GBY
MCID: GND001
MIFTS: 45

Gonadoblastoma (GBY)

Categories: Cancer diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Gonadoblastoma

MalaCards integrated aliases for Gonadoblastoma:

Name: Gonadoblastoma 58 12 60 30 56 45 15 74
Gby 58

Characteristics:

Orphanet epidemiological data:

60
gonadoblastoma
Age of onset: Adolescent;

OMIM:

58
Inheritance:
y-linked (pericentromeric vs. yq)


HPO:

33
gonadoblastoma:
Inheritance y-linked inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:3301
OMIM 58 424500
MeSH 45 D018238
NCIt 51 C3754
SNOMED-CT 69 74751003
ICD10 via Orphanet 35 D39.1
Orphanet 60 ORPHA206484
MedGen 43 C0206661
UMLS 74 C0206661

Summaries for Gonadoblastoma

Disease Ontology : 12 A cell type benign neoplasm that is composed_of a mixture of gonadal elements, such as large primordial germ cells, immature Sertoli cells or granulosa cells of the sex cord, and gonadal stromal cells (which comprises the granulosa, theca, and fibrocyte cells).

MalaCards based summary : Gonadoblastoma, also known as gby, is related to testicular gonadoblastoma and frasier syndrome. An important gene associated with Gonadoblastoma is TSPY1 (Testis Specific Protein Y-Linked 1), and among its related pathways/superpathways are Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Deactivation of the beta-catenin transactivating complex. Affiliated tissues include ovary, testis and prostate, and related phenotypes are female external genitalia in individual with 46,xy karyotype and ovarian gonadoblastoma

CDC : 3 0 0 0 0 0 0

Wikipedia : 77 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 90)
# Related Disease Score Top Affiliating Genes
1 testicular gonadoblastoma 33.3 KIT WT1
2 frasier syndrome 31.9 SOX9 SRY WT1
3 46,xy sex reversal 1 30.8 SOX9 SRY
4 turner syndrome 30.8 SRY TSPY1
5 46 xy gonadal dysgenesis 30.3 SOX9 SRY WT1
6 seminoma 30.3 ALPP KIT TSPY1
7 mixed gonadal dysgenesis 30.2 FOXL2 SOX9 SRY
8 gonadal dysgenesis 30.1 FOXL2 SOX9 SRY TSPY1 WT1
9 pseudohermaphroditism 30.0 SRY WT1
10 campomelic dysplasia 29.9 SOX9 SRY
11 dysgerminoma 29.9 ALPP KIT SRY TSPY1 WT1
12 sex cord-gonadal stromal tumor 29.6 FOXL2 WT1
13 aniridia 1 29.4 CAT WT1
14 mixed germ cell-sex cord neoplasm 29.4 KIT TSPY1 WT1
15 ovarian gonadoblastoma 12.4
16 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 11.7
17 46,xx sex reversal 1 10.2 SOX9 SRY
18 germ cells tumors 10.2
19 hermaphroditism 10.2 SOX9 SRY
20 46, xy disorders of sexual development 10.2
21 wilms tumor 5 10.1
22 wilms tumor 6 10.1
23 embryonal carcinoma 10.1
24 sertoli cell tumor 10.1
25 in situ carcinoma 10.1
26 mixed germ cell tumor 10.1
27 keratosis 10.1
28 actinic keratosis 10.1
29 gonadal disease 10.0 FOXL2 SRY
30 amelanotic melanoma 10.0 CAT KIT
31 breast cancer 10.0
32 peutz-jeghers syndrome 10.0
33 prostate cancer 10.0
34 denys-drash syndrome 10.0
35 ataxia-telangiectasia 10.0
36 prostate cancer, hereditary, 8 10.0
37 prostate cancer, hereditary, 6 10.0
38 amenorrhea 10.0
39 choriocarcinoma 10.0
40 47,xyy 10.0
41 precocious puberty 10.0
42 testicular seminoma 10.0
43 testicular granulosa cell tumor 9.9 FOXL2 WT1
44 juvenile type testicular granulosa cell tumor 9.9 FOXL2 WT1
45 male reproductive organ benign neoplasm 9.9 FOXL2 WT1
46 testicular cancer 9.9 ALPP TSPY1
47 peritoneal benign neoplasm 9.9 KIT WT1
48 diffuse peritoneal leiomyomatosis 9.9 KIT WT1
49 hypereosinophilic syndrome, idiopathic 9.9 KIT WT1
50 cystic nephroma 9.9 KIT WT1

Graphical network of the top 20 diseases related to Gonadoblastoma:



Diseases related to Gonadoblastoma

Symptoms & Phenotypes for Gonadoblastoma

Human phenotypes related to Gonadoblastoma:

