MCID: GND001
MIFTS: 45

Gonadoblastoma

Categories: Reproductive diseases, Cancer diseases, Rare diseases, Endocrine diseases

Aliases & Classifications for Gonadoblastoma

MalaCards integrated aliases for Gonadoblastoma:

Name: Gonadoblastoma 57 12 59 29 55 44 15 73
Gby 57

Characteristics:

Orphanet epidemiological data:

59
gonadoblastoma
Age of onset: Adolescent;

OMIM:

57
Inheritance:
y-linked (pericentromeric vs. yq)


HPO:

32
gonadoblastoma:
Inheritance y-linked inheritance


Classifications:



External Ids:

OMIM 57 424500
Disease Ontology 12 DOID:3301
MeSH 44 D018238
NCIt 50 C3754
SNOMED-CT 68 74751003
Orphanet 59 ORPHA206484
ICD10 via Orphanet 34 D39.1
MedGen 42 C0206661
UMLS 73 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. 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 abdominal pain and ambiguous genitalia

Wikipedia : 76 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 32.9 KIT WT1
2 frasier syndrome 31.2 SOX9 SRY WT1
3 hermaphroditism 30.6 SOX9 SRY
4 mixed gonadal dysgenesis 30.0 FOXL2 SOX9 SRY
5 campomelic dysplasia 29.9 SOX9 SRY
6 46 xy gonadal dysgenesis 29.5 SOX9 SRY WT1
7 seminoma 29.3 ALPG ALPP KIT TSPY1
8 sex cord-gonadal stromal tumor 28.9 FOXL2 WT1
9 gonadal dysgenesis 28.8 FOXL2 SOX9 SRY TSPY1 WT1
10 pseudohermaphroditism 28.8 SRY WT1
11 ovarian gonadoblastoma 12.2
12 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 11.5
13 complete androgen insensitivity syndrome 10.5 ALPG SRY
14 46,xx sex reversal 1 10.4 SOX9 SRY
15 testicular disease 10.4 SOX9 SRY
16 partial deletion of y 10.3 RBMY1A1 TSPY1
17 prostatic hypertrophy 10.2 ALPP SRY
18 turner syndrome 10.2
19 46,xy sex reversal 1 10.1
20 germ cells tumors 10.1
21 wilms tumor 5 10.0
22 wilms tumor 6 10.0
23 endodermal sinus tumor 10.0
24 prostate cancer 9.9
25 prostatitis 9.9
26 embryonal carcinoma 9.9
27 sertoli cell tumor 9.9
28 mixed germ cell tumor 9.9
29 testicular granulosa cell tumor 9.9 FOXL2 WT1
30 juvenile type testicular granulosa cell tumor 9.9 FOXL2 WT1
31 male reproductive system disease 9.8 RBMY1A1 SRY
32 breast cancer 9.8
33 peutz-jeghers syndrome 9.8
34 denys-drash syndrome 9.8
35 ataxia-telangiectasia 9.8
36 amenorrhea 9.8
37 cervicitis 9.8
38 choriocarcinoma 9.8
39 malignant germ cell tumor 9.8
40 precocious puberty 9.8
41 testicular seminoma 9.8
42 reproductive system disease 9.8 FOXL2 RBMY1A1 SRY
43 hypereosinophilic syndrome, idiopathic 9.8 KIT WT1
44 cystic nephroma 9.7 KIT WT1
45 spindle cell liposarcoma 9.7 KIT WT1
46 heart sarcoma 9.7 KIT WT1
47 chronic eosinophilic leukemia 9.7 KIT WT1
48 congenital mesoblastic nephroma 9.7 KIT WT1
49 kaposi sarcoma 9.7
50 suppressor of tumorigenicity 3 9.7

Graphical network of the top 20 diseases related to Gonadoblastoma:



Diseases related to Gonadoblastoma

Symptoms & Phenotypes for Gonadoblastoma

Symptoms via clinical synopsis from OMIM:

57
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:

59 32 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abdominal pain 59 32 occasional (7.5%) Occasional (29-5%) HP:0002027
2 ambiguous genitalia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000062
3 abdominal distention 59 32 occasional (7.5%) Occasional (29-5%) HP:0003270
4 increased serum testosterone level 59 32 occasional (7.5%) Occasional (29-5%) HP:0030088
5 female external genitalia in individual with 46,xy karyotype 59 32 hallmark (90%) Very frequent (99-80%) HP:0008730
6 gonadal dysgenesis with female appearance, male 59 32 frequent (33%) Frequent (79-30%) HP:0008723
7 hirsutism 59 32 occasional (7.5%) Occasional (29-5%) HP:0001007
8 ovarian gonadoblastoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0000149
9 gonadal calcification 59 32 frequent (33%) Frequent (79-30%) HP:0008703
10 dysgerminoma 59 32 frequent (33%) Frequent (79-30%) HP:0100621
11 abnormality of metabolism/homeostasis 32 HP:0001939
12 abnormality of the ovary 59 Very frequent (99-80%)
13 gonadoblastoma 32 HP:0000150

MGI Mouse Phenotypes related to Gonadoblastoma:

46
# 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 ALPG 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 29

Anatomical Context for Gonadoblastoma

MalaCards organs/tissues related to Gonadoblastoma:

41
Ovary, Testis, Prostate, Breast, Kidney, Testes, Lymph Node

Publications for Gonadoblastoma

Articles related to Gonadoblastoma:

(show top 50) (show all 265)
# 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
Dysgerminoma and Gonadoblastoma with Para-aortic Lymph Node Metastasis in a Patient with Swyer Syndrome. ( 28748865 )
2017
3
Swyer Syndrome With Gonadoblastoma: A Clinicoradiological Approach. ( 28479759 )
2017
4
Classical gonadoblastoma: its relationship to the "dissecting" variant and undifferentiated gonadal tissue. ( 28881049 )
2017
5
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
6
Malignant Mixed Germ Cell Tumor Overgrowing a Gonadoblastoma in a Female With a 46, XX Karyotype: A Case Report. ( 29183227 )
2017
7
Risk of Gonadoblastoma Development in Patients with Turner Syndrome with Cryptic Y Chromosome Material. ( 28349385 )
2017
8
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
9
Laparoscopically Removed Streak Gonad Revealed Gonadoblastoma in Frasier Syndrome. ( 28668903 )
2017
10
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
11
Dysgerminoma and gonadoblastoma in the course of Swyer syndrome. ( 28547971 )
2016
12
Gonadoblastoma and papillary tubal hyperplasia in ovotesticular syndrome. ( 27087521 )
2016
13
Unilateral gonadoblastoma with dysgerminoma in normal fertile woman having a child: Extremely rare occurrence with characteristic immunohistomorphology. ( 27721289 )
2016
14
[Prevalence of Y-chromosome sequences and gonadoblastoma in Turner syndrome]. ( 26525685 )
2016
15
Early Bilateral Gonadoblastoma in a Young Child with Mosaicism for Turner Syndrome and Trisomy 18 with Y Chromosome. ( 27614983 )
2016
16
Gonadoblastoma in a patient with 46, XY complete gonadal dysgenesis. ( 28621097 )
2016
17
Swyer's Syndrome with Mixed Ovarian Malignant Germ Cell Tumor and Ovarian Gonadoblastoma. ( 27411466 )
2016
18
Gonadoblastoma in patients with 45,X/46,XY mosaicism: A 16-year experience. ( 27052295 )
2016
19
Gonadoblastoma in patients with ullrich-turner syndrome. ( 25535833 )
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
Gonadoblastoma with Dysgerminoma in a Phenotypically Turner-Like Girl with 45,X/46,XY Karyotype. ( 26777047 )
2015
23
Dysgerminoma on a gonadoblastoma in a patient with Swyer syndrome treated with single incision laparoscopic surgery. ( 24960113 )
2014
24
46,XY female sex reversal syndrome with bilateral gonadoblastoma and dysgerminoma. ( 25187804 )
2014
25
Gonadoblastoma and hepatoid and endometrioid-like yolk sac tumor: an update. ( 24901396 )
2014
26
Gonadoblastoma: an immunohistochemical study and comparison to Sertoli cell nodule with intratubular germ cell neoplasia, with pathogenetic implications. ( 24766183 )
2014
27
Gonadoblastoma and selected other aspects of gonadal pathology in young patients with disorders of sex development. ( 25129544 )
2014
28
Analyses of Gonadoblastoma Y (GBY)-locus and of Y Centromere in Turner Syndrome Patients. ( 25314650 )
2014
29
The Y-located gonadoblastoma gene TSPY amplifies its own expression through a positive feedback loop in prostate cancer cells. ( 24583132 )
2014
30
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
31
Ovarian Gonadoblastoma with Dysgerminoma in a Young Girl with 46, XX Karyotype: A Case Report. ( 24179931 )
2013
32
Early presentation of bilateral gonadoblastomas in a Denys-Drash syndrome patient: a cautionary tale for prophylactic gonadectomy. ( 23729537 )
2013
33
Early presentation of bilateral gonadoblastoma in Turner syndrome. ( 23337547 )
2013
34
Expression of SALL4 and SF-1 in gonadoblastoma: useful markers in the identification of the invasive germ cell component. ( 23722510 )
2013
35
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
36
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
37
A 46,XY female DSD patient with bilateral gonadoblastoma, a novel SRY missense mutation combined with a WT1 KTS splice-site mutation. ( 22815844 )
2012
38
Gonadoblastoma: Case report of two young patients with isochromosome 12p found in the dysgerminoma overgrowth component in one case. ( 22906432 )
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 in the ovaries of a lesser galago (Galago senegalensis braccatus). ( 22520808 )
2012
41
Ovarian gonadoblastoma with dysgerminoma in a 15-year-old girl with 46, XX karyotype: case report and review of the literature. ( 21879333 )
2012
42
FOXL2 and SOX9 distinguish the lineage of the sex cord-stromal cells in gonadoblastomas. ( 21682576 )
2011
43
Denys-Drash syndrome and gonadoblastoma in a patient with Klinefelter syndrome. ( 21552011 )
2011
44
Testicular gonadoblastoma in two pet domestic rabbits (Oryctolagus cuniculus domesticus). ( 21908369 )
2011
45
Coexistence of gonadoblastoma and dysgerminoma in a dysgenetic gonad on touch preparation: a case report. ( 21162092 )
2011
46
Role of the Y-located putative gonadoblastoma gene in human spermatogenesis. ( 21204751 )
2011
47
Ovarian gonadoblastoma with dysgerminoma in a woman with 46XX karyotype. ( 21355962 )
2011
48
Gonadoblastoma: an unusual ovarian tumor. ( 20637428 )
2010
49
Bilateral ovarian gonadoblastoma with coexisting dysgerminoma in a girl with 46, XX karyotype. ( 20598061 )
2010
50
Sertoli cell tumor with benign peritoneal implants associated with gonadoblastoma. ( 20736766 )
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 10.92 ALPP SOX9 WT1
2 10.89 SOX9 SRY
3
Show member pathways
10.62 ALPG ALPP
4 10.16 ALPG ALPP

GO Terms for Gonadoblastoma

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

# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 9.83 FOXL2 KIT SOX9 SRY WT1
2 cell differentiation GO:0030154 9.72 FOXL2 KIT SOX9 SRY TSPY1
3 positive regulation of transcription, DNA-templated GO:0045893 9.71 FOXL2 SOX9 SRY WT1
4 branching involved in ureteric bud morphogenesis GO:0001658 9.48 SOX9 WT1
5 ovarian follicle development GO:0001541 9.46 FOXL2 KIT
6 nucleosome assembly GO:0006334 9.43 SOX9 TSPY1 TSPYL2
7 sex differentiation GO:0007548 9.37 SRY TSPY1
8 male sex determination GO:0030238 9.16 SOX9 SRY
9 male gonad development GO:0008584 9.13 KIT SOX9 WT1
10 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 9.13 FOXL2 SOX9 WT1
2 alkaline phosphatase activity GO:0004035 8.62 ALPG ALPP

Sources for Gonadoblastoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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