MCID: 46X082

46,xy Sex Reversal

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

Aliases & Classifications for 46,xy Sex Reversal

MalaCards integrated aliases for 46,xy Sex Reversal:

Name: 46,xy Sex Reversal 12 43 15 39
Swyer Syndrome 12 73 20 43 58 54 70
Pure Gonadal Dysgenesis 46,xy 12 43 29 6
Gonadal Dysgenesis, 46,xy 43 44 70
Gonadal Dysgenesis, Xy Female Type 20 43
46,xy Complete Gonadal Dysgenesis 43 58
46,xy Cgd 43 58
46, Xy Complete Gonadal Dysgenesis 20
46, Xy Pure Gonadal Dysgenesis 20
46,xy Pure Gonadal Dysgenesis 58
Xy Pure Gonadal Dysgenesis 43
46 Xy Gonadal Dysgenesis 12
46,xy Gonadal Dysgenesis 36
46, Xy Cgd 20


Orphanet epidemiological data:

46,xy complete gonadal dysgenesis
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive,Y-linked; Age of onset: Adolescent,Adult; Age of death: normal life expectancy;


Orphanet: 58  
Rare gynaecological and obstetric diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis

External Ids:

Disease Ontology 12 DOID:14448
KEGG 36 H00607
MeSH 44 D006061
NCIt 50 C120198
ICD10 via Orphanet 33 Q99.1
UMLS via Orphanet 71 C0018054 C2936694
Orphanet 58 ORPHA242
UMLS 70 C0018054 C2936694

Summaries for 46,xy Sex Reversal

MedlinePlus Genetics : 43 Swyer syndrome is a condition that affects sexual development. Sexual development is usually determined by an individual's chromosomes; however, in Swyer syndrome, sexual development does not match the affected individual's chromosomal makeup.People usually have 46 chromosomes in each cell. Two of the 46 chromosomes, known as X and Y, are called sex chromosomes because they help determine whether a person will develop male or female sex characteristics. Girls and women typically have two X chromosomes (46,XX karyotype), while boys and men usually have one X chromosome and one Y chromosome (46,XY karyotype). In Swyer syndrome, individuals with one X chromosome and one Y chromosome in each cell, the pattern typically found in boys and men, have female reproductive structures.People with Swyer syndrome have typical female external genitalia. The uterus and fallopian tubes are normally-formed, but the gonads (ovaries or testes) are not functional; affected individuals have undeveloped clumps of tissue called streak gonads. Because of the lack of development of the gonads, Swyer syndrome is also called 46,XY complete gonadal dysgenesis. The residual gonadal tissue often becomes cancerous, so it is usually removed surgically early in life.People with Swyer syndrome are typically raised as girls and have a female gender identity. Because they do not have functional ovaries, affected individuals usually begin hormone replacement therapy during adolescence to induce menstruation and development of female secondary sex characteristics such as breast enlargement and uterine growth. Hormone replacement therapy also helps reduce the risk of reduced bone density (osteopenia and osteoporosis). Women with this disorder do not produce eggs (ova), but they may be able to become pregnant with a donated egg or embryo.Swyer syndrome usually affects only sexual development; such cases are called isolated Swyer syndrome. However, depending on the genetic cause, Swyer syndrome may also occur along with health conditions such as nerve problems (neuropathy) or as part of a syndrome such as campomelic dysplasia, which causes severe skeletal abnormalities.

MalaCards based summary : 46,xy Sex Reversal, also known as swyer syndrome, is related to 46,xy sex reversal 9 and 46,xy sex reversal 2. An important gene associated with 46,xy Sex Reversal is SRY (Sex Determining Region Y), and among its related pathways/superpathways are Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Diseases of metabolism. Affiliated tissues include testes, testis and uterus, and related phenotypes are polycystic ovaries and male pseudohermaphroditism

Disease Ontology : 12 A gonadal dysgenesis that is characterized by a normal 46,XY karyotype along with a progressive loss of germ cells on the developing gonads of an embryo.

GARD : 20 Swyer syndrome is a genetic condition affecting sexual organ development, classified as a disorder of sex development (DSD). In Swyer syndrome, people with one X chromosome and one Y chromosome, normally present in males, are born with female external genitalia and underdeveloped gonads (ovaries or testes ) known as streak gonads. Most people with Swyer syndrome are raised as females. Adolescents with this condition do not go through normal puberty and are infertile. Some cases of Swyer syndrome are caused by genetic alterations ( mutations ) in one of several genes, but in some cases the cause is unknown. The inheritance pattern depends on the responsible gene. This condition is diagnosed based on the chromosome results, clinical examination, and imaging studies. Treatment includes removal of streak gonads to prevent cancer and hormone replacement therapy from puberty onward. While women with Swyer syndrome are infertile, they may become pregnant with the use of donated eggs.

KEGG : 36 Gonadal dysgenesis (GD) is a disorder of sex development. Formerly, 46,XY GD was also known as 46,XY sex reversal (SRXY). In 46,XY GD, the gonadal histology can range from fibrous streak gonads to partial GD with presence of testicular tissue. The phenotype of patients with 46,XY GD can vary from normal female to genital ambiguity to an undervirilized male. Mutations involving the testis-determining gene SRY, and other genes involved in sex determination, such as the genes WT1, DHH, NR5A1, SOX9, FOG2/ZFPM2 and MAP3K1 have been identified.

Wikipedia : 73 XY gonadal dysgenesis, also known as Swyer syndrome, is a type of hypogonadism in a person whose... more...

Related Diseases for 46,xy 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,xy Sex Reversal via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 140)
# Related Disease Score Top Affiliating Genes
1 46,xy sex reversal 9 33.8 ZFPM2 WT1 SOX9 NR5A1 GATA4
2 46,xy sex reversal 2 33.8 WT1 STAR SOX9 NR5A1 NR0B1 CYP11A1
3 46,xy sex reversal 3 33.8 NR5A1 GATA4
4 adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete 33.7 STAR NR0B1 FDXR FDX1 CYP11A1
5 46,xy sex reversal 11 33.5 SRY DHX37
6 campomelic dysplasia 33.0 SRY SOX9 NR5A1 DMRT1
7 nivelon-nivelon-mabille syndrome 32.9 WT1 SOX9 NR5A1 NR0B1 MAP3K1
8 gonadoblastoma 31.8 WT1 SRY SOX9 NR5A1 NR0B1 DMRT3
9 anorchia 31.4 SRY NR5A1 DHX37
10 disorder of sexual development 31.3 WT1 STAR SOX9 NR5A1 NR0B1 DMRT1
11 frasier syndrome 31.3 WT1 SRY SOX9 NR5A1
12 hermaphroditism 31.3 ZFPM2 SRY SOX9 NR0B1 DMRT1
13 mixed gonadal dysgenesis 31.3 SRY SOX9 NR5A1 DHH
14 nonsyndromic disorders of testicular development 31.2 SRY NR5A1 NR0B1 MAP3K1 DMRT1 DHH
15 46,xy partial gonadal dysgenesis 31.2 ZFPM2 WT1 SRY SOX9 NR5A1 NR0B1
16 denys-drash syndrome 31.2 WT1 NR5A1 NR0B1
17 gonadal dysgenesis 31.2 ZFPM2 WT1 SRY SOX9 NR5A1 NR0B1
18 wilms tumor 1 31.1 WT1 SRY SOX9 NR5A1 NR0B1
19 cryptorchidism, unilateral or bilateral 31.1 ZFPM2 WT1 STAR SOX9 NR5A1 NR0B1
20 46,xx sex reversal 31.0 SRY SOX9 NR5A1 NR0B1 DMRT1 DHH
21 chromosome 9p deletion syndrome 31.0 DOCK8 DMRT3 DMRT1
22 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 31.0 WT1 NR5A1 DMRT3 DMRT1 CBX2
23 androgen insensitivity syndrome 30.9 SRY NR5A1 NR0B1
24 lipoid congenital adrenal hyperplasia 30.9 STAR NR5A1 NR0B1 CYP11A1
25 hypospadias 30.9 WT1 SRY SOX9 NR5A1 GATA4 CYP11A1
26 diaphragmatic hernia, congenital 30.8 ZFPM2 WT1 GATA4
27 pseudohermaphroditism 30.4 WT1 STAR SRY SOX9 NR5A1 NR0B1
28 46,xy sex reversal 7 12.1
29 46,xy sex reversal 5 12.1
30 46,xy sex reversal 6 12.1
31 46,xy sex reversal 1 12.0
32 46,xy sex reversal 4 12.0
33 46,xy sex reversal 8 12.0
34 46,xy sex reversal 10 12.0
35 46,xy gonadal dysgenesis with minifascicular neuropathy 11.8
36 genitopalatocardiac syndrome 11.4
37 dysgerminoma 10.6
38 45,x/46,xy mixed gonadal dysgenesis 10.5 SRY NR0B1 DMRT1 DHH
39 adrenal cortical hypofunction 10.5 STAR NR5A1 NR0B1 CYP11A1
40 adrenal cortex disease 10.5 STAR NR5A1 NR0B1 CYP11A1
41 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 10.5 NR5A1 NR0B1 CYP11A1
42 46,xx sex reversal 1 10.5 SRY SOX9 NR5A1 NR0B1
43 leydig cell tumor 10.5 STAR NR5A1 NR0B1 CYP11A1
44 hypoadrenocorticism, familial 10.5 STAR NR5A1 NR0B1 CYP11A1
45 ovarian gonadoblastoma 10.5 WT1 SOX9 NR0B1 DMRT1
46 corticosterone methyloxidase type i deficiency 10.5 STAR NR5A1 NR0B1 FDX1
47 steroid inherited metabolic disorder 10.5 STAR NR5A1 NR0B1 FDX1 CYP11A1
48 adrenal gland disease 10.5 STAR NR5A1 NR0B1 CYP11A1
49 spermatogenic failure 8 10.5 NR5A1 DMRT3 DMRT1
50 testicular thecoma 10.5 ZFPM2 GATA4