60 33 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 female external genitalia in individual with 46,xy karyotype 60 33 hallmark (90%) Very frequent (99-80%) HP:0008730
2 ovarian gonadoblastoma 60 33 hallmark (90%) Very frequent (99-80%) HP:0000149
3 gonadal dysgenesis with female appearance, male 60 33 frequent (33%) Frequent (79-30%) HP:0008723
4 gonadal calcification 60 33 frequent (33%) Frequent (79-30%) HP:0008703
5 dysgerminoma 60 33 frequent (33%) Frequent (79-30%) HP:0100621
6 abdominal pain 60 33 occasional (7.5%) Occasional (29-5%) HP:0002027
7 ambiguous genitalia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000062
8 abdominal distention 60 33 occasional (7.5%) Occasional (29-5%) HP:0003270
9 increased serum testosterone level 60 33 occasional (7.5%) Occasional (29-5%) HP:0030088
10 hirsutism 60 33 occasional (7.5%) Occasional (29-5%) HP:0001007
11 abnormality of metabolism/homeostasis 33 HP:0001939
12 abnormality of the ovary 60 Very frequent (99-80%)
13 gonadoblastoma 33 HP:0000150

Symptoms via clinical synopsis from OMIM:

58
Oncology:
gonadoblastoma risk

Lab:
presence of y-chromosomal material

G U:
phenotypic females with dysgenetic gonads

Clinical features from OMIM:

424500

MGI Mouse Phenotypes related to Gonadoblastoma:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 9.26 CAT KIT TSPYL2 WT1
2 no phenotypic analysis MP:0003012 9.02 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 30

Anatomical Context for Gonadoblastoma

MalaCards organs/tissues related to Gonadoblastoma:

42
Ovary, Testis, Prostate, Breast, Kidney, Testes, Lymph Node

Publications for Gonadoblastoma

Articles related to Gonadoblastoma:

