MCID: SYN140
MIFTS: 23

Syndrome with 46,xy Disorder of Sex Development

Categories: Endocrine diseases, Fetal diseases, Metabolic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Syndrome with 46,xy Disorder of Sex Development

MalaCards integrated aliases for Syndrome with 46,xy Disorder of Sex Development:

Name: Syndrome with 46,xy Disorder of Sex Development 58
46, Xy Disorder of Sex Development 29
46,xy Disorder of Sex Development 58
Syndrome with 46,xy Dsd 58
46,xy Dsd 58

Classifications:

Orphanet: 58  
Rare endocrine diseases
Developmental anomalies during embryogenesis


External Ids:

MESH via Orphanet 44 D058490
UMLS via Orphanet 72 C2751824

Summaries for Syndrome with 46,xy Disorder of Sex Development

MalaCards based summary : Syndrome with 46,xy Disorder of Sex Development, also known as 46, xy disorder of sex development, is related to genetic 46,xy disorder of sex development of endocrine origin and genetic 46,xy disorder of sex development. The drug Hormones has been mentioned in the context of this disorder. Affiliated tissues include testes, testis and spleen.

Related Diseases for Syndrome with 46,xy Disorder of Sex Development

Diseases in the Sex Development Disorder family:

46,xx Disorder of Sex Development 46,xy Disorder of Sex Development Due to a Cholesterol Synthesis Defect
46,xy Disorder of Sex Development Due to Impaired Androgen Production 46,xy Disorder of Sex Development Due to Testicular Steroidogenesis Defect
46,xy Disorder of Sex Development Due to Adrenal and Testicular Steroidogenesis Defect 46,xy Disorder of Sex Development Due to a Testosterone Synthesis Defect
46,xy Disorder of Sex Development Due to a Defect in Testosterone Metabolism by Peripheral Tissue Syndrome with 46,xy Disorder of Sex Development

Diseases related to Syndrome with 46,xy Disorder of Sex Development via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 75)
# Related Disease Score Top Affiliating Genes
1 genetic 46,xy disorder of sex development of endocrine origin 12.6
2 genetic 46,xy disorder of sex development 12.6
3 46,xy disorder of sex development of gynecological interest 12.6
4 46,xy disorder of sex development due to a cholesterol synthesis defect 12.6
5 46,xy disorder of sex development due to impaired androgen production 12.6
6 46,xy disorder of sex development induced by maternal exposure to endocrine disruptors 12.6
7 46,xy disorder of sex development of endocrine origin 12.6
8 46,xy disorder of sex development due to testicular steroidogenesis defect 12.6
9 46,xy disorder of sex development due to adrenal and testicular steroidogenesis defect 12.6
10 46,xy disorder of sex development due to a testosterone synthesis defect 12.6
11 46,xy disorder of sex development due to a defect in testosterone metabolism by peripheral tissue 12.6
12 leydig cell hypoplasia, type i 12.0
13 46,xy sex reversal 3 11.9
14 hypogonadotropic hypogonadism 23 without anosmia 11.9
15 leydig cell hypoplasia 11.9
16 adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency 11.6
17 17-beta hydroxysteroid dehydrogenase iii deficiency 11.6
18 pseudovaginal perineoscrotal hypospadias 11.6
19 adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete 11.6
20 46,xy sex reversal 8 11.6
21 aromatase deficiency 11.3
22 testicular anomalies with or without congenital heart disease 11.3
23 persistent mullerian duct syndrome 11.3
24 sex development disorder 10.8
25 gonadal dysgenesis 10.7
26 androgen insensitivity syndrome 10.6
27 hypospadias 10.6
28 amenorrhea 10.4
29 46 xy gonadal dysgenesis 10.4
30 46, xy disorders of sexual development 10.4
31 lipoid congenital adrenal hyperplasia 10.2
32 premature ovarian failure 1 10.2
33 hypogonadism 10.2
34 hypogonadotropism 10.2
35 complete androgen insensitivity syndrome 10.2
36 frasier syndrome 10.2
37 androgen insensitivity, partial 10.2
38 gonadal agenesis 10.2
39 autosomal recessive disease 10.2
40 mixed gonadal dysgenesis 10.2
41 infertility 10.2
42 aniridia 1 10.2
43 denys-drash syndrome 10.2
44 gonadoblastoma 10.2
45 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 10.2
46 mirage syndrome 10.2
47 hyperandrogenism 10.2
48 testicular disease 10.1
49 pectus excavatum 10.1
50 cryptorchidism, unilateral or bilateral 10.1

