MCID: NNS042
MIFTS: 22

Nonsyndromic Disorders of Testicular Development

Categories: Reproductive diseases

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:



Summaries for Nonsyndromic Disorders of Testicular Development

MalaCards based summary : Nonsyndromic Disorders of Testicular Development is related to hypospadias and 46 xy gonadal dysgenesis. An important gene associated with Nonsyndromic Disorders of Testicular Development is DHH (Desert Hedgehog Signaling Molecule), and among its related pathways/superpathways are DNA Damage Response (only ATM dependent) and Nuclear Receptor transcription pathway. Affiliated tissues include testis and ovary, and related phenotypes are endocrine/exocrine gland and reproductive system

GeneReviews: NBK1547

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 31)
# Related Disease Score Top Affiliating Genes
1 hypospadias 28.9 SRY NR5A1
2 46 xy gonadal dysgenesis 27.1 SRY NR5A1 NR0B1 MAP3K1 DMRT1 DHH
3 gonadal dysgenesis 27.1 SRY NR5A1 NR0B1 MAP3K1 DMRT1 DHH
4 46,xy sex reversal 7 10.0
5 46,xy sex reversal 1 10.0
6 gonadoblastoma 10.0
7 46,xy gonadal dysgenesis, partial, with minifascicular neuropathy 10.0
8 46,xy sex reversal 3 10.0
9 46,xy sex reversal 6 10.0
10 sex development disorder 10.0
11 syndrome with 46,xy disorder of sex development 10.0
12 adrenal cortical hypofunction 9.9 NR5A1 NR0B1
13 mixed gonadal dysgenesis 9.9 SRY DHH
14 adrenal hypoplasia, congenital 9.9 NR5A1 NR0B1
15 hermaphroditism 9.7 WNT4 SRY
16 adrenocortical carcinoma, hereditary 9.7 NR5A1 NR0B1
17 anorchia 9.7 SRY NR5A1
18 androgen insensitivity syndrome 9.6 SRY NR5A1
19 persistent mullerian duct syndrome 9.5 SRY NR5A1
20 frasier syndrome 9.5 SRY NR5A1
21 pseudohermaphroditism 9.5 SRY NR5A1
22 cryptorchidism, unilateral or bilateral 9.4 SRY NR5A1
23 premature ovarian failure 1 9.4 SRY NR5A1
24 endometriosis 9.4 WNT4 NR5A1
25 46,xx sex reversal 1 9.2 SRY NR5A1 NR0B1
26 alternating hemiplegia of childhood 9.2 SRY NR5A1 NR0B1
27 amenorrhea 9.2 WNT4 SRY NR5A1
28 lipoid congenital adrenal hyperplasia 9.2 SRY NR5A1 NR0B1
29 gonadal disease 9.2 SRY NR5A1 NR0B1
30 wilms tumor 1 9.1 SRY NR5A1 NR0B1
31 46,xy partial gonadal dysgenesis 8.4 SRY NR5A1 NR0B1 MAP3K1 DHH

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



Diseases related to Nonsyndromic Disorders of Testicular Development

Symptoms & Phenotypes for Nonsyndromic Disorders of Testicular Development

MGI Mouse Phenotypes related to Nonsyndromic Disorders of Testicular Development:

46
# 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

Drugs & Therapeutics for Nonsyndromic Disorders of Testicular Development

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

Genetic Tests for Nonsyndromic Disorders of Testicular Development

Anatomical Context for Nonsyndromic Disorders of Testicular Development

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

41
Testis, Ovary

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. 4
25970709 2015
2
Exome sequencing for the diagnosis of 46,XY disorders of sex development. 4
25383892 2015
3
Disorders of sex development (DSDs): an update. 4
24758178 2014
4
9p partial monosomy and disorders of sex development: review and postulation of a pathogenetic mechanism. 4
23824832 2013
5
Steroidogenic factor-1 and human disease. 4
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. 4
22518125 2012
7
Copy number variation in patients with disorders of sex development due to 46,XY gonadal dysgenesis. 4
21408189 2011
8
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. 4
20685758 2010
9
Identification of de novo copy number variants associated with human disorders of sexual development. 4
21048976 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. 4
20302644 2010
11
Consensus in Guidelines for Evaluation of DSD by the Texas Children's Hospital Multidisciplinary Gender Medicine Team. 4
20981291 2010
12
Ovaries and female phenotype in a girl with 46,XY karyotype and mutations in the CBX2 gene. 4
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. 4
18384427 2008
14
Isolated 46,XY gonadal dysgenesis in two sisters caused by a Xp21.2 interstitial duplication containing the DAX1 gene. 4
17504899 2007
15
A Gender Assessment Team: experience with 250 patients over a period of 25 years. 4
17575501 2007
16
Summary of consensus statement on intersex disorders and their management. International Intersex Consensus Conference. 4
16882833 2006
17
Mutations in the desert hedgehog (DHH) gene in patients with 46,XY complete pure gonadal dysgenesis. 4
15356051 2004
18
Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic factor-1, in a dose-dependent manner. 4
11932325 2002
19
A novel mutation of desert hedgehog in a patient with 46,XY partial gonadal dysgenesis accompanied by minifascicular neuropathy. 4
11017805 2000
20
Clinical review 111: familial sex reversal: a review. 4
10690846 2000
21
A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans. 4
10369247 1999
22
Mutations and sequence variants in the testis-determining region of the Y chromosome in individuals with a 46,XY female phenotype. 4
9150734 1997
23
Mutations in SRY and SOX9: testis-determining genes. 4
9143916 1997
24
Evidence for increased prevalence of SRY mutations in XY females with complete rather than partial gonadal dysgenesis. 4
1415266 1992
25
Nonsyndromic Disorders of Testicular Development 38
20301714 2008

Variations for Nonsyndromic Disorders of Testicular Development

Expression for Nonsyndromic Disorders of Testicular Development

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

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 11.22 WNT4 MAP3K1
2
Show member pathways
10.91 NR5A1 NR0B1
3 10.32 SRY NR0B1

GO Terms for Nonsyndromic Disorders of Testicular Development

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 9.87 SRY NR5A1 NR0B1 DMRT1
2 cell differentiation GO:0030154 9.77 WNT4 SRY NR5A1 NR0B1 DMRT1
3 steroid hormone mediated signaling pathway GO:0043401 9.55 NR5A1 NR0B1
4 intracellular receptor signaling pathway GO:0030522 9.54 NR5A1 NR0B1
5 female gonad development GO:0008585 9.52 WNT4 NR5A1
6 hormone metabolic process GO:0042445 9.51 WNT4 NR5A1
7 sex differentiation GO:0007548 9.5 WNT4 SRY DMRT1
8 oocyte development GO:0048599 9.49 WNT4 DMRT1
9 Leydig cell differentiation GO:0033327 9.48 NR0B1 DHH
10 sex determination GO:0007530 9.46 NR5A1 NR0B1
11 male gonad development GO:0008584 9.46 WNT4 NR5A1 NR0B1 DMRT1
12 regulation of steroid biosynthetic process GO:0050810 9.43 NR5A1 DHH
13 adrenal gland development GO:0030325 9.43 WNT4 NR5A1 NR0B1
14 Sertoli cell differentiation GO:0060008 9.4 NR0B1 DMRT1
15 negative regulation of cell differentiation GO:0045596 9.26 WNT4
16 positive regulation of male gonad development GO:2000020 9.13 SRY NR5A1 DMRT1
17 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 9.46 SRY NR5A1 NR0B1 DMRT1
2 steroid hormone receptor activity GO:0003707 8.96 NR5A1 NR0B1
3 nuclear receptor activity GO:0004879 8.62 NR5A1 NR0B1

Sources for Nonsyndromic Disorders of Testicular Development

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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