SRXX1
MCID: 46X052
MIFTS: 50

46,xx Sex Reversal 1 (SRXX1)

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

Aliases & Classifications for 46,xx Sex Reversal 1

MalaCards integrated aliases for 46,xx Sex Reversal 1:

Name: 46,xx Sex Reversal 1 56 12 73
46,xx Testicular Disorder of Sex Development 56 52 25 58 73 36 29
46,xx Gonadal Dysgenesis 52 58 36 6
46,xx Sex Reversal, Type 1 29 6 39
Srxx1 56 12 73
46,xx Gonadal Dysgenesis, Complete, Sry-Positive 56 29
Ovotesticular Disorders of Sex Development 43 71
46,xx Testicular Dsd 52 58
46xx Sex Reversal 1 56 13
Xx Male Syndrome 52 25
Xx Sex Reversal 52 25
Follicular Stimulating Hormone-Resistant Ovaries 58
46,xx Ovotesticular Disorder of Sex Development 58
46,xx Gonadal Dysgenesis Complete Sry-Positive 73
46, Xx Testicular Disorders of Sex Development 71
Ovotesticular Disorder of Sex Development 73
46,xx True Hermaphroditism Sry-Positive 73
Hypergonadotropic Ovarian Dysgenesis 58
46,xx Complete Gonadal Dysgenesis 58
46,xx Sex Reversal, Sry-Positive 56
46,xx Sex Reversal Sry-Positive 73
46,xx Pure Gonadal Dysgenesis 58
Xx Female Gonadal Dysgenesis 58
46, Xx Gonadal Sex Reversal 52
46,xx Ovarian Dysgenesis 58
De La Chapelle Syndrome 58
46,xx Ovotesticular Dsd 58
Xx Male, Sry-Positive 56
Xx Male Sry-Positive 73
46,xx Sex Reversal 25
Xx, Male Syndrome 58
Ovotesticular Dsd 73
Fsh-Ro 58
Xx-Gd 58

Characteristics:

Orphanet epidemiological data:

58
46,xx gonadal dysgenesis
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable,X-linked recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Adolescent,Adult; Age of death: normal life expectancy;
46,xx ovotesticular disorder of sex development
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;
46,xx testicular disorder of sex development
Prevalence: 1-9/100000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
x-linked dominant

Miscellaneous:
phenotypic variability, with some patients presenting as 46,xx males and others as 46,xx true hermaphrodites


HPO:

31
46,xx sex reversal 1:
Inheritance x-linked dominant inheritance y-linked inheritance


Classifications:

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


External Ids:

Disease Ontology 12 DOID:0111761
OMIM 56 400045
MESH via Orphanet 44 D023961 D050090 D058531
ICD10 via Orphanet 33 Q56.0 Q99.1
UMLS via Orphanet 72 C0266361 C0432475 C0685837 more
UMLS 71 C2748895 C2936419

Summaries for 46,xx Sex Reversal 1

NIH Rare Diseases : 52 46,XX testicular disorder of sex development is a condition in which a person with two X chromosomes (which is normally found in females) has a male appearance. More specifically, people with this condition have male external genitalia, ranging from normal to ambiguous . Other common signs and symptoms include small testes , gynecomastia , infertility due to azoospermia (lack of sperm), and health problems related to low testosterone. Less often, affected people may experience abnormalities such as undescended testes and hypospadias . Gender role and gender identity are normally reported as male. This condition may occur if the SRY gene (which is usually found on the Y chromosome ) is misplaced onto the X chromosome . This generally occurs to do an abnormal exchange of genetic material between chromosomes (a translocation ). Less commonly, the condition may be due to copy number variants or rearrangements in or around the SOX9 or SOX3 gene. In some affected people, the underlying cause is unknown. In most cases, the condition occurs sporadically in people with no family history of the condition. Treatment is based on the signs and symptoms present in each person and generally includes testosterone replacement therapy .

MalaCards based summary : 46,xx Sex Reversal 1, also known as 46,xx testicular disorder of sex development, is related to 46,xx sex reversal and amenorrhea. An important gene associated with 46,xx Sex Reversal 1 is SRY (Sex Determining Region Y), and among its related pathways/superpathways are Ovarian steroidogenesis and Regulation of Androgen receptor activity. Affiliated tissues include testes, ovary and breast, and related phenotypes are premature ovarian insufficiency and gonadal dysgenesis

Disease Ontology : 12 A 46,XX sex reversal that has material basis in translocation of SRY onto the X chromosome.

Genetics Home Reference : 25 46,XX testicular disorder of sex development is a condition in which individuals with two X chromosomes in each cell, the pattern normally found in females, have a male appearance. People with this disorder have male external genitalia. They generally have small testes and may also have abnormalities such as undescended testes (cryptorchidism) or the urethra opening on the underside of the penis (hypospadias). A small number of affected people have external genitalia that do not look clearly male or clearly female (ambiguous genitalia). Affected children are typically raised as males and have a male gender identity. At puberty, most affected individuals require treatment with the male sex hormone testosterone to induce development of male secondary sex characteristics such as facial hair and deepening of the voice (masculinization). Hormone treatment can also help prevent breast enlargement (gynecomastia). Adults with this disorder are usually shorter than average for males and are unable to have children (infertile).

OMIM : 56 A disorder of sex development (DSD) is a 'congenital condition in which development of chromosomal, gonadal, or anatomic sex is atypical.' 46,XX DSD is a disorder of gonadal (ovarian) development, which may be complete or partial (Lee et al., 2006). Sex-reversed 46,XX individuals can present as phenotypically normal males, as men with genital ambiguities, or as true hermaphrodites (Ahmad et al., 2012). 46,XX male sex reversal is a condition in which a phenotypically normal male has a female genotype. A 'true hermaphrodite' must have both mature ovarian and mature testicular tissue with histologic evidence of follicles and tubules, respectively (van Niekerk and Retief, 1981). It is a genetically heterogeneous condition. (400045)

KEGG : 36 46,XX disorder of sex development (46,XX DSD) is a condition in which the individual shows ambiguous genitalia with a 46,XX karyotype. Formerly, 46,XX DSD was also known as XX sex reversal (SRXX) or female pseudohermaphroditism. Testicular DSD patients, who have testicular tissue in the absence of an ovarian tissue, are phenotypically normal males.

UniProtKB/Swiss-Prot : 73 46,XX sex reversal 1: A condition in which male gonads develop in a genetic female (female to male sex reversal).

Wikipedia : 74 XX male syndrome, also known as De la Chapelle syndrome, is a rare congenital intersex condition where... more...

Related Diseases for 46,xx Sex Reversal 1

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,xx Sex Reversal 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 102)
# Related Disease Score Top Affiliating Genes
1 46,xx sex reversal 31.7 SRY SOX9 SOX3 NR5A1 NR0B1
2 amenorrhea 30.6 NR5A1 FSHR BMP15
3 premature ovarian failure 1 30.6 SOX9 PSMC3IP NR5A1 NR0B1 FSHR BMP15
4 46 xx gonadal dysgenesis 30.3 PSMC3IP NR5A1 MRPS22 FSHR BMP15
5 mixed gonadal dysgenesis 30.2 SRY SOX9 NR5A1
6 hypospadias 30.1 SRY SOX9 NR5A1
7 gonadoblastoma 30.1 SRY SOX9 NR5A1
8 blepharophimosis, ptosis, and epicanthus inversus 30.1 NR5A1 MRPS22 BMP15
9 46,xy sex reversal 1 30.0 SRY SOX9
10 male infertility 29.9 SRY NR5A1 FSHR
11 campomelic dysplasia 29.9 SRY SOX9 NR5A1
12 infertility 29.8 NR5A1 FSHR BMP15
13 disorders of sexual development 29.8 SOX9 NR5A1 NR0B1 FSHR BMP15
14 46,xy sex reversal 2 29.6 SOX9 NR5A1 NR0B1
15 hermaphroditism 29.6 SRY SOX9 NR0B1
16 cryptorchidism, unilateral or bilateral 29.0 SOX9 SOX3 NR5A1 NR0B1 FSHR
17 gonadal dysgenesis 26.0 SRY SPIDR SOX9 SOX3 PSMC3IP NUP107
18 46,xx sex reversal 4 13.0
19 46,xx sex reversal 3 12.9
20 nonsyndromic 46,xx testicular disorders of sex development 12.8
21 46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs 12.8
22 46,xy ovotesticular disorder of sex development 12.8
23 46,xx sex reversal 5 12.6
24 46,xx gonadal dysgenesis epibulbar dermoid 12.5
25 ovarian dysgenesis 2 11.5
26 ovarian dysgenesis 4 11.5
27 huriez syndrome 11.5
28 ovarian dysgenesis 1 10.6
29 azoospermia 10.4
30 dysgerminoma 10.4
31 hypogonadism 10.4
32 branchiootic syndrome 1 10.3
33 anorchia 10.3 SRY NR5A1
34 46,xx sex reversal 2 10.3
35 infant gynecomastia 10.3
36 gynecomastia 10.3
37 premature ovarian failure 7 10.3
38 inguinal hernia 10.3
39 growth hormone deficiency 10.2
40 premature menopause 10.2 FSHR BMP15
41 mayer-rokitansky-kuster-hauser syndrome 10.2
42 ovarian dysgenesis, hypergonadotropic, with short stature and recurrent metabolic acidosis 10.2
43 46,xy sex reversal 3 10.2
44 metabolic acidosis 10.2
45 mumps 10.2
46 spermatogenic failure 3 10.1
47 palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal 10.1
48 autosomal recessive disease 10.1
49 keratosis 10.1
50 impotence 10.1

Graphical network of the top 20 diseases related to 46,xx Sex Reversal 1:



Diseases related to 46,xx Sex Reversal 1

Symptoms & Phenotypes for 46,xx Sex Reversal 1

Human phenotypes related to 46,xx Sex Reversal 1:

58 31 (show all 49)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 premature ovarian insufficiency 58 31 obligate (100%) Obligate (100%) HP:0008209
2 gonadal dysgenesis 58 31 obligate (100%) Obligate (100%) HP:0000133
3 delayed puberty 58 31 hallmark (90%) Very frequent (99-80%) HP:0000823
4 cryptorchidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000028
5 increased circulating gonadotropin level 58 31 hallmark (90%) Very frequent (99-80%) HP:0000837
6 primary amenorrhea 58 31 hallmark (90%) Very frequent (99-80%) HP:0000786
7 polycystic ovaries 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000147
8 decreased fertility 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000144
9 bifid scrotum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000048
10 abnormality of the uterus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000130
11 hypospadias 58 31 hallmark (90%) Very frequent (99-80%) HP:0000047
12 hypoplasia of penis 58 31 hallmark (90%) Very frequent (99-80%) HP:0008736
13 decreased testicular size 58 31 hallmark (90%) Very frequent (99-80%) HP:0008734
14 ambiguous genitalia 58 31 hallmark (90%) Excluded (0%),Very frequent (99-80%),Very frequent (99-80%) HP:0000062
15 scrotal hypoplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000046
16 true hermaphroditism 58 31 hallmark (90%) Very frequent (99-80%) HP:0010459
17 urogenital sinus anomaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0100779
18 male hypogonadism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000026
19 decreased serum estradiol 58 31 hallmark (90%) Very frequent (99-80%) HP:0008214
20 abnormality of male internal genitalia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000022
21 abnormal scrotal rugation 58 31 hallmark (90%) Very frequent (99-80%) HP:0012856
22 delayed skeletal maturation 58 31 frequent (33%) Frequent (79-30%) HP:0002750
23 osteopenia 58 31 frequent (33%) Frequent (79-30%) HP:0000938
24 sparse pubic hair 58 31 frequent (33%) Frequent (79-30%) HP:0002225
25 aplasia/hypoplasia of the uterus 58 31 frequent (33%) Frequent (79-30%) HP:0008684
26 osteoporosis of vertebrae 58 31 frequent (33%) Frequent (79-30%) HP:0005625
27 aplasia/hypoplasia of the breasts 58 31 frequent (33%) Frequent (79-30%) HP:0010311
28 streak ovary 58 31 frequent (33%) Frequent (79-30%) HP:0010464
29 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
30 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
31 abnormality of metabolism/homeostasis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001939
32 secondary amenorrhea 58 31 occasional (7.5%) Occasional (29-5%) HP:0000869
33 microcephaly 58 31 very rare (1%) Very rare (<4-1%) HP:0000252
34 ataxia 58 31 very rare (1%) Very rare (<4-1%) HP:0001251
35 pulmonary fibrosis 58 31 very rare (1%) Very rare (<4-1%) HP:0002206
36 arachnodactyly 58 31 very rare (1%) Very rare (<4-1%) HP:0001166
37 reduced bone mineral density 58 Frequent (79-30%)
38 precocious menopause 58 Obligate (100%)
39 abnormality of female internal genitalia 58 Very frequent (99-80%)
40 azoospermia 31 HP:0000027
41 gynecomastia 31 HP:0000771
42 tall stature 31 HP:0000098
43 bicornuate uterus 31 HP:0000813
44 abnormality of secondary sexual hair 58 Very frequent (99-80%)
45 clitoral hypertrophy 31 HP:0008665
46 sex reversal 31 HP:0012245
47 elevated circulating follicle stimulating hormone level 31 HP:0008232
48 elevated circulating luteinizing hormone level 31 HP:0011969
49 ovotestis 31 HP:0012861

