SRXX
MCID: 46X081
MIFTS: 34

46,xx Sex Reversal (SRXX)

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

Aliases & Classifications for 46,xx Sex Reversal

MalaCards integrated aliases for 46,xx Sex Reversal:

Name: 46,xx Sex Reversal 12 15 39
46, Xx Testicular Disorders of Sex Development 43
46,xx Testicular Disorder of Sex Development 12
De La Chapelle Syndrome 12
46,xx Testicular Dsd 12
Xx, Male Syndrome 12
Xx Male Syndrome 74
Srxx 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0111760
MeSH 43 D058531

Summaries for 46,xx Sex Reversal

Disease Ontology : 12 A gonadal dysgenesis characterized by presentation of an XX karyotype and male external genitalia ranging from normal to ambiguous.

MalaCards based summary : 46,xx Sex Reversal, also known as 46, xx testicular disorders of sex development, is related to 46,xx sex reversal 1 and hypospadias. An important gene associated with 46,xx Sex Reversal is SRY (Sex Determining Region Y), and among its related pathways/superpathways are Signaling by Wnt and Nuclear Receptor transcription pathway. Affiliated tissues include testes, eye and testis, and related phenotypes are Negative genetic interaction between PTEN-/- and PTEN+/+ and endocrine/exocrine gland

Wikipedia : 74 XX male syndrome, also known as De la Chapelle syndrome, is a rare congenital intersex condition where... more...

Related Diseases for 46,xx Sex Reversal

Diseases in the 46,xx Sex Reversal 1 family:

46,xy Sex Reversal 4 46,xy Sex Reversal 7
46,xy Sex Reversal 11 46,xx Sex Reversal 2
46,xy Sex Reversal 2 46,xx Sex Reversal 3
46,xy Sex Reversal 1 46,xy Sex Reversal 3
46,xy Sex Reversal 5 46,xy Sex Reversal 6
46,xy Sex Reversal 8 46,xy Sex Reversal 9
46,xy Sex Reversal 10 46,xx Sex Reversal 4
46,xx Sex Reversal 5 46,xx Sex Reversal
46,xy Sex Reversal

Diseases related to 46,xx Sex Reversal via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 75)
# Related Disease Score Top Affiliating Genes
1 46,xx sex reversal 1 34.1 SRY SOX9 SOX3 NR5A1 NR0B1
2 hypospadias 30.6 SRY SOX9 NR5A1
3 campomelic dysplasia 30.2 SRY SOX9 SOX10 NR5A1
4 hypogonadotropic hypogonadism 29.3 NR5A1 NR0B1 AMH
5 disorders of sexual development 28.2 WNT4 SOX9 NR5A1 NR0B1 FOXL2 DMRT1
6 cryptorchidism, unilateral or bilateral 27.8 SOX9 SOX3 NR5A1 NR0B1 FGF9 DMRT1
7 hermaphroditism 27.8 WNT4 SRY SOX9 RSPO1 NR0B1 FOXL2
8 gonadal dysgenesis 26.6 SRY SOX9 SOX3 NR5A1 NR0B1 FOXL2
9 46,xx sex reversal 2 13.0
10 46,xx sex reversal 4 13.0
11 46,xx sex reversal 3 12.9
12 46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs 12.8
13 palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal 12.6
14 46,xx sex reversal 5 12.6
15 azoospermia 10.4
16 anorchia 10.4 SRY NR5A1
17 hypogonadism 10.4
18 46,xy sex reversal 1 10.3 SRY SOX9
19 infant gynecomastia 10.3
20 gynecomastia 10.3
21 corticosterone methyloxidase type i deficiency 10.2 NR5A1 NR0B1
22 frasier syndrome 10.2 SRY SOX9 NR5A1
23 spermatogenic failure 8 10.2 NR5A1 DMRT1
24 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 10.2 SOX9 SOX10
25 synovial chondromatosis 10.1 SOX9 FGF9
26 pulmonic stenosis 10.1 SOX3 NR2F2
27 spermatogenic failure 3 10.1
28 autosomal recessive disease 10.1
29 male infertility 10.1
30 keratosis 10.1
31 impotence 10.1
32 skin squamous cell carcinoma 10.1
33 palmoplantar keratosis 10.1
34 infertility 10.1
35 hydrocele 10.1
36 46,xx disorder of sex development 10.1
37 syndrome with 46,xy disorder of sex development 10.1
38 adrenal hypoplasia, congenital 10.1 WNT4 NR5A1 NR0B1
39 ovarian serous adenofibroma 10.1 WNT4 AMH
40 microcystic stromal tumor 10.1 NR5A1 FOXL2
41 ovarian serous cystadenofibroma 10.1 WNT4 AMH
42 adrenal cortical hypofunction 10.1 NR5A1 NR0B1
43 ovarian sex-cord stromal tumor 10.0 NR5A1 FOXL2
44 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 10.0 NR5A1 NR0B1
45 androgen insensitivity syndrome 10.0 SRY NR5A1 AMH
46 46,xy sex reversal 9 10.0 SOX9 NR5A1 AMH
47 nonsyndromic 46,xx testicular disorders of sex development 10.0
48 isolated growth hormone deficiency type iii 10.0 SOX3 FOXL2
49 glycerol kinase deficiency 9.9 NR5A1 NR0B1
50 steroid inherited metabolic disorder 9.9 NR5A1 NR0B1 AMH

