MCID: 46X082
MIFTS: 50

46,xy Sex Reversal

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

MalaCards integrated aliases for 46,xy Sex Reversal:

Name: 46,xy Sex Reversal 11 42 14
Swyer Syndrome 11 19 42 58 75 53 71 33
Pure Gonadal Dysgenesis 46,xy 11 42 28 5
Gonadal Dysgenesis, Xy Female Type 19 75 33
Gonadal Dysgenesis, 46,xy 42 43 71
46,xy Complete Gonadal Dysgenesis 42 58
46,xy Pure Gonadal Dysgenesis 58 33
46,xy Cgd 42 58
46, Xy Complete Gonadal Dysgenesis 19
46, Xy Pure Gonadal Dysgenesis 19
Female with 46,xy Karyotype 33
Xy Pure Gonadal Dysgenesis 42
46 Xy Gonadal Dysgenesis 11
46, Xy Cgd 19
Xy Females 33

Characteristics:


Inheritance:

46,xy Complete Gonadal Dysgenesis: Autosomal dominant,Autosomal recessive,X-linked recessive,Y-linked 58

Prevelance:

46,xy Complete Gonadal Dysgenesis: <1/1000000 (Denmark) 1-9/100000 (Denmark) 58

Age Of Onset:

46,xy Complete Gonadal Dysgenesis: Adolescent,Adult 58

Classifications:

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


External Ids:

Disease Ontology 11 DOID:14448
MeSH 43 D006061
NCIt 49 C120198
ICD10 via Orphanet 32 Q99.1
UMLS via Orphanet 72 C0018054 C2936694
Orphanet 58 ORPHA242
ICD11 33 1844256276
UMLS 71 C0018054 C2936694

Summaries for 46,xy Sex Reversal

MedlinePlus Genetics: 42 Swyer syndrome is a condition that affects sex development. Sex development usually follows a particular path based on an individual's chromosomes; however, in Swyer syndrome, sex development is not typical for the affected individual's chromosomal pattern. Chromosomes contain the genetic instructions for how the body develops and functions. 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 reproductive structures. Girls and women typically have two X chromosomes (46,XX karyotype), while boys and men typically have one X chromosome and one Y chromosome (46,XY karyotype). In Swyer syndrome, individuals have one X chromosome and one Y chromosome in each cell, which is the pattern typically found in boys and men; however, they have female reproductive structures. People with Swyer syndrome have female external genitalia and some female internal reproductive structures. These individuals usually have a uterus and fallopian tubes, but their gonads (ovaries or testes) are not functional. Instead, the gonads are small and underdeveloped and contain little gonadal tissue. These structures are called  streak gonads. The streak gonadal tissue is at risk of developing cancer that is often hard-to-detect, so it is usually removed surgically. Swyer syndrome is also called 46,XY complete gonadal dysgenesis; the medical term “dysgenesis” means "abnormal development." Because they appear female on the outside, babies with Swyer syndrome are usually raised as girls and develop a female gender identity, which is a person's sense of their gender (girl, boy, a combination, or neither). Swyer syndrome may be identified before birth, at birth, or later when a child does not go through puberty as usual. Because they do not have functional ovaries that produce hormones, affected individuals often begin hormone replacement therapy during early adolescence to start puberty, causing the breasts and uterus to grow, and eventually leading to menstruation. Hormone replacement therapy is also important for bone health and helps reduce the risk of low bone density (osteopenia) and fragile bones (osteoporosis). Women with Swyer syndrome do not produce eggs (ova), but if they have a uterus, they may be able to become pregnant with a donated egg or embryo.

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 AR (Androgen Receptor), and among its related pathways/superpathways are Nervous system development and Metabolism of steroids. Affiliated tissues include uterus, testes and bone, and related phenotypes are polycystic ovaries and male pseudohermaphroditism

GARD: 19 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 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. While women with Swyer syndrome are infertile, they may become pregnant with the use of donated eggs.

