SRXY2
MCID: 46X049
MIFTS: 33

46,xy Sex Reversal 2 (SRXY2)

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

Aliases & Classifications for 46,xy Sex Reversal 2

MalaCards integrated aliases for 46,xy Sex Reversal 2:

Name: 46,xy Sex Reversal 2 57 74
Dosage-Sensitive Sex Reversal 57 53 74 72
46xy Sex Reversal 2, Dosage-Sensitive 57 29 13
46,xy Sex Reversal, Type 2 29 6 40
Dss 57 53 74
Srxy2 57 74
Dosage-Sensitive Sex Reversal; Dss 57
Disorder of Sex Development, 46,xy 44
46,xy Sex Reversal, Dax1-Related 57
46,xy Sex Reversal Dax1-Related 74

Characteristics:

OMIM:

57
Inheritance:
x-linked


HPO:

32
46,xy sex reversal 2:
Inheritance x-linked inheritance


Classifications:



External Ids:

MeSH 44 D058490
MedGen 42 C1848296
UMLS 72 C1848296

Summaries for 46,xy Sex Reversal 2

UniProtKB/Swiss-Prot : 74 46,XY sex reversal 2: A condition characterized by male-to-female sex reversal in the presence of a normal 46,XY karyotype.

MalaCards based summary : 46,xy Sex Reversal 2, also known as dosage-sensitive sex reversal, is related to 46,xy sex reversal 3 and syndrome with 46,xy disorder of sex development. An important gene associated with 46,xy Sex Reversal 2 is NR0B1 (Nuclear Receptor Subfamily 0 Group B Member 1). Affiliated tissues include liver, prostate and breast, and related phenotype is sex reversal.

More information from OMIM: 300018 PS400044

Related Diseases for 46,xy Sex Reversal 2

Diseases in the 46,xx Sex Reversal 1 family:

46,xy Sex Reversal 4 46,xy Sex Reversal 7
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

Diseases related to 46,xy Sex Reversal 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 96)
# Related Disease Score Top Affiliating Genes
1 46,xy sex reversal 3 12.0
2 syndrome with 46,xy disorder of sex development 11.9
3 dengue disease 11.9
4 46,xy sex reversal 5 11.7
5 dengue shock syndrome 11.6
6 46,xy ovotesticular disorder of sex development 11.6
7 dengue virus 11.5
8 hypertrophic neuropathy of dejerine-sottas 11.5
9 neuropathy, congenital hypomyelinating, 1, autosomal recessive 11.4
10 neuropathy, congenital hypomyelinating, 2 11.4
11 charcot-marie-tooth disease, demyelinating, type 4f 11.2
12 colitis 11.2
13 inflammatory bowel disease 11.0
14 ulcerative colitis 10.9
15 colorectal cancer 10.5
16 diarrhea 10.4
17 autoimmune disease 10.4
18 crohn's disease 10.4
19 dengue hemorrhagic fever 10.3
20 adenocarcinoma 10.3
21 proteasome-associated autoinflammatory syndrome 1 10.2
22 crohn's colitis 10.2
23 intestinal disease 10.2
24 adenoma 10.2
25 rapidly involuting congenital hemangioma 10.2
26 overgrowth syndrome 10.2
27 multiple sclerosis 10.1
28 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.1
29 deficiency anemia 10.1
30 colorectal adenoma 10.1
31 non-alcoholic steatohepatitis 10.1
32 bacterial infectious disease 10.1
33 iron deficiency anemia 10.1
34 iron metabolism disease 10.1
35 severe combined immunodeficiency 10.1
36 hypereosinophilic syndrome 10.1
37 allergic encephalomyelitis 10.1
38 cytokine deficiency 10.1
39 splenomegaly 10.1
40 androgen insensitivity syndrome 10.0
41 amenorrhea 10.0
42 hypoadrenocorticism, familial 10.0
43 adrenal hypoplasia, congenital 10.0
44 body mass index quantitative trait locus 11 10.0
45 hypogonadotropic hypogonadism 10.0
46 gonadal dysgenesis 10.0
47 sex development disorder 10.0
48 hypogonadism 10.0
49 hypogonadotropism 10.0
50 hair whorl 9.9

Graphical network of the top 20 diseases related to 46,xy Sex Reversal 2:



Diseases related to 46,xy Sex Reversal 2

Symptoms & Phenotypes for 46,xy Sex Reversal 2

Human phenotypes related to 46,xy Sex Reversal 2:

32
# Description HPO Frequency HPO Source Accession
1 sex reversal 32 HP:0012245

Symptoms via clinical synopsis from OMIM:

57
G U:
male-to-female sex reversal

Lab:
normal 46,xy karyotype

Clinical features from OMIM:

300018

Drugs & Therapeutics for 46,xy Sex Reversal 2

Search Clinical Trials , NIH Clinical Center for 46,xy Sex Reversal 2

Cochrane evidence based reviews: disorder of sex development, 46,xy

Genetic Tests for 46,xy Sex Reversal 2

Genetic tests related to 46,xy Sex Reversal 2:

# Genetic test Affiliating Genes
1 46,xy Sex Reversal, Type 2 29 NR0B1
2 46xy Sex Reversal 2, Dosage-Sensitive 29

Anatomical Context for 46,xy Sex Reversal 2

MalaCards organs/tissues related to 46,xy Sex Reversal 2:

41
Liver, Prostate, Breast, Pituitary, B Cells, Testis, Cortex

Publications for 46,xy Sex Reversal 2

Articles related to 46,xy Sex Reversal 2:

(show top 50) (show all 144)
# Title Authors PMID Year
1
Dax1 antagonizes Sry action in mammalian sex determination. 38 8 71
9486644 1998
2
A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal. 38 8
7951319 1994
3
Male-to-female sex reversal associated with an approximately 250 kb deletion upstream of NR0B1 (DAX1). 8
17503084 2007
4
Consensus statement on management of intersex disorders. 71
18947601 2006
5
Report of a kindred with X-linked (or autosomal dominant sex-limited) 46,XY partial gonadal dysgenesis. 8
8496317 1993
6
Genetically determined sex-reversal in 46,XY humans. 8
567843 1978
7
Novel mutations and spectrum of the disease of NR0B1 (DAX1)-related adrenal insufficiency in Indian children. 38
31219797 2019
8
Novel frameshift mutation of the NR0B1(DAX1) in two tall adult brothers. 38
31280422 2019
9
Gene dosage of DAX-1, determining in sexual differentiation: duplication of DAX-1 in two sisters with gonadal dysgenesis. 38
30879272 2019
10
Human fetal adrenal cells retain age-related stem- and endocrine-differentiation potential in culture. 38
30247985 2019
11
Next-Generation Sequencing Identifies Different Genetic Defects in 2 Patients with Primary Adrenal Insufficiency and Gonadotropin-Independent Precocious Puberty. 38
30179867 2018
12
Induced Pluripotent Stem Cells from a Marsupial, the Tasmanian Devil (Sarcophilus harrisii): Insight into the Evolution of Mammalian Pluripotency. 38
29161957 2018
13
Female-to-male sex reversal associated with unique Xp21.2 deletion disrupting genomic regulatory architecture of the dosage-sensitive sex reversal region. 38
28483799 2017
14
Clinical and molecular genetic analysis of a Chinese family with congenital X-linked adrenal hypoplasia caused by novel mutation 1268delA in the DAX-1 gene. 38
26537215 2015
15
Interleukin-6 inhibits adrenal androgen release from bovine adrenal zona reticularis cells by inhibiting the expression of steroidogenic proteins. 38
26218834 2015
16
TNF-α-mediated suppression of Leydig cell steroidogenesis involves DAX-1. 38
26047595 2015
17
Novel mutations of DAX1 (NR0B1) in two Chinese families with X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism. 38
25968435 2015
18
Dynamic pituitary-adrenal interactions in response to cardiac surgery. 38
25517478 2015
19
Androgens inhibit aromatase expression through DAX-1: insights into the molecular link between hormone balance and Leydig cancer development. 38
25603045 2015
20
Gonadotropin-releasing hormone and gonadal steroids regulate transcription factor mRNA expression in primary pituitary and immortalized gonadotrope cells. 38
25563755 2015
21
Presence of 21-Hydroxylase Antibodies in a Boy with X-Linked Adrenal Hypoplasia Congenita. 38
26448365 2015
22
Orphan nuclear receptors as drug targets for the treatment of prostate and breast cancers. 38
25455729 2014
23
The signaling phospholipid PIP3 creates a new interaction surface on the nuclear receptor SF-1. 38
25288771 2014
24
microRNA-181 promotes prostate cancer cell proliferation by regulating DAX-1 expression. 38
25187843 2014
25
Are human male patients with DAX1/NR0B1 mutations infertile? 38
24751136 2014
26
A de novo mutation of DAX1 in a boy with congenital adrenal hypoplasia without hypogonadotropic hypogonadism. 38
24197767 2014
27
Expression of selected genes involved in steroidogenesis in the course of enucleation-induced rat adrenal regeneration. 38
24366092 2014
28
MicroRNA-561 promotes acetaminophen-induced hepatotoxicity in HepG2 cells and primary human hepatocytes through downregulation of the nuclear receptor corepressor dosage-sensitive sex-reversal adrenal hypoplasia congenital critical region on the X chromosome, gene 1 (DAX-1). 38
24104199 2014
29
DAX-1 inhibits hepatocellular carcinoma proliferation by inhibiting β-catenin transcriptional activity. 38
25171651 2014
30
Distinct nuclear receptor expression in stroma adjacent to breast tumors. 38
24122391 2013
31
Central precocious puberty in a patient with X-linked adrenal hypoplasia congenita and Xp21 contiguous gene deletion syndrome. 38
24904859 2013
32
Insulin directly regulates steroidogenesis via induction of the orphan nuclear receptor DAX-1 in testicular Leydig cells. 38
23589295 2013
33
Adrenal hypoplasia congenita presenting as congenital adrenal hyperplasia. 38
23476826 2013
34
Duplication of dosage sensitive sex reversal area in a 46, XY patient with normal sex determining region of Y causing complete sex reversal. 38
23612644 2013
35
X-linked congenital adrenal hypoplasia associated with hypospadias in an Egyptian baby: a case report. 38
23272655 2012
36
Expression of aldosterone synthase and adrenocorticotropic hormone receptor in adrenal incidentalomas from normotensive and hypertensive patients: Distinguishing subclinical or atypical primary aldosteronism from adrenal incidentaloma. 38
23023242 2012
37
Role of SF-1 and DAX-1 during differentiation of P19 cells by retinoic acid. 38
21678401 2012
38
Excess DAX1 leads to XY ovotesticular disorder of sex development (DSD) in mice by inhibiting steroidogenic factor-1 (SF1) activation of the testis enhancer of SRY-box-9 (Sox9). 38
22294746 2012
39
Characteristic induction of steroidogenic factor 1 (SF-1) and DAX-1 and enhanced expression of glucocorticoid synthesis-related genes in adrenals from spontaneously hypertensive rats. 38
22447829 2012
40
Acid ceramidase (ASAH1) is a global regulator of steroidogenic capacity and adrenocortical gene expression. 38
22261821 2012
41
Aldosterone-producing adenoma formation in the adrenal cortex involves expression of stem/progenitor cell markers. 38
21971159 2011
42
DAX-1 and DAX-1A expression in human testicular tissues with primary spermatogenic failure. 38
21775412 2011
43
Hypogonadotropic hypogonadism in subjects with DAX1 mutations. 38
21672607 2011
44
DAX1 suppresses FXR transactivity as a novel co-repressor. 38
21856289 2011
45
Evidence of adrenal failure in aging Dax1-deficient mice. 38
21733829 2011
46
GnRH pulse frequency differentially regulates steroidogenic factor 1 (SF1), dosage-sensitive sex reversal-AHC critical region on the X chromosome gene 1 (DAX1), and serum response factor (SRF): potential mechanism for GnRH pulse frequency regulation of LH beta transcription in the rat. 38
21409515 2011
47
Effects of apigenin on steroidogenesis and steroidogenic acute regulatory gene expression in mouse Leydig cells. 38
20537519 2011
48
47, XY, +der(Y),t(X;Y)(p21.1;p11.2): a unique case of XY sex reversal. 38
21271659 2011
49
Seven novel DAX1 mutations with loss of function identified in Chinese patients with congenital adrenal hypoplasia. 38
20573681 2010
50
Molecular characterisation of a der(Y)t(Xp;Yp) with Xp functional disomy and sex reversal. 38
20845307 2010

