Gonadoblastoma malady

Wikipedia: A gonadoblastoma is a complex neoplasm composed of a mixture of gonadal elements, such as large...⁴⁴ more...

MalaCards: Gonadoblastoma, also known as gonadoblastoma (morphologic abnormality), is related to gonadal dysgenesis and swyer syndrome. An important gene associated with Gonadoblastoma is TSPY1 (testis specific protein, Y-linked 1), and among its related pathways are Human Early Embryo Development and Selected targets of Oct-3/4. The compounds dmrt and 7,8-dihydroneopterin have been mentioned in the context of this disorder. Affiliated tissues include ovary, prostate and testis.

Disease Ontology: A cell type benign neoplasm that is composed of a mixture of gonadal elements.⁶

Aliases & Descriptions:

gonadoblastoma 6 8 32 43 gonadoblastoma (morphologic abnormality) 6

Diseases related to gonadoblastoma by text searches and GeneDecks gene sharing:

(show top 50)    (show all 91)

id	Related Disease	Score	Top Affiliating Genes
1	gonadal dysgenesis	28.3	ZFY, CGB, DMRT3, SRY, WT1, TSPY1
2	swyer syndrome	27.8	SRY, CGB
3	amenorrhea	27.3	WT1, SLC25A10, SRY, FOXL2, ALPP
4	dysgerminoma	26.9	KIT, CGB, ALPP, POU5F1, TSPY3, TSPY10
5	seminoma	26.5	NANOG, CGB, ALPP, ALPPL2, TSPY1, POU5F1
6	choriocarcinoma	25.6	ALPP, CGB, IRF1, SRY, CAT, ALPPL2
7	prostatitis	22.9	POU5F1B, ALPP, IRF1, CGB, ZFY, NANOG
8	common bile duct disease	13.6	ALPPL2, ALPP
9	luteoma	13.6	TSPY1, SRY
10	dysgerminoma of ovary	13.6	ALPP, KIT
11	mesoblastic nephroma	13.6	WT1, KIT
12	testicular neoplasm	13.5	ALPPL2, KIT, ALPP
13	sertoli-leydig cell tumor	13.5	WT1, ALPP, SRY
14	hypereosinophilic syndrome	13.5	KIT, WT1
15	desmoplastic small round cell tumor	13.4	WT1, ALPP, KIT
16	y chromosome infertility	13.4	CDY1, RBMY1A1
17	thymic carcinoma	13.4	ALPP, WT1, KIT
18	46, xy disorders of sex development	13.4	WT1, SRY
19	cryptorchidism	13.3	WT1, SRY, ALPP, ALPPL2
20	xy sex reversal	13.3	TSPY1, SRY, DMRT3, ZFY
21	pseudohermaphroditism	13.2	ZFY, ALPP, SRY, WT1
22	disorders of sex development	13.2	FOXL2, SRY, WT1, TSPY1
23	endodermal sinus tumor	13.2	CGB, ALPP, ALPPL2
24	mature teratoma	13.2	ALPP, CGB
25	clear cell chondrosarcoma	13.2	ALPP, RB1
26	bilateral retinoblastoma	13.1	WT1, RB1
27	mixed gonadal dysgenesis	13.1	SRY, WT1
28	desmoid tumor	13.1	KIT, RB1, WT1
29	placental site trophoblastic tumor	13.0	ALPP, CGB
30	sertoli cell tumor	13.0	ALPP, KIT, CGB, WT1
31	adrenal hyperplasia	13.0	CGB, SRY, ALPPL2, ALPP
32	moebius syndrome	13.0	SRY, FOXL2
33	smooth muscle tumor	13.0	WT1, KIT, RB1
34	mediastinitis	13.0	ALPP, KIT, CGB, ALPPL2
35	testicular cancer	12.9	CGB, ALPPL2, ALPP, WT1
36	leydig cell tumor	12.9	ALPP, SRY, CGB, KIT, WT1
37	frasier syndrome	12.9	WT1, SRY
38	angiomyolipoma	12.9	ALPP, RB1, KIT
39	blastoma	12.7	CGB, RB1, WT1
40	central nervous system germinoma	12.7	ALPP, POU5F1, CGB
41	primary hyperoxaluria	12.7	CAT, ALPP, ALPPL2, WT1
42	male infertility	12.6	CAT, RBMY1A1, TSPY1, SRY
43	carcinoid tumors	12.6	CGB, IRF1, ALPP, ALPPL2
44	leiomyosarcoma	12.6	RB1, CGB, KIT, WT1
45	turner syndrome	12.6	RPS4Y1, SLC25A10, TSPY1, SRY, CGB
46	sex reversal	12.6	ZFY, PRKY, TSPY1, WT1, SRY, DMRT3
47	germinoma	12.4	ALPP, POU5F1, CGB, KIT, TSPY1
48	down syndrome	12.1	CGB, RB1, POU5F1
49	hyperthyroidism	12.1	CAT, CGB, ALPP, ALPPL2
50	thalassemia	12.0	WT1, CAT, CGB, ALPP