Graphical network of the top 20 diseases related to 46,xx Sex Reversal:



Diseases related to 46,xx Sex Reversal

Symptoms & Phenotypes for 46,xx Sex Reversal

GenomeRNAi Phenotypes related to 46,xx Sex Reversal according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Negative genetic interaction between PTEN-/- and PTEN+/+ GR00255-A-3 9.02 AMH DHH FOXL2 SOX10 SOX9

MGI Mouse Phenotypes related to 46,xx Sex Reversal:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.07 AMH DHH DMRT1 FGF9 FOXL2 NR0B1
2 homeostasis/metabolism MP:0005376 9.9 AMH DHH FGF9 FOXL2 NR0B1 NR2F2
3 embryo MP:0005380 9.87 FGF9 NR2F2 NR5A1 SOX10 SOX3 SOX9
4 no phenotypic analysis MP:0003012 9.5 AMH FOXL2 NR2F2 SOX10 SOX3 SOX9
5 reproductive system MP:0005389 9.4 AMH DHH DMRT1 FGF9 FOXL2 NR0B1

Drugs & Therapeutics for 46,xx Sex Reversal

Search Clinical Trials , NIH Clinical Center for 46,xx Sex Reversal

Cochrane evidence based reviews: 46, xx testicular disorders of sex development

Genetic Tests for 46,xx Sex Reversal

Anatomical Context for 46,xx Sex Reversal

MalaCards organs/tissues related to 46,xx Sex Reversal:

40
Testes, Eye, Testis

Publications for 46,xx Sex Reversal

Articles related to 46,xx Sex Reversal:

(show top 50) (show all 72)
# Title Authors PMID Year
1
Detection of SRY-positive46,XX male syndrome by the analysis of cell-free fetal DNA via non-invasive prenatal testing. 61
31624621 2019
2
Patient with Disorders of Sex Development (DSD): A Case Report from a Tertiary Care Hospital in Thiruvananthapuram, India. 61
31423422 2019
3
46,XX Testicular Disorder of Sex Development (DSD): A Case Report and Systematic Review. 61
31336995 2019
4
46 XX male syndrome with hypogonadotropic hypogonadism: A case report. 61
31650121 2019
5
Similar Cause, Different Phenotype: SOX9 Enhancer Duplication in a Family. 61
31661700 2019
6
Molecular cytogenetic analysis and genetic counseling: a case report of eight 46,XX males and a literature review. 61
31700544 2019
7
A Case Report of 46, XX Sex Reversal Syndrome. 61
30336531 2018
8
SOX2: Not always eye malformations. Severe genital but no major ocular anomalies in a female patient with the recurrent c.70del20 variant. 61
29371155 2018
9
[Genetic analysis of a case of 46, XX, SRY´╝Ź male syndrome]. 61
30171759 2018
10
Very late presentation of a disorder of sex development. 61
28493439 2017
11
MECHANISMS IN ENDOCRINOLOGY: Aberrations of the X chromosome as cause of male infertility. 61
28611019 2017
12
[Analysis of clinical features and related genes variation in five patients with 46, XX male syndrome]. 61
27806792 2016
13
Sertoli cell only syndrome with ambiguous genitalia. 61
27124672 2016
14
Amelogenin test abnormalities revealed in Belarusian population during forensic DNA analysis. 61
25458925 2015
15
Sexual differentiation anomalies. XX male syndrome. 61
25053575 2014
16
Clinical, molecular and cytogenetic analysis of 46, XX testicular disorder of sex development with SRY-positive. 61
25169080 2014
17
A Korean boy with 46,XX testicular disorder of sex development caused by SOX9 duplication. 61
25077096 2014
18
The Sertoli Cell Only Syndrome and Glaucoma in a Sex - Determining Region Y (SRY) Positive XX Infertile Male. 61
23998093 2013
19
Cytogenic and molecular analyses of 46,XX male syndrome with clinical comparison to other groups with testicular azoospermia of genetic origin. 61
23380608 2013
20
[46 XX Male syndrome]. 61
22226495 2012
21
XX testicular disorder of sex differentiation: case report. 61
26761113 2011
22
46,XX male - testicular disorder of sexual differentiation (DSD): hormonal, molecular and cytogenetic studies. 61
21340153 2010
23
Low semen volume in 47 adolescents and adults with 47,XXY Klinefelter or 46,XX male syndrome. 61
19515177 2009
24
Genetics of spermatogenic failure. 61
18987499 2008
25
Infertility in a new 46, XX male with positive SRY confirmed by fluorescence in situ hybridization: a case report. 61
19205451 2008
26
[Clinical, molecular and cytogenetic studies on 4 patients with 46, XX (SRY positive) male syndrome]. 61
18284058 2007
27
Clinical, endocrinological, and epigenetic features of the 46,XX male syndrome, compared with 47,XXY Klinefelter patients. 61
17579198 2007
28
Primary male infertility in Kuwait: a cytogenetic and molecular study of 289 infertile Kuwaiti patients. 61
17683468 2007
29
[Analysis on genetic defects of patients with azoospermia and severe oligospermia--report of 2 novel abnormal karyotypes]. 61
16818424 2006
30
Clinical, hormonal and cytogenetic evaluation of 46,XX males and review of the literature. 61
16200839 2005
31
Case report: Y;6 translocation with deletion of 6p. 61
15770132 2005
32
46 XX male syndrome: a case report. 61
16440831 2005
33
45,X/47,XXX/47,XX, del(Y)(p?)/46,XX mosaicism causing true hermaphroditism. 61
15378545 2004
34
46,XX sex reversal with partial duplication of chromosome arm 22q. 61
15108202 2004
35
46,XX sex reversal. 61
11750731 2001
36
Mutation analysis of subjects with 46, XX sex reversal and 46, XY gonadal dysgenesis does not support the involvement of SOX3 in testis determination. 61
11153920 2000
37
XX-male syndrome bearing the sex-determining region Y. 61
10101575 1999
38
Clinical and molecular analysis of XX sex reversed patients. 61
9719302 1998
39
Etiologic classification of severe hypospadias: implications for prognosis and management. 61
9329414 1997
40
Pyovagina and stump pyometra in a neutered XX sex-reversed beagle: a case report. 61
8974032 1997
41
Phenotypical expression in XX males correlates with testicular response to exogenous choriogonadotropin in early infancy: does a variable degree of testicular failure determine the degree of genital ambiguity? 61
8827344 1996
42
Combined Leydig cell and Sertoli cell dysfunction in 46,XX males lacking the sex determining region Y gene. 61
7677147 1995
43
SRY alone can induce normal male sexual differentiation. 61
7726236 1995
44
XX male syndrome in a cryptorchid stallion. 61
7928556 1994
45
Primary infertility in a phenotypic male with 46XX chromosomal constitution. 61
8321801 1993
46
[Chromosomal anomalies in men with infertility]. 61
1755125 1991
47
Clinical management issues in males with sex chromosomal mosaicism and discordant phenotype/sex chromosomal patterns. 61
1995198 1991
48
[Phenotypically a boy, genotypically a girl; the 46,XX male syndrome]. 61
3441910 1987
49
Absence of Y-specific DNA sequences in human 46,XX true hermaphrodites and in 45,X mixed gonadal dysgenesis. 61
3038732 1987
50
LRH-stimulated release of bioactive and immunoreactive LH in a patient with the XX male syndrome. 61
3301372 1987

Variations for 46,xx Sex Reversal

Expression for 46,xx Sex Reversal

Search GEO for disease gene expression data for 46,xx Sex Reversal.

Pathways for 46,xx Sex Reversal

Pathways related to 46,xx Sex Reversal according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.12 WNT4 SRY SOX9 SOX3 RSPO1
2
Show member pathways
11.29 NR5A1 NR2F2 NR0B1
3 10.43 SRY SOX9 SOX3

GO Terms for 46,xx Sex Reversal

Cellular components related to 46,xx Sex Reversal according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 host cell nucleus GO:0042025 9.33 NR5A1 NR2F2 NR0B1
2 nuclear chromatin GO:0000790 9.23 SRY SOX9 SOX3 SOX10 NR5A1 NR0B1
3 nuclear transcription factor complex GO:0044798 9.13 SRY SOX9 SOX3

Biological processes related to 46,xx Sex Reversal according to GeneCards Suite gene sharing:

(show all 34)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 10.13 SRY SOX9 SOX3 SOX10 NR5A1 NR2F2
2 positive regulation of transcription by RNA polymerase II GO:0045944 10.12 SRY SOX9 SOX3 SOX10 NR5A1 FOXL2
3 regulation of transcription by RNA polymerase II GO:0006357 10.08 SOX9 SOX3 SOX10 NR5A1 NR2F2 FOXL2
4 negative regulation of transcription by RNA polymerase II GO:0000122 10.02 SRY SOX9 SOX3 SOX10 NR2F2 NR0B1
5 negative regulation of transcription, DNA-templated GO:0045892 10.01 WNT4 SOX9 SOX10 NR2F2 NR0B1 FOXL2
6 positive regulation of transcription, DNA-templated GO:0045893 10 WNT4 SRY SOX9 SOX10 NR5A1 NR2F2
7 positive regulation of gene expression GO:0010628 9.97 SRY SOX9 SOX10 NR5A1 FGF9 AMH
8 anatomical structure morphogenesis GO:0009653 9.85 SRY SOX3 SOX10 FOXL2
9 transcription initiation from RNA polymerase II promoter GO:0006367 9.83 SOX9 NR5A1 NR0B1
10 male gonad development GO:0008584 9.8 WNT4 SOX9 NR5A1 NR0B1 FGF9 DMRT1
11 steroid hormone mediated signaling pathway GO:0043401 9.77 NR5A1 NR2F2 NR0B1
12 intracellular receptor signaling pathway GO:0030522 9.73 NR5A1 NR2F2 NR0B1
13 cell differentiation GO:0030154 9.73 WNT4 SRY SOX9 SOX3 SOX10 NR5A1
14 sex differentiation GO:0007548 9.71 WNT4 SRY DMRT1 AMH
15 female gonad development GO:0008585 9.7 WNT4 NR5A1 FOXL2
16 adrenal gland development GO:0030325 9.69 WNT4 NR5A1 NR0B1
17 oligodendrocyte differentiation GO:0048709 9.66 SOX9 SOX10
18 pituitary gland development GO:0021983 9.66 SOX3 NR0B1
19 positive regulation of mesenchymal cell proliferation GO:0002053 9.65 SOX9 FGF9
20 morphogenesis of an epithelium GO:0002009 9.65 SOX9 SOX10
21 hormone metabolic process GO:0042445 9.64 WNT4 NR5A1
22 oocyte development GO:0048599 9.64 WNT4 DMRT1
23 hypothalamus development GO:0021854 9.63 SOX3 NR0B1
24 gonad development GO:0008406 9.63 NR0B1 AMH
25 Sertoli cell development GO:0060009 9.62 SOX9 DMRT1
26 Leydig cell differentiation GO:0033327 9.62 NR0B1 DHH
27 regulation of steroid biosynthetic process GO:0050810 9.61 NR5A1 DHH
28 lacrimal gland development GO:0032808 9.61 SOX9 SOX10
29 Sertoli cell differentiation GO:0060008 9.61 SOX9 NR0B1 DMRT1
30 morphogenesis of a branching epithelium GO:0061138 9.58 SOX9 SOX10
31 renal vesicle induction GO:0072034 9.57 WNT4 SOX9
32 positive regulation of male gonad development GO:2000020 9.56 SRY SOX9 NR5A1 DMRT1
33 sex determination GO:0007530 9.46 SOX3 NR5A1 NR0B1 AMH
34 male sex determination GO:0030238 9.17 SRY SOX9 NR5A1 NR0B1 FGF9 DMRT1

Molecular functions related to 46,xx Sex Reversal according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.81 SRY SOX9 SOX3 SOX10 NR5A1 NR2F2
2 chromatin binding GO:0003682 9.78 SOX9 SOX10 NR5A1 DMRT1
3 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.76 SOX9 SOX10 FOXL2 DMRT1
4 sequence-specific DNA binding GO:0043565 9.73 SOX9 NR5A1 NR2F2 NR0B1 FOXL2 DMRT1
5 transcription corepressor activity GO:0003714 9.71 WNT4 SOX3 NR2F2 NR0B1
6 proximal promoter sequence-specific DNA binding GO:0000987 9.61 SOX9 SOX10 DMRT1
7 steroid hormone receptor activity GO:0003707 9.54 NR5A1 NR2F2 NR0B1
8 nuclear receptor activity GO:0004879 9.5 NR5A1 NR2F2 NR0B1
9 DNA-binding transcription factor activity GO:0003700 9.5 SRY SOX9 SOX10 NR5A1 NR2F2 FOXL2
10 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.28 SRY SOX9 SOX3 SOX10 NR5A1 NR2F2

Sources for 46,xx Sex Reversal

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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