Nonsyndromic Disorders of Testicular Development disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Nonsyndromic Disorders of Testicular Development

MalaCards integrated aliases for Nonsyndromic Disorders of Testicular Development:

Name: Nonsyndromic Disorders of Testicular Development ²⁴

Classifications:

MalaCards categories:
Anatomical: Reproductive diseases

See all MalaCards categories (disease lists)

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Summaries for Nonsyndromic Disorders of Testicular Development

MalaCards based summary : Nonsyndromic Disorders of Testicular Development is related to sex development disorder and gonadoblastoma. An important gene associated with Nonsyndromic Disorders of Testicular Development is DHH (Desert Hedgehog Signaling Molecule), and among its related pathways/superpathways are Nuclear Receptor transcription pathway and Regulation of Androgen receptor activity. Affiliated tissues include testis, ovary and cortex, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

GeneReviews: NBK1547

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Related Diseases for Nonsyndromic Disorders of Testicular Development

Diseases related to Nonsyndromic Disorders of Testicular Development via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 38)

#	Related Disease	Score	Top Affiliating Genes
1	sex development disorder	29.7	WNT4 NR5A1
2	gonadoblastoma	29.0	SRY NR5A1 DMRT1
3	hypospadias	28.7	SRY NR5A1
4	gonadal dysgenesis	27.5	SRY NR5A1 NR0B1 MAP3K1 DMRT1 DHH
5	46 xy gonadal dysgenesis	26.9	WNT4 SRY NR5A1 NR0B1 MAP3K1 DMRT1
6	46,xy sex reversal 7	10.0
7	46,xy sex reversal 1	10.0
8	46,xy gonadal dysgenesis, partial, with minifascicular neuropathy	10.0
9	46,xy sex reversal 3	10.0
10	46,xy sex reversal 6	10.0
11	syndrome with 46,xy disorder of sex development	10.0
12	wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome	9.9	NR5A1 DMRT1
13	steroid inherited metabolic disorder	9.9	NR5A1 NR0B1
14	adrenal cortical hypofunction	9.9	NR5A1 NR0B1
15	intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies	9.9	NR5A1 NR0B1
16	glycerol kinase deficiency	9.8	NR5A1 NR0B1
17	adrenal cortex disease	9.8	NR5A1 NR0B1
18	hypoadrenocorticism, familial	9.8	NR5A1 NR0B1
19	adrenal gland disease	9.8	NR5A1 NR0B1
20	alternating hemiplegia of childhood	9.7	NR5A1 NR0B1
21	ovarian gonadoblastoma	9.7	WNT4 NR0B1 DMRT1
22	lipoid congenital adrenal hyperplasia	9.7	NR5A1 NR0B1
23	dysgerminoma	9.7	SRY DMRT1
24	anorchia	9.6	SRY NR5A1
25	amenorrhea	9.6	WNT4 NR5A1
26	frasier syndrome	9.6	SRY NR5A1
27	androgen insensitivity syndrome	9.5	SRY NR5A1
28	adrenal hypoplasia, congenital	9.5	WNT4 NR5A1 NR0B1
29	turner syndrome	9.4	SRY NR0B1
30	mixed gonadal dysgenesis	9.4	SRY NR5A1 DHH
31	cryptorchidism, unilateral or bilateral	9.3	NR5A1 NR0B1 DMRT1 DHH
32	pseudohermaphroditism	9.3	SRY NR5A1 NR0B1
33	46,xx sex reversal 1	9.3	SRY NR5A1 NR0B1
34	premature ovarian failure 1	9.2	WNT4 NR5A1 NR0B1 DMRT1
35	chondrodysplasia-pseudohermaphroditism syndrome	9.2	WNT4 NR5A1 NR0B1 MAP3K1
36	wilms tumor 1	8.9	WNT4 SRY NR5A1 NR0B1
37	46,xy partial gonadal dysgenesis	8.7	SRY NR5A1 NR0B1 MAP3K1 DHH
38	hermaphroditism	8.6	WNT4 SRY NR5A1 NR0B1 DMRT1

