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SRXX
MCID: 46X081
MIFTS: 35

46,xx Sex Reversal (SRXX)

Categories: Bone diseases, Cancer diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive diseases
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Aliases & Classifications for 46,xx Sex Reversal

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MalaCards integrated aliases for 46,xx Sex Reversal:

Name: 46,xx Sex Reversal 11 14
46, Xx Testicular Disorders of Sex Development 43
46,xx Testicular Disorder of Sex Development 11
De La Chapelle Syndrome 11
46,xx Testicular Dsd 11
Xx, Male Syndrome 11
Srxx 11

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Cancer diseases
Anatomical: Endocrine diseases Reproductive diseases Bone diseases
See all MalaCards categories (disease lists)


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Disease Ontology 11 DOID:0111760
MeSH 43 D058531
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Summaries for 46,xx Sex Reversal

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Disease Ontology: 11 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 syndrome with 46,xy disorder of sex development. An important gene associated with 46,xx Sex Reversal is SOX3 (SRY-Box Transcription Factor 3), and among its related pathways/superpathways are Signal Transduction and Nervous system development. Affiliated tissues include testis, prostate and eye, and related phenotypes are homeostasis/metabolism and endocrine/exocrine gland
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Related Diseases for 46,xx Sex Reversal

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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 104)
# Related Disease Score Top Affiliating Genes
1 46,xx sex reversal 1 33.0 SRY SOX9 SOX3 NR5A1 NR0B1
2 syndrome with 46,xy disorder of sex development 30.8 SRY NR5A1
3 turner syndrome 30.2 SRY NR0B1 AMH
4 campomelic dysplasia 30.1 SRY SOX9 NR5A1 FOXL2 DMRT1
5 gynecomastia 30.0 SRY SRD5A2 HSD17B3
6 azoospermia 30.0 WT1 SRD5A2 NR5A1 NR0B1 AMH
7 hypospadias 29.3 WT1 SRY SRD5A2 SOX9 NR5A1 HSD17B3
8 premature menopause 29.0 WT1 WNT4 SRD5A2 SOX9 NR5A1 NR0B1
9 hermaphroditism 29.0 WNT4 SOX9 SOX3 RSPO1 NR5A1 NR0B1
10 hypogonadotropic hypogonadism 28.8 SRD5A2 SOX9 SOX3 NR5A1 NR0B1 HSD17B3
11 gonadal dysgenesis 28.3 WT1 SRY SOX9 SOX3 NR5A1 NR0B1
12 disorder of sexual development 28.0 WT1 WNT4 SRY SRD5A2 SOX9 SOX3
13 cryptorchidism, unilateral or bilateral 27.2 WT1 WNT4 SRD5A2 SOX9 SOX3 RSPO1
14 46,xy sex reversal 26.6 WT1 WNT4 SRY SRD5A2 SOX9 SOX3
15 46,xx sex reversal 4 12.0
16 46,xx sex reversal 2 12.0
17 46,xx sex reversal 3 12.0
18 46,xx sex reversal 5 11.9
19 46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs 11.6
20 palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal 11.4
21 hypogonadism 10.6
22 infertility 10.6
23 testicular disease 10.5
24 46,xx disorder of sex development 10.5
25 prostate cancer 10.3
26 hypertrophy of breast 10.3
27 impotence 10.3
28 endodermal sinus tumor 10.3
29 skin squamous cell carcinoma 10.3
30 palmoplantar keratosis 10.3
31 skin carcinoma 10.3
32 hydrocele 10.3
33 germ cell tumor 10.3
34 pseudovaginal perineoscrotal hypospadias 10.3
35 46, xy disorders of sexual development 10.3
36 penis agenesis 10.3
37 ovarian serous adenofibroma 10.2 WNT4 AMH
38 spermatogenic failure 8 10.2 NR5A1 DMRT1
39 submucous uterine fibroid 10.1 WNT4 AMH
40 male infertility 10.1
41 mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies 10.1 WNT4 AMH
42 mixed germ cell-sex cord neoplasm 10.1 FOXL2 DMRT1
43 down syndrome 10.1
44 malaria, mild 10.1
45 nonsyndromic 46,xx testicular disorders/differences of sex development 10.1
46 partial duplication of the long arm of chromosome 22 10.1
47 ovarian dysgenesis 2 10.1 NR0B1 DMRT1
48 mixed germ cell cancer 10.1 DMRT1 AMH
49 testicular gonadoblastoma 10.1 WT1 AMH
50 47 xxx syndrome 10.1

