Xy Sex Reversal malady

MalaCards: Xy Sex Reversal is related to congenital adrenal insufficiency and campomelic dysplasia. An important gene associated with Xy Sex Reversal is NR5A1 (nuclear receptor subfamily 5, group A, member 1), and among its related pathways are Development_Role of Activin A in cell differentiation and proliferation and Development Role of Activin A in cell differentiation and proliferation. The compounds di-n-butyl phthalate and monobutyl phthalate have been mentioned in the context of this disorder. Related mouse phenotypes are muscle and craniofacial.

xy sex reversal 7

Diseases related to xy sex reversal by text searches and GeneDecks gene sharing:

(show top 50)    (show all 67)

id	Related Disease	Score	Top Affiliating Genes
1	congenital adrenal insufficiency	31.7	CYP11A1, STAR
2	campomelic dysplasia	30.2	SOX9, KPNB1, SRY, ZFY
3	dysgerminoma	29.5	FGFR2, DMRT1, SRY, TSPY1, SOX9
4	sex reversal	26.1	DMRT3, DMRT2, DMRT1, DOCK8, AKR1C4, AKR1C2
5	anorchia	13.4	SRY, NR5A1
6	luteoma	13.4	TSPY1, SRY
7	46,xy disorder of sex development and 46,xy complete gonadal dysgenesis	13.3	NR5A1, NR0B1, SRY
8	swyer syndrome	13.3	SOX9, SRY, TSPY1
9	46, xy disorders of sex development	13.3	SRY, NR0B1, NR5A1
10	campomelic dysplasia with autosomal sex reversal	13.3	KPNB1, SOX9
11	virilization	13.2	CYP11A1, SRY, SOX9
12	otomycosis	13.2	CALM1, CALM3
13	moebius syndrome	13.2	SOX9, SRY
14	gonadoblastoma	13.1	ZFY, DMRT3, SRY, TSPY1
15	frasier syndrome	13.1	SOX9, SRY
16	mayer-rokitansky-kuster-hauser syndrome	13.1	DMRT3, TSPY1
17	lipoid congenital adrenal hyperplasia	13.0	CYP11A1, NR5A1, STAR
18	ladd syndrome	13.0	FGFR2, FGF9
19	adrenocortical insufficiency	12.9	NR5A1, STAR
20	azoospermia	12.9	TSPY1, NR5A1, NR0B1, SRY, ZFY
21	turner syndrome	12.9	TSPY1, NR0B1, SRY, DMRT3, ZFY
22	x-linked adrenal hypoplasia congenita	12.9	STAR, NR5A1, NR0B1
23	clear cell acanthoma	12.9	KRIT1, FGFR2
24	achondroplasia	12.9	SOX9, FGFR2, FGF9
25	lipoid adrenal hyperplasia	12.8	STAR, NR0B1, CYP11A1
26	familial glucocorticoid deficiency	12.8	STAR, NR0B1
27	dosage-sensitive sex reversal	12.7	STAR, NR5A1, NR0B1, CYP11A1
28	adrenal hypoplasia	12.7	CYP11A1, NR0B1, NR5A1, STAR
29	abrikosov's tumor	12.7	SOX9, STAR, NR5A1, CYP11A1
30	hypogonadotropism	12.7	NR0B1, NR5A1, STAR
31	adrenal adenoma	12.7	STAR, NR5A1, NR0B1, CYP11A1
32	cryptorchidism	12.7	NR5A1, SRY, DMRT1
33	hypospadias	12.7	SOX9, NR5A1, SRY, CYP11A1, FGFR2
34	hyperandrogenism	12.7	STAR, NR5A1, NR0B1, CYP11A1
35	addison's disease	12.7	STAR, NR5A1, NR0B1, CYP11A1
36	adrenocortical carcinoma	12.7	STAR, NR5A1, NR0B1, CYP11A1
37	adrenocortical tumor	12.6	STAR, NR5A1, NR0B1, CYP11A1
38	acanthoma	12.6	KRIT1, FGFR2
39	21-hydroxylase deficiency	12.6	STAR, NR5A1, NR0B1, SRY, CYP11A1
40	leydig cell tumor	12.5	STAR, NR5A1, NR0B1, SRY, CYP11A1
41	pseudohermaphroditism	12.5	STAR, NR5A1, NR0B1, SRY, ZFY
42	adrenal hyperplasia	12.5	STAR, NR5A1, NR0B1, SRY, CYP11A1
43	hypogonadism	12.5	CYP11A1, SRY, NR0B1, NR5A1, STAR
44	thanatophoric dysplasia	12.4	FGF9, FGFR2
45	46, xy disorders of sexual development	12.2	STAR, TSPY1, NR5A1, SRY, DMRT1, ZFY
46	developmental disabilities	12.1	NR0B1, DOCK8, FGFR2
47	infertility	12.1	STAR, TSPY1, NR5A1, SRY, CYP11A1, DMRT1
48	cerebellar hypoplasia	12.0	SOX9, STAR, NR5A1, NR0B1, CYP11A1, FGFR2
49	choriocarcinoma	12.0	STAR, NR5A1, NR0B1, SRY, CYP11A1, FGFR2
50	bartter disease	11.9	STAR, NR5A1, NR0B1, CYP11A1, FGFR2