Graphical network of the top 20 diseases related to Syndrome with 46,xy Disorder of Sex Development:



Diseases related to Syndrome with 46,xy Disorder of Sex Development

Symptoms & Phenotypes for Syndrome with 46,xy Disorder of Sex Development

Drugs & Therapeutics for Syndrome with 46,xy Disorder of Sex Development

Drugs for Syndrome with 46,xy Disorder of Sex Development (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hormones

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 COPENHAGEN Minipuberty Study Active, not recruiting NCT02784184

Search NIH Clinical Center for Syndrome with 46,xy Disorder of Sex Development

Genetic Tests for Syndrome with 46,xy Disorder of Sex Development

Genetic tests related to Syndrome with 46,xy Disorder of Sex Development:

# Genetic test Affiliating Genes
1 46, Xy Disorder of Sex Development (dsd) 29

Anatomical Context for Syndrome with 46,xy Disorder of Sex Development

MalaCards organs/tissues related to Syndrome with 46,xy Disorder of Sex Development:

40
Testes, Testis, Spleen, Thymus, Breast, Skin, Ovary

Publications for Syndrome with 46,xy Disorder of Sex Development

Articles related to Syndrome with 46,xy Disorder of Sex Development:

(show top 50) (show all 255)
# Title Authors PMID Year
1
Novel NR5A1 Pathogenic Variants Cause Phenotypic Heterogeneity in 46,XY Disorders of Sex Development. 61
32008008 2020
2
Evaluation of 17β-hydroxysteroid dehydrogenase activity using androgen receptor-mediated transactivation. 61
31614207 2020
3
Analysis of variants in GATA4 and FOG2/ZFPM2 demonstrates benign contribution to 46,XY disorders of sex development. 61
31962012 2020
4
Functional study of a novel c.630delG (p.Y211Tfs*85) mutation in NR5A1 gene in a Chinese boy with 46,XY disorders of sex development. 61
31938931 2020
5
The gene encoding the ketogenic enzyme HMGCS2 displays a unique expression during gonad development in mice. 61
31910233 2020
6
Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome. 61
31337883 2020
7
Genetic Evidence of the Association of DEAH-Box Helicase 37 Defects With 46,XY Gonadal Dysgenesis Spectrum. 61
31287541 2019
8
Breast development and satisfaction in women with disorders/differences of sex development. 61
31774116 2019
9
Perineal hypospadias repair with preservation of a coincidental vagina or perineal utricle in boys with disorders of sex development. 61
31582336 2019
10
Next-Generation Sequencing Reveals Novel Genetic Variants (SRY, DMRT1, NR5A1, DHH, DHX37) in Adults With 46,XY DSD. 61
31745530 2019
11
Management of 46,XY Differences/Disorders of Sex Development (DSD) Throughout Life. 61
31365064 2019
12
EARLY-ONSET GONADOBLASTOMA IN A 13-MONTH-OLD INFANT WITH 46,XY COMPLETE GONADAL DYSGENESIS IDENTIFIED WITH PRENATAL TESTING: A CASE OF CHROMOSOME 9p DELETION. 61
31967076 2019
13
The Natural History of a Man With Ovotesticular 46,XX DSD Caused by a Novel 3-Mb 15q26.2 Deletion Containing NR2F2 Gene. 61
31687637 2019
14
The importance of the multiplex ligation-dependent probe amplification in the identification of a novel two-exon deletion of the NR5A1 gene in a patient with 46,XY differences of sex development. 61
31338750 2019
15
[Preliminary investigation of gender assignment in 46,XY disorders of sex development with severe male undermasculinisation]. 61
31594066 2019
16
Disorders of Sex Development: A 10 Years Experience with 73 Cases from the Kashmir Valley. 61
31803600 2019
17
Compound heterozygous mutations in the luteinizing hormone receptor signal peptide causing 46,XY disorder of sex development. 61
31167162 2019
18
MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development: bioinformatics consideration. 61
30985895 2019
19
Voice dissatisfaction in individuals with a disorder of sex development. 61
31026085 2019
20
Functional analysis of novel desert hedgehog gene variants improves the clinical interpretation of genomic data and provides a more accurate diagnosis for patients with 46,XY differences of sex development. 61
31018998 2019
21
Primary gonadal failure. 61
31327696 2019
22
Frequency of Ambiguous Genitalia in 14,177 Newborns in Turkey. 61