Graphical network of the top 20 diseases related to Nonsyndromic Disorders of Testicular Development:

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Symptoms & Phenotypes for Nonsyndromic Disorders of Testicular Development

GenomeRNAi Phenotypes related to Nonsyndromic Disorders of Testicular Development according to GeneCards Suite gene sharing:

²⁶ (show all 27)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased shRNA abundance (Z-score > 2)	GR00366-A-102	9.66	MAP3K1
2	Increased shRNA abundance (Z-score > 2)	GR00366-A-122	9.66	DHH
3	Increased shRNA abundance (Z-score > 2)	GR00366-A-125	9.66	MAP3K1
4	Increased shRNA abundance (Z-score > 2)	GR00366-A-128	9.66	DMRT1
5	Increased shRNA abundance (Z-score > 2)	GR00366-A-132	9.66	MAP3K1
6	Increased shRNA abundance (Z-score > 2)	GR00366-A-135	9.66	DMRT1
7	Increased shRNA abundance (Z-score > 2)	GR00366-A-136	9.66	DMRT1
8	Increased shRNA abundance (Z-score > 2)	GR00366-A-138	9.66	DHH
9	Increased shRNA abundance (Z-score > 2)	GR00366-A-166	9.66	MAP3K1
10	Increased shRNA abundance (Z-score > 2)	GR00366-A-169	9.66	DMRT1
11	Increased shRNA abundance (Z-score > 2)	GR00366-A-177	9.66	DMRT1
12	Increased shRNA abundance (Z-score > 2)	GR00366-A-210	9.66	DMRT1
13	Increased shRNA abundance (Z-score > 2)	GR00366-A-35	9.66	MAP3K1
14	Increased shRNA abundance (Z-score > 2)	GR00366-A-52	9.66	DMRT1
15	Increased shRNA abundance (Z-score > 2)	GR00366-A-60	9.66	MAP3K1
16	Increased shRNA abundance (Z-score > 2)	GR00366-A-70	9.66	DMRT1
17	Increased shRNA abundance (Z-score > 2)	GR00366-A-81	9.66	DHH DMRT1 MAP3K1
18	Increased shRNA abundance (Z-score > 2)	GR00366-A-85	9.66	MAP3K1
19	Increased shRNA abundance (Z-score > 2)	GR00366-A-88	9.66	DHH
20	Increased shRNA abundance (Z-score > 2)	GR00366-A-93	9.66	DMRT1
21	Decreased shRNA abundance (Z-score < -2)	GR00366-A-11	9.65	SRY
22	Decreased shRNA abundance (Z-score < -2)	GR00366-A-150	9.65	SRY
23	Decreased shRNA abundance (Z-score < -2)	GR00366-A-17	9.65	SRY
24	Decreased shRNA abundance (Z-score < -2)	GR00366-A-213	9.65	DMRT1
25	Decreased shRNA abundance (Z-score < -2)	GR00366-A-22	9.65	DMRT1 MAP3K1
26	Decreased shRNA abundance (Z-score < -2)	GR00366-A-48	9.65	DMRT1 MAP3K1 SRY
27	Decreased shRNA abundance (Z-score < -2)	GR00366-A-91	9.65	MAP3K1

MGI Mouse Phenotypes related to Nonsyndromic Disorders of Testicular Development:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	endocrine/exocrine gland	MP:0005379	9.35	DHH DMRT1 NR0B1 NR5A1 WNT4
2	reproductive system	MP:0005389	9.02	DHH DMRT1 NR0B1 NR5A1 WNT4

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Drugs & Therapeutics for Nonsyndromic Disorders of Testicular Development

Search Clinical Trials , NIH Clinical Center for Nonsyndromic Disorders of Testicular Development

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Genetic Tests for Nonsyndromic Disorders of Testicular Development

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Anatomical Context for Nonsyndromic Disorders of Testicular Development

MalaCards organs/tissues related to Nonsyndromic Disorders of Testicular Development:

⁴⁰

Testis, Ovary, Cortex, Adrenal Gland, Adrenal Cortex

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Publications for Nonsyndromic Disorders of Testicular Development