Symptoms via clinical synopsis from OMIM:

56
Genitourinary Internal Genitalia Male:
azoospermia
low libido
small, soft testes
ovotestis, unilateral
fibrous ovarian stroma
more
Chest Breasts:
gynecomastia

Genitourinary Internal Genitalia Female:
bicornuate uterus
ovary and fallopian tube, unilateral
endometrioma

Endocrine Features:
elevated luteinizing hormone (lh)
elevated follicle-stimulating hormone (fsh)
low testosterone

Genitourinary External Genitalia Male:
hypospadias
ambiguous genitalia
normal penis

Growth Height:
tall stature

Genitourinary External Genitalia Female:
enlarged clitoris
urogenital sinus

Clinical features from OMIM:

400045

MGI Mouse Phenotypes related to 46,xx Sex Reversal 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.5 BMP15 FSHR NR0B1 NR5A1 PSMC3IP SOX3
2 reproductive system MP:0005389 9.28 BMP15 FSHR NR0B1 NR5A1 NUP107 PSMC3IP

Drugs & Therapeutics for 46,xx Sex Reversal 1

Search Clinical Trials , NIH Clinical Center for 46,xx Sex Reversal 1

Cochrane evidence based reviews: ovotesticular disorders of sex development

Genetic Tests for 46,xx Sex Reversal 1

Genetic tests related to 46,xx Sex Reversal 1:

# Genetic test Affiliating Genes
1 46,xx Testicular Disorder of Sex Development 29
2 46,xx Sex Reversal, Type 1 29 SRY
3 46,xx Gonadal Dysgenesis, Complete, Sry-Positive 29

Anatomical Context for 46,xx Sex Reversal 1

MalaCards organs/tissues related to 46,xx Sex Reversal 1:

40
Testes, Ovary, Breast, Uterus, Bone, Testis

Publications for 46,xx Sex Reversal 1

Articles related to 46,xx Sex Reversal 1:

(show all 50)
# Title Authors PMID Year
1
Consensus statement on management of intersex disorders. International Consensus Conference on Intersex. 6 56
16882788 2006
2
Is 46XX karyotype always a female? 56
22814614 2012
3
Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development. 6
22051515 2011
4
XX males SRY negative: a confirmed cause of infertility. 6
21653197 2011
5
XX ovarian dysgenesis is caused by a PSMC3IP/HOP2 mutation that abolishes coactivation of estrogen-driven transcription. 6
21963259 2011
6
A SOX9 duplication and familial 46,XX developmental testicular disorder. 6
21208124 2011
7
An unbalanced translocation unmasks a recessive mutation in the follicle-stimulating hormone receptor (FSHR) gene and causes FSH resistance. 6
20087398 2010
8
Abstracts of the ESPU (European Society for Paediatric Urology) XXth Annual Congress. May 6-9, 2009. Amsterdam, The Netherlands. 6
19272837 2009
9
Abnormal sex chromosome constitution and longitudinal growth: serum levels of insulin-like growth factor (IGF)-I, IGF binding protein-3, luteinizing hormone, and testosterone in 109 males with 47,XXY, 47,XYY, or sex-determining region of the Y chromosome (SRY)-positive 46,XX karyotypes. 56
17940117 2008
10
Clinical, endocrinological, and epigenetic features of the 46,XX male syndrome, compared with 47,XXY Klinefelter patients. 56
17579198 2007
11
45,X/47,XXX/47,XX, del(Y)(p?)/46,XX mosaicism causing true hermaphroditism. 56
15378545 2004
12
Hypergonadotropic ovarian failure associated with an inherited mutation of human bone morphogenetic protein-15 (BMP15) gene. 6
15136966 2004
13
Nonsyndromic 46,XX Testicular Disorders of Sex Development 6
20301589 2003
14
Delayed puberty and primary amenorrhea associated with a novel mutation of the human follicle-stimulating hormone receptor: clinical, histological, and molecular studies. 6
12915623 2003
15
A Novel mutation in the FSH receptor inhibiting signal transduction and causing primary ovarian failure. 6
11889179 2002
16
Database for the mutations of the Finnish disease heritage. 6
11754099 2002
17
SRY gene transferred to the long arm of the X chromosome in a Y-positive XX true hermaphrodite. 56
10602113 2000
18
The frequency of an inactivating point mutation (566C-->T) of the human follicle-stimulating hormone receptor gene in four populations using allele-specific hybridization and time-resolved fluorometry. 6
9851774 1998
19
A novel phenotype related to partial loss of function mutations of the follicle stimulating hormone receptor. 6
9769327 1998
20
A rare case of 46,XX true hermaphroditism with hidden mosaicism with sex-determining region Y chromosome-bearing cells in the gonads. 56
9652903 1998
21
Men homozygous for an inactivating mutation of the follicle-stimulating hormone (FSH) receptor gene present variable suppression of spermatogenesis and fertility. 6
9020851 1997
22
Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure. 6
7553856 1995
23
The genetics of XX gonadal dysgenesis. 6
8178824 1994
24
True hermaphroditism: geographical distribution, clinical findings, chromosomes and gonadal histology. 56
8313919 1994
25
Separation of the genetic loci for the H-Y antigen and for testis determination on human Y chromosome. 56
3494951 1987
26
Chromosome Y-specific DNA is transferred to the short arm of X chromosome in human XX males. 56
3738510 1986
27
The gonads of human true hermaphrodites. 56
6895206 1981
28
Heteromorphic X chromosomes in 46,XX males? 56
511171 1979
29
Heteromorphic X chromosomes in 46,XX males: evidence for the involvement of X-Y interchange. 56
572812 1979
30
Familial XX true hermaphroditism and the H-Y antigen. 56
110671 1979
31
Recessive sex-determining genes in human XX male syndrome. 56
569552 1978
32
Familial true hermaphorodism in three siblings: plasma hormonal profile and in vitro steroid biosynthesis in gonadal structures. 56
131131 1976
33
Familial true hermaphrodism in three siblings: clinical, cytogenetic, histological and hormonal studies. 56
1236834 1975
34
X-Y chromosomal interchange in the aetiology of true hermaphroditism and of XX Klinefelter's syndrome. 56
4161595 1966
35
Male patient 46,XX SRY-negative and unambiguous genitalia: A case report 61
31860174 2019
36
46,XX Testicular Disorder of Sex Development (DSD): A Case Report and Systematic Review. 61
31336995 2019
37
A Follow-Up from Infancy to Puberty in a Japanese Male with SRY-Negative 46,XX Testicular Disorder of Sex Development Carrying a p.Arg92Trp Mutation in NR5A1. 61
30739115 2019
38
A 46,XX testicular disorder of sex development caused by a Wilms' tumour Factor-1 (WT1) pathogenic variant. 61
30294972 2019
39
Novel RSPO1 mutation causing 46,XX testicular disorder of sex development with palmoplantar keratoderma: A review of literature and expansion of clinical phenotype. 61
29575617 2018
40
Ten cases with 46,XX testicular disorder of sex development: single center experience. 61
28379671 2017
41
A duplication upstream of SOX9 was not positively correlated with the SRY‑negative 46,XX testicular disorder of sex development: A case report and literature review. 61
26260363 2015
42
46,XX testicular disorder of sexual development with SRY-negative caused by some unidentified mechanisms: a case report and review of the literature. 61
25529318 2014
43
Clinical, molecular and cytogenetic analysis of 46, XX testicular disorder of sex development with SRY-positive. 61
25169080 2014
44
A Korean boy with 46,XX testicular disorder of sex development caused by SOX9 duplication. 61
25077096 2014
45
Gene expression profile during testicular development in patients with SRY-negative 46,XX testicular disorder of sex development. 61
24149105 2013
46
Two males with SRY-positive 46,XX testicular disorder of sex development. 61
23110663 2013
47
46,XX T testicular disorder of sex development. Case report. 61
21705820 2011
48
[46, XX testicular disorder of sex development: report of 2 cases and review of the literature]. 61
20626165 2010
49
De novo 12;17 translocation upstream of SOX9 resulting in 46,XX testicular disorder of sex development. 61
20082466 2010
50
Infertility in a new 46, XX male with positive SRY confirmed by fluorescence in situ hybridization: a case report. 61
19205451 2008