Approved drugs:

Drug clinical trials:

MGI Mouse Phenotypes related to xy sex reversal:

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id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	muscle phenotype	MP:0005369	8.4	TSPY1, CYP11A1, DMRT2, MAP3K1, FGFR2, FGF9
2	craniofacial phenotype	MP:0005382	8.0	SOX9, KRIT1, DMRT3, DMRT2, CBX2, FGFR2
3	endocrine/exocrine gland phenotype	MP:0005379	7.7	SOX9, STAR, NR5A1, NR0B1, SRY, CYP11A1
4	reproductive system phenotype	MP:0005389	7.4	NR0B1, NR5A1, FGF9, FGFR2, CBX2, DMRT1
5	mortality/aging	MP:0010768	6.5	DMRT3, SOX9, LMX1B, FGF9, FGFR2, MAP3K1

Articles related to xy sex reversal:

(show all 21)

id	Title	Authors	Year	Affiliating Genes
1	A novel SOX9 nonsense mutation, q401x, in a case of c ampomelic dysplasia with XY sex reversal. (21614988)	Stoeva R.... Stefanova M.	2011	SOX9
2	A novel SOX9 mutation, 972delC, causes 46,XY sex-reversed campomelic dysplasia with nephrocalcinosis, urolithiasis, and dysgerminoma. (19231556)	Cost N.G.... Baker L.A.	2009	SOX9
3	A case of ovine female XY sex reversal syndrome not r elated to anomalies in the sex-determining region Y (SRY). (19864878)	Ferrer L.M.... Lacasta D.	2009	TSPY1
4	Loss of Fgfr2 leads to partial XY sex reversal. (18155190)	Bagheri-Fam S.... Harley V.R.	2008	FGFR2, FGF9
5	Ovotestes and XY sex reversal in a female with an interstitial 9q33.3-q34.1 deletion encompassing NR5A1 and LMX1B causing features of Genitopatellar syndrome. (17431898)	Schlaubitz S.... Lee B.	2007	LMX1B
6	Defective calmodulin-mediated nuclear transport of the sex- determining region of the Y chromosome (SRY) in XY sex reversal. (15746192)	Sim H.... Harley V.R.	2005	CALM1, CALM3, CALM2
7	Homozygous disruption of P450 side-chain cleavage (CYP11A1) is associated with prematurity, complete 46,XY sex reversal, and severe adrenal failure. (15507506)	Hiort O.... Struve D.	2005	CYP11A1
8	A microdeletion in the ligand binding domain of human steroidogenic factor 1 causes XY sex reversal without adrenal insufficiency. (15070943)	Correa R.V.... Mendonca B.B.	2004	NR5A1
9	Identification of a new nonsense mutation (Tyr129Stop) of the SRY gene in a newborn infant with XY sex-reversal. (15211655)	Giuffre M.... Corsello G.	2004	SRY
10	Defective importin beta recognition and nuclear import of the sex- determining factor SRY are associated with XY sex-reversing mutations. (12764225)	Harley V.R.... Jans D.A.	2003	KPNB1, SRY
11	Heterozygous mutation in the cholesterol side chain cleavage enzyme (P450scc) gene in a patient with 46,XY sex reversal and adrenal insufficiency. (11502818)	Tajima T.... Miller W.L.	2001	NR5A1, CYP11A1, STAR
12	A novel missense mutation in the HMG box region of the SRY gene in a Japanese patient with an XY sex reversal. (10721678)	Okuhara K.... Fujieda K.	2000	SRY
13	Localization of SRY by primed in situ labeling in XX and XY sex reversal. (11074498)	Kadandale J.S.... Tharapel A.T.	2000	SRY