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

Diseases related to 46,xy Sex Reversal

Symptoms & Phenotypes for 46,xy Sex Reversal

Human phenotypes related to 46,xy Sex Reversal:

58 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 polycystic ovaries 58 31 hallmark (90%) Very frequent (99-80%) HP:0000147
2 male pseudohermaphroditism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000037
3 testicular dysgenesis 58 31 hallmark (90%) Very frequent (99-80%) HP:0008715
4 hypogonadotropic hypogonadism 31 hallmark (90%) HP:0000044
5 hypogonadotrophic hypogonadism 58 Very frequent (99-80%)

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

26 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-100 9.55 CBX2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-102 9.55 MAP3K1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-130 9.55 FDX1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-132 9.55 FDX1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-152 9.55 DMRT3
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-167 9.55 DMRT3
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 9.55 CBX2
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-23 9.55 WT1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-35 9.55 DMRT3 MAP3K1 WT1
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-4 9.55 FDX1
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-48 9.55 MAP3K1
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-83 9.55 NR5A1

MGI Mouse Phenotypes related to 46,xy Sex Reversal:

# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.9 CBX2 CYP11A1 DHH DMRT1 GATA4 NR0B1
2 muscle MP:0005369 9.5 CYP11A1 FDX1 GATA4 MAP3K1 SOX9 WT1
3 reproductive system MP:0005389 9.4 CBX2 CYP11A1 DHH DMRT1 DMRT3 GATA4

Drugs & Therapeutics for 46,xy Sex Reversal

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

Cochrane evidence based reviews: gonadal dysgenesis, 46,xy

Genetic Tests for 46,xy Sex Reversal

Genetic tests related to 46,xy Sex Reversal:

# Genetic test Affiliating Genes
1 Pure Gonadal Dysgenesis 46,xy 29

Anatomical Context for 46,xy Sex Reversal

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

Testes, Testis, Uterus, Lymph Node, Pancreas, Adrenal Gland, Ovary

Publications for 46,xy Sex Reversal

Articles related to 46,xy Sex Reversal:

(show top 50) (show all 216)
# Title Authors PMID Year
A new de novo mutation (A113T) in HMG box of the SRY gene leads to XY gonadal dysgenesis. 61 54 6
8105086 1993
A novel missense mutation (S18N) in the 5' non-HMG box region of the SRY gene in a patient with partial gonadal dysgenesis and his normal male relatives. 61 6
9521592 1998
In vitro functional characterization of the novel DHH mutations p.(Asn337Lysfs*24) and p.(Glu212Lys) associated with gonadal dysgenesis. 6
30298535 2018
Functional Analysis of Mutations at Codon 127 of the SRY Gene Associated with 46,XY Complete Gonadal Dysgenesis. 6
28787711 2017
Calmodulin-dependent nuclear import of HMG-box family nuclear factors: importance of the role of SRY in sex reversal. 6
20528776 2010
Ovaries and female phenotype in a girl with 46,XY karyotype and mutations in the CBX2 gene. 6
19361780 2009
Mutations in the desert hedgehog (DHH) gene in patients with 46,XY complete pure gonadal dysgenesis. 6
15356051 2004
True hermaphroditism in an XY individual due to a familial point mutation of the SRY gene. 6
12793612 2003
Biochemical defects in eight SRY missense mutations causing XY gonadal dysgenesis. 6
12409269 2002
Familial mutation in the testis-determining gene SRY shared by an XY female and her normal father. 6
12107262 2002
Identification of a new missense mutation (Gly95Glu) in a highly conserved codon within the high-mobility group box of the sex-determining region Y gene: report on a 46,XY female with gonadal dysgenesis and yolk-sac tumor. 6
10852465 2000
A mutation in the 5' non-high mobility group box region of the SRY gene in patients with Turner syndrome and Y mosaicism. 6
10843173 2000
Independent observation of SRY mutation I90M in a patient with complete gonadal dysgenesis. 6
9450909 1998
A de novo mutation (Gln2Stop) at the 5' end of the SRY gene leads to sex reversal with partial ovarian function. 6
9443877 1998
Mutations and sequence variants in the testis-determining region of the Y chromosome in individuals with a 46,XY female phenotype. 6
9150734 1997
An SRY mutation causing human sex reversal resolves a general mechanism of structure-specific DNA recognition: application to the four-way DNA junction. 6
7718558 1995
Molecular basis of mammalian sexual determination: activation of Müllerian inhibiting substance gene expression by SRY. 6
7985018 1994
A novel nonsense mutation in the HMG box of the SRY gene in a patient with XY sex reversal. 6
7987333 1994
Description and functional implications of a novel mutation in the sex-determining gene SRY. 6
8019555 1994
Analysis of the SRY gene in 22 sex-reversed XY females identifies four new point mutations in the conserved DNA binding domain. 6
8353496 1993
Mutational analysis of SRY in XY females. 6
8257986 1993
A familial mutation in the testis-determining gene SRY shared by both sexes. 6
1483689 1992
XY sex reversal associated with a deletion 5' to the SRY "HMG box" in the testis-determining region. 6
1438307 1992
Evidence for increased prevalence of SRY mutations in XY females with complete rather than partial gonadal dysgenesis. 6
1415266 1992
XY sex reversal associated with a nonsense mutation in SRY. 6
1639410 1992
Analysis of the sex-determining region of the Y chromosome (SRY) in sex reversed patients: point-mutation in SRY causing sex-reversion in a 46,XY female. 6
1619028 1992
Familial case with sequence variant in the testis-determining region associated with two sex phenotypes. 6
1570829 1992
Mutational analysis of SRY: nonsense and missense mutations in XY sex reversal. 6
1339396 1992
DNA binding activity of recombinant SRY from normal males and XY females. 6
1734522 1992
Clinical and pathologic spectrum of 46,XY gonadal dysgenesis: its relevance to the understanding of sex differentiation. 6
1956279 1991
Genetic evidence equating SRY and the testis-determining factor. 6
2247149 1990
A human XY female with a frame shift mutation in the candidate testis-determining gene SRY. 6
2247151 1990
XY female mice resulting from a heritable mutation in the primary testis-determining gene, Tdy. 6
2401216 1990
Identification of a new mutation in the SRY gene in a 46,XY woman with Swyer syndrome. 61 54
18990383 2009
Swyer syndrome with SRY + Y chromosome and rudimentary internal genitalia demonstrating temporary action of antimüllerian hormone in utero: a case report. 61 54
16846094 2006
A novel frame shift mutation in the HMG box of the SRY gene in a patient with complete 46,XY pure gonadal dysgenesis. 61 54
16106197 2005
Description and molecular analysis of SRY and AR genes in a patient with 46,XY pure gonadal dysgenesis (Swyer syndrome). 54 61
15183752 2004
A novel double nucleotide substitution in the HMG box of the SRY gene associated with Swyer syndrome. 54 61
9341876 1997
Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations. 61 54
9002675 1997
The presence of the testicular determining sequence, SRY, in 46,XY females with gonadal dysgenesis (Swyer syndrome). 54 61
1750489 1991
Mode of delivery of women with Swyer syndrome in a German case series. 61
33725759 2021
Amenorrhoea with XY karyotype postbone marrow transplant. 61
33547101 2021
Whole exome sequencing uncovered highly penetrant recessive mutations for a spectrum of rare genetic pediatric diseases in Bangladesh. 61
33594065 2021
A missense mutation (c.226C>A) in HMG box SRY gene affects nNLS function in 46,XY sex reversal female. 61
33570214 2021
A rare case of primary amenorrhoea and breast development in a 46,XY 15-year-old girl. 61
33599439 2021
A Case of 45,X/46,XY Mosaicism Presenting as Swyer Syndrome. 61
32565348 2020
Dysgerminoma in a Prepubertal Girl with Complete 46XY Gonadal Dysgenesis: Case Report and Review of the Literature. 61
32380037 2020
Breast Cancer and Major Deviations of Genetic and Gender-related Structures and Function. 61
32594127 2020
"Spectrum of 46 XY Disorders of Sex Development": A Hospital-based Cross-sectional Study. 61
33088761 2020
46, XY complete gonadal dysgenesis with pubertal virilisation due to dysgerminoma/gonadoblastoma. 61
32641439 2020

