MCID: NNS042
MIFTS: 21

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 gonadoblastoma and hypospadias. 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 and ovary, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

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 49)
# Related Disease Score Top Affiliating Genes
1 gonadoblastoma 29.0 SRY NR5A1 DMRT1
2 hypospadias 28.7 SRY NR5A1
3 disorders of sexual development 28.4 WNT4 NR5A1 NR0B1 DMRT1 DHH
4 gonadal dysgenesis 27.6 SRY NR5A1 NR0B1 MAP3K1 DMRT1 DHH
5 46,xy sex reversal 27.0 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 spermatogenic failure 8 10.0 NR5A1 DMRT1
13 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 9.9 NR5A1 DMRT1
14 corticosterone methyloxidase type i deficiency 9.9 NR5A1 NR0B1
15 steroid inherited metabolic disorder 9.9 NR5A1 NR0B1
16 adrenal cortical hypofunction 9.9 NR5A1 NR0B1
17 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 9.9 NR5A1 NR0B1
18 glycerol kinase deficiency 9.9 NR5A1 NR0B1
19 adrenal cortex disease 9.8 NR5A1 NR0B1
20 leydig cell tumor 9.8 NR5A1 NR0B1
21 hypoadrenocorticism, familial 9.8 NR5A1 NR0B1
22 familial glucocorticoid deficiency 9.8 NR5A1 NR0B1
23 adrenal gland disease 9.8 NR5A1 NR0B1
24 alternating hemiplegia of childhood 9.7 NR5A1 NR0B1
25 lipoid congenital adrenal hyperplasia 9.7 NR5A1 NR0B1
26 ovarian gonadoblastoma 9.7 WNT4 NR0B1 DMRT1
27 dysgerminoma 9.7 SRY DMRT1
28 anorchia 9.7 SRY NR5A1
29 amenorrhea 9.7 WNT4 NR5A1
30 frasier syndrome 9.6 SRY NR5A1
31 adrenal carcinoma 9.6 NR5A1 NR0B1
32 campomelic dysplasia 9.6 SRY NR5A1
33 androgen insensitivity syndrome 9.6 SRY NR5A1
34 adrenal hypoplasia, congenital 9.5 WNT4 NR5A1 NR0B1
35 46,xy sex reversal 2 9.5 WNT4 NR5A1 NR0B1
36 mixed gonadal dysgenesis 9.4 SRY NR5A1 DHH
37 turner syndrome 9.4 SRY NR0B1
38 male infertility 9.3 SRY NR5A1 DMRT1
39 cryptorchidism, unilateral or bilateral 9.3 NR5A1 NR0B1 DMRT1 DHH
40 pseudohermaphroditism 9.3 SRY NR5A1 NR0B1
41 46,xx sex reversal 1 9.3 SRY NR5A1 NR0B1
42 persistent mullerian duct syndrome 9.2 WNT4 NR5A1 NR0B1 DMRT1
43 premature ovarian failure 1 9.2 WNT4 NR5A1 NR0B1 DMRT1
44 chondrodysplasia-pseudohermaphroditism syndrome 9.2 WNT4 NR5A1 NR0B1 MAP3K1
45 hermaphroditism 9.1 WNT4 SRY NR0B1 DMRT1
46 wilms tumor 1 8.9 WNT4 SRY NR5A1 NR0B1
47 45,x/46,xy mixed gonadal dysgenesis 8.8 WNT4 SRY NR0B1 DMRT1 DHH
48 46,xy partial gonadal dysgenesis 8.7 SRY NR5A1 NR0B1 MAP3K1 DHH
49 46,xx sex reversal 8.3 WNT4 SRY NR5A1 NR0B1 DMRT1 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

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

26 (show all 28)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-102 9.73 MAP3K1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-136 9.73 DMRT1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-182 9.73 SRY
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-210 9.73 DMRT1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-35 9.73 MAP3K1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-39 9.73 SRY
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-48 9.73 DMRT1 MAP3K1 SRY
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-70 9.73 DMRT1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-81 9.73 DMRT1
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-93 9.73 DMRT1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-125 9.62 MAP3K1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.62 DMRT1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.62 MAP3K1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-135 9.62 DMRT1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.62 DHH
16 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.62 MAP3K1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.62 DMRT1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-172 9.62 DHH
19 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.62 DMRT1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-213 9.62 DMRT1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-22 9.62 DMRT1 MAP3K1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.62 DMRT1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-60 9.62 MAP3K1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.62 DHH MAP3K1
25 Increased shRNA abundance (Z-score > 2) GR00366-A-84 9.62 DHH
26 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.62 MAP3K1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-88 9.62 DHH
28 Increased shRNA abundance (Z-score > 2) GR00366-A-91 9.62 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

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:

40
Testis, Ovary

Publications for Nonsyndromic Disorders of Testicular Development

Articles related to Nonsyndromic Disorders of Testicular Development:

(show all 26)
# Title Authors PMID Year
1
New genomic technologies: an aid for diagnosis of disorders of sex development. 24
25970709 2015
2
Exome sequencing for the diagnosis of 46,XY disorders of sex development. 24
25383892 2015
3
Disorders of sex development (DSDs): an update. 24
24758178 2014
4
9p partial monosomy and disorders of sex development: review and postulation of a pathogenetic mechanism. 24
23824832 2013
5
Steroidogenic factor-1 and human disease. 24
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
22518125 2012
7
Copy number variation in patients with disorders of sex development due to 46,XY gonadal dysgenesis. 24
21408189 2011
8
Identification of de novo copy number variants associated with human disorders of sexual development. 24
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
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
20302644 2010
11
Consensus in Guidelines for Evaluation of DSD by the Texas Children's Hospital Multidisciplinary Gender Medicine Team. 24
20981291 2010
12
Ovaries and female phenotype in a girl with 46,XY karyotype and mutations in the CBX2 gene. 24
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
18384427 2008
14
Isolated 46,XY gonadal dysgenesis in two sisters caused by a Xp21.2 interstitial duplication containing the DAX1 gene. 24
17504899 2007
15
A Gender Assessment Team: experience with 250 patients over a period of 25 years. 24
17575501 2007
16
Consensus statement on management of intersex disorders. International Consensus Conference on Intersex. 24
16882788 2006
17
Summary of consensus statement on intersex disorders and their management. International Intersex Consensus Conference. 24
16882833 2006
18
Mutations in the desert hedgehog (DHH) gene in patients with 46,XY complete pure gonadal dysgenesis. 24
15356051 2004
19
Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic factor-1, in a dose-dependent manner. 24
11932325 2002
20
A novel mutation of desert hedgehog in a patient with 46,XY partial gonadal dysgenesis accompanied by minifascicular neuropathy. 24
11017805 2000
21
Clinical review 111: familial sex reversal: a review. 24
10690846 2000
22
A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans. 24
10369247 1999
23
Mutations and sequence variants in the testis-determining region of the Y chromosome in individuals with a 46,XY female phenotype. 24
9150734 1997
24
Mutations in SRY and SOX9: testis-determining genes. 24
9143916 1997
25
Evidence for increased prevalence of SRY mutations in XY females with complete rather than partial gonadal dysgenesis. 24
1415266 1992
26
Nonsyndromic Disorders of Testicular Development 61
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
Show member pathways
10.91 NR5A1 NR0B1
2 10.32 SRY NR0B1

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 steroid hormone receptor activity GO:0003707 9.16 NR5A1 NR0B1
2 nuclear receptor activity GO:0004879 8.96 NR5A1 NR0B1
3 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 8.92 SRY NR5A1 NR0B1 DMRT1

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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