14	The region on 9p associated with 46,XY sex reversal contains several transcripts expressed in the urogenital system and a novel doublesex- related domain. (10729223)	Ottolenghi C.... McElreavey K.	2000	DOCK8, DMRT1, DMRT3
15	A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans. (10369247)	Achermann J.C.... Jameson J.L.	1999	NR5A1
16	A gene involved in XY sex reversal is located on chromosome 9, distal to marker D9S1779. (9718346)	Flejter W.L.... Chandrasekharappa S.	1998	DMRT1
17	Paternal somatic and germ-line mosaicism for a sex-determining region on Y (SRY) missense mutation leading to recurrent 46,XY sex reversal. (9093193)	Hines R.S.... McDonough P.G.	1997	SRY
18	Evidence to exclude SOX9 as a candidate gene for XY sex reversal without skeletal malformation. (8880588)	Kwok C.... Hawkins J.R.	1996	SOX9
19	XY sex reversal associated with a nonsense mutation in SRY. (1639410)	McElreavey K.D.... Fellous M.	1992	SRY
20	Mutational analysis of SRY: nonsense and missense mutations in XY sex reversal. (1339396)	Hawkins J.R.... Goodfellow P.N.	1992	SRY
21	Unusual distribution of Zfy and Zfx sequences on the sex chromosomes of the wood lemming, a species exhibiting XY sex reversal. (1349859)	Lau Y.F.... Wiberg U.H.	1992	ZFY

Genes related to xy sex reversal according to GeneCards:

(show all 24)

id	Symbol	Description	Score	GeneCards Section Context
1	NR5A1	nuclear receptor subfamily 5, group A, member 1	11.1	Publications, Summaries
2	CYP11A1	cytochrome P450, family 11, subfamily A, polypeptide 1	11.1	Publications
3	DMRT2	doublesex and mab-3 related transcription factor 2	11.0	Summaries
4	ZFY	zinc finger protein, Y-linked	11.0	Publications
5	SRY	sex determining region Y	11.0	Publications
6	DMRT3	doublesex and mab-3 related transcription factor 3	11.0	Publications
7	CBX2	chromobox homolog 2	11.0
8	TSPY1	testis specific protein, Y-linked 1	11.0	Publications
9	SOX9	SRY (sex determining region Y)-box 9	11.0	Publications
10	FGF9	fibroblast growth factor 9 (glia-activating factor)	11.0	Publications
11	AKR1C4	aldo-keto reductase family 1, member C4 (chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4)	11.0
12	NR0B1	nuclear receptor subfamily 0, group B, member 1	11.0
13	STAR	steroidogenic acute regulatory protein	11.0	Publications
14	MAP3K1	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	11.0
15	LMX1B	LIM homeobox transcription factor 1, beta	11.0	Publications
16	KRIT1	KRIT1, ankyrin repeat containing	11.0	Publications
17	CALM1	calmodulin 1 (phosphorylase kinase, delta)	11.0	Publications
18	CALM2	calmodulin 2 (phosphorylase kinase, delta)	11.0	Publications
19	CALM3	calmodulin 3 (phosphorylase kinase, delta)	11.0	Publications
20	AKR1C2	aldo-keto reductase family 1, member C2 (dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III)	11.0
21	DMRT1	doublesex and mab-3 related transcription factor 1	11.0	Publications
22	KPNB1	karyopherin (importin) beta 1	11.0	Publications
23	DOCK8	dedicator of cytokinesis 8	11.0	Publications
24	FGFR2	fibroblast growth factor receptor 2	11.0	Publications

