Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect
News and Views Disease Lists/Categories
About
About MalaCards Datasets Our Publications Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
GBY
MCID: GND001
MIFTS: 43

Gonadoblastoma (GBY)

Categories: Cancer diseases, Rare diseases, Reproductive diseases
Genes Tissues Related diseases Publications Pathways Symptoms & Phenotypes
Sources

Aliases & Classifications for Gonadoblastoma

About this section

MalaCards integrated aliases for Gonadoblastoma:

Name: Gonadoblastoma 57 12 58 54 44 15 70
Gby 57

Characteristics:

Orphanet epidemiological data:

58
gonadoblastoma
Age of onset: Adolescent;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
y-linked (pericentromeric vs. yq)


HPO:

31
gonadoblastoma:
Inheritance y-linked inheritance


Classifications:

MalaCards categories:
Global: Cancer diseases Rare diseases
Anatomical: Reproductive diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare gynaecological and obstetric diseases
Rare urogenital diseases


External Ids:

Disease Ontology 12 DOID:3301
OMIM® 57 424500
MeSH 44 D018238
NCIt 50 C3754
SNOMED-CT 67 74751003
ICD10 via Orphanet 33 D39.1
Orphanet 58 ORPHA206484
MedGen 41 C0206661
UMLS 70 C0206661
Sources

Summaries for Gonadoblastoma

About this section
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 Mesenchymal Stem Cell Differentiation Pathways 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 : 73 A gonadoblastoma is a complex neoplasm composed of a mixture of gonadal elements, such as large... more...

More information from OMIM: 424500
Sources

Related Diseases for Gonadoblastoma

About this section

Diseases related to Gonadoblastoma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 141)
# Related Disease Score Top Affiliating Genes
1 testicular gonadoblastoma 32.1 KIT AMH
2 frasier syndrome 31.7 WT1 SRY SOX9 NR5A1
3 ovarian gonadoblastoma 31.3 WT1 SOX9 POU5F1 KIT DMRT1
4 dysgerminoma 31.1 WT1 SRY KIT ALPP ALPG
5 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 31.1 WT1 NR5A1 DMRT3 DMRT1
6 mixed germ cell tumor 30.8 KIT CGB3
7 turner syndrome 30.7 TSPY1 SRY CGB3 AMH
8 testicular seminoma 30.5 TSPY1 CGB3
9 endodermal sinus tumor 30.5 CGB5 CGB3 ALPP ALPG
10 choriocarcinoma 30.4 CGB5 CGB3 ALPP ALPG
11 hypospadias 30.0 WT1 SRY SOX9 NR5A1
12 sertoli cell tumor 29.9 WT1 NR5A1 ALPP
13 pseudohermaphroditism 29.9 WT1 SRY SOX9 NR5A1 AMH
14 complete androgen insensitivity syndrome 29.8 SRY ALPG
15 hermaphroditism 29.8 SRY SOX9 FOXL2 DMRT1 AMH
16 germinoma 29.7 POU5F1 KIT CGB5 CGB3 ALPP
17 androgen insensitivity syndrome 29.7 SRY NR5A1 AMH ALPG
18 dysgerminoma of ovary 29.6 POU5F1 KIT ALPP
19 mixed gonadal dysgenesis 29.6 SRY SOX9 NR5A1 KIT FOXL2 CGB5
20 germ cell cancer 29.5 POU5F1 KIT DMRT1 ALPP ALPG
21 malignant teratoma 29.4 POU5F1 KIT CGB5
22 seminoma 29.4 TSPY1 POU5F1 KIT DMRT1 CGB5 CGB3
23 disorder of sexual development 29.4 WT1 SOX9 NR5A1 FOXL2 DMRT1 AMH
24 embryonal carcinoma 29.3 POU5F1 NR5A1 KIT CGB5 CGB3 ALPG
25 46,xy sex reversal 29.3 WT1 SRY SOX9 NR5A1 FOXL2 DMRT3
26 teratoma 29.1 POU5F1 KIT DMRT1 CGB5 CGB3 AMH
27 gonadal dysgenesis 28.8 WT1 SRY SOX9 POU5F1 NR5A1 KIT
28 campomelic dysplasia 28.8 SRY SOX9 NR5A1 FOXL2 DMRT1 AMH
29 cryptorchidism, unilateral or bilateral 27.9 WT1 SOX9 POU5F1 NR5A1 KIT DMRT1
30 amenorrhea 10.5
31 germ cells tumors 10.4
32 46,xy sex reversal 1 10.4
33 small intestinal sarcoma 10.3 WT1 KIT
34 colon leiomyosarcoma 10.3 WT1 KIT
35 partial deletion of y 10.3 TSPY1 RBMY1A1
36 ovarian mixed germ cell neoplasm 10.3 WT1 KIT
37 hypereosinophilic syndrome, idiopathic 10.3 WT1 KIT
38 mediastinum seminoma 10.3 KIT ALPP
39 corpus luteum cyst 10.3 FOXL2 CGB5
40 juvenile type testicular granulosa cell tumor 10.3 WT1 FOXL2
41 aniridia 1 10.3
42 testicular yolk sac tumor 10.3
43 in situ carcinoma 10.3
44 47,xyy 10.3
45 testicular granulosa cell tumor 10.3 WT1 FOXL2
46 liver leiomyosarcoma 10.3 WT1 KIT
47 dentin caries 10.2 ALPP ALPG
48 overgrowth syndrome 10.2
49 core binding factor acute myeloid leukemia 10.2 WT1 KIT
50 seminal vesicle adenocarcinoma 10.2 WT1 KIT