Articles related to Nonsyndromic Disorders of Testicular Development:

(show all 25)

#	Title	Authors	PMID	Year
1	New genomic technologies: an aid for diagnosis of disorders of sex development. ²⁴	Barseghyan H...Vilain E	25970709	2015
2	Exome sequencing for the diagnosis of 46,XY disorders of sex development. ²⁴	Baxter RM...Vilain E	25383892	2015
3	Disorders of sex development (DSDs): an update. ²⁴	Ostrer H	24758178	2014
4	9p partial monosomy and disorders of sex development: review and postulation of a pathogenetic mechanism. ²⁴	Quinonez SC...Keegan CE	23824832	2013
5	Steroidogenic factor-1 and human disease. ²⁴	El-Khairi R...Achermann JC	23044873	2012
6	Multigeneration Inheritance through Fertile XX Carriers of an NR0B1 (DAX1) Locus Duplication in a Kindred of Females with Isolated XY Gonadal Dysgenesis. ²⁴	Barbaro M...Wedell A	22518125	2012
7	Copy number variation in patients with disorders of sex development due to 46,XY gonadal dysgenesis. ²⁴	White S...Sinclair A	21408189	2011
8	Identification of de novo copy number variants associated with human disorders of sexual development. ²⁴	Tannour-Louet M...Lamb DJ	21048976	2010
9	Array-CGH analysis in patients with syndromic and non-syndromic XY gonadal dysgenesis: evaluation of array CGH as diagnostic tool and search for new candidate loci. ²⁴	Ledig S...Wieacker P	20685758	2010
10	Steroidogenic factor-1 (SF-1) gene mutation as a frequent cause of primary amenorrhea in 46,XY female adolescents with low testosterone concentration. ²⁴	Philibert P...Sultan C	20302644	2010
11	Consensus in Guidelines for Evaluation of DSD by the Texas Children's Hospital Multidisciplinary Gender Medicine Team. ²⁴	Douglas G...Sutton VR	20981291	2010
12	Ovaries and female phenotype in a girl with 46,XY karyotype and mutations in the CBX2 gene. ²⁴	Biason-Lauber A...Schoenle EJ	19361780	2009
13	Gene dosage imbalances in patients with 46,XY gonadal DSD detected by an in-house-designed synthetic probe set for multiplex ligation-dependent probe amplification analysis. ²⁴	Barbaro M...Oscarson M	18384427	2008
14	Isolated 46,XY gonadal dysgenesis in two sisters caused by a Xp21.2 interstitial duplication containing the DAX1 gene. ²⁴	Barbaro M...Wedell A	17504899	2007
15	A Gender Assessment Team: experience with 250 patients over a period of 25 years. ²⁴	Parisi MA...Pagon RA	17575501	2007
16	Summary of consensus statement on intersex disorders and their management. International Intersex Consensus Conference. ²⁴	Houk CP...Writing Committee for the International Intersex Consensus Conference Participants	16882833	2006
17	Mutations in the desert hedgehog (DHH) gene in patients with 46,XY complete pure gonadal dysgenesis. ²⁴	Canto P...Mendez JP	15356051	2004
18	Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic factor-1, in a dose-dependent manner. ²⁴	Achermann JC...Jameson JL	11932325	2002
19	A novel mutation of desert hedgehog in a patient with 46,XY partial gonadal dysgenesis accompanied by minifascicular neuropathy. ²⁴	Umehara F...Osame M	11017805	2000
20	Clinical review 111: familial sex reversal: a review. ²⁴	Sarafoglou K...Ostrer H	10690846	2000
21	A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans. ²⁴	Achermann JC...Jameson JL	10369247	1999
22	Mutations and sequence variants in the testis-determining region of the Y chromosome in individuals with a 46,XY female phenotype. ²⁴	Veitia R...McElreavey K	9150734	1997
23	Mutations in SRY and SOX9: testis-determining genes. ²⁴	Cameron FJ...Sinclair AH	9143916	1997
24	Evidence for increased prevalence of SRY mutations in XY females with complete rather than partial gonadal dysgenesis. ²⁴	Hawkins JR...Berkovitz GD	1415266	1992
25	Nonsyndromic Disorders of Testicular Development ⁶¹	Mohnach L...Keegan CE	20301714	2008