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to gonadoblastoma:

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Articles related to gonadoblastoma:

(show all 23)

id	Title	Authors	Year	Affiliating Genes
1	Role of the Y-located putative gonadoblastoma gene in human spermatogenesis. (21204751)	Lau Y.F.... Kido T.	2011	TSPYL2, TSPY1
2	The chromosome Y-linked testis-specific protein locus TSPY1 is characteristically present in gonadoblastoma. (20656323)	Hertel J.D.... Pfeifer J.D.	2010	TSPY1
3	Coexistence of a choriocarcinoma and a gonadoblastoma in the gonad of a 46,XY female: a single nucleotide polymorphism array analysi s. (19425818)	Beaulieu Bergeron M.... Lemieux N.	2010	SRY
4	Bilateral gonadoblastoma with dysgerminoma and pilocy tic astrocytoma with WT1 GT-IVS9 mutation: A 46 XY phenotypic female with Frasi er syndrome. (19653292)	Subbiah V.... Herzog C.E.	2009	WT1
5	A novel SRY missense mutation affecting nuclear impor t in a 46,XY female patient with bilateral gonadoblastoma. (19513096)	Hersmus R.... Looijenga L.H.	2009	SRY, FOXL2, TSPY1
6	Gonadoblastoma-associated mixed germ cell tumour in 46,XY complete gonadal dysgenesis (Swyer syndrome): analysis of Y chromosomal genotype and OCT3/4 and TSPY expression profile. (18312345)	Ng S.B.... Looijenga L.H.	2008	TSPY1
7	Testis-specific protein Y-encoded gene is expressed in early and late stages of gonadoblastoma and testicular carcinoma in situ. (17349529)	Li Y.... Lau Y.F.	2007	KIT, ALPP, TSPY1
8	Gonadoblastoma arising in undifferentiated gonadal tissue within dysgenetic gonads. (16608895)	Cools M.... Looijenga L.H.	2006	ALPPL2
9	Identification of germ cells at risk for neoplastic transformation in gonadoblastoma: an immunohistochemical study for OCT3/4 and TSPY. (15948118)	Kersemaekers A.M.... Looijenga L.H.	2005	TSPY1
10	Gonadoblastoma: evidence for a stepwise progression to dysgerminoma in a dysgenetic ovary. (15968543)	Pauls K.... Zhou H.	2005	ALPPL2
11	TSPY, the candidate gonadoblastoma gene on the human Y chromosome, has a widely expressed homologue on the X -- implications for Y chromosome evolution. (15241014)	Delbridge M.L.... Mitchell M.J.	2004	TSPYL2, RBMY1A1, TSPY1
12	Expression pattern of a gonadoblastoma candidate gene suggests a role of the Y chromosome in prostate cancer. (14684991)	Lau Y.F.... Komuves L.G.	2003	TSPY1
13	Molecular breakpoint analysis and relevance of variable mosaicism in a woman with short stature, primary amenorrhea, unilateral gonadoblastoma, and a 46,X,del(Y)(q11)/45,X karyotype. (12239720)	Kotzot D.... Froster U.G.	2002	SRY
14	Expression of a candidate gene for the gonadoblastoma locus in gonadoblastoma and testicular seminoma. (11173850)	Lau Y.-F.C.... Koemueves L.G.	2000	TSPY1
15	Gonadoblastoma, testicular and prostate cancers, and the TSPY gene. (10090875)	Lau Y.-F.C.	1999	TSPY1
16	Detection of TSPY protein in a unilateral microscopic gonadoblastoma of a Turner mosaic patient with a Y-derived marker chromosome. (10629567)	Hildenbrand R.... Arnemann J.	1999	TSPY1
17	Heterogeneity of gonadoblastoma germ cells: similarities with immature germ cells, spermatogonia and testicular carcinoma in situ cells. (9190360)	Jorgensen N.... Skakkebaek N.E.	1997	ALPPL2
18	Gonadoblastoma: immunohistochemical localization of MA1llerian-inhibiting substance, inhibin, WT-1, and p53. (9388060)	Hussong J.... Chou P.M.	1997	WT1
19	RB1 deletion in gonadoblastoma in an XY female. (9402965)	Antonini S.... Vianna-Morgante A.M.	1997	RB1
20	XY gonadal dysgenesis and gonadoblastoma: a study in two sisters with a cryptic deletion of the Y chromosome involving the SRY gene. (7814028)	Barbosa A.S.... Moreira-Filho C.A.	1995	SRY
21	Gonadoblastoma: molecular definition of the susceptibility region on the Y chromosome. (8533770)	Tsuchiya K.... Disteche C.M.	1995	TSPY1
22	Bilateral gonadoblastoma producing steroid hormones i n a patient with 45,X/46,XY gonadal dysgenesis. (1702401)	Fukamatsu Y.... Fukuta T.	1990	CGB
23	Regional assignment of catalase (CAT) gene to band 11p13. Association with the aniridia-Wilms' tumor-Gonadoblastoma (WAGR) complex. (6252821)	Junien C.... Dufier J.L.	1980	CAT