Pathways related to xy sex reversal according to GeneDecks:

(show top 50)    (show all 91)

id	Pathway	Score	Top Affiliating Genes
1	Development_Role of Activin A in cell differentiation and proliferation41	10.1	NR5A1, STAR, CYP11A1
2	Development Role of Activin A in cell differentiation and proliferation10	10.1	STAR, NR5A1, CYP11A1
3	Steroid hormone biosynthesis20	9.8	AKR1C2, AKR1C4, CYP11A1
4	Cytoskeleton remodeling_RalB regulation pathway41	9.8	CALM3, CALM2, CALM1
5	Cytoskeleton remodeling RalB regulation pathway10	9.8	CALM2, CALM1, CALM3
6	PLCG1 events in ERBB2 signaling38	9.8	CALM2, CALM3, CALM1
7	nNOS Signaling at Neuronal Synapses36	9.8	CALM2, CALM1, CALM3
8	Phototransduction20	9.7	CALM3, CALM1, CALM2
9	Nur77 Signaling in T-Cell36	9.7	CALM1, CALM3, CALM2
10	Cytoskeleton remodeling RalA regulation pathway10	9.7	CALM3, CALM2, CALM1
11	Cytoskeleton remodeling_RalA regulation pathway41	9.7	CALM3, CALM1, CALM2
12	Development EPO-induced Jak-STAT pathway10	9.7	CALM1, CALM2, CALM3
13	Development_EPO-induced Jak-STAT pathway41	9.7	CALM3, CALM1, CALM2
14	Synaptic transmission- ion currents10	9.7	CALM3, CALM1, CALM2
15	Development Angiotensin signaling via beta-Arrestin10	9.7	CALM1, CALM3, CALM2
16	nNOS Signaling in Skeletal Muscle36	9.7	CALM2, CALM1, CALM3
17	iNOS Signaling36	9.7	CALM3, CALM1, CALM2
18	Development_Angiotensin signaling via beta-Arrestin41	9.7	CALM1, CALM2, CALM3
19	Calcium Mediated T-Cell Apoptosis36	9.6	CALM3, CALM2, CALM1
20	VEGF and S-1P Signaling36	9.6	CALM2, CALM3, CALM1
21	Development Endothelin-1/EDNRA transactivation of EGFR10	9.6	CALM3, CALM1, CALM2
22	Androgen Signaling36	9.6	SRY, CALM2, CALM1, CALM3
23	Development_Activation of ERK by Alpha-1 adrenergic receptors41	9.5	CALM3, CALM1, CALM2
24	Immune response IFN gamma signaling pathway10	9.5	CALM1, CALM2, CALM3, MAP3K1
25	Immune response_IFN gamma signaling pathway41	9.5	CALM3, CALM1, MAP3K1, CALM2
