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000062
3 abdominal distention 55 31 occasional (7.5%) Occasional (29-5%) HP:0003270
4 increased serum testosterone level 55 31 occasional (7.5%) Occasional (29-5%) HP:0030088
5 female external genitalia in individual with 46,xy karyotype 55 31 hallmark (90%) Very frequent (99-80%) HP:0008730
6 gonadal dysgenesis with female appearance, male 55 31 frequent (33%) Frequent (79-30%) HP:0008723
7 hirsutism 55 31 occasional (7.5%) Occasional (29-5%) HP:0001007
8 ovarian gonadoblastoma 55 31 hallmark (90%) Very frequent (99-80%) HP:0000149
9 gonadal calcification 55 31 frequent (33%) Frequent (79-30%) HP:0008703
10 dysgerminoma 55 31 frequent (33%) Frequent (79-30%) HP:0100621
11 abnormality of metabolism/homeostasis 31 HP:0001939
12 abnormality of the ovary 55 Very frequent (99-80%)
13 gonadoblastoma 31 HP:0000150

MGI Mouse Phenotypes related to Gonadoblastoma:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 no phenotypic analysis MP:0003012 9.35 FOXL2 KIT SOX9 TSPYL2 WT1
2 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:

# Genetic test Affiliating Genes
1 Gonadoblastoma 28

Anatomical Context for Gonadoblastoma

MalaCards organs/tissues related to Gonadoblastoma:

38
Ovary, Testis, Prostate, Kidney, Testes, Lymph Node

Publications for Gonadoblastoma

Articles related to Gonadoblastoma:

(show top 50) (show all 264)
# Title Authors Year
1
WT1 Gene Mutation, p.R462W, in a 46,XY DSD Patient from Egypt with Gonadoblastoma and Review of the Literature. ( 29320783 )
2018
2
Classical gonadoblastoma: its relationship to the "dissecting" variant and undifferentiated gonadal tissue. ( 28881049 )
2017
3
Laparoscopically Removed Streak Gonad Revealed Gonadoblastoma in Frasier Syndrome. ( 28668903 )
2017
4
Dysgerminoma and Gonadoblastoma with Para-aortic Lymph Node Metastasis in a Patient with Swyer Syndrome. ( 28748865 )
2017
5
Risk of Gonadoblastoma Development in Patients with Turner Syndrome with Cryptic Y Chromosome Material. ( 28349385 )
2017
6
Case Report: Use of Tumor and Germline Y Chromosomal Analysis to Guide Surgical Management in a 46, XX Female Presenting With Gonadoblastoma With Dysgerminoma. ( 28800577 )
2017
7
Adolescent Female With Turner's Syndrome and 46,X,der(Y) del(Y)(p11.2)del(q11.2) Karyotype With Gonadoblastoma and Dysgerminoma. ( 29187016 )
2017
8
Swyer Syndrome With Gonadoblastoma: A Clinicoradiological Approach. ( 28479759 )
2017
9
Mixed Gonadal Germ Cell Tumor Composed of a Spermatocytic Tumor-Like Component and Germinoma Arising in Gonadoblastoma in a Phenotypic Woman With a 46, XX Peripheral Karyotype: Report of the First Case. ( 28614211 )
2017
10
Malignant Mixed Germ Cell Tumor Overgrowing a Gonadoblastoma in a Female With a 46, XX Karyotype: A Case Report. ( 29183227 )
2017
11
Early Bilateral Gonadoblastoma in a Young Child with Mosaicism for Turner Syndrome and Trisomy 18 with Y Chromosome. ( 27614983 )
2016
12
Dysgerminoma and gonadoblastoma in the course of Swyer syndrome. ( 28547971 )
2016
13
Gonadoblastoma in patients with 45,X/46,XY mosaicism: A 16-year experience. ( 27052295 )
2016
14
Unilateral gonadoblastoma with dysgerminoma in normal fertile woman having a child: Extremely rare occurrence with characteristic immunohistomorphology. ( 27721289 )
2016
15
Gonadoblastoma in a patient with 46, XY complete gonadal dysgenesis. ( 28621097 )
2016
16
Gonadoblastoma and papillary tubal hyperplasia in ovotesticular syndrome. ( 27087521 )
2016
17
Swyer's Syndrome with Mixed Ovarian Malignant Germ Cell Tumor and Ovarian Gonadoblastoma. ( 27411466 )
2016
18
Gonadoblastoma in patients with ullrich-turner syndrome. ( 25535833 )
2015
19
Gonadoblastoma with Dysgerminoma in a Phenotypically Turner-Like Girl with 45,X/46,XY Karyotype. ( 26777047 )
2015
20
Occurrence of Gonadoblastoma in Patients with 45,X/46,XY Mosaicism. ( 26046609 )
2015
21
WT1 Deletion Leading to Severe 46,XY Gonadal Dysgenesis, Wilms Tumor and Gonadoblastoma: Case Report. ( 25613702 )
2015
22
Analyses of Gonadoblastoma Y (GBY)-locus and of Y Centromere in Turner Syndrome Patients. ( 25314650 )
2014
23
Gonadoblastoma and hepatoid and endometrioid-like yolk sac tumor: an update. ( 24901396 )
2014
24
Gonadoblastoma: an immunohistochemical study and comparison to Sertoli cell nodule with intratubular germ cell neoplasia, with pathogenetic implications. ( 24766183 )
2014
25
Dysgerminoma on a gonadoblastoma in a patient with Swyer syndrome treated with single incision laparoscopic surgery. ( 24960113 )
2014
26
Gonadoblastoma and selected other aspects of gonadal pathology in young patients with disorders of sex development. ( 25129544 )
2014
27
The Y-located gonadoblastoma gene TSPY amplifies its own expression through a positive feedback loop in prostate cancer cells. ( 24583132 )
2014
28
46,XY female sex reversal syndrome with bilateral gonadoblastoma and dysgerminoma. ( 25187804 )
2014
29
Ovarian Gonadoblastoma with Dysgerminoma in a Young Girl with 46, XX Karyotype: A Case Report. ( 24179931 )
2013
30
Early presentation of bilateral gonadoblastoma in Turner syndrome. ( 23337547 )
2013
31
Early presentation of bilateral gonadoblastomas in a Denys-Drash syndrome patient: a cautionary tale for prophylactic gonadectomy. ( 23729537 )
2013
32
Expression of SALL4 and SF-1 in gonadoblastoma: useful markers in the identification of the invasive germ cell component. ( 23722510 )
2013
33
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
34
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
35
Gonadoblastoma in the ovaries of a lesser galago (Galago senegalensis braccatus). ( 22520808 )
2012
36
A 46,XY female DSD patient with bilateral gonadoblastoma, a novel SRY missense mutation combined with a WT1 KTS splice-site mutation. ( 22815844 )
2012
37
Ovarian gonadoblastoma with dysgerminoma in a 15-year-old girl with 46, XX karyotype: case report and review of the literature. ( 21879333 )
2012
38
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
39
Prevalence of c-KIT mutations in gonadoblastoma and dysgerminomas of patients with disorders of sex development (DSD) and ovarian dysgerminomas. ( 22937135 )
2012
40
Gonadoblastoma: Case report of two young patients with isochromosome 12p found in the dysgerminoma overgrowth component in one case. ( 22906432 )
2012
41
Ovarian gonadoblastoma with dysgerminoma in a woman with 46XX karyotype. ( 21355962 )
2011
42
FOXL2 and SOX9 distinguish the lineage of the sex cord-stromal cells in gonadoblastomas. ( 21682576 )
2011
43
Role of the Y-located putative gonadoblastoma gene in human spermatogenesis. ( 21204751 )
2011
44
Denys-Drash syndrome and gonadoblastoma in a patient with Klinefelter syndrome. ( 21552011 )
2011
45
Testicular gonadoblastoma in two pet domestic rabbits (Oryctolagus cuniculus domesticus). ( 21908369 )
2011
46
Coexistence of gonadoblastoma and dysgerminoma in a dysgenetic gonad on touch preparation: a case report. ( 21162092 )
2011
47
Bilateral ovarian gonadoblastoma with coexisting dysgerminoma in a girl with 46, XX karyotype. ( 20598061 )
2010
48
Coexistence of a choriocarcinoma and a gonadoblastoma in the gonad of a 46,XY female: a single nucleotide polymorphism array analysis. ( 19425818 )
2010
49
Bilateral gonadoblastomas with unilateral dysgerminoma in a case of 46 XY pure gonadal dysgenesis (Swyer syndrome). ( 20551568 )
2010
50
Gonadoblastoma: an unusual ovarian tumor. ( 20637428 )
2010

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:

# 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 13)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.76 FOXL2 SOX9 SRY WT1
2 regulation of transcription by RNA polymerase II GO:0006357 9.71 KIT SOX9 SRY WT1
3 ureteric bud development GO:0001657 9.52 CAT WT1
4 branching involved in ureteric bud morphogenesis GO:0001658 9.51 SOX9 WT1
5 nucleosome assembly GO:0006334 9.5 SOX9 TSPY1 TSPYL2
6 ovarian follicle development GO:0001541 9.49 FOXL2 KIT
7 response to radiation GO:0009314 9.48 CAT KIT
8 response to cadmium ion GO:0046686 9.43 CAT KIT
9 sex differentiation GO:0007548 9.37 SRY TSPY1
10 male gonad development GO:0008584 9.33 KIT SOX9 WT1
11 male sex determination GO:0030238 9.26 SOX9 SRY
12 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.13 CAT KIT SOX9
13 positive regulation of male gonad development GO:2000020 8.8 SOX9 SRY WT1

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

# Name GO ID Score Top Affiliating Genes
1 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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