Variations for 46,xy Sex Reversal

ClinVar genetic disease variations for 46,xy Sex Reversal:

6 (show top 50) (show all 53)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CBX2 NM_005189.3(CBX2):c.293C>T (p.Pro98Leu) SNV Pathogenic 6826 rs121908255 GRCh37: 17:77757535-77757535
GRCh38: 17:79783736-79783736
2 CBX2 NM_005189.3(CBX2):c.1328G>C (p.Arg443Pro) SNV Pathogenic 6827 rs121908256 GRCh37: 17:77758570-77758570
GRCh38: 17:79784771-79784771
3 SRY NM_003140.3(SRY):c.326T>C (p.Phe109Ser) SNV Pathogenic 9738 rs104894956 GRCh37: Y:2655319-2655319
GRCh38: Y:2787278-2787278
4 SRY NM_003140.3(SRY):c.178G>C (p.Val60Leu) SNV Pathogenic 9739 rs104894957 GRCh37: Y:2655467-2655467
GRCh38: Y:2787426-2787426
5 SRY NM_003140.3(SRY):c.277C>T (p.Gln93Ter) SNV Pathogenic 9740 rs104894958 GRCh37: Y:2655368-2655368
GRCh38: Y:2787327-2787327
6 SRY NM_003140.3(SRY):c.270C>G (p.Ile90Met) SNV Pathogenic 9741 rs104894959 GRCh37: Y:2655375-2655375
GRCh38: Y:2787334-2787334
7 SRY NM_003140.3(SRY):c.317A>T (p.Lys106Ile) SNV Pathogenic 9742 rs104894964 GRCh37: Y:2655328-2655328
GRCh38: Y:2787287-2787287
8 SRY NM_003140.3(SRY):c.324del (p.Phe109fs) Deletion Pathogenic 9743 rs606231179 GRCh37: Y:2655321-2655321
GRCh38: Y:2787280-2787280
9 SRY NM_003140.3(SRY):c.337G>A (p.Ala113Thr) SNV Pathogenic 9744 rs104894966 GRCh37: Y:2655308-2655308
GRCh38: Y:2787267-2787267
10 SRY NM_003140.3(SRY):c.320G>A (p.Trp107Ter) SNV Pathogenic 9745 rs104894967 GRCh37: Y:2655325-2655325
GRCh38: Y:2787284-2787284
11 SRY NM_003140.3(SRY):c.192G>A (p.Met64Ile) SNV Pathogenic 9747 rs104894969 GRCh37: Y:2655453-2655453
GRCh38: Y:2787412-2787412
12 SRY NM_003140.3(SRY):c.209G>A (p.Trp70Ter) SNV Pathogenic 9748 rs104894965 GRCh37: Y:2655436-2655436
GRCh38: Y:2787395-2787395
13 SRY NM_003140.3(SRY):c.274A>T (p.Lys92Ter) SNV Pathogenic 9749 rs104894970 GRCh37: Y:2655371-2655371
GRCh38: Y:2787330-2787330
14 SRY NM_003140.3(SRY):c.283G>C (p.Gly95Arg) SNV Pathogenic 9750 rs104894974 GRCh37: Y:2655362-2655362
GRCh38: Y:2787321-2787321
15 SRY NM_003140.3(SRY):c.12T>A (p.Tyr4Ter) SNV Pathogenic 9751 rs104894975 GRCh37: Y:2655633-2655633
GRCh38: Y:2787592-2787592
16 SRY NM_003140.3(SRY):c.397C>T (p.Arg133Trp) SNV Pathogenic 9752 rs104894976 GRCh37: Y:2655248-2655248
GRCh38: Y:2787207-2787207
17 SRY NM_003140.3(SRY):c.4C>T (p.Gln2Ter) SNV Pathogenic 9753 rs104894977 GRCh37: Y:2655641-2655641