Orphanet: 58 A rare disorder/difference of sex development (DSD) associated with absence in gonadal development that results in the presence of female appearing external and internal genitalia in presence of a 46,XY karyotype.

Disease Ontology: 11 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.

Wikipedia: 75 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 194)
# Related Disease Score Top Affiliating Genes
1 46,xy sex reversal 9 33.7 ZFPM2 WT1 SOX9 NR5A1 AR AMH
2 46,xy sex reversal 2 33.6 WT1 WNT4 STAR SOX9 NR5A2 NR5A1
3 adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete 33.5 STAR NR5A1 NR0B1 CYP11A1
4 46,xy sex reversal 11 33.4 SRY DHX37
5 campomelic dysplasia 33.1 SRY SOX9 NR5A1 DMRT1
6 46,xy sex reversal 8 33.0 AKR1C4 AKR1C2
7 gonadoblastoma 31.7 WT1 SRY SOX9 NR5A1 NR0B1 DMRT1
8 turner syndrome 31.4 SRY NR0B1 AR AMH
9 46,xx sex reversal 1 31.3 SRY SOX9 NR5A1 NR0B1
10 46,xy partial gonadal dysgenesis 31.2 ZFPM2 WT1 SRY SOX9 NR5A1 NR0B1
11 frasier syndrome 31.2 WT1 SRY SOX9 NR5A1 NR0B1
12 mixed gonadal dysgenesis 31.2 SRY SOX9 NR5A1 NR0B1 DMRT1 AMH
13 gonadal dysgenesis 31.1 ZFPM2 WT1 SRY SOX9 NR5A1 NR0B1
14 hermaphroditism 31.1 ZFPM2 WNT4 SOX9 NR5A1 NR0B1 DMRT1
15 wilms tumor 1 31.1 WT1 WNT4 SOX9 NR5A1 NR0B1
16 disorder of sexual development 31.1 ZFPM2 WT1 WNT4 STAR SRY SOX9
17 syndrome with 46,xy disorder of sex development 30.9 SRY NR5A1
18 androgen insensitivity syndrome 30.9 SRY NR5A1 NR0B1 DMRT1 AR AMH
19 cryptorchidism, unilateral or bilateral 30.9 ZFPM2 WT1 WNT4 STAR SOX9 NR5A1
20 renal hypodysplasia/aplasia 1 30.9 WT1 WNT4 AMH
21 gender incongruence 30.9 AR AMH
22 hypospadias 30.8 WT1 SRY SOX9 NR5A1 CYP11A1 AR
23 46,xx sex reversal 30.8 WT1 WNT4 SRY SOX9 NR5A1 NR0B1
24 azoospermia 30.8 WT1 NR5A1 NR0B1 AR AMH
25 mixed germ cell cancer 30.8 DMRT1 AMH
26 lipoid congenital adrenal hyperplasia 30.7 WNT4 STAR SRY NR5A1 NR0B1 DMRT1
27 premature menopause 30.7 WT1 WNT4 STAR SOX9 NR5A2 NR5A1
28 hypogonadotropic hypogonadism 30.6 STAR SOX9 NR5A1 NR0B1 DMRT1 AR
29 androgen insensitivity, partial 30.5 NR5A1 NR0B1 AR AMH
30 complete androgen insensitivity syndrome 30.5 SRY NR5A1 NR0B1 DMRT1 AR AMH
31 pseudohermaphroditism 30.3 WT1 WNT4 STAR SRY SOX9 NR5A1
32 46,xy sex reversal 5 12.1
33 46,xy sex reversal 6 12.1
34 46,xy sex reversal 1 12.0
35 46,xy sex reversal 7 12.0
36 46,xy sex reversal 3 12.0
37 46,xy sex reversal 4 12.0
38 46,xy sex reversal 10 12.0
39 46,xy gonadal dysgenesis with minifascicular neuropathy 11.9
40 genitopalatocardiac syndrome 11.6
41 nivelon-nivelon-mabille syndrome 11.4
42 down syndrome 10.7
43 dysgerminoma 10.6
44 spermatogenic failure 8 10.5 NR5A1 DMRT1 AR
45 testicular granulosa cell tumor 10.5 WT1 AMH
46 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.5
47 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 10.5 NR5A1 NR0B1 CYP11A1
48 corticosterone methyloxidase type i deficiency 10.5 STAR NR5A1 NR0B1 CYP11A1
49 adrenal cortical hypofunction 10.5 STAR NR5A1 NR0B1 CYP11A1
50 adrenal hypoplasia, congenital 10.5 STAR NR5A1 NR0B1 CYP11A1