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Genes for Nonsyndromic Disorders of Testicular Development

Genes related to Nonsyndromic Disorders of Testicular Development (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	DHH	Desert Hedgehog Signaling Molecule	Protein Coding	7.01	GeneCards inferred via : Publications (show sections)
2	DMRT1	Doublesex And Mab-3 Related Transcription Factor 1	Protein Coding	7.01	GeneCards inferred via : Publications (show sections)
3	MAP3K1	Mitogen-Activated Protein Kinase Kinase Kinase 1	Protein Coding	7.01	GeneCards inferred via : Publications (show sections)
4	NR0B1	Nuclear Receptor Subfamily 0 Group B Member 1	Protein Coding	7.01	GeneCards inferred via : Publications (show sections)
5	NR5A1	Nuclear Receptor Subfamily 5 Group A Member 1	Protein Coding	7.01	GeneCards inferred via : Publications (show sections)
6	SRY	Sex Determining Region Y	Protein Coding	7.01	GeneCards inferred via : Publications (show sections)
7	WNT4	Wnt Family Member 4	Protein Coding	7.01	GeneCards inferred via : Publications (show sections)

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Variations for Nonsyndromic Disorders of Testicular Development

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Expression for Nonsyndromic Disorders of Testicular Development

Search GEO for disease gene expression data for Nonsyndromic Disorders of Testicular Development.

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Pathways for Nonsyndromic Disorders of Testicular Development

Pathways related to Nonsyndromic Disorders of Testicular Development according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Nuclear Receptor transcription pathway ⁶⁵ Show member pathways Nuclear Receptors ¹	10.91	NR5A1 NR0B1
2	Regulation of Androgen receptor activity ¹	10.32	SRY NR0B1

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GO Terms for Nonsyndromic Disorders of Testicular Development

Cellular components related to Nonsyndromic Disorders of Testicular Development according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	nuclear chromatin	GO:0000790	8.92	SRY NR5A1 NR0B1 DMRT1

Biological processes related to Nonsyndromic Disorders of Testicular Development according to GeneCards Suite gene sharing:

(show all 15)

#	Name	GO ID	Score	Top Affiliating Genes
1	cell differentiation	GO:0030154	9.8	WNT4 SRY NR5A1 NR0B1 DMRT1
2	steroid hormone mediated signaling pathway	GO:0043401	9.55	NR5A1 NR0B1
3	intracellular receptor signaling pathway	GO:0030522	9.54	NR5A1 NR0B1
4	female gonad development	GO:0008585	9.52	WNT4 NR5A1
5	hormone metabolic process	GO:0042445	9.51	WNT4 NR5A1
6	adrenal gland development	GO:0030325	9.5	WNT4 NR5A1 NR0B1
7	oocyte development	GO:0048599	9.49	WNT4 DMRT1
8	Leydig cell differentiation	GO:0033327	9.48	NR0B1 DHH
9	regulation of steroid biosynthetic process	GO:0050810	9.46	NR5A1 DHH
10	male gonad development	GO:0008584	9.46	WNT4 NR5A1 NR0B1 DMRT1
11	sex determination	GO:0007530	9.43	NR5A1 NR0B1
12	sex differentiation	GO:0007548	9.43	WNT4 SRY DMRT1
13	Sertoli cell differentiation	GO:0060008	9.37	NR0B1 DMRT1
14	positive regulation of male gonad development	GO:2000020	9.13	SRY NR5A1 DMRT1
15	male sex determination	GO:0030238	9.02	SRY NR5A1 NR0B1 DMRT1 DHH

Molecular functions related to Nonsyndromic Disorders of Testicular Development 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	9.26	SRY NR5A1 NR0B1 DMRT1
2	steroid hormone receptor activity	GO:0003707	9.16	NR5A1 NR0B1
3	nuclear receptor activity	GO:0004879	8.62	NR5A1 NR0B1

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