GRCh38: Y:2787600-2787600
18 SRY NM_003140.3(SRY):c.53G>A (p.Ser18Asn) SNV Pathogenic 9754 rs104894971 GRCh37: Y:2655592-2655592
GRCh38: Y:2787551-2787551
19 SRY NM_003140.3(SRY):c.284G>A (p.Gly95Glu) SNV Pathogenic 9755 rs104894972 GRCh37: Y:2655361-2655361
GRCh38: Y:2787320-2787320
20 SRY NM_003140.3(SRY):c.380A>T (p.Tyr127Phe) SNV Pathogenic 9756 rs104894973 GRCh37: Y:2655265-2655265
GRCh38: Y:2787224-2787224
21 SRY NM_003140.3(SRY):c.380A>G (p.Tyr127Cys) SNV Pathogenic 470196 rs104894973 GRCh37: Y:2655265-2655265
GRCh38: Y:2787224-2787224
22 SRY NM_003140.3(SRY):c.89G>T (p.Arg30Ile) SNV Pathogenic 492908 rs1556370576 GRCh37: Y:2655556-2655556
GRCh38: Y:2787515-2787515
23 SRY NM_003140.3(SRY):c.169C>T (p.Gln57Ter) SNV Pathogenic 664404 rs1603308308 GRCh37: Y:2655476-2655476
GRCh38: Y:2787435-2787435
24 SRY NM_003140.3(SRY):c.203T>C (p.Ile68Thr) SNV Pathogenic 9746 rs104894968 GRCh37: Y:2655442-2655442
GRCh38: Y:2787401-2787401
25 SRY NM_003140.3(SRY):c.288C>G (p.Tyr96Ter) SNV Pathogenic 537738 rs1556370548 GRCh37: Y:2655357-2655357
GRCh38: Y:2787316-2787316
26 SRY NM_003140.3(SRY):c.263C>A (p.Ser88Ter) SNV Pathogenic 537739 rs1556370558 GRCh37: Y:2655382-2655382
GRCh38: Y:2787341-2787341
27 SRY NM_003140.3(SRY):c.362_363GA[1] (p.Glu122fs) Microsatellite Pathogenic 9737 rs606231178 GRCh37: Y:2655278-2655281
GRCh38: Y:2787237-2787240
28 SRY NM_003140.3(SRY):c.264dup (p.Glu89fs) Duplication Pathogenic 470195 rs1556370556 GRCh37: Y:2655380-2655381
GRCh38: Y:2787339-2787340
29 SRY NM_003140.3(SRY):c.331C>T (p.Gln111Ter) SNV Pathogenic 436871 rs1556370543 GRCh37: Y:2655314-2655314
GRCh38: Y:2787273-2787273
30 DHH NM_021044.4(DHH):c.485T>C (p.Leu162Pro) SNV Pathogenic 5011 rs111033589 GRCh37: 12:49484991-49484991
GRCh38: 12:49091208-49091208
31 DHH NM_021044.4(DHH):c.1086del (p.Leu363fs) Deletion Pathogenic 5012 rs1592184934 GRCh37: 12:49483747-49483747
GRCh38: 12:49089964-49089964
32 DHH NM_021044.4(DHH):c.528C>A (p.Tyr176Ter) SNV Pathogenic 561187 rs1565573786 GRCh37: 12:49484948-49484948
GRCh38: 12:49091165-49091165
33 DHH NM_021044.4(DHH):c.1011del (p.Asn337fs) Deletion Pathogenic 561188 rs1565572949 GRCh37: 12:49483822-49483822
GRCh38: 12:49090039-49090039
34 DHH NM_021044.4(DHH):c.528C>G (p.Tyr176Ter) SNV Pathogenic 561189 rs1565573786 GRCh37: 12:49484948-49484948