Variations for 46,xy Sex Reversal 2

ClinVar genetic disease variations for 46,xy Sex Reversal 2:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 NR0B1 NM_000475.5(NR0B1): c.708G> A (p.Trp236Ter) single nucleotide variant Pathogenic rs1131691564 X:30326773-30326773 X:30308656-30308656
2 NR0B1 NM_000475.5(NR0B1): c.901C> T (p.Gln301Ter) single nucleotide variant Pathogenic rs1555973010 X:30326580-30326580 X:30308463-30308463
3 NR0B1 NM_000475.5(NR0B1): c.552del (p.Glu185fs) deletion Pathogenic rs1555973115 X:30326929-30326929 X:30308812-30308812
4 NR0B1 NM_000475.5(NR0B1): c.528C> G (p.Tyr176Ter) single nucleotide variant Pathogenic X:30326953-30326953 X:30308836-30308836
5 NR0B1 NM_000475.5(NR0B1): c.919G> T (p.Glu307Ter) single nucleotide variant Pathogenic X:30326562-30326562 X:30308445-30308445
6 NR0B1 NM_000475.5(NR0B1): c.516G> A (p.Trp172Ter) single nucleotide variant Pathogenic rs1555973131 X:30326965-30326965 X:30308848-30308848
7 NR0B1 NR0B1, DUP duplication Pathogenic
8 NR0B1 NM_000475.5(NR0B1): c.1142T> C (p.Leu381Pro) single nucleotide variant Uncertain significance rs104894899 X:30326339-30326339 X:30308222-30308222

Expression for 46,xy Sex Reversal 2

Search GEO for disease gene expression data for 46,xy Sex Reversal 2.

Pathways for 46,xy Sex Reversal 2

GO Terms for 46,xy Sex Reversal 2

Sources for 46,xy Sex Reversal 2

3 CDC
7 CNVD
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10 dbSNP
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17 EFO
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
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73 UMLS via Orphanet
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