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



Diseases related to 46,xx Sex Reversal
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Symptoms & Phenotypes for 46,xx Sex Reversal

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.11 AMH DHH DMRT1 FGF9 FOXL2 HSD17B3
2 no effect GR00402-S-2 10.11 AMH DHH DMRT1 FGF9 FOXL2 HSD17B3

MGI Mouse Phenotypes related to 46,xx Sex Reversal:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.13 AMH DHH FGF9 FOXL2 HSD17B3 NR0B1
2 endocrine/exocrine gland MP:0005379 10.09 AMH DHH DMRT1 FGF9 FOXL2 HSD17B3
3 growth/size/body region MP:0005378 10.07 AMH FGF9 FOXL2 HSD17B3 NR2F2 NR5A1
4 no phenotypic analysis MP:0003012 9.97 AMH FOXL2 NR2F2 SOX3 SOX9 SRD5A2
5 embryo MP:0005380 9.56 FGF9 NR2F2 NR5A1 SOX3 SOX9 WNT4
6 reproductive system MP:0005389 9.55 AMH DHH DMRT1 FGF9 FOXL2 HSD17B3
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Drugs & Therapeutics for 46,xx Sex Reversal

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

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

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Genetic Tests for 46,xx Sex Reversal

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Anatomical Context for 46,xx Sex Reversal

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Organs/tissues related to 46,xx Sex Reversal:

MalaCards : Testis, Prostate, Eye
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Publications for 46,xx Sex Reversal

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Articles related to 46,xx Sex Reversal:

(show top 50) (show all 116)
# Title Authors PMID Year
1
Evidence for high breakpoint variability in 46, XX, SRY-positive testicular disorder and frequent ARSE deletion that may be associated with short stature. 62
36026611 2022
2
[Genetic analysis and pathological features of one 46,XX testicular disorder of sex development cases with prostate germ cell tumor]. 62
36082576 2022
3
The importance of genetic research in cases of severe male factor infertility: A case of 46,XX testicular disorder of sex development. 62
34978171 2022
4
iPSCs derived from infertile men carrying complex genetic abnormalities can generate primordial germ-like cells. 62
35995809 2022
5
MAMLD1 and Differences/Disorders of Sex Development: An Update. 62
34695834 2022
6
46, XX Testicular Disorder of Sex Development: A Case Report. 62
35494191 2022
7
A Rare Case of 46, XX (SRY+) With Normal Male Stature and Unilateral Absence of the Vas Deferens. 62
35340794 2021
8
46,XX male syndrome with mullerianosis of the urinary bladder: A new clinical entity. 62
34603965 2021
9
A Novel WT1 Mutation Identified in a 46,XX Testicular/Ovotesticular DSD Patient Results in the Retention of Intron 9. 62
34943163 2021
10
Generation of an induced pluripotent stem cell line GZHMCi008-A derived from a patient with SRY-positive 46,XX testicular disorder of sex development. 62
34710837 2021
11
Exome sequencing for the patients with SRY-negative 46,XX testicular disorder of sex development. 62
33775494 2021
12
A Rare Presentation of Disorder of Sex Development. 62
33628654 2021
13
Erectile function in SRY positive 46,XX males with normal phenotype. 62
33976923 2021
14
Multiscale analysis of SRY-positive 46,XX testicular disorder of sex development: Presentation of nine cases. 62
32882067 2020
15
FGF9 is a downstream target of SRY and sufficient to determine male sex fate in ex vivo XX gonad culture. 62
32886743 2020
16
SRY-Positive 46, XX Testicular Disorder of Sexual Development With Leydig Cell Tumor. 62
33131361 2020
17
Male patient 46,XX SRY-negative and unambiguous genitalia: A case report 62
31860174 2019
18
Detection of SRY-positive46,XX male syndrome by the analysis of cell-free fetal DNA via non-invasive prenatal testing. 62
31624621 2019
19
Patient with Disorders of Sex Development (DSD): A Case Report from a Tertiary Care Hospital in Thiruvananthapuram, India. 62
31423422 2019
20
46,XX Testicular Disorder of Sex Development (DSD): A Case Report and Systematic Review. 62
31336995 2019
21
A 46,XX testicular disorder of sex development caused by a Wilms' tumour Factor-1 (WT1) pathogenic variant. 62
30294972 2019
22
46 XX male syndrome with hypogonadotropic hypogonadism: A case report. 62
31650121 2019
23
A Follow-Up from Infancy to Puberty in a Japanese Male with SRY-Negative 46,XX Testicular Disorder of Sex Development Carrying a p.Arg92Trp Mutation in NR5A1. 62
30739115 2019
24
Molecular cytogenetic analysis and genetic counseling: a case report of eight 46,XX males and a literature review. 62
31700544 2019
25
46,XX Testicular Disorders of Sex Development With DMD Gene Mutation: First Case Report Identified Prenatally by Integrated Analyses in China. 62
32153624 2019
26
Similar Cause, Different Phenotype: SOX9 Enhancer Duplication in a Family. 62
31661700 2019
27
The crucial role of SRY gene in the determination of human genetic sex: 46,XX disorder of sex development. 62
32239110 2019
28
Incidence and diagnoses of disorders of sex development in proximal hypospadias. 62
30224237 2018
29
A Case Report of 46, XX Sex Reversal Syndrome. 62
30336531 2018
30
SOX2: Not always eye malformations. Severe genital but no major ocular anomalies in a female patient with the recurrent c.70del20 variant. 62
29371155 2018
31
[Genetic analysis of a case of 46, XX, SRY－ male syndrome]. 62
30171759 2018
32
Novel RSPO1 mutation causing 46,XX testicular disorder of sex development with palmoplantar keratoderma: A review of literature and expansion of clinical phenotype. 62
29575617 2018
33
A Search for Disorders of Sex Development among Infertile Men. 62
30372699 2018
34
Very late presentation of a disorder of sex development. 62
28493439 2017
35
MECHANISMS IN ENDOCRINOLOGY: Aberrations of the X chromosome as cause of male infertility. 62
28611019 2017
36
Ten cases with 46,XX testicular disorder of sex development: single center experience. 62
28379671 2017
37
Pragmatic approach to intersex, including genital ambiguity, in the newborn. 62
28535943 2017
38
[Analysis of clinical features and related genes variation in five patients with 46, XX male syndrome]. 62
27806792 2016
39
Sertoli cell only syndrome with ambiguous genitalia. 62
27124672 2016
40
SUBMICROSCOPIC DUPLICATION OF 8q24.3 REGION IS A POTENTIAL CANDIDATE FOR DISORDERS OF SEX DEVELOPMENT. 62
30204968 2016
41
A duplication upstream of SOX9 was not positively correlated with the SRY‑negative 46,XX testicular disorder of sex development: A case report and literature review. 62
26260363 2015
42
Refining the regulatory region upstream of SOX9 associated with 46,XX testicular disorders of Sex Development (DSD). 62
25900885 2015
43
Amelogenin test abnormalities revealed in Belarusian population during forensic DNA analysis. 62
25458925 2015
44
46,XX testicular disorder of sexual development with SRY-negative caused by some unidentified mechanisms: a case report and review of the literature. 62
25529318 2014
45
Sexual differentiation anomalies. XX male syndrome. 62
25053575 2014
46
Clinical, molecular and cytogenetic analysis of 46, XX testicular disorder of sex development with SRY-positive. 62
25169080 2014
47
A Korean boy with 46,XX testicular disorder of sex development caused by SOX9 duplication. 62
25077096 2014
48
Fertility issues in the management of patients with disorders of sex development. 62
25247647 2014
49
Gene expression profile during testicular development in patients with SRY-negative 46,XX testicular disorder of sex development. 62
24149105 2013
50
The Sertoli Cell Only Syndrome and Glaucoma in a Sex - Determining Region Y (SRY) Positive XX Infertile Male. 62
23998093 2013
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Variations for 46,xx Sex Reversal

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Expression for 46,xx Sex Reversal

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

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

# Super pathways Score Top Affiliating Genes
1
Signal Transduction 66
13.42 WNT4 SRY SOX9 SOX3 RSPO1 FGF9
2
Nervous system development 66
Show member pathways
 13.17 AMH DHH DMRT1 FGF9 NR2F2 NR5A1
3
Signaling by WNT 66
Show member pathways
 12.47 WNT4 SRY SOX9 SOX3 RSPO1
4
Nuclear receptors 74
Show member pathways
 11.69 NR5A1 NR2F2 NR0B1
5
Deactivation of the beta-catenin transactivating complex 66
11.06 SRY SOX9 SOX3
6
Mammalian disorder of sexual development 74
Show member pathways
 11.05 WT1 WNT4 SRY SOX9 RSPO1 NR5A1
7
FGFR3 signaling in chondrocyte proliferation and terminal differentiation 74
10.89 SOX9 FGF9
8
MAP3K1 role in promoting and blocking gonadal determination 74
10.56 WNT4 SRY SOX9 FOXL2 FGF9
9
Alternative pathway of fetal androgen synthesis 74
10.41 SRD5A2 HSD17B3
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GO Terms for 46,xx Sex Reversal