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 30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 polycystic ovaries 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000147
2 male pseudohermaphroditism 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000037
3 testicular dysgenesis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008715
4 hypogonadotropic hypogonadism 30 Hallmark (90%) HP:0000044
5 hypogonadotrophic hypogonadism 58 Very frequent (99-80%)

MGI Mouse Phenotypes related to 46,xy Sex Reversal:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.2 AKR1C2 AKR1C4 AMH AR CYP11A1 DHH
2 endocrine/exocrine gland MP:0005379 10.13 AMH AR CBX2 CYP11A1 DHH DMRT1
3 cellular MP:0005384 9.9 AR CBX2 CYP11A1 DMRT1 MAP3K1 NR0B1
4 reproductive system MP:0005389 9.83 AMH AR CBX2 CYP11A1 DHH DMRT1
5 mortality/aging MP:0010768 9.47 AR CBX2 CYP11A1 DHX37 LCOR MAP3K1

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 28

Anatomical Context for 46,xy Sex Reversal

Organs/tissues related to 46,xy Sex Reversal:

MalaCards : Uterus, Testes, Bone, Testis, Breast, Lymph Node, Ovary

Publications for 46,xy Sex Reversal

Articles related to 46,xy Sex Reversal:

(show top 50) (show all 688)
# Title Authors PMID Year
1
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort. 5
27899157 2016
2
Genotype versus phenotype in families with androgen insensitivity syndrome. 5
11549642 2001
3
Identification of a new mutation in the SRY gene in a 46,XY woman with Swyer syndrome. 53 62
18990383 2009
4
Identification of a novel mutation in the SRY gene in a 46, XY female patient. 53 62
16675314 2006
5
Swyer syndrome with SRY + Y chromosome and rudimentary internal genitalia demonstrating temporary action of antimüllerian hormone in utero: a case report. 53 62
16846094 2006
6
A novel frame shift mutation in the HMG box of the SRY gene in a patient with complete 46,XY pure gonadal dysgenesis. 53 62
16106197 2005
7
Description and molecular analysis of SRY and AR genes in a patient with 46,XY pure gonadal dysgenesis (Swyer syndrome). 53 62
15183752 2004
8
Mutation analysis of subjects with 46, XX sex reversal and 46, XY gonadal dysgenesis does not support the involvement of SOX3 in testis determination. 53 62
11153920 2000
9
A novel double nucleotide substitution in the HMG box of the SRY gene associated with Swyer syndrome. 53 62
9341876 1997
10
Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations. 53 62
9002675 1997
11
A new de novo mutation (A113T) in HMG box of the SRY gene leads to XY gonadal dysgenesis. 53 62
8105086 1993
12
The presence of the testicular determining sequence, SRY, in 46,XY females with gonadal dysgenesis (Swyer syndrome). 53 62
1750489 1991
13
FGF9 variant in 46,XY DSD patient suggests a role for dimerization in sex determination. 62
36349847 2022
14
Fertility in Individuals with Differences in Sex Development: Provider Knowledge Assessment. 62
35296452 2022
15
Muscle spasms as presenting feature of Nivelon-Nivelon-Mabile syndrome. 62
36271814 2022
16
Novel mutation of MAP3K1 gene in 46,XY DSD with complete gonadal dysgenesis. 62
36088066 2022
17
Disruption of the topologically associated domain at Xp21.2 is related to 46,XY gonadal dysgenesis. 62
36227713 2022
18
SOX9 in organogenesis: shared and unique transcriptional functions. 62
36114905 2022
19
Anomalies in Human Sex Determination: Usefulness of a Combined Cytogenetic Approach to Characterize an Additional Case with Xp Functional Disomy Associated to 46,XY Gonadal Dysgenesis. 62
35984215 2022
20
The Mysteries of Primary Amenorrhea: Swyer Syndrome. 62
36158407 2022
21
SOX9 and SRY binding sites on mouse mXYSRa/Enh13 enhancer redundantly regulate Sox9 expression to varying degrees. 62