Graphical network of the top 20 diseases related to Gonadoblastoma:



Diseases related to Gonadoblastoma
Sources

Symptoms & Phenotypes for Gonadoblastoma

About this section

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 the ovary 58 Very frequent (99-80%)
12 gonadoblastoma 31 HP:0000150
13 abnormality of metabolism/homeostasis 31 HP:0001939

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Oncology:
gonadoblastoma risk

Lab:
presence of y-chromosomal material

G U:
phenotypic females with dysgenetic gonads

Clinical features from OMIM®:

424500 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Gonadoblastoma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 reproductive system MP:0005389 9.36 ALPG AMH DMRT1 DMRT3 FOXL2 KIT
Sources

Drugs & Therapeutics for Gonadoblastoma

About this section

Search Clinical Trials , NIH Clinical Center for Gonadoblastoma

Cochrane evidence based reviews: gonadoblastoma

Sources

Genetic Tests for Gonadoblastoma

About this section
Sources

Anatomical Context for Gonadoblastoma

About this section

MalaCards organs/tissues related to Gonadoblastoma:

40
Ovary, Testis, Breast, Prostate, Kidney, Lymph Node, Uterus
Sources

Publications for Gonadoblastoma

About this section

Articles related to Gonadoblastoma:

(show top 50) (show all 755)
# Title Authors PMID Year
1
Occurrence of gonadoblastoma in females with Turner syndrome and Y chromosome material: a population study. 57 61
10999808 2000
2
Gonadoblastoma: molecular definition of the susceptibility region on the Y chromosome. 57 61
8533770 1995
3
Molecular mapping of the putative gonadoblastoma locus on the Y chromosome. 61 57
8589038 1995
4
Minute Y chromosome derived marker in a child with gonadoblastoma: cytogenetic and DNA studies. 61 57
1518023 1992
5
Hypothesis: a Y-chromosomal gene causes gonadoblastoma in dysgenetic gonads. 61 57
3503713 1987
6
Abnormal sexual differentiation and neoplasia. 57
3548944 1987
7
Bilateral gonadoblastoma with dysgerminoma and pilocytic astrocytoma with WT1 GT-IVS9 mutation: A 46 XY phenotypic female with Frasier syndrome. 54 61
19653292 2009
8
A novel SRY missense mutation affecting nuclear import in a 46,XY female patient with bilateral gonadoblastoma. 54 61
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. 54 61
17493621 2007
12
Testis-specific protein Y-encoded gene is expressed in early and late stages of gonadoblastoma and testicular carcinoma in situ. 54 61
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. 61 54
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. 61 54
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. 54 61
10614539 1999
23
Mother-to-child transmitted WT1 splice-site mutation is responsible for distinct glomerular diseases. 61 54
10505700 1999
24
A Japanese case with Frasier syndrome caused by the splice junction mutation of WT1 gene. 61 54
10670748 1999
25
Gonadoblastoma, testicular and prostate cancers, and the TSPY gene. 54 61
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. 61 54
9388060 1997
28
Supernumerary marker chromosomes (SMCs) in Turner syndrome are mostly derived from the Y chromosome. 61 54
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. 61 54
7814028 1995
30
[Study of sex determination gene (SRY) in 46,XY gonadal dysgenesis]. 54 61
8085778 1994
31
Amenorrhoea with XY karyotype postbone marrow transplant. 61
33547101 2021
32
Growth and relationship of phenotypic characteristics with gonadal pathology and tumour risk in patients with 45, X/46, XY mosaicism. 61
33550653 2021
33
A rare case of primary amenorrhoea and breast development in a 46,XY 15-year-old girl. 61
33599439 2021
34
Gonadoblastoma versus ovarian mixed germ cell-sex cord stromal tumor in women or girls with no evidence of a disorder of sex development: A problem in differential diagnosis. 61
33002849 2020
35
Gonadal dysgenesis in Turner syndrome with Y-chromosome mosaicism: Two case reports. 61
33344568 2020
36
Dysgerminoma in a Prepubertal Girl with Complete 46XY Gonadal Dysgenesis: Case Report and Review of the Literature. 61
32380037 2020
37
Added value of buccal cell FISH analysis in the diagnosis and management of Turner syndrome. 61
32810206 2020
38
Syndromic Wilms tumor: a review of predisposing conditions, surveillance and treatment. 61
33209710 2020
39
Unusual Presentation of a Denys-Drash Syndrome Girl with Undisclosed Assumption of Biotin. 61
32840097 2020
40
Neoplasia in Turner syndrome: a retrospective cohort study in a tertiary referral centre in Belgium. 61
32780684 2020
41
Gonadoblastoma in individuals with a normal karyotype and no evidence of a disorder of sex development. 61
32616344 2020
42
46, XY disorder of sex development (DSD) complicated by a serous borderline tumor of the ovary: a case report and review of the literature. 61
32703224 2020
43
Unclassified Mixed Germ Cell-Sex Cord-Stromal Tumor of the Ovary: An Unusual Case Report. 61
32850222 2020
44
Seminoma with focal gonadoblastoma in anatomically normal male: A rare case report. 61
32769344 2020
45
Bilateral Gonadoblastoma With Dysgerminoma in a Phenotypically Normal Female With 46XX Karyotype: Report of a Rare Case and Literature Review. 61
32775072 2020
46
46, XY complete gonadal dysgenesis with pubertal virilisation due to dysgerminoma/gonadoblastoma. 61
32641439 2020
47
Gonadoblastoma: origin and outcome. 61
31805291 2020
48
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
49
Disorder of sex development with germ cell tumors: Which is uncovered first? 61
32020769 2020
50
WT1 Disorder 61
32352694 2020
Sources