GRCh38: 12:49091165-49091165
35 CBX2 NM_005189.3(CBX2):c.288+37del Deletion Pathogenic 1031514 GRCh37: 17:77755635-77755635
GRCh38: 17:79781836-79781836
36 DHH NM_021044.4(DHH):c.634G>A (p.Glu212Lys) SNV Likely pathogenic 561190 rs1480612338 GRCh37: 12:49484199-49484199
GRCh38: 12:49090416-49090416
37 DHH NM_021044.4(DHH):c.1027T>C (p.Cys343Arg) SNV Likely pathogenic 265768 rs867798393 GRCh37: 12:49483806-49483806
GRCh38: 12:49090023-49090023
38 SRY NM_003140.3(SRY):c.227G>T (p.Arg76Leu) SNV Likely pathogenic 393470 rs1057519627 GRCh37: Y:2655418-2655418
GRCh38: Y:2787377-2787377
39 SRY NM_003140.3(SRY):c.266A>C (p.Glu89Ala) SNV Uncertain significance 492907 rs1556370554 GRCh37: Y:2655379-2655379
GRCh38: Y:2787338-2787338
40 SRY NM_003140.3(SRY):c.570del (p.Ser191fs) Deletion Uncertain significance 652674 rs1603308285 GRCh37: Y:2655075-2655075
GRCh38: Y:2787034-2787034
41 DHH NM_021044.4(DHH):c.860C>A (p.Ala287Glu) SNV Uncertain significance 466305 rs1033987082 GRCh37: 12:49483973-49483973
GRCh38: 12:49090190-49090190
42 DHH NM_021044.4(DHH):c.80G>A (p.Arg27Gln) SNV Uncertain significance 466304 rs779682957 GRCh37: 12:49488216-49488216
GRCh38: 12:49094433-49094433
43 DMRT1 NM_021951.3(DMRT1):c.967G>A (p.Val323Ile) SNV Uncertain significance 988653 GRCh37: 9:916907-916907
GRCh38: 9:916907-916907
44 CBX2 NM_005189.3(CBX2):c.264del (p.Cys89fs) Deletion Uncertain significance 375260 rs1057519060 GRCh37: 17:77755575-77755575
GRCh38: 17:79781776-79781776
45 SRY NM_003140.3(SRY):c.321G>T (p.Trp107Cys) SNV Uncertain significance 1045315 GRCh37: Y:2655324-2655324
GRCh38: Y:2787283-2787283
46 DHH NM_021044.4(DHH):c.980C>A (p.Pro327Gln) SNV Uncertain significance 933985 GRCh37: 12:49483853-49483853
GRCh38: 12:49090070-49090070
47 DHH NM_021044.4(DHH):c.822T>G (p.Phe274Leu) SNV Uncertain significance 948136 GRCh37: 12:49484011-49484011
GRCh38: 12:49090228-49090228
48 SRY NM_003140.3(SRY):c.248C>A (p.Pro83His) SNV Uncertain significance 949914 GRCh37: Y:2655397-2655397
GRCh38: Y:2787356-2787356
49 DHH NM_021044.4(DHH):c.1134T>A (p.Thr378=) SNV Likely benign 309098 rs144444357 GRCh37: 12:49483699-49483699
GRCh38: 12:49089916-49089916
50 SRY NM_003140.3(SRY):c.339A>G (p.Ala113=) SNV Likely benign 752210 rs773247144 GRCh37: Y:2655306-2655306
GRCh38: Y:2787265-2787265