31139765 2019
23
[Gender selection and postoperative follow-up analysis in 85 children with 46, XY disorders of sex development]. 61
31216800 2019
24
Molecular investigation of mutations in androgen receptor and 5-alpha-reductase-2 genes in 46,XY Disorders of Sex Development with normal testicular development. 61
30815925 2019
25
Initial assessment of a child with suspected disorder of sex development. 61
31105293 2019
26
Psychosexual Aspects, Effects of Prenatal Androgen Exposure, and Gender Change in 46,XY Disorders of Sex Development. 61
30388241 2019
27
Is interstitial 8p23 microdeletion responsible of 46,XY gonadal dysgenesis? One case report from birth to puberty. 61
30690934 2019
28
Severe in utero under-virilization in a 46,XY patient with Silver-Russell syndrome with 11p15 loss of methylation. 61
30676999 2019
29
Next generation sequencing (NGS) to improve the diagnosis and management of patients with disorders of sex development (DSD). 61
30668521 2019
30
Sex Assignment and Diagnostics in Infants with Ambiguous Genitalia - A Single-Center Retrospective Study. 61
31466074 2019
31
Characterising SRD5A2 Gene Variants in 37 Indonesian Patients with 5-Alpha-Reductase Type 2 Deficiency. 61
31885560 2019
32
Etiology and Clinical Presentation of Disorders of Sex Development in Kenyan Children and Adolescents. 61
31871452 2019
33
Ambiguous genitalia: An overview of 7 years experience at the Children's Hospital & Institute of Child Health, Lahore, Pakistan. 61
30881414 2019
34
Broad Phenotypes of Disorders/Differences of Sex Development in MAMLD1 Patients Through Oligogenic Disease. 61
31555317 2019
35
Integrating clinical and genetic approaches in the diagnosis of 46,XY disorders of sex development. 61
30496128 2018
36
Incidence and diagnoses of disorders of sex development in proximal hypospadias. 61
30224237 2018
37
Mutant NR5A1/SF-1 in patients with disorders of sex development shows defective activation of the SOX9 TESCO enhancer. 61
30067310 2018
38
Spontaneous virilization around puberty in NR5A1-related 46,XY sex reversal: additional case and a literature review. 61
30224582 2018
39
Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9. 61
30552336 2018
40
Novel NR5A1 mutations found in Chinese patients with 46, XY disorders of sex development. 61
30103258 2018
41
Clinical Spectrum of Disorders of Sex Development: A Cross-sectional Observational Study. 61
30766817 2018
42
A Search for Disorders of Sex Development among Infertile Men. 61
30372699 2018
43
Re: Unexpected Ethical Dilemmas in Sex Assignment in 46,XY DSD Due to 5-Alpha Reductase Type 2 Deficiency. 61
30227559 2018
44
Broad phenotypes in heterozygous NR5A1 46,XY patients with a disorder of sex development: an oligogenic origin? 61
29891883 2018
45
Complete androgen insensitivity syndrome caused by c.1769-1G > C mutation and activation of a cryptic splice acceptor site in the androgen receptor gene. 61
29859233 2018
46
Assembling the jigsaw puzzle: CBX2 isoform 2 and its targets in disorders/differences of sex development. 61
29998616 2018
47
Genetic testing of XY newborns with a suspected disorder of sex development. 61
29782383 2018
48
Biallelic and monoallelic ESR2 variants associated with 46,XY disorders of sex development. 61
29261182 2018
49
Novel homozygous nonsense mutations in LHCGR lead to empty follicle syndrome and 46, XY disorder of sex development. 61
29912377 2018
50
Mutational and functional studies on NR5A1 gene in 46,XY disorders of sex development: identification of six novel loss of function mutations. 61
29935645 2018

Variations for Syndrome with 46,xy Disorder of Sex Development

Expression for Syndrome with 46,xy Disorder of Sex Development

Search GEO for disease gene expression data for Syndrome with 46,xy Disorder of Sex Development.

Pathways for Syndrome with 46,xy Disorder of Sex Development

GO Terms for Syndrome with 46,xy Disorder of Sex Development

Sources for Syndrome with 46,xy Disorder of Sex 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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