Rokitansky-kuster-hauser Syndrome malady

MalaCards: Rokitansky-kuster-hauser Syndrome, also known as rokitansky kuster hauser syndrome, is related to murcs association and mayer-rokitansky-kuster-hauser syndrome. An important gene associated with Rokitansky-kuster-hauser Syndrome is WNT4 (wingless-type MMTV integration site family, member 4), and among its related pathways are Hedgehog Signaling in Mammals and Human Embryonic Stem Cell Pluripotency. Affiliated tissues include testis, and related mouse phenotypes are renal/urinary system and craniofacial.

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Diseases related to rokitansky-kuster-hauser syndrome by text searches and GeneDecks gene sharing:

(show all 25)

id	Related Disease	Score	Top Affiliating Genes
1	murcs association	31.3	TBX5, TBX3, TP63
2	mayer-rokitansky-kuster-hauser syndrome	30.9	AMH, AMHR2, TP63, TBX3, TBX5, DMRT3
3	persistent mullerian duct syndrome	13.1	AMHR2, AMH
4	disorders of sex development	13.1	TSPY1, WNT4
5	xy sex reversal	13.1	DMRT3, TSPY1
6	ulnar-mammary syndrome	13.0	TBX5, TBX3
7	sex reversal	13.0	DMRT3, TSPY1, WNT4
8	holt-oram syndrome	12.9	TBX5, TBX3
9	gonadoblastoma	12.9	DMRT3, TSPY1
10	fragile x-associated primary ovarian insufficiency	12.9	GALT, AMH
11	pseudohermaphroditism	12.8	AMH, AMHR2
12	turner syndrome	12.7	TSPY1, SHOX
13	adult-onset still's disease	12.6	TP63, TBX3
14	hypogonadism	12.3	AMH, SHOX, GALT
15	gonadal dysgenesis	12.1	WNT4, TSPY1, SHOX, DMRT3, AMH
16	premature ovarian failure	12.0	AMH, AMHR2, SHOX, WNT4, GALT
17	hermaphroditism	11.7	AMH, WNT4, WNT5A, WNT7A, WNT9B
18	stickler syndrome	11.7	TP63, WNT5A, WNT9B
19	cleft palate	11.5	WNT9B, WNT7A, WNT5A, TP63
20	cleft lip	11.4	TP63, WNT5A, WNT7A, WNT9B
21	basal cell carcinoma	11.3	TP63, WNT4, WNT5A, WNT7A, WNT9B
22	ovarian cancer	10.5	GALT, WNT5A, WNT4, TP63, AMHR2, AMH
23	carcinoma	9.3	WNT9B, WNT7A, WNT5A, WNT4, TSPY1, DMRT3
24	neuronitis	9.3	WNT4, WNT5A, WNT7A, WNT9B, TSPY1, SHOX
25	vaginitis	8.6

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to rokitansky-kuster-hauser syndrome:

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MGI Mouse Phenotypes related to rokitansky-kuster-hauser syndrome:

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id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	renal/urinary system phenotype	MP:0005367	8.0	LHX1, AMHR2, TP63, WNT4, WNT5A, WNT9B
2	craniofacial phenotype	MP:0005382	8.0	WNT9B, WNT5A, DMRT3, TBX3, LHX1, TP63
3	endocrine/exocrine gland phenotype	MP:0005379	7.8	AMH, AMHR2, TP63, TBX3, WNT4, LHX1
4	normal phenotype	MP:0002873	7.7	TP63, TBX3, TBX5, WNT4, WNT7A, LHX1
5	limbs/digits/tail phenotype	MP:0005371	7.6	WNT4, TBX3, TBX5, WNT5A, WNT7A, TP63
6	skeleton phenotype	MP:0005390	7.3	WNT7A, TP63, TBX3, TBX5, DMRT3, WNT5A
7	embryogenesis phenotype	MP:0005380	6.8	WNT5A, WNT9B, LHX1, AMHR2, TP63, WNT7A
8	reproductive system phenotype	MP:0005389	6.7	LHX1, AMH, AMHR2, TP63, TBX3, DMRT3
9	mortality/aging	MP:0010768	6.4	TP63, WNT4, DMRT3, TBX3, WNT5A, WNT7A