Genes related to gonadoblastoma according to GeneCards:

(show all 30)

id	Symbol	Description	Score	GeneCards Section Context
1	TSPY1	testis specific protein, Y-linked 1	11.0	Publications
2	DMRT3	doublesex and mab-3 related transcription factor 3	11.0
3	ALPPL2	alkaline phosphatase, placental-like 2	11.0	Publications
4	SRY	sex determining region Y	11.0	Publications
5	WT1	Wilms tumor 1	11.0	Publications
6	ALPP	alkaline phosphatase, placental	11.0	Publications
7	KIT	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	11.0	Publications
8	TSPY10	testis specific protein, Y-linked 10	11.0
9	TSPY3	testis specific protein, Y-linked 3	11.0
10	VCY	variable charge, Y-linked	11.0	Disorders
11	VCY1B	variable charge, Y-linked 1B	11.0	Disorders
12	CDY1B	chromodomain protein, Y-linked, 1B	11.0	Disorders
13	CDY1	chromodomain protein, Y-linked, 1	11.0
14	TSPYL2	TSPY-like 2	11.0	Publications
15	ZFY	zinc finger protein, Y-linked	11.0
16	RBMY1F	RNA binding motif protein, Y-linked, family 1, member F	11.0
17	RBMY1A1	RNA binding motif protein, Y-linked, family 1, member A1	11.0	Publications
18	RBMY1J	RNA binding motif protein, Y-linked, family 1, member J	11.0
19	POU5F1B	POU class 5 homeobox 1B	11.0
20	RPS4Y1	ribosomal protein S4, Y-linked 1	11.0
21	PRKY	protein kinase, Y-linked, pseudogene	11.0
22	FOXL2	forkhead box L2	11.0	Publications
23	NANOG	Nanog homeobox	11.0
24	SLC25A10	solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10	11.0
25	CCDC15	coiled-coil domain containing 15	11.0
26	CGB	chorionic gonadotropin, beta polypeptide	11.0	Publications
27	IRF1	interferon regulatory factor 1	11.0
28	POU5F1	POU class 5 homeobox 1	11.0
29	RB1	retinoblastoma 1	11.0	Publications
30	CAT	catalase	11.0	Publications

Pathways related to gonadoblastoma according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Human Early Embryo Development36	9.2	NANOG, POU5F1
2	Selected targets of Oct-3/410	9.1	NANOG, CGB, POU5F1

Compounds related to gonadoblastoma according to GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	dmrt32	10.2	WT1, SRY
2	7,8-dihydroneopterin32 18	11.2	ALPP, ALPPL2
3	dihydroneopterin triphosphate32 18	11.1	ALPPL2, ALPP
4	deoxyribonucleic acid32	10.0	ZFY, SRY, WT1
5	dihydroxyacetone32 18	10.9	ALPPL2, ALPP
6	vincristine32 34 9 9	12.0	KIT, RB1, CGB, WT1
7	butyrate32	8.8	WT1, ALPPL2, ALPP, IRF1, RB1

Cellular components related to gonadoblastoma according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	nucleus	GO:005634	5.0	KIT, POU5F1, POU5F1B, TSPY3, TSPY10, TSPY1

Biological processes related to gonadoblastoma according to GeneDecks:

(show all 7)

id	Name	GO ID	Score	Top Affiliating Genes
1	positive regulation of male gonad development	GO:2000020	10.2	SRY, WT1
2	gonadal mesoderm development	GO:007506	10.2	TSPY1, TSPY10, TSPY3
3	sex differentiation	GO:007548	10.1	DMRT3, SRY, TSPY1
4	nucleosome assembly	GO:006334	9.7	TSPY3, TSPY10, TSPY1, TSPYL2
5	spermatogenesis	GO:007283	9.5	TSPY3, TSPY10, TSPY1, CDY1B, RBMY1J, KIT
6	endodermal cell fate specification	GO:001714	9.2	NANOG, POU5F1
7	cell differentiation	GO:030154	9.2	TSPY3, TSPY10, TSPY1, SRY, DMRT3, FOXL2

Molecular functions related to gonadoblastoma according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	alkaline phosphatase activity	GO:004035	9.9	ALPPL2, ALPP
2	sequence-specific DNA binding	GO:043565	8.0	NANOG, FOXL2, IRF1, DMRT3, WT1, POU5F1B
3	sequence-specific DNA binding transcription factor activity	GO:003700	7.4	RB1, NANOG, FOXL2, IRF1, WT1, POU5F1B