GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version
46,XY Sex Reversal 1  
Disease Aliases (65)

46 xx gonadal dysgenesis

46 xy gonadal dysgenesis

46, xx with streak gonads

46, xy cgd

46, xy gonadal dysgenesis

46, xy gonadal sex reversal

46, xy complete gonadal dysgenesis

46, xy pure gonadal dysgenesis

46, xy with streak gonads

46,xx gonadal dysgenesis

46,xx ovarian dysgenesis

46,xx complete gonadal dysgenesis

46,xx pure gonadal dysgenesis

46,xy cgd

46,xy complete gonadal dysgenesis

46,xy gonadal dysgenesis, complete, sry-related

46,xy sex reversal, sry-related

46,xy true hermaphroditism, sry-related

46,xy gonadal dysgenesis

46,xy pure gonadal dysgenesis

46,xy sex reversal 1

46,xy sex reversal 1; srxy1

46,xy sex reversal type 1

Complete gonadal dysgenesis, 46, xy

Fsh-ro

Follicular stimulating hormone-resistant ovaries

Gonadal dysgenesis, xx type

Gonadal dysgenesis, 46, xx

Gonadal dysgenesis, 46, xy

Gonadal dysgenesis, 46,xx

Gonadal dysgenesis, 46,xy

Gonadal dysgenesis, xy female type

Gonadal dysgenesis, male

Hypergonadotropic ovarian dysgenesis

Odg1

Ovarian dysgenesis, hypergonadotropic, autosomal recessive

Ovarian dysgenesis, hypergonadotropic, with normal karyotype

Ovarian failure, hypergonadotropic

Ovarian dysgenesis with normal chromosomes

Pure gonadal dysgenesis 46,xy

Pure gonadal dysgenesis, 46, xx

Pure gonadal dysgenesis, 46, xy

Pure gonadal dysgenesis, 46,xx

Pure gonadal dysgenesis

Pure gonadal dysgenesis 46,xx

Sex-reversing locus on x, formerly

Srvx, formerly

Srxy1

Sex reversal, gonadal, 46, xy

Swyer syndrome

Syndrome, swyer

Tdfx, formerly

Testis-determining factor, x-chromosomal, formerly

Xx gonadal dysgenesis

Xx female gonadal dysgenesis

Xx-gd

Xxgd

Xy pure gonadal dysgenesis

Gonadal dysgenesis, 20 type

Ovarian dysgenesis

Ovarian dysgenesis 1

Ovarian dysgenesis 1; odg1

Sex-reversing locus on x

Testis-determining factor, x-chromosomal

Associated Genes (10)
 

NCBI-RefSeq:  WT1   (WT1 transcription factor)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  CBX2   (Chromobox 2)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  DHX37   (DEAH-box helicase 37)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  DHH   (Desert hedgehog signaling molecule)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  DMRT1   (Doublesex and mab-3 related transcription factor 1)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  NR5A1   (Nuclear receptor subfamily 5 group A member 1)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  NR0B1   (Nuclear receptor subfamily 0 group B member 1)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  MAP3K1   (Mitogen-activated protein kinase kinase kinase 1)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  SOX9   (SRY-box transcription factor 9)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  SRY   (Sex determining region Y)

External Links:  gnomAD browser   Ensembl   GeneCards

 


Cross-references of 46,XY sex reversal 1 OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations