SRXX1
MCID: 46X052
MIFTS: 54

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 57 12 72
46,xx Testicular Disorder of Sex Development 57 20 43 58 72 36 29
46,xx Sex Reversal, Type 1 29 6 39
46,xx Gonadal Dysgenesis 20 58 6
Srxx1 57 12 72
46,xx Gonadal Dysgenesis, Complete, Sry-Positive 57 29
Ovotesticular Disorders of Sex Development 44 70
46,xx Testicular Dsd 20 58
46xx Sex Reversal 1 57 13
Xx Male Syndrome 20 43
Xx Sex Reversal 20 43
Follicular Stimulating Hormone-Resistant Ovaries 58
46,xx Ovotesticular Disorder of Sex Development 58
46,xx Gonadal Dysgenesis Complete Sry-Positive 72
46, Xx Testicular Disorders of Sex Development 70
Ovotesticular Disorder of Sex Development 72
46,xx True Hermaphroditism Sry-Positive 72
Hypergonadotropic Ovarian Dysgenesis 58
46,xx Complete Gonadal Dysgenesis 58
46,xx Sex Reversal, Sry-Positive 57
46,xx Sex Reversal Sry-Positive 72
46,xx Pure Gonadal Dysgenesis 58
Xx Female Gonadal Dysgenesis 58
46, Xx Gonadal Sex Reversal 20
46,xx Ovarian Dysgenesis 58
De La Chapelle Syndrome 58
46,xx Ovotesticular Dsd 58
Xx Male, Sry-Positive 57
Xx Male Sry-Positive 72
46,xx Sex Reversal 43
Xx, Male Syndrome 58
Ovotesticular Dsd 72
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®:

57 (Updated 20-May-2021)
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


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® 57 400045
KEGG 36 H00598
MESH via Orphanet 45 D023961 D050090 D058531
ICD10 via Orphanet 33 Q56.0 Q99.1
UMLS via Orphanet 71 C0266361 C0432475 C0685837 more
UMLS 70 C2748895 C2936419

Summaries for 46,xx Sex Reversal 1

GARD : 20 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 gonadal dysgenesis and ovarian dysgenesis 3. An important gene associated with 46,xx Sex Reversal 1 is SRY (Sex Determining Region Y), and among its related pathways/superpathways are Ovarian Infertility Genes and Deactivation of the beta-catenin transactivating complex. Affiliated tissues include testes, uterus and ovary, 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.

MedlinePlus Genetics : 43 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® : 57 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) (Updated 20-May-2021)

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 : 72 46,XX sex reversal 1: A condition in which male gonads develop in a genetic female (female to male sex reversal).

Wikipedia : 73 XX male syndrome, also known as de la Chapelle syndrome, is a rare congenital intersex condition in... 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 116)
# Related Disease Score Top Affiliating Genes
1 46 xx gonadal dysgenesis 32.4 PSMC3IP NR5A1 MRPS22 FSHR BMP15
2 ovarian dysgenesis 3 32.4 PSMC3IP MLX
3 46,xx sex reversal 31.6 SRY SOX9 SOX3 NR5A1 NR0B1
4 amenorrhea 30.8 NR5A1 FSHR BMP15
5 disorder of sexual development 30.7 SOX9 NR5A1 NR0B1 FSHR BMP15
6 mixed gonadal dysgenesis 30.7 SRY SOX9 NR5A1
7 campomelic dysplasia 30.4 SRY SOX9 NR5A1
8 hypospadias 30.4 SRY SOX9 NR5A1
9 hermaphroditism 30.2 SRY SOX9 NR0B1
10 turner syndrome 30.1 SRY NR0B1 BMP15
11 blepharophimosis, ptosis, and epicanthus inversus 30.1 NR5A1 MRPS22 BMP15
12 46,xy sex reversal 2 30.1 SOX9 NR5A1 NR0B1
13 gonadoblastoma 30.0 SRY SOX9 NR5A1 NR0B1
14 cryptorchidism, unilateral or bilateral 29.5 SOX9 SOX3 NR5A1 NR0B1 FSHR
15 46,xy sex reversal 29.3 SRY SOX9 SOX3 NR5A1 NR0B1
16 premature menopause 28.9 SOX9 PSMC3IP NR5A1 NR0B1 MRPS22 FSHR
17 gonadal dysgenesis 27.6 SRY SPIDR SOX9 SOX3 PSMC3IP NUP107
18 46,xx sex reversal 4 12.1
19 46,xx sex reversal 3 12.0
20 46,xx sex reversal 5 11.9
21 46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs 11.8
22 46,xy ovotesticular disorder of sex development 11.5
23 ovarian dysgenesis 1 11.5
24 immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis 11.4
25 46,xx gonadal dysgenesis epibulbar dermoid 11.4
26 ovarian dysgenesis 2 11.4
27 ovarian dysgenesis 4 11.4
28 ovarian dysgenesis 5 11.4
29 ovarian dysgenesis 6 11.4
30 ovarian dysgenesis 7 11.4
31 ovarian dysgenesis 8 11.4
32 huriez syndrome 11.2
33 premature ovarian failure 1 11.2
34 nonsyndromic 46,xx testicular disorders of sex development 10.7
35 azoospermia 10.6
36 hypogonadism 10.5
37 infertility 10.5
38 dysgerminoma 10.5
39 premature ovarian failure 7 10.3
40 seminoma 10.3
41 mayer-rokitansky-kuster-hauser syndrome 10.3
42 branchiootic syndrome 1 10.3
43 inguinal hernia 10.3
44 46,xx sex reversal 2 10.3
45 palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal 10.3
46 autosomal recessive disease 10.3
47 infant gynecomastia 10.3
48 gynecomastia 10.3
49 keratosis 10.3
50 impotence 10.3

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 osteopenia 58 31 frequent (33%) Frequent (79-30%) HP:0000938
23 delayed skeletal maturation 58 31 frequent (33%) Frequent (79-30%) HP:0002750
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 secondary amenorrhea 58 31 occasional (7.5%) Occasional (29-5%) HP:0000869
32 abnormality of metabolism/homeostasis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001939
33 ataxia 58 31 very rare (1%) Very rare (<4-1%) HP:0001251
34 microcephaly 58 31 very rare (1%) Very rare (<4-1%) HP:0000252
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®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.56 BMP15 BNC1 FSHR NR0B1 NR5A1 PSMC3IP
2 reproductive system MP:0005389 9.36 BMP15 BNC1 FSHR MLX NR0B1 NR5A1

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, Uterus, Ovary, Bone, Skin, Testis, Cortex

Publications for 46,xx Sex Reversal 1

Articles related to 46,xx Sex Reversal 1:

(show top 50) (show all 55)
# Title Authors PMID Year
1
Fundamental role of BMP15 in human ovarian folliculogenesis revealed by null and missense mutations associated with primary ovarian insufficiency. 6
31957178 2020
2
Novel FSHR variants causing female resistant ovary syndrome. 6
31830376 2020
3
Novel inactivating mutations in the FSH receptor cause premature ovarian insufficiency with resistant ovary syndrome. 6
30691934 2019
4
Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9. 6
30552336 2018
5
Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency. 6
29566152 2018
6
A novel homozygous mutation in the FSHR gene is causative for primary ovarian insufficiency. 6
29157895 2017
7
Is 46XX karyotype always a female? 57
22814614 2012
8
Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development. 6
22051515 2011
9
XX males SRY negative: a confirmed cause of infertility. 6
21653197 2011
10
XX ovarian dysgenesis is caused by a PSMC3IP/HOP2 mutation that abolishes coactivation of estrogen-driven transcription. 6
21963259 2011
11
A SOX9 duplication and familial 46,XX developmental testicular disorder. 6
21208124 2011
12
An unbalanced translocation unmasks a recessive mutation in the follicle-stimulating hormone receptor (FSHR) gene and causes FSH resistance. 6
20087398 2010
13
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. 57
17940117 2008
14
Clinical, endocrinological, and epigenetic features of the 46,XX male syndrome, compared with 47,XXY Klinefelter patients. 57
17579198 2007
15
Consensus statement on management of intersex disorders. International Consensus Conference on Intersex. 57
16882788 2006
16
45,X/47,XXX/47,XX, del(Y)(p?)/46,XX mosaicism causing true hermaphroditism. 57
15378545 2004
17
Hypergonadotropic ovarian failure associated with an inherited mutation of human bone morphogenetic protein-15 (BMP15) gene. 6
15136966 2004
18
A Novel mutation in the FSH receptor inhibiting signal transduction and causing primary ovarian failure. 6
11889179 2002
19
Database for the mutations of the Finnish disease heritage. 6
11754099 2002
20
SRY gene transferred to the long arm of the X chromosome in a Y-positive XX true hermaphrodite. 57
10602113 2000
21
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
22
A novel phenotype related to partial loss of function mutations of the follicle stimulating hormone receptor. 6
9769327 1998
23
A rare case of 46,XX true hermaphroditism with hidden mosaicism with sex-determining region Y chromosome-bearing cells in the gonads. 57
9652903 1998
24
Men homozygous for an inactivating mutation of the follicle-stimulating hormone (FSH) receptor gene present variable suppression of spermatogenesis and fertility. 6
9020851 1997
25
Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure. 6
7553856 1995
26
The genetics of XX gonadal dysgenesis. 6
8178824 1994
27
True hermaphroditism: geographical distribution, clinical findings, chromosomes and gonadal histology. 57
8313919 1994
28
Separation of the genetic loci for the H-Y antigen and for testis determination on human Y chromosome. 57
3494951 1987
29
Chromosome Y-specific DNA is transferred to the short arm of X chromosome in human XX males. 57
3738510 1986
30
The gonads of human true hermaphrodites. 57
6895206 1981
31
Heteromorphic X chromosomes in 46,XX males? 57
511171 1979
32
Heteromorphic X chromosomes in 46,XX males: evidence for the involvement of X-Y interchange. 57
572812 1979
33
Familial XX true hermaphroditism and the H-Y antigen. 57
110671 1979
34
Recessive sex-determining genes in human XX male syndrome. 57
569552 1978
35
Familial true hermaphorodism in three siblings: plasma hormonal profile and in vitro steroid biosynthesis in gonadal structures. 57
131131 1976
36
Familial true hermaphrodism in three siblings: clinical, cytogenetic, histological and hormonal studies. 57
1236834 1975
37
X-Y chromosomal interchange in the aetiology of true hermaphroditism and of XX Klinefelter's syndrome. 57
4161595 1966
38
Exome sequencing for the patients with SRY-negative 46,XX testicular disorder of sex development. 61
33775494 2021
39
Multiscale analysis of SRY-positive 46,XX testicular disorder of sex development: Presentation of nine cases. 61
32882067 2020
40
Male patient 46,XX SRY-negative and unambiguous genitalia: A case report 61
31860174 2019
41
46,XX Testicular Disorder of Sex Development (DSD): A Case Report and Systematic Review. 61
31336995 2019
42
A 46,XX testicular disorder of sex development caused by a Wilms' tumour Factor-1 (WT1) pathogenic variant. 61
30294972 2019
43
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
44
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
45
Ten cases with 46,XX testicular disorder of sex development: single center experience. 61
28379671 2017
46
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
47
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
48
Clinical, molecular and cytogenetic analysis of 46, XX testicular disorder of sex development with SRY-positive. 61
25169080 2014
49
A Korean boy with 46,XX testicular disorder of sex development caused by SOX9 duplication. 61
25077096 2014
50
Gene expression profile during testicular development in patients with SRY-negative 46,XX testicular disorder of sex development. 61
24149105 2013

Variations for 46,xx Sex Reversal 1

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

6 (show top 50) (show all 100)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 BMP15 NM_005448.2(BMP15):c.704A>G (p.Tyr235Cys) SNV Pathogenic 11470 rs104894765 GRCh37: X:50659132-50659132
GRCh38: X:50916132-50916132
2 SRY NM_003140.3(SRY):c.331C>T (p.Gln111Ter) SNV Pathogenic 436871 rs1556370543 GRCh37: Y:2655314-2655314
GRCh38: Y:2787273-2787273
3 MRPS22 NM_020191.3(MRPS22):c.605G>A (p.Arg202His) SNV Pathogenic 441255 rs753345594 GRCh37: 3:139069121-139069121
GRCh38: 3:139350279-139350279
4 MLX , PSMC3IP NM_016556.4(PSMC3IP):c.614del (p.Glu205fs) Deletion Pathogenic 812136 rs1597722169 GRCh37: 17:40725026-40725026
GRCh38: 17:42573008-42573008
5 BMP15 NM_005448.2(BMP15):c.-49_*34del (p.Met1fs) Deletion Pathogenic 973167 GRCh37: X:50653735-50659641
GRCh38: X:50910735-50916641
6 FSHR NM_000145.4(FSHR):c.2086T>G (p.Ter696Glu) SNV Pathogenic 997497 GRCh37: 2:49189874-49189874
GRCh38: 2:48962735-48962735
7 FSHR NM_000145.4(FSHR):c.191del (p.Gly64fs) Deletion Pathogenic 1032213 GRCh37: 2:49295391-49295391
GRCh38: 2:49068252-49068252
8 BMP15 NM_005448.2(BMP15):c.343C>T (p.Gln115Ter) SNV Pathogenic 1034178 GRCh37: X:50658771-50658771
GRCh38: X:50915771-50915771
9 BMP15 NM_005448.2(BMP15):c.915G>A (p.Trp305Ter) SNV Pathogenic 1034179 GRCh37: X:50659343-50659343
GRCh38: X:50916343-50916343
10 SOX9 SOX9, 178-KB DUP, UPSTREAM REGULATORY REGION Duplication Pathogenic 30708 GRCh37:
GRCh38:
11 SOX9 SOX9, 96-KB TRIPLICATION, UPSTREAM REGULATORY REGION Variation Pathogenic 192386 GRCh37:
GRCh38:
12 SOX9 NC_000017.10:g.69521863_69670036dup Duplication Pathogenic 192387 GRCh37:
GRCh38:
13 SOX9 GRCh37/hg19 17q24.3(chr17:69458883-69482850)x3 copy number gain Pathogenic 599355 GRCh37: 17:69393372-69483073
GRCh38:
14 SOX9 GRCh37/hg19 17q24.3(chr17:69475275-69499520)x3 copy number gain Pathogenic 599356 GRCh37: 17:69458943-69499834
GRCh38:
15 MLX , PSMC3IP NM_198204.2(MLX):c.*1418_*1420CCT[1] Microsatellite Pathogenic 30741 GRCh37: 17:40725038-40725040
GRCh38: 17:42573020-42573022
16 FSHR NM_000145.3(FSHR):c.1555C>A (p.Pro519Thr) SNV Pathogenic 16251 rs121909662 GRCh37: 2:49190405-49190405
GRCh38: 2:48963266-48963266
17 FSHR NM_000145.3(FSHR):c.1255G>A (p.Ala419Thr) SNV Pathogenic 16248 rs121909661 GRCh37: 2:49190705-49190705
GRCh38: 2:48963566-48963566
18 FSHR NM_000145.3(FSHR):c.1717C>T (p.Arg573Cys) SNV Pathogenic 16245 rs121909660 GRCh37: 2:49190243-49190243
GRCh38: 2:48963104-48963104
19 FSHR NM_000145.3(FSHR):c.566C>T (p.Ala189Val) SNV Pathogenic 16243 rs121909658 GRCh37: 2:49210264-49210264
GRCh38: 2:48983125-48983125
20 PSMC3IP NM_016556.4(PSMC3IP):c.34+1G>A SNV Pathogenic 1033827 GRCh37: 17:40729670-40729670
GRCh38: 17:42577652-42577652
21 FSHR NM_000145.3(FSHR):c.1760C>A (p.Pro587His) SNV Pathogenic/Likely pathogenic 29704 rs386833512 GRCh37: 2:49190200-49190200
GRCh38: 2:48963061-48963061
22 FSHR NM_000145.3(FSHR):c.671A>T (p.Asp224Val) SNV Likely pathogenic 56034 rs386833515 GRCh37: 2:49196020-49196020
GRCh38: 2:48968881-48968881
23 FSHR NM_000145.3(FSHR):c.662T>G (p.Val221Gly) SNV Likely pathogenic 56033 rs386833514 GRCh37: 2:49210057-49210057
GRCh38: 2:48982918-48982918
24 FSHR NM_000145.3(FSHR):c.1801C>G (p.Leu601Val) SNV Likely pathogenic 56032 rs386833513 GRCh37: 2:49190159-49190159
GRCh38: 2:48963020-48963020
25 FSHR NM_000145.3(FSHR):c.1724C>T (p.Ala575Val) SNV Likely pathogenic 56031 rs386833511 GRCh37: 2:49190236-49190236
GRCh38: 2:48963097-48963097
26 FSHR NM_000145.3(FSHR):c.1043C>G (p.Pro348Arg) SNV Likely pathogenic 56030 rs386833510 GRCh37: 2:49190917-49190917
GRCh38: 2:48963778-48963778
27 BMP15 NM_005448.2(BMP15):c.462del (p.Trp155fs) Deletion Likely pathogenic 973166 GRCh37: X:50658888-50658888
GRCh38: X:50915888-50915888
28 BMP15 NM_005448.2(BMP15):c.985C>T (p.Arg329Cys) SNV Likely pathogenic 973168 GRCh37: X:50659413-50659413
GRCh38: X:50916413-50916413
29 FSHR NM_000145.4(FSHR):c.1384G>C (p.Ala462Pro) SNV Likely pathogenic 996017 GRCh37: 2:49190576-49190576
GRCh38: 2:48963437-48963437
30 FSHR NM_000145.4(FSHR):c.1862C>T (p.Ala621Val) SNV Likely pathogenic 996018 GRCh37: 2:49190098-49190098
GRCh38: 2:48962959-48962959
31 BMP15 NM_005448.2(BMP15):c.538G>A (p.Ala180Thr) SNV Conflicting interpretations of pathogenicity 11472 rs104894767 GRCh37: X:50658966-50658966
GRCh38: X:50915966-50915966
32 BMP15 NM_005448.2(BMP15):c.596del (p.Gly199fs) Deletion Uncertain significance 632053 rs782784547 GRCh37: X:50659022-50659022
GRCh38: X:50916022-50916022
33 BMP15 NM_005448.2(BMP15):c.811G>T (p.Gly271Cys) SNV Uncertain significance 913022 GRCh37: X:50659239-50659239
GRCh38: X:50916239-50916239
34 BMP15 NM_005448.2(BMP15):c.920A>G (p.His307Arg) SNV Uncertain significance 913023 GRCh37: X:50659348-50659348
GRCh38: X:50916348-50916348
35 FSHR NM_000145.3(FSHR):c.786C>T (p.Val262=) SNV Uncertain significance 336485 rs150863050 GRCh37: 2:49195905-49195905
GRCh38: 2:48968766-48968766
36 FSHR NM_000145.3(FSHR):c.1596G>A (p.Met532Ile) SNV Uncertain significance 336480 rs757909841 GRCh37: 2:49190364-49190364
GRCh38: 2:48963225-48963225
37 FSHR NM_000145.3(FSHR):c.219G>A (p.Glu73=) SNV Uncertain significance 336493 rs377397067 GRCh37: 2:49295363-49295363
GRCh38: 2:49068224-49068224
38 FSHR NM_000145.3(FSHR):c.947A>G (p.Glu316Gly) SNV Uncertain significance 336484 rs886056150 GRCh37: 2:49191013-49191013
GRCh38: 2:48963874-48963874
39 FSHR NM_000145.3(FSHR):c.1576T>C (p.Leu526=) SNV Uncertain significance 336481 rs138281715 GRCh37: 2:49190384-49190384
GRCh38: 2:48963245-48963245
40 FSHR NM_000145.3(FSHR):c.-58T>C SNV Uncertain significance 336494 rs886056153 GRCh37: 2:49381614-49381614
GRCh38: 2:49154475-49154475
41 FSHR NM_000145.4(FSHR):c.-96A>C SNV Uncertain significance 898968 GRCh37: 2:49381652-49381652
GRCh38: 2:49154513-49154513
42 FSHR NM_000145.4(FSHR):c.496G>T (p.Val166Leu) SNV Uncertain significance 898896 GRCh37: 2:49216144-49216144
GRCh38: 2:48989005-48989005
43 FSHR NM_000145.4(FSHR):c.510T>G (p.Phe170Leu) SNV Uncertain significance 898895 GRCh37: 2:49216130-49216130
GRCh38: 2:48988991-48988991
44 FSHR NM_000145.4(FSHR):c.956A>G (p.Glu319Gly) SNV Uncertain significance 898833 GRCh37: 2:49191004-49191004
GRCh38: 2:48963865-48963865
45 FSHR NM_000145.4(FSHR):c.1022T>C (p.Val341Ala) SNV Uncertain significance 898832 GRCh37: 2:49190938-49190938
GRCh38: 2:48963799-48963799
46 FSHR NM_000145.4(FSHR):c.1094T>C (p.Leu365Pro) SNV Uncertain significance 898831 GRCh37: 2:49190866-49190866
GRCh38: 2:48963727-48963727
47 FSHR NM_000145.4(FSHR):c.1145T>C (p.Ile382Thr) SNV Uncertain significance 898830 GRCh37: 2:49190815-49190815
GRCh38: 2:48963676-48963676
48 FSHR NM_000145.4(FSHR):c.*173G>A SNV Uncertain significance 898763 GRCh37: 2:49189699-49189699
GRCh38: 2:48962560-48962560
49 FSHR NM_000145.4(FSHR):c.135G>A (p.Pro45=) SNV Uncertain significance 897816 GRCh37: 2:49381422-49381422
GRCh38: 2:49154283-49154283
50 FSHR NM_000145.4(FSHR):c.636T>C (p.Asp212=) SNV Uncertain significance 897744 GRCh37: 2:49210083-49210083
GRCh38: 2:48982944-48982944

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 GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.46 NR5A1 FSHR
2 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 9.9 SRY SPIDR SOX9 SOX3 PSMC3IP POLR3H
2 chromatin GO:0000785 9.43 SRY SOX9 SOX3 NR5A1 NR0B1 MLX
3 nucleoplasm GO:0005654 9.32 SRY SPIDR SOX9 SOX3 PSMC3IP POLR3H

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.99 SRY SOX9 SOX3 NR5A1 MLX
2 negative regulation of transcription by RNA polymerase II GO:0000122 9.95 SRY SOX9 SOX3 NR0B1 MLX
3 positive regulation of transcription, DNA-templated GO:0045893 9.91 SRY SOX9 PSMC3IP NR5A1 BMP15
4 cell differentiation GO:0030154 9.91 SRY SOX9 SOX3 NR5A1 NR0B1 BNC1
5 regulation of transcription, DNA-templated GO:0006355 9.91 SRY SOX9 SOX3 NUP107 NR5A1 MLX
6 spermatogenesis GO:0007283 9.86 SOX9 NR0B1 FSHR BNC1
7 transcription initiation from RNA polymerase II promoter GO:0006367 9.74 SOX9 NR5A1 NR0B1
8 male gonad development GO:0008584 9.62 SOX9 NR5A1 NR0B1 FSHR
9 ovarian follicle development GO:0001541 9.58 FSHR BMP15
10 pituitary gland development GO:0021983 9.58 SOX3 NR0B1
11 female gamete generation GO:0007292 9.54 FSHR BMP15
12 adrenal gland development GO:0030325 9.52 NR5A1 NR0B1
13 gonad development GO:0008406 9.49 NR0B1 FSHR
14 hypothalamus development GO:0021854 9.48 SOX3 NR0B1
15 Sertoli cell development GO:0060009 9.46 SOX9 FSHR
16 female gonad development GO:0008585 9.43 NUP107 NR5A1 FSHR
17 Sertoli cell differentiation GO:0060008 9.4 SOX9 NR0B1
18 positive regulation of male gonad development GO:2000020 9.33 SRY SOX9 NR5A1
19 sex determination GO:0007530 9.13 SOX3 NR5A1 NR0B1
20 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 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.55 SRY SOX9 SOX3 NR5A1 MLX
2 sequence-specific double-stranded DNA binding GO:1990837 9.26 SOX9 SOX3 NR5A1 MLX
3 DNA binding GO:0003677 9.23 SRY SOX9 SOX3 PSMC3IP POLR3H NR5A1

Sources for 46,xx Sex Reversal 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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