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

# Name GO ID Score Top Affiliating Genes
1 chromatin GO:0000785 9.53 DMRT1 FOXL2 NR0B1 NR5A1 SOX3 SOX9

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

(show all 30)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.51 DMRT1 FOXL2 NR2F2 NR5A1 SOX3 SOX9
2 negative regulation of transcription by RNA polymerase II GO:0000122 10.45 WT1 SRY SOX9 SOX3 NR2F2 NR0B1
3 negative regulation of DNA-templated transcription GO:0045892 10.4 FOXL2 NR0B1 NR2F2 SOX9 WNT4 WT1
4 positive regulation of DNA-templated transcription GO:0045893 10.4 WT1 WNT4 SRY SOX9 NR5A1 NR2F2
5 positive regulation of gene expression GO:0010628 10.37 AMH FGF9 NR5A1 SOX9 SRY WT1
6 cell differentiation GO:0030154 10.34 WNT4 SRY SRD5A2 SOX9 SOX3 NR2F2
7 regulation of DNA-templated transcription GO:0006355 10.31 ZFX WT1 SRY SOX9 SOX3 NR5A1
8 cell-cell signaling GO:0007267 10.25 SRD5A2 FGF9 DHH AMH
9 branching involved in ureteric bud morphogenesis GO:0001658 10.08 WT1 WNT4 SOX9
10 adrenal gland development GO:0030325 10.06 NR0B1 NR5A1 WNT4 WT1
11 male genitalia development GO:0030539 10.02 WT1 SRD5A2 HSD17B3
12 female gonad development GO:0008585 10.02 WNT4 NR5A1 NR2F2 FOXL2
13 positive regulation of male gonad development GO:2000020 10.02 WT1 SRY SOX9 NR5A1 DMRT1
14 Leydig cell differentiation GO:0033327 10.01 NR5A1 NR0B1 DHH AMH
15 hypothalamus development GO:0021854 9.99 NR0B1 SOX3 SRD5A2
16 sex differentiation GO:0007548 9.97 AMH DMRT1 SRD5A2 SRY WNT4
17 Sertoli cell differentiation GO:0060008 9.96 WNT4 SOX9 NR5A1 NR0B1 DMRT1
18 mesenchymal cell proliferation GO:0010463 9.94 SOX9 FGF9
19 Sertoli cell development GO:0060009 9.94 SOX9 DMRT1
20 regulation of steroid biosynthetic process GO:0050810 9.93 NR5A1 DHH
21 mesenchymal to epithelial transition GO:0060231 9.93 WT1 WNT4
22 androgen biosynthetic process GO:0006702 9.92 SRD5A2 HSD17B3
23 gonad development GO:0008406 9.92 WT1 NR0B1 AMH
24 negative regulation of steroid biosynthetic process GO:0010894 9.91 WNT4 NR0B1
25 testosterone biosynthetic process GO:0061370 9.9 SRD5A2 HSD17B3
26 negative regulation of female gonad development GO:2000195 9.88 WT1 NR5A1
27 renal vesicle induction GO:0072034 9.87 WNT4 SOX9
28 male gonad development GO:0008584 9.83 WT1 WNT4 SRD5A2 SOX9 NR5A1 NR0B1
29 sex determination GO:0007530 9.81 AMH NR0B1 NR5A1 SOX3 WT1
30 male sex determination GO:0030238 9.44 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 transcription activator activity, RNA polymerase II-specific GO:0001228 10.07 ZFX WT1 SOX9 FOXL2 DMRT1
2 DNA binding GO:0003677 10.07 DMRT1 FOXL2 NR2F2 NR5A1 SOX3 SOX9
3 DNA-binding transcription factor activity GO:0003700 10.02 WT1 SRY SOX9 NR5A1 NR2F2 FOXL2
4 sequence-specific DNA binding GO:0043565 9.65 WT1 SOX9 NR5A1 NR2F2 FOXL2 DMRT1
5 RNA polymerase II cis-regulatory region sequence-specific DNA binding GO:0000978 9.58 ZFX WT1 SRY SOX9 SOX3 NR5A1
6 testosterone dehydrogenase [NAD(P)] activity GO:0030283 9.46 SRD5A2 HSD17B3
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Sources for 46,xx Sex Reversal

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2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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