35921234 2022
22
Ulerythema ophryogenes in association with MAP3K1-mutated Swyer syndrome. 62
35755173 2022
23
Dysgerminoma in a 15 years old phenotypically female Swyer syndrome with 46, XY pure gonadal dysgenesis: A case report. 62
35846908 2022
24
A Successful New Case of Twin Pregnancy in a Patient with Swyer Syndrome-An Up-to-Date Review on the Incidence and Outcome of Twin/Multiple Gestations in the Pure 46,XY Gonadal Dysgenesis. 62
35564421 2022
25
Role of the X and Y Chromosomes in the Female Germ Cell Line Development in the Mouse (Mus musculus). 62
35235936 2022
26
Novel androgen receptor gene variant containing a frameshift mutation in a patient with complete androgen insensitivity syndrome. 62
34700362 2022
27
A nonfunctional copy of the salmonid sex-determining gene (sdY) is responsible for the "apparent" XY females in Chinook salmon, Oncorhynchus tshawytscha. 62
35100376 2022
28
WAGR, Sex Reversal, Bilateral Gonadoblastomas, and Intralobar Nephrogenic Rests: Uncertainties of Pre-Biopsy Chemotherapy in a High Risk Syndrome for Nephroblastoma. 62
35199613 2022
29
Expanding the spectrum of syndromic PPP2R3C-related XY gonadal dysgenesis to XX gonadal dysgenesis. 62
34750818 2022
30
Case Report: Novel Compound Heterozygotic Variants in PPP2R3C Gene Causing Syndromic 46, XY Gonadal Dysgenesis and Literature Review. 62
35812758 2022
31
Genetics of 46,XY gonadal dysgenesis. 62
35249806 2022
32
DMRT1: An Ancient Sexual Regulator Required for Human Gonadogenesis. 62
34515237 2022
33
Pathogenic Variants in MAP3K1 Cause 46,XY Gonadal Dysgenesis: A Review. 62
35290982 2022
34
A 15-20-year follow-up of mental health, psychosocial functioning and quality of life in a single center sample of individuals with differences in sex development. 62
36105256 2022
35
DHX37 and 46,XY DSD: A New Ribosomopathy? 62
35835064 2022
36
A Homozygous Missense Variant in Hedgehog Acyltransferase (HHAT) Gene Associated with 46,XY Gonadal Dysgenesis. 62
35045414 2022
37
Case Report: Long-term follow-up of desert hedgehog variant caused 46, XY gonadal dysgenesis with multiple complications in a Chinese child. 62
36072668 2022
38
Gonadal tumor risk in pediatric and adolescent phenotypic females with disorders of sex development and Y chromosomal constitution with different genetic etiologies. 62
35935368 2022
39
Tenuous Transcriptional Threshold of Human Sex Determination. I. SRY and Swyer Syndrome at the Edge of Ambiguity. 62
35957822 2022
40
The Desert Hedgehog Signalling Pathway in Human Gonadal Development and Differences of Sex Development. 62
34518472 2022
41
Complete gonadal dysgenesis analysis in the population of Latvia: malignant outcomes and a review of literature. 62
35720238 2022
42
Swyer Syndrome: A Case of Dysgerminoma Solely within the Fallopian Tube. 62
33989803 2021
43
Bilateral Gonadoblastoma Overgrown by Dysgerminoma of the Right Gonad in a Patient with Swyer Syndrome. 62
35261680 2021
44
Swyer Syndrome/46 XY Gonadal Dysgenesis: Remove the Tubes or Not? 62
34742465 2021
45
Broad-spectrum XX and XY gonadal dysgenesis in patients with a homozygous L193S variant in PPP2R3C. 62
34714774 2021
46
Unusual Mammalian Sex Determination Systems: A Cabinet of Curiosities. 62
34828376 2021
47
Two successful pregnancies after in vitro fertilisation with oocyte donation in a patient with Swyer syndrome - a case report. 62
34703418 2021
48
On the Form and Origins of the Bizarre Sex Chromosomal System of the Mandarin Vole. 62
33884423 2021
49
A Novel Intronic Splice-Site Mutation of the CYP11A1 Gene Linked to Adrenal Insufficiency with 46,XY Disorder of Sex Development. 62
34281122 2021
50
Mode of delivery of women with Swyer syndrome in a German case series. 62
33725759 2021

