GBY
MCID: GND001
MIFTS: 44

Gonadoblastoma (GBY)

Categories: Cancer diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Gonadoblastoma

MalaCards integrated aliases for Gonadoblastoma:

Name: Gonadoblastoma 56 12 58 54 43 15 71
Gby 56

Characteristics:

Orphanet epidemiological data:

58
gonadoblastoma
Age of onset: Adolescent;

OMIM:

56
Inheritance:
y-linked (pericentromeric vs. yq)


HPO:

31
gonadoblastoma:
Inheritance y-linked inheritance


Classifications:

Orphanet: 58  
Rare gynaecological and obstetric diseases
Rare urogenital diseases


External Ids:

Disease Ontology 12 DOID:3301
OMIM 56 424500
MeSH 43 D018238
NCIt 49 C3754
SNOMED-CT 67 74751003
ICD10 via Orphanet 33 D39.1
Orphanet 58 ORPHA206484
MedGen 41 C0206661
UMLS 71 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 ovarian gonadoblastoma. An important gene associated with Gonadoblastoma is TSPY1 (Testis Specific Protein Y-Linked 1), and among its related pathways/superpathways are Mesenchymal Stem Cells and Lineage-specific Markers and Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors. Affiliated tissues include ovary, testis and breast, and related phenotypes are female external genitalia in individual with 46,xy karyotype and ovarian gonadoblastoma

Wikipedia : 74 A gonadoblastoma is a complex neoplasm composed of a mixture of gonadal elements, such as large... more...

More information 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 146)
# Related Disease Score Top Affiliating Genes
1 testicular gonadoblastoma 33.8 WT1 KIT AMH
2 ovarian gonadoblastoma 32.8 WT1 SOX9 POU5F1 KIT DMRT1
3 frasier syndrome 32.5 WT1 SRY SOX9 NR5A1
4 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 32.5 WT1 NR5A1 DMRT3 DMRT1
5 46,xy sex reversal 1 31.5 SRY SOX9
6 mixed germ cell tumor 31.2 KIT CGB3
7 testicular seminoma 30.9 TSPY1 CGB3
8 turner syndrome 30.9 TSPY1 SRY CGB3 AMH
9 choriocarcinoma 30.6 CGB5 CGB3 ALPP ALPG
10 mixed germ cell-sex cord neoplasm 30.5 KIT DMRT1
11 endodermal sinus tumor 30.4 POU5F1 KIT CGB3
12 complete androgen insensitivity syndrome 30.2 SRY ALPG
13 pseudohermaphroditism 30.1 WT1 SRY NR5A1 AMH
14 hypospadias 30.1 WT1 SRY SOX9 NR5A1
15 hermaphroditism 30.1 SRY SOX9 FOXL2 DMRT1 AMH
16 sertoli cell tumor 30.0 WT1 NR5A1 ALPP
17 wilms tumor 1 30.0 WT1 SRY SOX9 NR5A1 KIT
18 androgen insensitivity syndrome 29.9 SRY NR5A1 AMH
19 dysgerminoma of ovary 29.9 POU5F1 KIT
20 campomelic dysplasia 29.9 SRY SOX9 NR5A1
21 germinoma 29.8 POU5F1 KIT CGB5 CGB3 ALPP
22 dysgerminoma 29.7 WT1 SRY POU5F1 KIT FOXL2 DMRT1
23 mixed gonadal dysgenesis 29.6 SRY SOX9 NR5A1 KIT FOXL2 CGB5
24 malignant teratoma 29.6 POU5F1 KIT CGB5
25 germ cell cancer 29.4 POU5F1 KIT DMRT1 ALPP ALPG
26 embryonal carcinoma 29.4 POU5F1 NR5A1 KIT CGB3 ALPG
27 disorders of sexual development 29.3 WT1 SOX9 NR5A1 FOXL2 DMRT1 AMH
28 seminoma 29.2 TSPY1 POU5F1 KIT DMRT1 CGB5 CGB3
29 teratoma 29.1 POU5F1 KIT DMRT1 CGB5 CGB3 AMH
30 46,xy sex reversal 29.1 WT1 SRY SOX9 NR5A1 FOXL2 DMRT3
31 gonadal dysgenesis 28.4 WT1 SRY SOX9 POU5F1 NR5A1 KIT
32 cryptorchidism, unilateral or bilateral 27.7 WT1 SOX9 POU5F1 NR5A1 KIT DMRT1
33 amenorrhea 10.7
34 germ cells tumors 10.6
35 wilms tumor 5 10.5
36 in situ carcinoma 10.4
37 47,xyy 10.4
38 aniridia 1 10.4
39 testicular yolk sac tumor 10.4
40 overgrowth syndrome 10.4
41 corpus luteum cyst 10.4 FOXL2 CGB5
42 uterine sarcoma 10.4 WT1 KIT
43 mediastinum seminoma 10.4 KIT ALPP
44 colon leiomyosarcoma 10.3 WT1 KIT
45 pericholangitis 10.3 ALPP ALPG
46 46, xy disorders of sexual development 10.3
47 ovarian mixed germ cell neoplasm 10.3 WT1 KIT
48 juvenile type testicular granulosa cell tumor 10.3 WT1 FOXL2
49 hypereosinophilic syndrome, idiopathic 10.3 WT1 KIT
50 testicular granulosa cell tumor 10.3 WT1 FOXL2