26	Development Angiotensin signaling via PYK210	9.5	CALM3, MAP3K1, CALM1, CALM2
27	Development_Angiotensin signaling via PYK241	9.5	CALM1, MAP3K1, CALM3, CALM2
28	Cytoskeleton remodeling_FAK signaling41	9.5	CALM1, CALM2, MAP3K1, CALM3
29	Cytoskeleton remodeling FAK signaling10	9.5	MAP3K1, CALM1, CALM2, CALM3
30	Immune response CD28 signaling10	9.5	CALM3, CALM1, MAP3K1, CALM2
31	Development Activation of ERK by Alpha-1 adrenergic receptors10	9.5	CALM2, CALM1, CALM3
32	Development_Endothelin-1/EDNRA signaling41	9.5	MAP3K1, CALM3, CALM1, CALM2
33	Development Endothelin-1/EDNRA signaling10	9.5	CALM2, CALM3, MAP3K1, CALM1
34	Immune response_CD28 signaling41	9.5	CALM2, MAP3K1, CALM1, CALM3
35	Immune response Fc epsilon RI pathway10	9.5	CALM3, CALM1, MAP3K1, CALM2
36	Immune response_Fc epsilon RI pathway41	9.5	CALM1, CALM3, MAP3K1, CALM2
37	GnRH signaling pathway20	9.5	MAP3K1, CALM2, CALM3, CALM1
38	Development_Endothelin-1/EDNRA transactivation of EGFR41	9.5	CALM1, CALM2, CALM3
39	Immune response _CCR3 signaling in eosinophils41	9.5	MAP3K1, CALM1, CALM2, CALM3
40	Immune response CCR3 signaling in eosinophils10	9.5	CALM2, CALM1, CALM3, MAP3K1
41	Neurotrophin signaling pathway20	9.4	CALM2, MAP3K1, CALM3, CALM1
42	TCR Signaling36	9.4	MAP3K1, CALM3, CALM1, CALM2
43	Development Angiotensin activation of ERK10	9.4	CALM1, CALM3, CALM2
44	CRHR Pathway36	9.4	CALM1, CALM2, CALM3, MAP3K1
45	Development_Angiotensin activation of ERK41	9.3	CALM3, CALM2, CALM1
46	NFAT and Cardiac Hypertrophy36	9.3	MAP3K1, CALM3, CALM1, CALM2
47	Development_Beta-adrenergic receptors signaling via cAMP41	9.2	CALM2, CALM3, CALM1
48	Development Beta-adrenergic receptors signaling via cAMP10	9.0	CALM3, CALM2, CALM1
49	NF-KappaB (p50-p65) Pathway36	8.8	CALM2, CALM1, CALM3, FGFR2
50	NFAT in Immune Response36	8.6	CALM2, CALM1, CALM3, FGFR2, KPNB1