Variations for 46,xy Sex Reversal

ClinVar genetic disease variations for 46,xy Sex Reversal:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 AR NM_000044.6(AR):c.1462C>T (p.Gln488Ter) SNV Pathogenic
988321 rs1929774367 GRCh37: X:66766450-66766450
GRCh38: X:67546608-67546608
2 DMRT1 NM_021951.3(DMRT1):c.967G>A (p.Val323Ile) SNV Uncertain Significance
988653 rs746758951 GRCh37: 9:916907-916907
GRCh38: 9:916907-916907
3 CHD7 NM_017780.4(CHD7):c.4388T>C (p.Leu1463Pro) SNV Uncertain Significance
1344532 GRCh37: 8:61750669-61750669
GRCh38: 8:60838110-60838110

Expression for 46,xy Sex Reversal

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

Pathways for 46,xy Sex Reversal



Pathways directly related to 46,xy Sex Reversal:

# Pathway Source
1 Hh mutants are degraded by ERAD Reactome 66
2 HHAT G278V doesn't palmitoylate Hh-Np Reactome 66

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.42 ZFPM2 WT1 SRY SOX9 NR5A2 NR5A1
2
Show member pathways
12.32 STAR CYP11A1 AKR1C4 AKR1C2
3
Show member pathways
11.64 NR5A2 NR5A1 NR0B1 AR
4
Show member pathways
11.5 SOX9 CYP11A1 AKR1C2
5 11.23 SRY NR0B1 AR
6 11.08 AMH CYP11A1 STAR
7
Show member pathways
11.01 ZFPM2 WT1 WNT4 SRY SOX9 NR5A1
8 10.86 AKR1C4 AKR1C2
9 10.66 WNT4 SRY SOX9 MAP3K1
10 10.3 STAR CYP11A1 AKR1C4 AKR1C2

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 9.53 ZFPM2 SRY SOX9 NR5A2 NR5A1 NR0B1