Graphical network of the top 20 diseases related to Gonadoblastoma:



Diseases related to Gonadoblastoma

Symptoms & Phenotypes for Gonadoblastoma

Human phenotypes related to Gonadoblastoma:

58 31 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 female external genitalia in individual with 46,xy karyotype 58 31 hallmark (90%) Very frequent (99-80%) HP:0008730
2 ovarian gonadoblastoma 58 31 hallmark (90%) Very frequent (99-80%) HP:0000149
3 gonadal dysgenesis with female appearance, male 58 31 frequent (33%) Frequent (79-30%) HP:0008723
4 gonadal calcification 58 31 frequent (33%) Frequent (79-30%) HP:0008703
5 dysgerminoma 58 31 frequent (33%) Frequent (79-30%) HP:0100621
6 abdominal pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0002027
7 ambiguous genitalia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000062
8 hirsutism 58 31 occasional (7.5%) Occasional (29-5%) HP:0001007
9 abdominal distention 58 31 occasional (7.5%) Occasional (29-5%) HP:0003270
10 increased serum testosterone level 58 31 occasional (7.5%) Occasional (29-5%) HP:0030088
11 abnormality of metabolism/homeostasis 31 HP:0001939
12 abnormality of the ovary 58 Very frequent (99-80%)
13 gonadoblastoma 31 HP:0000150

Symptoms via clinical synopsis from OMIM:

56
Oncology:
gonadoblastoma risk

Lab:
presence of y-chromosomal material

G U:
phenotypic females with dysgenetic gonads

Clinical features from OMIM:

424500

GenomeRNAi Phenotypes related to Gonadoblastoma according to GeneCards Suite gene sharing:

26 (show all 17)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-102 9.62 KIT
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-147 9.62 IRF1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-152 9.62 DMRT3 IRF1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 9.62 KIT
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-167 9.62 DMRT3
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.62 IRF1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-18 9.62 IRF1 KIT
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-23 9.62 WT1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-29 9.62 IRF1
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-32 9.62 IRF1
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-33 9.62 IRF1
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 9.62 IRF1
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-35 9.62 DMRT3 WT1
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-42 9.62 KIT
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-6 9.62 IRF1
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-85 9.62 IRF1
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-95 9.62 IRF1

MGI Mouse Phenotypes related to Gonadoblastoma:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.91 AMH DMRT1 FOXL2 IRF1 KIT NR5A1
2 neoplasm MP:0002006 9.63 AMH CAT IRF1 KIT TSPYL2 WT1
3 normal MP:0002873 9.56 ALPG FOXL2 IRF1 KIT NR5A1 POU5F1
4 reproductive system MP:0005389 9.36 ALPG AMH DMRT1 DMRT3 FOXL2 KIT