(show top 50) (show all 266)
# Title Authors Year
1
Early Bilateral Gonadoblastoma Associated With 45,X/46,XY Mosaicism: The Spectrum of Undifferentiated Gonadal Tissue and Gonadoblastoma in the First Months of Life. ( 30646821 )
2019
2
Gonadoblastoma Y locus genes expressed in germ cells of individuals with dysgenetic gonads and a Y chromosome in their karyotypes include DDX3Y and TSPY. ( 30753444 )
2019
3
WT1 Gene Mutation, p.R462W, in a 46,XY DSD Patient from Egypt with Gonadoblastoma and Review of the Literature. ( 29320783 )
2018
4
Classic and "Dissecting" Gonadoblastoma in a Phenotypic Girl With a 46, XX Peripheral Karyotype and No Evidence of a Disorder of Sex Development. ( 30252730 )
2018
5
Dysgerminoma and Gonadoblastoma with Para-aortic Lymph Node Metastasis in a Patient with Swyer Syndrome. ( 28748865 )
2017
6
Swyer Syndrome With Gonadoblastoma: A Clinicoradiological Approach. ( 28479759 )
2017
7
Classical gonadoblastoma: its relationship to the "dissecting" variant and undifferentiated gonadal tissue. ( 28881049 )
2017
8
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
9
Malignant Mixed Germ Cell Tumor Overgrowing a Gonadoblastoma in a Female With a 46, XX Karyotype: A Case Report. ( 29183227 )
2017
10
Risk of Gonadoblastoma Development in Patients with Turner Syndrome with Cryptic Y Chromosome Material. ( 28349385 )
2017
11
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
12
Laparoscopically Removed Streak Gonad Revealed Gonadoblastoma in Frasier Syndrome. ( 28668903 )
2017
13
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
14
"Dissecting Gonadoblastoma" of Scully: A Morphologic Variant That Often Mimics Germinoma. ( 27454939 )
2016
15
Dysgerminoma and gonadoblastoma in the course of Swyer syndrome. ( 28547971 )
2016
16
Gonadoblastoma and papillary tubal hyperplasia in ovotesticular syndrome. ( 27087521 )
2016
17
Unilateral gonadoblastoma with dysgerminoma in normal fertile woman having a child: Extremely rare occurrence with characteristic immunohistomorphology. ( 27721289 )
2016
18
[Prevalence of Y-chromosome sequences and gonadoblastoma in Turner syndrome]. ( 26525685 )
2016
19
Early Bilateral Gonadoblastoma in a Young Child with Mosaicism for Turner Syndrome and Trisomy 18 with Y Chromosome. ( 27614983 )
2016
20
Gonadoblastoma in a patient with 46, XY complete gonadal dysgenesis. ( 28621097 )
2016
21
Swyer's Syndrome with Mixed Ovarian Malignant Germ Cell Tumor and Ovarian Gonadoblastoma. ( 27411466 )
2016
22
Gonadoblastoma in patients with 45,X/46,XY mosaicism: A 16-year experience. ( 27052295 )
2016
23
Gonadoblastoma in patients with ullrich-turner syndrome. ( 25535833 )
2015
24
Occurrence of Gonadoblastoma in Patients with 45,X/46,XY Mosaicism. ( 26046609 )
2015
25
WT1 Deletion Leading to Severe 46,XY Gonadal Dysgenesis, Wilms Tumor and Gonadoblastoma: Case Report. ( 25613702 )
2015
26
Gonadoblastoma with Dysgerminoma in a Phenotypically Turner-Like Girl with 45,X/46,XY Karyotype. ( 26777047 )
2015
27
Dysgerminoma on a gonadoblastoma in a patient with Swyer syndrome treated with single incision laparoscopic surgery. ( 24960113 )
2014
28
46,XY female sex reversal syndrome with bilateral gonadoblastoma and dysgerminoma. ( 25187804 )
2014
29
Gonadoblastoma and hepatoid and endometrioid-like yolk sac tumor: an update. ( 24901396 )
2014
30
Gonadoblastoma: an immunohistochemical study and comparison to Sertoli cell nodule with intratubular germ cell neoplasia, with pathogenetic implications. ( 24766183 )
2014
31
Gonadoblastoma and selected other aspects of gonadal pathology in young patients with disorders of sex development. ( 25129544 )
2014
32
Analyses of Gonadoblastoma Y (GBY)-locus and of Y Centromere in Turner Syndrome Patients. ( 25314650 )
2014
33
The Y-located gonadoblastoma gene TSPY amplifies its own expression through a positive feedback loop in prostate cancer cells. ( 24583132 )
2014
34
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
35
Ovarian Gonadoblastoma with Dysgerminoma in a Young Girl with 46, XX Karyotype: A Case Report. ( 24179931 )
2013
36
Early presentation of bilateral gonadoblastoma in Turner syndrome. ( 23337547 )
2013
37
Expression of SALL4 and SF-1 in gonadoblastoma: useful markers in the identification of the invasive germ cell component. ( 23722510 )
2013
38
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
39
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
40
A 46,XY female DSD patient with bilateral gonadoblastoma, a novel SRY missense mutation combined with a WT1 KTS splice-site mutation. ( 22815844 )
2012
41
Gonadoblastoma: Case report of two young patients with isochromosome 12p found in the dysgerminoma overgrowth component in one case. ( 22906432 )
2012
42
Prevalence of c-KIT mutations in gonadoblastoma and dysgerminomas of patients with disorders of sex development (DSD) and ovarian dysgerminomas. ( 22937135 )
2012
43
Gonadoblastoma in the ovaries of a lesser galago (Galago senegalensis braccatus). ( 22520808 )
2012
44
Ovarian gonadoblastoma with dysgerminoma in a 15-year-old girl with 46, XX karyotype: case report and review of the literature. ( 21879333 )
2012
45
Denys-Drash syndrome and gonadoblastoma in a patient with Klinefelter syndrome. ( 21552011 )
2011
46
Testicular gonadoblastoma in two pet domestic rabbits (Oryctolagus cuniculus domesticus). ( 21908369 )
2011
47
Coexistence of gonadoblastoma and dysgerminoma in a dysgenetic gonad on touch preparation: a case report. ( 21162092 )
2011
48
Role of the Y-located putative gonadoblastoma gene in human spermatogenesis. ( 21204751 )
2011
49
Ovarian gonadoblastoma with dysgerminoma in a woman with 46XX karyotype. ( 21355962 )
2011
50
Lentic Basommatophora molluscs and hygrophilous land snails as indicators of habitat and climate in the Early-Middle Pleistocene (0.78 Ma) at the site of Gesher Benot Ya'aqov (GBY), Israel. ( 20541788 )
2011

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 10.92 ALPP SOX9 WT1
2 10.59 SOX9 SRY

GO Terms for Gonadoblastoma

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

# Name GO ID Score Top Affiliating Genes
1 nuclear transcription factor complex GO:0044798 8.62 SOX9 SRY

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.78 FOXL2 SOX9 SRY WT1
2 cell differentiation GO:0030154 9.62 FOXL2 SOX9 SRY TSPY1
3 negative regulation of apoptotic process GO:0043066 9.61 CAT SOX9 WT1
4 somatic stem cell population maintenance GO:0035019 9.55 KIT SOX9
5 branching involved in ureteric bud morphogenesis GO:0001658 9.54 SOX9 WT1
6 ureteric bud development GO:0001657 9.52 CAT WT1
7 ovarian follicle development GO:0001541 9.51 FOXL2 KIT
8 response to radiation GO:0009314 9.49 CAT KIT
9 response to cadmium ion GO:0046686 9.46 CAT KIT
10 nucleosome assembly GO:0006334 9.43 SOX9 TSPY1 TSPYL2
11 sex differentiation GO:0007548 9.4 SRY TSPY1
12 male sex determination GO:0030238 9.37 SOX9 SRY
13 male gonad development GO:0008584 9.33 KIT SOX9 WT1
14 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.13 CAT KIT SOX9
15 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 DNA-binding transcription factor activity GO:0003700 8.92 FOXL2 SOX9 SRY WT1

Sources for Gonadoblastoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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