MCID: 46X049
MIFTS: 23

46,xy Sex Reversal 2

Categories: Genetic diseases, Rare 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 75
Dosage-Sensitive Sex Reversal 57 53 75 73
46,xy Sex Reversal, Type 2 29 6 40
Dss 57 53 75
46xy Sex Reversal 2, Dosage-Sensitive 57 13
Srxy2 57 75
46, Xy Disorders of Sex Development 44
Dosage-Sensitive Sex Reversal; Dss 57
46,xy Sex Reversal, Dax1-Related 57
46,xy Sex Reversal Dax1-Related 75

Characteristics:

OMIM:

57
Inheritance:
x-linked


HPO:

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


Classifications:



External Ids:

OMIM 57 300018
MedGen 42 C1848296
MeSH 44 D058490
SNOMED-CT via HPO 69 263934009
UMLS 73 C1848296

Summaries for 46,xy Sex Reversal 2

UniProtKB/Swiss-Prot : 75 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 dengue shock syndrome. An important gene associated with 46,xy Sex Reversal 2 is NR0B1 (Nuclear Receptor Subfamily 0 Group B Member 1). Related phenotype is sex reversal.

Description from OMIM: 300018

Related Diseases for 46,xy Sex Reversal 2

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

Symptoms via clinical synopsis from OMIM:

57
GU:
male-to-female sex reversal

Lab:
normal 46,xy karyotype


Clinical features from OMIM:

300018

Human phenotypes related to 46,xy Sex Reversal 2:

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

Drugs & Therapeutics for 46,xy Sex Reversal 2

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

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

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

Anatomical Context for 46,xy Sex Reversal 2

Publications for 46,xy Sex Reversal 2

Articles related to 46,xy Sex Reversal 2:

(show all 13)
# Title Authors Year
1
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). ( 24104199 )
2014
2
Duplication of dosage sensitive sex reversal area in a 46, XY patient with normal sex determining region of Y causing complete sex reversal. ( 23612644 )
2013
3
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. ( 21409515 )
2011
4
Role of dosage-sensitive sex reversal, adrenal hypoplasia congenita, critical region on the X chromosome, gene 1 in protein kinase A- and protein kinase C-mediated regulation of the steroidogenic acute regulatory protein expression in mouse Leydig tumor cells: mechanism of action. ( 18787026 )
2009
5
DAX-1 (dosage-sensitive sex reversal-adrenal hypoplasia congenita critical region on the X-chromosome, gene 1) selectively inhibits transactivation but not transrepression mediated by the glucocorticoid receptor in a LXXLL-dependent manner. ( 18417736 )
2008
6
Dosage-sensitive sex reversal adrenal hypoplasia congenita critical region on the X chromosome, gene 1 (DAX1) (NR0B1) and small heterodimer partner (SHP) (NR0B2) form homodimers individually, as well as DAX1-SHP heterodimers. ( 16709599 )
2006
7
Generation of two distinct functional isoforms of dosage-sensitive sex reversal-adrenal hypoplasia congenita-critical region on the X chromosome gene 1 (DAX-1) by alternative splicing. ( 15044589 )
2004
8
Regulation of steroidogenesis and steroidogenic acute regulatory protein in R2C cells by DAX-1 (dosage-sensitive sex reversal, adrenal hypoplasia congenita, critical region on the X chromosome, gene-1). ( 15358680 )
2004
9
Dax-1 (dosage-sensitive sex reversal-adrenal hypoplasia congenita critical region on the X chromosome, gene 1) gene transcription is regulated by wnt4 in the female developing gonad. ( 12554773 )
2003
10
Role of the LXXLL-motif and activation function 2 domain in subcellular localization of Dax-1 (dosage-sensitive sex reversal-adrenal hypoplasia congenita critical region on the X chromosome, gene 1). ( 12610109 )
2003
11
Up-regulation of wnt-4 signaling and dosage-sensitive sex reversal in humans. ( 11283799 )
2001
12
Screening for mutations in the steroidogenic acute regulatory protein and steroidogenic factor-1 genes, and in CYP11A and dosage-sensitive sex reversal-adrenal hypoplasia gene on the X chromosome, gene-1 (DAX-1), in hyperandrogenic hirsute women. ( 11297612 )
2001
13
Sex determining gene on the X chromosome short arm: dosage sensitive sex reversal. ( 8840552 )
1996

Variations for 46,xy Sex Reversal 2

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NR0B1 NR0B1, DUP duplication Pathogenic
2 NR0B1 NM_000475.4(NR0B1): c.901C> T (p.Gln301Ter) single nucleotide variant Pathogenic GRCh37 Chromosome X, 30326580: 30326580
3 NR0B1 NM_000475.4(NR0B1): c.901C> T (p.Gln301Ter) single nucleotide variant Pathogenic GRCh38 Chromosome X, 30308463: 30308463
4 NR0B1 NM_000475.4(NR0B1): c.516G> A (p.Trp172Ter) single nucleotide variant Pathogenic GRCh37 Chromosome X, 30326965: 30326965
5 NR0B1 NM_000475.4(NR0B1): c.516G> A (p.Trp172Ter) single nucleotide variant Pathogenic GRCh38 Chromosome X, 30308848: 30308848
6 NR0B1 NM_000475.4(NR0B1): c.552delA (p.Glu185Argfs) deletion Pathogenic GRCh37 Chromosome X, 30326929: 30326929
7 NR0B1 NM_000475.4(NR0B1): c.552delA (p.Glu185Argfs) deletion Pathogenic GRCh38 Chromosome X, 30308812: 30308812
8 NR0B1 NM_000475.4(NR0B1): c.1142T> C (p.Leu381Pro) single nucleotide variant Uncertain significance rs104894899 GRCh37 Chromosome X, 30326339: 30326339
9 NR0B1 NM_000475.4(NR0B1): c.1142T> C (p.Leu381Pro) single nucleotide variant Uncertain significance rs104894899 GRCh38 Chromosome 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
11 DGIdb
17 ExPASy
19 FMA
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32 HPO
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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