Drugs & Therapeutics for Gonadoblastoma

Search Clinical Trials , NIH Clinical Center for Gonadoblastoma

Cochrane evidence based reviews: gonadoblastoma

Genetic Tests for Gonadoblastoma

Anatomical Context for Gonadoblastoma

MalaCards organs/tissues related to Gonadoblastoma:

40
Ovary, Testis, Breast, Prostate, Testes, Kidney, Lymph Node

Publications for Gonadoblastoma

Articles related to Gonadoblastoma:

(show top 50) (show all 739)
# Title Authors PMID Year
1
Occurrence of gonadoblastoma in females with Turner syndrome and Y chromosome material: a population study. 56 61
10999808 2000
2
Gonadoblastoma: molecular definition of the susceptibility region on the Y chromosome. 56 61
8533770 1995
3
Molecular mapping of the putative gonadoblastoma locus on the Y chromosome. 56 61
8589038 1995
4
Minute Y chromosome derived marker in a child with gonadoblastoma: cytogenetic and DNA studies. 56 61
1518023 1992
5
Hypothesis: a Y-chromosomal gene causes gonadoblastoma in dysgenetic gonads. 61 56
3503713 1987
6
Abnormal sexual differentiation and neoplasia. 56
3548944 1987
7
Bilateral gonadoblastoma with dysgerminoma and pilocytic astrocytoma with WT1 GT-IVS9 mutation: A 46 XY phenotypic female with Frasier syndrome. 61 54
19653292 2009
8
A novel SRY missense mutation affecting nuclear import in a 46,XY female patient with bilateral gonadoblastoma. 61 54
19513096 2009
9
SRY gene increases the risk of developing gonadoblastoma and/or nontumoral gonadal lesions in Turner syndrome. 61 54
19188812 2009
10
TSPY expression is variably altered in transgenic mice with testicular feminization. 61 54
18401008 2008
11
Primary amenorrhea in a 46,XY adolescent girl with partial gonadal dysgenesis: identification of a new SRY gene mutation. 61 54
17493621 2007
12
Testis-specific protein Y-encoded gene is expressed in early and late stages of gonadoblastoma and testicular carcinoma in situ. 61 54
17349529 2007
13
Ovarian dysgerminomas are characterised by frequent KIT mutations and abundant expression of pluripotency markers. 61 54
17274819 2007
14
New evidence for the origin of intracranial germ cell tumours from primordial germ cells: expression of pluripotency and cell differentiation markers. 61 54
16456896 2006
15
CK2-dependent C-terminal phosphorylation at T300 directs the nuclear transport of TSPY protein. 61 54
16426576 2006
16
Gonadoblastoma: evidence for a stepwise progression to dysgerminoma in a dysgenetic ovary. 54 61
15968543 2005
17
Prevalence of WT1 mutations in a large cohort of patients with steroid-resistant and steroid-sensitive nephrotic syndrome. 54 61
15253707 2004
18
TSPY, the candidate gonadoblastoma gene on the human Y chromosome, has a widely expressed homologue on the X - implications for Y chromosome evolution. 61 54
15241014 2004
19
A girl with bilateral ovarian tumours: Frasier syndrome. 54 61
11954756 2002
20
WT1 splice-site mutations are rarely associated with primary steroid-resistant focal and segmental glomerulosclerosis. 54 61
10792605 2000
21
Detection of TSPY protein in a unilateral microscopic gonadoblastoma of a Turner mosaic patient with a Y-derived marker chromosome. 54 61
10629567 1999
22
Ullrich-Turner syndrome: relevance of searching for Y chromosome fragments. 61 54
10614539 1999
23
A Japanese case with Frasier syndrome caused by the splice junction mutation of WT1 gene. 54 61