Variations for 46,xx Sex Reversal 1

ClinVar genetic disease variations for 46,xx Sex Reversal 1:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SRY NM_003140.3(SRY):c.331C>T (p.Gln111Ter)SNV Pathogenic 436871 rs1556370543 Y:2655314-2655314 Y:2787273-2787273
2 MRPS22 NM_020191.3(MRPS22):c.605G>A (p.Arg202His)SNV Pathogenic 441255 rs753345594 3:139069121-139069121 3:139350279-139350279

Expression for 46,xx Sex Reversal 1

Search GEO for disease gene expression data for 46,xx Sex Reversal 1.

Pathways for 46,xx Sex Reversal 1

Pathways related to 46,xx Sex Reversal 1 according to KEGG:

36
# Name Kegg Source Accession
1 Ovarian steroidogenesis hsa04913

Pathways related to 46,xx Sex Reversal 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.85 SRY NR0B1
2 10.46 NR5A1 FSHR
3 10.43 SRY SOX9 SOX3

GO Terms for 46,xx Sex Reversal 1

Cellular components related to 46,xx Sex Reversal 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.96 SRY SPIDR SOX9 SOX3 PSMC3IP POLR3H
2 nucleoplasm GO:0005654 9.61 SRY SPIDR SOX9 SOX3 PSMC3IP POLR3H
3 nuclear chromatin GO:0000790 9.55 SRY SOX9 SOX3 NR5A1 NR0B1
4 transcription factor complex GO:0005667 9.5 SRY SOX9 SOX3
5 nuclear transcription factor complex GO:0044798 8.8 SRY SOX9 SOX3

Biological processes related to 46,xx Sex Reversal 1 according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 9.91 SRY SOX9 SOX3 NUP107 NR5A1 NR0B1
2 positive regulation of transcription, DNA-templated GO:0045893 9.88 SRY SOX9 NR5A1 BMP15
3 cell differentiation GO:0030154 9.88 SRY SOX9 SOX3 NR5A1 NR0B1 BNC1
4 spermatogenesis GO:0007283 9.84 SOX9 NR0B1 FSHR BNC1
5 transcription initiation from RNA polymerase II promoter GO:0006367 9.72 SOX9 NR5A1 NR0B1
6 ovarian follicle development GO:0001541 9.58 FSHR BMP15
7 intracellular receptor signaling pathway GO:0030522 9.57 NR5A1 NR0B1
8 pituitary gland development GO:0021983 9.56 SOX3 NR0B1
9 male gonad development GO:0008584 9.56 SOX9 NR5A1 NR0B1 FSHR
10 adrenal gland development GO:0030325 9.52 NR5A1 NR0B1
11 female gamete generation GO:0007292 9.51 FSHR BMP15
12 female gonad development GO:0008585 9.5 NUP107 NR5A1 FSHR
13 hypothalamus development GO:0021854 9.49 SOX3 NR0B1
14 gonad development GO:0008406 9.48 NR0B1 FSHR
15 Sertoli cell development GO:0060009 9.46 SOX9 FSHR
16 Sertoli cell differentiation GO:0060008 9.43 SOX9 NR0B1
17 positive regulation of male gonad development GO:2000020 9.33 SRY SOX9 NR5A1
18 sex determination GO:0007530 9.13 SOX3 NR5A1 NR0B1
19 male sex determination GO:0030238 8.92 SRY SOX9 NR5A1 NR0B1

Molecular functions related to 46,xx Sex Reversal 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.35 SRY SOX9 SOX3 NR5A1 NR0B1
2 DNA binding GO:0003677 9.23 SRY SOX9 SOX3 PSMC3IP POLR3H NR5A1
3 nuclear receptor activity GO:0004879 9.16 NR5A1 NR0B1

Sources for 46,xx Sex Reversal 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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