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

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.54 ZFPM2 WT1 SRY SOX9 NR5A2 NR5A1
2 negative regulation of transcription by RNA polymerase II GO:0000122 10.46 AR CBX2 DMRT1 LCOR NR0B1 SOX9
3 positive regulation of gene expression GO:0010628 10.38 AMH AR NR5A1 SOX9 SRY WT1
4 positive regulation of DNA-templated transcription GO:0045893 10.37 ZFPM2 WT1 WNT4 SRY SOX9 NR5A2
5 cell differentiation GO:0030154 10.3 ZFPM2 WNT4 SRY SOX9 DMRT1 CBX2
6 male gonad development GO:0008584 10.13 AR DMRT1 NR0B1 NR5A1 SOX9 WNT4
7 branching involved in ureteric bud morphogenesis GO:0001658 10.06 WT1 WNT4 SOX9
8 adrenal gland development GO:0030325 10.06 NR0B1 NR5A1 WNT4 WT1
9 tissue development GO:0009888 10.05 WT1 NR5A2 NR5A1
10 intracellular receptor signaling pathway GO:0030522 10.04 NR5A2 NR5A1 AR
11 sex differentiation GO:0007548 9.97 WNT4 SRY DMRT1 CBX2 AMH
12 Leydig cell differentiation GO:0033327 9.96 NR5A1 NR0B1 DHH AR AMH
13 regulation of steroid biosynthetic process GO:0050810 9.95 STAR NR5A1 DHH
14 sex determination GO:0007530 9.95 WT1 NR5A1 NR0B1 AMH
15 Sertoli cell development GO:0060009 9.94 SOX9 DMRT1
16 doxorubicin metabolic process GO:0044598 9.93 AKR1C4 AKR1C2
17 progesterone metabolic process GO:0042448 9.93 AKR1C4 AKR1C2
18 gonadal mesoderm development GO:0007506 9.92 AMH ZFPM2
19 daunorubicin metabolic process GO:0044597 9.92 AKR1C2 AKR1C4
20 mesenchymal to epithelial transition GO:0060231 9.91 WNT4 WT1
21 negative regulation of female gonad development GO:2000195 9.91 ZFPM2 WT1 NR5A1
22 negative regulation of steroid biosynthetic process GO:0010894 9.89 WNT4 NR0B1
23 gonad development GO:0008406 9.89 WT1 NR0B1 AMH
24 cellular response to jasmonic acid stimulus GO:0071395 9.86 AKR1C2 AKR1C4
25 renal vesicle induction GO:0072034 9.85 WNT4 SOX9
26 Sertoli cell differentiation GO:0060008 9.85 DMRT1 NR0B1 NR5A1 SOX9 WNT4
27 tertiary branching involved in mammary gland duct morphogenesis GO:0060748 9.84 WNT4 AR
28 male sex determination GO:0030238 9.7 SRY SOX9 NR5A1 NR0B1 DMRT1 DHH
29 positive regulation of male gonad development GO:2000020 9.47 ZFPM2 WT1 SRY SOX9 NR5A1 DMRT1

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 zinc ion binding GO:0008270 10.32 AR DHH MAP3K1 NR5A1 NR5A2 WT1
2 DNA-binding transcription factor activity GO:0003700 10.16 WT1 SRY SOX9 NR5A2 NR5A1 AR
3 transcription corepressor activity GO:0003714 10.11 ZFPM2 WNT4 NR0B1 LCOR
4 chromatin binding GO:0003682 10.03 SOX9 NR5A2 NR5A1 DMRT1 CBX2 AR
5 DNA binding GO:0003677 9.86 AR CBX2 DMRT1 LCOR NR5A1 NR5A2
6 alditol:NADP+ 1-oxidoreductase activity GO:0004032 9.83 AKR1C4 AKR1C2
7 bile acid binding GO:0032052 9.8 AKR1C4 AKR1C2
8 nuclear receptor activity GO:0004879 9.8 AR NR5A2 NR5A1
9 androstan-3-alpha,17-beta-diol dehydrogenase activity GO:0047044 9.73 AKR1C4 AKR1C2
10 oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor GO:0016655 9.71 AKR1C4 AKR1C2
11 androsterone dehydrogenase activity GO:0047023 9.67 AKR1C4 AKR1C2
12 ketosteroid monooxygenase activity GO:0047086 9.46 AKR1C4 AKR1C2
13 sequence-specific DNA binding GO:0043565 9.32 WT1 SOX9 NR5A2 NR5A1 DMRT1 AR

Sources for 46,xy Sex Reversal

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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