Articles related to rokitansky-kuster-hauser syndrome:

id	Title	Authors	Year	Affiliating Genes
1	SHOX duplications found in some cases with type I May er-Rokitansky-Kuster-Hauser syndrome. (20847698)	Gervasini C.... Miozzo M.	2010	SHOX
2	Mayer-Rokitansky-Kuster-Hauser syndrome: recent clinical and genetic findings. (19165657)	Sultan C.... Philibert P.	2009	WNT4
3	Mutational analysis of the WNT gene family in women with Mayer-Rokitansky-Kuster-Hauser syndrome. (19171330)	Ravel C.... Siffroi J.P.	2009	WNT5A, WNT7A, WNT4
4	Genetic analyses in a variant of Mayer-Rokitansky-Kuster-Hauser syndrome (MURCS association). (18726671)	Hofstetter G.... Janecke A.	2008	TBX5, TP63, TBX3
5	Molecular analysis of the WNT4 gene in 6 patients with Mayer-Rokitansky-Kuster-Hauser syndrome. (18001722)	Drummond J.B.... De Marco L.	2008	WNT4
6	WNT4 deficiency-a clinical phenotype distinct from the classic Mayer- Rokitansky-Kuster-Hauser syndrome: a case report. (16959810)	Biason-Lauber A.... Schoenle E.J.	2007	WNT4
7	DNA sequence variations of the entire anti-Mullerian hormone (AMH) gene promoter and AMH protein expression in patients with the Mayer-Rokitanski-Kuster-Hauser syndrome. (15550498)	Oppelt P.... Strick R.	2005	AMH
8	Bilateral ovarian agenesis and the presence of the testis-specific protein 1-Y-linked gene: two new features of Mayer-Rokitansky-Kuster-Hauser syndrome. (15037423)	Plevraki E.... Avramides A.	2004	TSPY1, DMRT3
9	Molecular analysis of the anti-Mullerian hormone, the anti-Mullerian hormone receptor, and galactose-1-phosphate uridyl transferase genes in patients with the Mayer-Rokitansky-Kuster-Hauser syndrome. (15221321)	Zenteno J.C.... Kofman-Alfaro S.	2004	AMHR2, AMH
10	Vaginal agenesis (Mayer-Rokitansky-Kuster-Hauser syndrome) associated with the N314D mutation of galactose-1-phosphate uridyl transferase (GALT). (9238673)	Cramer D.W.... Reichardt J.K.	1996	GALT

Genes related to rokitansky-kuster-hauser syndrome according to GeneCards:

(show all 14)

id	Symbol	Description	Score	GeneCards Section Context
1	WNT4	wingless-type MMTV integration site family, member 4	11.1	Publications, Summaries
2	LHX1	LIM homeobox 1	11.1	Summaries
3	TSPY1	testis specific protein, Y-linked 1	11.1	Publications
4	DMRT3	doublesex and mab-3 related transcription factor 3	11.1	Publications
5	AMHR2	anti-Mullerian hormone receptor, type II	11.1	Publications
6	WNT9B	wingless-type MMTV integration site family, member 9B	11.1	Publications
7	TBX3	T-box 3	11.1	Publications
8	GALT	galactose-1-phosphate uridylyltransferase	11.1	Publications
9	AMH	anti-Mullerian hormone	11.1	Publications
10	WNT7A	wingless-type MMTV integration site family, member 7A	11.1	Publications
11	WNT5A	wingless-type MMTV integration site family, member 5A	11.1	Publications
12	TBX5	T-box 5	11.1	Publications
13	TP63	tumor protein p63	11.1	Publications
14	SHOX	short stature homeobox	11.1	Publications

Pathways related to rokitansky-kuster-hauser syndrome according to GeneDecks:

(show all 15)

id	Pathway	Score	Top Affiliating Genes
1	Hedgehog Signaling in Mammals36	9.4	WNT5A, WNT7A, WNT4
2	Human Embryonic Stem Cell Pluripotency36	9.3	WNT4, WNT7A, WNT5A
3	Nanog in Mammalian ESC Pluripotency36	9.3	WNT7A, WNT4, WNT5A
4	Basal cell carcinoma20	9.2	WNT7A, WNT5A, WNT4, WNT9B
5	Hedgehog signaling pathway20	9.2	WNT5A, WNT4, WNT7A, WNT9B
6	Translation_Non-genomic (rapid) action of Androgen Receptor41	9.2	WNT5A, WNT9B, WNT7A, WNT4
7	Translation Non-genomic (rapid) action of Androgen Receptor10	9.2	WNT5A, WNT9B, WNT7A, WNT4
8	Transcription_Androgen Receptor nuclear signaling41	9.2	WNT9B, WNT4, WNT5A, WNT7A
9	Presenilin-Mediated Signaling36	9.2	WNT7A, WNT5A, WNT4
10	Transcription Androgen Receptor nuclear signaling10	9.2	WNT9B, WNT7A, WNT5A, WNT4
11	Melanogenesis20	9.1	WNT9B, WNT7A, WNT5A, WNT4
12	Wnt Signaling Pathway37	9.1	WNT4, WNT7A, WNT9B, WNT5A
13	Wnt signaling pathway20	9.1	WNT7A, WNT4, WNT5A, WNT9B
14	Pathways in cancer20	9.0	WNT9B, WNT7A, WNT5A, WNT4
15	Colorectal Cancer Metastasis36	9.0	WNT4, WNT5A, WNT7A

Cellular components related to rokitansky-kuster-hauser syndrome according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	proteinaceous extracellular matrix	GO:005578	8.9	WNT4, WNT5A, WNT7A, WNT9B

Biological processes related to rokitansky-kuster-hauser syndrome according to GeneDecks:

(show all 22)

id	Name	GO ID	Score	Top Affiliating Genes
1	paramesonephric duct development	GO:061205	10.3	WNT4, LHX1
2	oviduct development	GO:060066	10.1	WNT7A, LHX1
3	Mullerian duct regression	GO:001880	10.0	AMH, AMHR2
4	gonadal mesoderm development	GO:007506	10.0	TSPY1, AMH
5	positive regulation of meiosis	GO:045836	10.0	WNT5A, WNT4
6	urogenital system development	GO:001655	9.9	LHX1, AMH
7	anterior/posterior axis specification, embryo	GO:008595	9.8	TBX3, WNT5A
8	forelimb morphogenesis	GO:035136	9.7	TBX5, TBX3
9	pattern specification process	GO:007389	9.6	TBX5, LHX1
10	cellular response to transforming growth factor beta stimulus	GO:071560	9.6	WNT7A, WNT4, WNT5A
11	canonical Wnt receptor signaling pathway	GO:060070	9.5	WNT4, WNT5A, WNT7A
12	epithelial to mesenchymal transition	GO:001837	9.4	WNT4, WNT5A
13	palate development	GO:060021	9.4	WNT5A, WNT7A, TBX3
14	embryonic forelimb morphogenesis	GO:035115	9.4	WNT7A, TBX5, TBX3
15	establishment of planar polarity	GO:001736	9.3	WNT5A, TP63
16	cell aging	GO:007569	9.2	TBX3, TP63
17	sex differentiation	GO:007548	9.1	DMRT3, AMHR2, AMH, WNT7A, TSPY1
18	embryonic limb morphogenesis	GO:030326	9.0	TP63, TBX5
19	cell-cell signaling	GO:007267	9.0	WNT9B, TBX5, AMH, LHX1, WNT4
20	skeletal system development	GO:001501	8.9	TP63, SHOX, TBX3
21	negative regulation of transcription, DNA-dependent	GO:045892	8.6	LHX1, WNT4, TP63, TBX3, WNT5A
22	positive regulation of transcription, DNA-dependent	GO:045893	7.6	LHX1, TP63, TBX3, TBX5, WNT4, WNT5A

Molecular functions related to rokitansky-kuster-hauser syndrome according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	frizzled binding	GO:005109	9.6	WNT5A, WNT4
2	receptor agonist activity	GO:048018	9.3	WNT7A, WNT5A, WNT4
3	sequence-specific DNA binding	GO:043565	9.0	TBX3, TBX5, DMRT3, LHX1
4	sequence-specific DNA binding transcription factor activity	GO:003700	7.9	LHX1, WNT5A, SHOX, TBX5, TBX3