Expression for 46,xy Sex Reversal

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

Pathways for 46,xy Sex Reversal

GO Terms for 46,xy Sex Reversal

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

# Name GO ID Score Top Affiliating Genes
1 chromatin GO:0000785 9.28 ZFPM2 WT1 SRY SOX9 NR5A1 NR0B1

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

(show all 30)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 10.19 WT1 SRY SOX9 NR5A1 GATA4 DMRT3
2 positive regulation of transcription by RNA polymerase II GO:0045944 10.14 ZFPM2 WT1 SRY SOX9 NR5A1 GATA4
3 negative regulation of transcription by RNA polymerase II GO:0000122 10.11 ZFPM2 WT1 SRY SOX9 NR0B1 DMRT1
4 cell differentiation GO:0030154 10.11 ZFPM2 SRY SOX9 NR5A1 NR0B1 DMRT3
5 positive regulation of transcription, DNA-templated GO:0045893 10.07 ZFPM2 WT1 SRY SOX9 NR5A1 GATA4
6 positive regulation of gene expression GO:0010628 10.04 WT1 STAR SRY SOX9 NR5A1
7 cholesterol metabolic process GO:0008203 9.85 STAR FDXR FDX1 CYP11A1
8 steroid metabolic process GO:0008202 9.85 FDXR FDX1 CYP11A1 AKR1C4 AKR1C2
9 steroid biosynthetic process GO:0006694 9.8 STAR FDXR FDX1 CYP11A1
10 cellular response to cAMP GO:0071320 9.76 WT1 STAR FDX1
11 sterol metabolic process GO:0016125 9.71 FDXR FDX1 CYP11A1
12 adrenal gland development GO:0030325 9.7 WT1 NR5A1 NR0B1
13 male gonad development GO:0008584 9.7 WT1 STAR SOX9 NR5A1 NR0B1 GATA4
14 sex differentiation GO:0007548 9.67 SRY DMRT3 DMRT1 CBX2
15 regulation of steroid biosynthetic process GO:0050810 9.65 STAR NR5A1 DHH
16 gonad development GO:0008406 9.64 WT1 NR0B1
17 Leydig cell differentiation GO:0033327 9.63 NR0B1 DHH
18 progesterone metabolic process GO:0042448 9.63 AKR1C4 AKR1C2
19 doxorubicin metabolic process GO:0044598 9.62 AKR1C4 AKR1C2
20 daunorubicin metabolic process GO:0044597 9.62 AKR1C4 AKR1C2
21 cellular response to gonadotropin stimulus GO:0071371 9.61 WT1 STAR
22 Sertoli cell development GO:0060009 9.61 SOX9 DMRT1
23 sex determination GO:0007530 9.61 WT1 NR5A1 NR0B1
24 cellular response to jasmonic acid stimulus GO:0071395 9.58 AKR1C4 AKR1C2
25 Sertoli cell differentiation GO:0060008 9.58 SOX9 NR0B1 DMRT1
26 male sex differentiation GO:0046661 9.56 DMRT3 DMRT1
27 C21-steroid hormone biosynthetic process GO:0006700 9.56 STAR FDXR FDX1 CYP11A1
28 negative regulation of female gonad development GO:2000195 9.5 ZFPM2 WT1 NR5A1
29 male sex determination GO:0030238 9.43 SRY SOX9 NR5A1 NR0B1 DMRT1 DHH
30 positive regulation of male gonad development GO:2000020 9.17 ZFPM2 WT1 SRY SOX9 NR5A1 DMRT1

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 10.04 WT1 SRY SOX9 NR5A1 GATA4 DMRT3
2 zinc ion binding GO:0008270 10 ZFPM2 WT1 NR5A1 MAP3K1 GATA4 DHH
3 DNA binding GO:0003677 9.97 ZFPM2 WT1 SRY SOX9 NR5A1 GATA4
4 sequence-specific double-stranded DNA binding GO:1990837 9.95 SOX9 NR5A1 GATA4 DMRT3 DMRT1
5 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.91 WT1 SRY SOX9 NR5A1 GATA4 DMRT3
6 transcription factor binding GO:0008134 9.87 ZFPM2 SRY NR0B1 GATA4
7 proximal promoter sequence-specific DNA binding GO:0000987 9.65 SOX9 GATA4 DMRT1
8 estradiol 17-beta-dehydrogenase activity GO:0004303 9.56 AKR1C4 AKR1C2
9 alditol:NADP+ 1-oxidoreductase activity GO:0004032 9.54 AKR1C4 AKR1C2
10 bile acid binding GO:0032052 9.51 AKR1C4 AKR1C2
11 androstan-3-alpha,17-beta-diol dehydrogenase activity GO:0047044 9.46 AKR1C4 AKR1C2
12 oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor GO:0016655 9.43 AKR1C4 AKR1C2
13 sequence-specific DNA binding GO:0043565 9.43 WT1 SOX9 NR5A1 GATA4 DMRT3 DMRT1
14 steroid dehydrogenase activity GO:0016229 9.4 AKR1C4 AKR1C2
15 androsterone dehydrogenase activity GO:0047023 9.26 AKR1C4 AKR1C2
16 DNA-binding transcription factor activity GO:0003700 9.17 WT1 SRY SOX9 NR5A1 GATA4 DMRT3
17 ketosteroid monooxygenase activity GO:0047086 9.16 AKR1C4 AKR1C2

Sources for 46,xy Sex Reversal

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
69 Tocris
71 UMLS via Orphanet
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