Variations for Gonadoblastoma

About this section
Sources

Expression for Gonadoblastoma

About this section
Search GEO for disease gene expression data for Gonadoblastoma.
Sources

GO Terms for Gonadoblastoma

About this section

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

# Name GO ID Score Top Affiliating Genes
1 chromatin GO:0000785 9.32 WT1 TSPYL2 TSPY1 SRY SOX9 POU5F1

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

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 10.1 WT1 SRY SOX9 POU5F1 NR5A1 FOXL2
2 regulation of transcription by RNA polymerase II GO:0006357 10.1 WT1 SOX9 POU5F1 NR5A1 KIT FOXL2
3 cell differentiation GO:0030154 10.03 TSPY1 SRY SOX9 NR5A1 FOXL2 DMRT3
4 positive regulation of gene expression GO:0010628 9.91 WT1 SRY SOX9 POU5F1 NR5A1 KIT
5 nucleosome assembly GO:0006334 9.77 TSPYL2 TSPY1 SOX9
6 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.76 SOX9 KIT CAT
7 somatic stem cell population maintenance GO:0035019 9.72 SOX9 POU5F1 KIT
8 hormone-mediated signaling pathway GO:0009755 9.69 NR5A1 CGB5 CGB3
9 male gonad development GO:0008584 9.65 WT1 SOX9 NR5A1 KIT DMRT1
10 female gamete generation GO:0007292 9.62 CGB5 CGB3
11 peptide hormone processing GO:0016486 9.61 CGB5 CGB3
12 adrenal gland development GO:0030325 9.61 WT1 NR5A1
13 negative regulation of pri-miRNA transcription by RNA polymerase II GO:1902894 9.59 SOX9 POU5F1
14 gonad development GO:0008406 9.58 WT1 AMH
15 Sertoli cell development GO:0060009 9.57 SOX9 DMRT1
16 gonadal mesoderm development GO:0007506 9.56 TSPY1 AMH
17 Sertoli cell differentiation GO:0060008 9.54 SOX9 DMRT1
18 germ cell migration GO:0008354 9.52 KIT DMRT1
19 sex determination GO:0007530 9.5 WT1 NR5A1 AMH
20 negative regulation of female gonad development GO:2000195 9.48 WT1 NR5A1
21 male sex differentiation GO:0046661 9.46 DMRT3 DMRT1
22 male sex determination GO:0030238 9.46 SRY SOX9 NR5A1 DMRT1
23 sex differentiation GO:0007548 9.35 TSPY1 SRY DMRT3 DMRT1 AMH
24 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 transcription factor activity, RNA polymerase II-specific GO:0000981 9.86 WT1 SRY SOX9 POU5F1 NR5A1 FOXL2
2 chromatin binding GO:0003682 9.8 TSPYL2 TSPY1 SOX9 NR5A1 DMRT1
3 sequence-specific double-stranded DNA binding GO:1990837 9.8 SOX9 POU5F1 NR5A1 FOXL2 DMRT3 DMRT1
4 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.76 WT1 SRY SOX9 POU5F1 NR5A1 FOXL2
5 hormone activity GO:0005179 9.63 CGB5 CGB3 AMH
6 proximal promoter sequence-specific DNA binding GO:0000987 9.61 SOX9 POU5F1 DMRT1
7 sequence-specific DNA binding GO:0043565 9.5 WT1 SOX9 POU5F1 NR5A1 FOXL2 DMRT3
8 alkaline phosphatase activity GO:0004035 9.37 ALPP ALPG
9 DNA-binding transcription factor activity GO:0003700 9.23 WT1 SRY SOX9 POU5F1 NR5A1 FOXL2
Sources

Sources for Gonadoblastoma

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
Content
Loading form....