10670748 1999
24
Mother-to-child transmitted WT1 splice-site mutation is responsible for distinct glomerular diseases. 54 61
10505700 1999
25
Gonadoblastoma, testicular and prostate cancers, and the TSPY gene. 61 54
10090875 1999
26
Y-chromosome identification by PCR and gonadal histopathology in Turner's syndrome without overt Y-mosaicism. 61 54
10341852 1999
27
Gonadoblastoma: immunohistochemical localization of Müllerian-inhibiting substance, inhibin, WT-1, and p53. 54 61
9388060 1997
28
Supernumerary marker chromosomes (SMCs) in Turner syndrome are mostly derived from the Y chromosome. 54 61
9137884 1997
29
XY gonadal dysgenesis and gonadoblastoma: a study in two sisters with a cryptic deletion of the Y chromosome involving the SRY gene. 54 61
7814028 1995
30
[Study of sex determination gene (SRY) in 46,XY gonadal dysgenesis]. 61 54
8085778 1994
31
Seminoma In A Young Phenotypic Female With Turner Syndrome 45,XO/46,XY Mosaicism: A Case Report With Review Of The Literature. 61
32057790 2020
32
Dysgerminoma in a Prepubertal Girl with Complete 46XY Gonadal Dysgenesis: Case Report and Review of the Literature. 61
32380037 2020
33
WT1 Disorder 61
32352694 2020
34
Disorder of sex development with germ cell tumors: Which is uncovered first? 61
32020769 2020
35
Variation of Gonadal Dysgenesis and Tumor Risk in Patients With 45,X/46,XY Mosaicism. 61
31883875 2020
36
[Analysis of solid ovarian tumours in a Spanish paediatric population]. 61
30975583 2020
37
Turner Syndrome with Y Chromosome: Spontaneous Thelarche, Menarche, and Risk of Malignancy. 61
31465855 2020
38
Long-term outcome in a case series of Denys-Drash syndrome. 61
31807296 2019
39
Gonadoblastoma: origin and outcome. 61
31805291 2019
40
Atypical Presentation of Swyer Syndrome. 61
31356871 2019
41
Telomeric association between chromosomes Y and 19 in a mosaic Turner with primary ovarian insufficiency. 61
31456265 2019
42
EARLY-ONSET GONADOBLASTOMA IN A 13-MONTH-OLD INFANT WITH 46,XY COMPLETE GONADAL DYSGENESIS IDENTIFIED WITH PRENATAL TESTING: A CASE OF CHROMOSOME 9p DELETION. 61
31967076 2019
43
Classic and "Dissecting" Gonadoblastoma in a Phenotypic Girl With a 46, XX Peripheral Karyotype and No Evidence of a Disorder of Sex Development. 61
30252730 2019
44
Usefulness of imprint cytology of gonadoblastoma with dysgerminoma in a patient with Turner syndrome and a Y chromosome: A case report and literature review. 61
31336030 2019
45
Dysgerminoma in a 10-Year Old with 45X/46XY Turner Syndrome Mosaicism. 61
31279777 2019
46
Predicting Gonadal Germ Cell Cancer in People with Disorders of Sex Development; Insights from Developmental Biology. 61
31658757 2019
47
Gonadoblastoma-Associated Mixed Gonadal Germ Cell Tumor with Dysgerminoma and Hepatoid Yolk Sac Tumor Components in 46XY Gonadal Dysgenesis. 61
31175959 2019
48
Canine ovarian gonadoblastoma with dysgerminoma overgrowth: a case study and literature review. 61
31547830 2019
49
Early Bilateral Gonadoblastoma Associated With 45,X/46,XY Mosaicism: The Spectrum of Undifferentiated Gonadal Tissue and Gonadoblastoma in the First Months of Life. 61
30646821 2019
50
A Rare Case of Swyer Syndrome in Two Sisters with Successful Pregnancy Outcome in Both. 61
31576088 2019

Variations for Gonadoblastoma

Expression for Gonadoblastoma

Search GEO for disease gene expression data for Gonadoblastoma.