Compounds related to xy sex reversal according to GeneDecks:

(show all 29)

id	Compound	Score	Top Affiliating Genes
1	di-n-butyl phthalate32	10.3	CYP11A1, STAR
2	monobutyl phthalate32	10.3	STAR, CYP11A1
3	22r-hydroxycholesterol32	10.2	STAR, CYP11A1, NR5A1
4	27-hydroxycholesterol32	10.0	STAR, CYP11A1
5	n-(6-aminohexyl)-5-chloro-1-naphthalenesulfonamide32 9 9	12.0	KRIT1, CALM1
6	hydroxysteroid32	10.0	AKR1C2, CYP11A1, NR5A1
7	17beta-hydroxysteroid32	10.0	NR5A1, STAR, CYP11A1, AKR1C4
8	ouabain32 42 9 9	13.0	STAR, KRIT1, CYP11A1
9	dihydroprogesterone32	10.0	CYP11A1, AKR1C2, AKR1C4
10	5alpha-dihydroprogesterone32	9.9	AKR1C4, AKR1C2
11	bile acid32	9.8	AKR1C2, AKR1C4
12	chlordecone32	9.8	AKR1C2, AKR1C4, KRIT1
13	dhea32	9.8	STAR, NR5A1, CYP11A1
14	deoxyribonucleic acid32	9.8	FGFR2, ZFY, SRY
15	acth32	9.7	STAR, NR5A1, NR0B1, CYP11A1
16	dihydrotestosterone32 9 18 9	12.7	AKR1C2, AKR1C4, CYP11A1, SRY
17	gnrh32	9.7	CYP11A1, NR0B1, NR5A1, STAR, MAP3K1
18	3beta-hydroxysteroid32	9.6	AKR1C4, CYP11A1, NR5A1, STAR, AKR1C2
19	prostaglandin32	9.6	AKR1C4, NR5A1, AKR1C2, STAR
20	dmrt32	9.5	DMRT1, SOX9, NR5A1, NR0B1, SRY
21	androstanedione32 9 18 9	12.5	AKR1C4, AKR1C2
22	ribonucleic acid32	9.4	NR5A1, CYP11A1, STAR, SOX9, FGFR2
23	cyclic amp32 18	10.1	STAR, MAP3K1, NR0B1, NR5A1, KRIT1, SOX9
24	dexamethasone32 42 34 9 9	13.0	CYP11A1, NR0B1, KRIT1, STAR, MAP3K1, SOX9
25	zinc32 18	9.9	NR5A1, ZFY, SRY, SOX9, DMRT1, NR0B1
26	progesterone32 42 9 18 9	12.7	STAR, NR5A1, CYP11A1, AKR1C4, AKR1C2, FGFR2
27	estrogen32	8.4	FGFR2, AKR1C4, CYP11A1, FGF9, NR0B1, KRIT1
28	steroid32	8.1	SOX9, LMX1B, FGFR2, AKR1C2, AKR1C4, CYP11A1
29	testosterone32 9 18 9	10.8	STAR, NR0B1, SOX9, MAP3K1, KRIT1, NR5A1

Biological processes related to xy sex reversal according to GeneDecks:

(show all 18)

id	Name	GO ID	Score	Top Affiliating Genes
1	C21-steroid hormone biosynthetic process	GO:006700	10.2	CYP11A1, STAR
2	positive regulation of male gonad development	GO:2000020	10.2	SOX9, NR5A1, SRY
3	sex differentiation	GO:007548	10.2	DMRT3, SRY, TSPY1
4	Leydig cell differentiation	GO:033327	10.1	NR0B1, CYP11A1
5	cellular response to jasmonic acid stimulus	GO:071395	10.0	AKR1C2, AKR1C4
6	lung-associated mesenchyme development	GO:060484	9.9	FGF9, FGFR2
7	sex determination	GO:007530	9.8	DMRT1, DMRT2
8	otic vesicle formation	GO:030916	9.8	FGFR2, SOX9
9	daunorubicin metabolic process	GO:044597	9.8	AKR1C2, AKR1C4
10	Sertoli cell differentiation	GO:060008	9.8	SOX9, DMRT1, NR0B1
11	positive regulation of mesenchymal cell proliferation	GO:002053	9.8	FGF9, SOX9, FGFR2
12	positive regulation of epithelial cell proliferation	GO:050679	9.7	FGFR2, FGF9, SOX9
13	doxorubicin metabolic process	GO:044598	9.7	AKR1C2, AKR1C4
14	cell differentiation	GO:030154	9.7	CBX2, DMRT3, SRY, NR5A1, TSPY1
15	steroid metabolic process	GO:008202	9.6	CYP11A1, STAR, AKR1C4, AKR1C2
16	male sex determination	GO:030238	9.6	NR0B1, FGF9, SRY, DMRT1
17	limb bud formation	GO:060174	9.4	SOX9, FGFR2
18	male gonad development	GO:008584	9.2	DMRT1, FGF9, NR0B1, NR5A1, SOX9, DMRT2

Molecular functions related to xy sex reversal according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	oxidoreductase activity, acting on NADH or NADPH, quinone or similar compound as acceptor	GO:016655	9.8	AKR1C2, AKR1C4
2	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity	GO:003705	9.6	SRY, NR5A1, SOX9