MCID: GND001
MIFTS: 43

Gonadoblastoma

Categories: Reproductive diseases, Cancer diseases, Rare diseases

Aliases & Classifications for Gonadoblastoma

MalaCards integrated aliases for Gonadoblastoma:

Name: Gonadoblastoma 54 12 56 29 52 42 14 69

Characteristics:

Orphanet epidemiological data:

56
gonadoblastoma
Age of onset: Adolescent;

OMIM:

54
Inheritance:
y-linked (pericentromeric vs. yq)


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 ovarian gonadoblastoma and testicular gonadoblastoma, and has symptoms including hirsutism, ambiguous genitalia and abdominal pain. 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 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 82)
id Related Disease Score Top Affiliating Genes
1 ovarian gonadoblastoma 12.0
2 testicular gonadoblastoma 12.0
3 wagr syndrome 11.4
4 frasier syndrome 11.2
5 condrodisplasia punctata rizomélica 10.5 ALPPL2 SRY
6 spermatogenic failure, y-linked, 1 10.4 SOX9 SRY
7 vaginal discharge 10.4 SOX9 SRY
8 gonadal dysgenesis 10.4
9 splenic disease 10.4 SOX9 SRY
10 alveolar soft-part sarcoma 10.3 SOX9 SRY
11 central nervous system sarcoma 10.2 KIT SRY
12 turner syndrome 10.1
13 brucella melitensis brucellosis 10.1 FOXL2 SOX9 SRY
14 seminoma 10.0
15 wrinkles 10.0 SRY WT1
16 aniridia 9.9
17 germ cells tumors 9.9
18 hermaphroditism 9.9
19 epithelioid trophoblastic tumor 9.9 KIT WT1
20 wilms tumor 6 9.9 KIT WT1
21 pseudohermaphroditism 9.9
22 mixed gonadal dysgenesis 9.9
23 liver angiosarcoma 9.8 KIT WT1
24 lung leiomyosarcoma 9.8 KIT WT1
25 cutaneous liposarcoma 9.8 KIT WT1
26 alopecia antibody deficiency 9.8 KIT WT1
27 proliferative glomerulonephritis 9.8 KIT WT1
28 prostate cancer 9.8
29 prostatitis 9.8
30 embryonal carcinoma 9.8
31 sertoli cell tumor 9.8
32 dyserythropoietic anemia and thrombocytopenia 9.8 KIT WT1
33 vagina, absence of 9.8 KIT WT1
34 breast cancer 9.7
35 cervicitis 9.7
36 denys-drash syndrome 9.7
37 ataxia-telangiectasia 9.7
38 peutz-jeghers syndrome 9.7
39 malignant germ cell tumor 9.7
40 precocious puberty 9.7
41 testicular seminoma 9.7
42 ataxia 9.7
43 choriocarcinoma 9.7
44 mixed germ cell tumor 9.7
45 amenorrhea 9.7
46 hypogonadism 9.7 FOXL2 WT1
47 perivascular epithelioid cell tumor 9.7 KIT WT1
48 lung clear cell-sugar-tumor 9.7 KIT WT1
49 idiopathic recurrent pericarditis 9.7 SOX9 SRY WT1
50 meacham syndrome 9.6 SOX9 SRY WT1

Graphical network of the top 20 diseases related to Gonadoblastoma:



Diseases related to Gonadoblastoma

Symptoms & Phenotypes for Gonadoblastoma

Symptoms via clinical synopsis from OMIM:

54

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:

56 32 (show all 14)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hirsutism 56 32 occasional (7.5%) Occasional (29-5%) HP:0001007
2 ambiguous genitalia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000062
3 abdominal pain 56 32 occasional (7.5%) Occasional (29-5%) HP:0002027
4 abdominal distention 56 32 occasional (7.5%) Occasional (29-5%) HP:0003270
5 dysgerminoma 56 32 frequent (33%) Frequent (79-30%) HP:0100621
6 female external genitalia in individual with 46,xy karyotype 56 32 hallmark (90%) Very frequent (99-80%) HP:0008730
7 gonadal dysgenesis with female appearance, male 56 32 frequent (33%) Frequent (79-30%) HP:0008723
8 ovarian gonadoblastoma 56 32 hallmark (90%) Very frequent (99-80%) HP:0000149
9 gonadal calcification 56 32 frequent (33%) Frequent (79-30%) HP:0008703
10 gonadoblastoma 32 HP:0000150
11 increased testosterone 56 Occasional (29-5%)
12 abnormality of metabolism/homeostasis 32 HP:0001939
13 abnormality of the ovary 56 Very frequent (99-80%)
14 increased serum testosterone level 32 occasional (7.5%) HP:0030088

MGI Mouse Phenotypes related to Gonadoblastoma:

44
id 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:

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, Lymph Node

Publications for Gonadoblastoma

Articles related to Gonadoblastoma:

(show top 50) (show all 261)
id Title Authors Year
1
Risk of Gonadoblastoma Development in Patients with Turner Syndrome with Cryptic Y Chromosome Material. ( 28349385 )
2017
2
Dysgerminoma and Gonadoblastoma with Para-aortic Lymph Node Metastasis in a Patient with Swyer Syndrome. ( 28748865 )
2017
3
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
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
Swyer Syndrome With Gonadoblastoma: A Clinicoradiological Approach. ( 28479759 )
2017
7
Laparoscopically Removed Streak Gonad Revealed Gonadoblastoma in Frasier Syndrome. ( 28668903 )
2017
8
Swyer's Syndrome with Mixed Ovarian Malignant Germ Cell Tumor and Ovarian Gonadoblastoma. ( 27411466 )
2016
9
Gonadoblastoma in a patient with 46, XY complete gonadal dysgenesis. ( 28621097 )
2016
10
Early Bilateral Gonadoblastoma in a Young Child with Mosaicism for Turner Syndrome and Trisomy 18 with Y Chromosome. ( 27614983 )
2016
11
Unilateral gonadoblastoma with dysgerminoma in normal fertile woman having a child: Extremely rare occurrence with characteristic immunohistomorphology. ( 27721289 )
2016
12
Gonadoblastoma in patients with 45,X/46,XY mosaicism: A 16-year experience. ( 27052295 )
2016
13
Gonadoblastoma and papillary tubal hyperplasia in ovotesticular syndrome. ( 27087521 )
2016
14
Dysgerminoma and gonadoblastoma in the course of Swyer syndrome. ( 28547971 )
2016
15
WT1 Deletion Leading to Severe 46,XY Gonadal Dysgenesis, Wilms Tumor and Gonadoblastoma: Case Report. ( 25613702 )
2015
16
Gonadoblastoma in patients with ullrich-turner syndrome. ( 25535833 )
2015
17
Occurrence of Gonadoblastoma in Patients with 45,X/46,XY Mosaicism. ( 26046609 )
2015
18
Gonadoblastoma with Dysgerminoma in a Phenotypically Turner-Like Girl with 45,X/46,XY Karyotype. ( 26777047 )
2015
19
Dysgerminoma on a gonadoblastoma in a patient with Swyer syndrome treated with single incision laparoscopic surgery. ( 24960113 )
2014
20
The Y-located gonadoblastoma gene TSPY amplifies its own expression through a positive feedback loop in prostate cancer cells. ( 24583132 )
2014
21
Gonadoblastoma and hepatoid and endometrioid-like yolk sac tumor: an update. ( 24901396 )
2014
22
Gonadoblastoma: an immunohistochemical study and comparison to Sertoli cell nodule with intratubular germ cell neoplasia, with pathogenetic implications. ( 24766183 )
2014
23
Gonadoblastoma and selected other aspects of gonadal pathology in young patients with disorders of sex development. ( 25129544 )
2014
24
Analyses of Gonadoblastoma Y (GBY)-locus and of Y Centromere in Turner Syndrome Patients. ( 25314650 )
2014
25
46,XY female sex reversal syndrome with bilateral gonadoblastoma and dysgerminoma. ( 25187804 )
2014
26
Ovarian Gonadoblastoma with Dysgerminoma in a Young Girl with 46, XX Karyotype: A Case Report. ( 24179931 )
2013
27
Early presentation of bilateral gonadoblastoma in Turner syndrome. ( 23337547 )
2013
28
Expression of SALL4 and SF-1 in gonadoblastoma: useful markers in the identification of the invasive germ cell component. ( 23722510 )
2013
29
Early presentation of bilateral gonadoblastomas in a Denys-Drash syndrome patient: a cautionary tale for prophylactic gonadectomy. ( 23729537 )
2013
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
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
32
Gonadoblastoma in the ovaries of a lesser galago (Galago senegalensis braccatus). ( 22520808 )
2012
33
A 46,XY female DSD patient with bilateral gonadoblastoma, a novel SRY missense mutation combined with a WT1 KTS splice-site mutation. ( 22815844 )
2012
34
Prevalence of c-KIT mutations in gonadoblastoma and dysgerminomas of patients with disorders of sex development (DSD) and ovarian dysgerminomas. ( 22937135 )
2012
35
Gonadoblastoma: Case report of two young patients with isochromosome 12p found in the dysgerminoma overgrowth component in one case. ( 22906432 )
2012
36
Ovarian gonadoblastoma with dysgerminoma in a 15-year-old girl with 46, XX karyotype: case report and review of the literature. ( 21879333 )
2012
37
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
38
Testicular gonadoblastoma in two pet domestic rabbits (Oryctolagus cuniculus domesticus). ( 21908369 )
2011
39
Role of the Y-located putative gonadoblastoma gene in human spermatogenesis. ( 21204751 )
2011
40
Coexistence of gonadoblastoma and dysgerminoma in a dysgenetic gonad on touch preparation: a case report. ( 21162092 )
2011
41
Denys-Drash syndrome and gonadoblastoma in a patient with Klinefelter syndrome. ( 21552011 )
2011
42
FOXL2 and SOX9 distinguish the lineage of the sex cord-stromal cells in gonadoblastomas. ( 21682576 )
2011
43
Ovarian gonadoblastoma with dysgerminoma in a woman with 46XX karyotype. ( 21355962 )
2011
44
Frasier syndrome: early gonadoblastoma and cyclosporine responsiveness. ( 20419325 )
2010
45
Gonadoblastoma: an unusual ovarian tumor. ( 20637428 )
2010
46
Sertoli cell tumor with benign peritoneal implants associated with gonadoblastoma. ( 20736766 )
2010
47
Coexistence of a choriocarcinoma and a gonadoblastoma in the gonad of a 46,XY female: a single nucleotide polymorphism array analysis. ( 19425818 )
2010
48
Left ovarian gonadoblastoma with yolk sac tumor in a young woman. ( 20551554 )
2010
49
The chromosome Y-linked testis-specific protein locus TSPY1 is characteristically present in gonadoblastoma. ( 20656323 )
2010
50
Bilateral ovarian gonadoblastoma with coexisting dysgerminoma in a girl with 46, XX karyotype. ( 20598061 )
2010

Variations for Gonadoblastoma

Expression for Gonadoblastoma

Search GEO for disease gene expression data for Gonadoblastoma.

Pathways for Gonadoblastoma

GO Terms for Gonadoblastoma

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

(show all 13)
id 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 from RNA polymerase II promoter 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 sex differentiation GO:0007548 9.37 SRY TSPY1
9 male gonad development GO:0008584 9.33 KIT SOX9 WT1
10 male sex determination GO:0030238 9.26 SOX9 SRY
11 response to cadmium ion GO:0046686 9.13 CAT
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:

id Name GO ID Score Top Affiliating Genes
1 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding GO:0001077 9.13 FOXL2 SOX9 WT1
2 alkaline phosphatase activity GO:0004035 8.62 ALPP ALPPL2

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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