GO Terms for Gonadoblastoma

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

# Name GO ID Score Top Affiliating Genes
1 nuclear chromatin GO:0000790 9.23 SRY SOX9 POU5F1 NR5A1 IRF1 FOXL2

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 10.11 WT1 SRY SOX9 POU5F1 NR5A1 IRF1
2 positive regulation of transcription by RNA polymerase II GO:0045944 10.08 WT1 SRY SOX9 POU5F1 NR5A1 IRF1
3 negative regulation of transcription by RNA polymerase II GO:0000122 10.06 WT1 SRY SOX9 POU5F1 FOXL2 DMRT1
4 cell differentiation GO:0030154 10.02 TSPY1 SRY SOX9 POU5F1 NR5A1 FOXL2
5 positive regulation of transcription, DNA-templated GO:0045893 10 WT1 SRY SOX9 NR5A1 IRF1 FOXL2
6 positive regulation of gene expression GO:0010628 9.98 WT1 SRY SOX9 POU5F1 NR5A1 KIT
7 regulation of transcription by RNA polymerase II GO:0006357 9.91 WT1 SOX9 POU5F1 NR5A1 KIT FOXL2
8 nucleosome assembly GO:0006334 9.79 TSPYL2 TSPY1 SOX9
9 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.77 SOX9 KIT CAT
10 somatic stem cell population maintenance GO:0035019 9.74 SOX9 POU5F1 KIT
11 male gonad development GO:0008584 9.72 WT1 SOX9 NR5A1 KIT DMRT1
12 hormone-mediated signaling pathway GO:0009755 9.71 NR5A1 CGB5 CGB3
13 peptide hormone processing GO:0016486 9.62 CGB5 CGB3
14 negative regulation of pri-miRNA transcription by RNA polymerase II GO:1902894 9.61 SOX9 POU5F1
15 gonad development GO:0008406 9.61 WT1 AMH
16 Sertoli cell development GO:0060009 9.59 SOX9 DMRT1
17 gonadal mesoderm development GO:0007506 9.58 TSPY1 AMH
18 sex determination GO:0007530 9.58 WT1 NR5A1 AMH
19 Sertoli cell differentiation GO:0060008 9.56 SOX9 DMRT1
20 germ cell migration GO:0008354 9.55 KIT DMRT1
21 male sex differentiation GO:0046661 9.51 DMRT3 DMRT1
22 negative regulation of female gonad development GO:2000195 9.49 WT1 NR5A1
23 male sex determination GO:0030238 9.46 SRY SOX9 NR5A1 DMRT1
24 sex differentiation GO:0007548 9.35 TSPY1 SRY DMRT3 DMRT1 AMH
25 positive regulation of male gonad development GO:2000020 9.02 WT1 SRY SOX9 NR5A1 DMRT1

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 10.02 WT1 SRY SOX9 POU5F1 NR5A1 IRF1
2 chromatin binding GO:0003682 9.8 TSPYL2 TSPY1 SOX9 NR5A1 DMRT1
3 transcription regulatory region sequence-specific DNA binding GO:0000976 9.76 WT1 SOX9 POU5F1 NR5A1
4 sequence-specific DNA binding GO:0043565 9.76 WT1 SOX9 POU5F1 NR5A1 IRF1 FOXL2
5 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.73 WT1 SOX9 POU5F1 IRF1 FOXL2 DMRT1
6 hormone activity GO:0005179 9.65 CGB5 CGB3 AMH
7 proximal promoter sequence-specific DNA binding GO:0000987 9.61 SOX9 POU5F1 DMRT1
8 DNA-binding transcription factor activity GO:0003700 9.61 WT1 SRY SOX9 POU5F1 NR5A1 IRF1
9 alkaline phosphatase activity GO:0004035 9.32 ALPP ALPG
10 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.28 WT1 SRY SOX9 POU5F1 NR5A1 IRF1

Sources for Gonadoblastoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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