SRXY3
MCID: 46X055
MIFTS: 40

46,xy Sex Reversal 3 (SRXY3)

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

Aliases & Classifications for 46,xy Sex Reversal 3

MalaCards integrated aliases for 46,xy Sex Reversal 3:

Name: 46,xy Sex Reversal 3 57 12 72 70
46,xy Sex Reversal, Type 3 29 6 39
Srxy3 57 12 72
46,xy Gonadal Dysgenesis, Partial or Complete, with or Without Adrenal Failure 57 12
46,xy Sex Reversal, Partial or Complete, Nr5a1-Related 57 12
Sex Reversal, Xy, with or Without Adrenal Failure 57 12
Disorder of Sex Development, 46,xy, Nr5a1-Related 57 12
46xy Sex Reversal 3 57 13
Complete or Partial 46,xy Gonadal Dysgenesis with or Without Adrenal Failure 72
46,xy Sex Reversal Partial or Complete Nr5a1-Related 72
Xy Sex Reversal with or Without Adrenal Failure 72
46,xy Disorder of Sex Development 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
patients are 46,xy individuals who may be phenotypically female
familial cases may have affected 46,xx family members who exhibit premature ovarian failure (see pof7, )


HPO:

31
46,xy sex reversal 3:
Inheritance sex-limited autosomal dominant


Classifications:



External Ids:

Disease Ontology 12 DOID:0111772
OMIM® 57 612965
OMIM Phenotypic Series 57 PS400044
MeSH 44 D006061
UMLS 70 C3489793

Summaries for 46,xy Sex Reversal 3

Disease Ontology : 12 A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has material basis in heterozygous mutation in NR5A1 on chromosome 9q33.3.

MalaCards based summary : 46,xy Sex Reversal 3, also known as 46,xy sex reversal, type 3, is related to hypospadias and 46,xy partial gonadal dysgenesis. An important gene associated with 46,xy Sex Reversal 3 is NR5A1 (Nuclear Receptor Subfamily 5 Group A Member 1). Affiliated tissues include testes, uterus and brain, and related phenotypes are ambiguous genitalia and hypoplasia of the uterus

UniProtKB/Swiss-Prot : 72 46,XY sex reversal 3: A condition characterized by male-to-female sex reversal in the presence of a normal 46,XY karyotype.

More information from OMIM: 612965 PS400044

Related Diseases for 46,xy Sex Reversal 3

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 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 74)
# Related Disease Score Top Affiliating Genes
1 hypospadias 30.2 NR5A1 GATA4
2 46,xy partial gonadal dysgenesis 29.8 NR5A1 GATA4
3 cryptorchidism, unilateral or bilateral 29.6 NR5A1 GATA4
4 leydig cell hypoplasia, type i 12.0
5 leydig cell hypoplasia 11.9
6 syndrome with 46,xy disorder of sex development 11.8
7 hypogonadotropic hypogonadism 23 without anosmia 11.8
8 17-beta hydroxysteroid dehydrogenase iii deficiency 11.6
9 pseudovaginal perineoscrotal hypospadias 11.5
10 adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency 11.5
11 adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete 11.5
12 46,xy sex reversal 8 11.5
13 pontocerebellar hypoplasia, type 7 11.5
14 genetic 46,xy disorder of sex development of endocrine origin 11.5
15 genetic 46,xy disorder of sex development 11.5
16 46,xy disorder of sex development of gynecological interest 11.5
17 46,xy disorder of sex development due to a cholesterol synthesis defect 11.5
18 46,xy disorder of sex development due to impaired androgen production 11.5
19 46,xy disorder of sex development induced by maternal exposure to endocrine disruptors 11.5
20 46,xy disorder of sex development of endocrine origin 11.5
21 46,xy disorder of sex development due to testicular steroidogenesis defect 11.5
22 46,xy disorder of sex development due to adrenal and testicular steroidogenesis defect 11.5
23 46,xy disorder of sex development due to a testosterone synthesis defect 11.5
24 46,xy disorder of sex development due to a defect in testosterone metabolism by peripheral tissue 11.5
25 46, xy disorders of sexual development 11.4
26 aromatase deficiency 11.3
27 testicular anomalies with or without congenital heart disease 11.3
28 persistent mullerian duct syndrome 11.3
29 disorder of sexual development 10.9
30 gonadal dysgenesis 10.7
31 amenorrhea 10.5
32 androgen insensitivity syndrome 10.4
33 penis agenesis 10.4
34 lipoid congenital adrenal hyperplasia 10.3
35 autosomal recessive disease 10.3
36 mixed gonadal dysgenesis 10.3
37 hypogonadism 10.3
38 infertility 10.3
39 frasier syndrome 10.2
40 chromosome 2q35 duplication syndrome 10.2
41 wilms tumor 1 10.2
42 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 10.2
43 denys-drash syndrome 10.2
44 ovarian dysgenesis 1 10.2
45 methemoglobinemia and ambiguous genitalia 10.2
46 spermatogenic failure 1 10.2
47 smith-lemli-opitz syndrome 10.2
48 opitz gbbb syndrome, type i 10.2
49 spinal and bulbar muscular atrophy, x-linked 1 10.2
50 46,xy sex reversal 1 10.2

Graphical network of the top 20 diseases related to 46,xy Sex Reversal 3:



Diseases related to 46,xy Sex Reversal 3

Symptoms & Phenotypes for 46,xy Sex Reversal 3

Human phenotypes related to 46,xy Sex Reversal 3:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 ambiguous genitalia 31 occasional (7.5%) HP:0000062
2 hypoplasia of the uterus 31 occasional (7.5%) HP:0000013
3 clitoral hypertrophy 31 very rare (1%) HP:0008665
4 sex reversal 31 very rare (1%) HP:0012245
5 elevated circulating follicle stimulating hormone level 31 very rare (1%) HP:0008232
6 elevated circulating luteinizing hormone level 31 very rare (1%) HP:0011969
7 penoscrotal hypospadias 31 very rare (1%) HP:0000808
8 exaggerated rugosity of the labia majora 31 very rare (1%) HP:0030913
9 gonadal dysgenesis 31 HP:0000133

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Genitourinary External Genitalia Male:
penoscrotal hypospadias
small phallus
ambiguous external genitalia (in some patients)

Chest Breasts:
small breasts (in some patients)

Genitourinary Internal Genitalia Female:
small uterus (in some patients)

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

Genitourinary External Genitalia Female:
hypertrophic clitoris (in some patients)
female-appearing genitalia (in some patients)
labial rugosity (in some patients)
labioscrotal folds (in some patients)

Genitourinary Internal Genitalia Male:
labial or labioscrotal testes (in some patients)
high scrotal testes (in some patients)
inguinal testes (in some patients)
pelvic testes (in some patients)
testicular tissue on gonadal histology (in some patients)
more

Clinical features from OMIM®:

612965 (Updated 05-Apr-2021)

Drugs & Therapeutics for 46,xy Sex Reversal 3

Search Clinical Trials , NIH Clinical Center for 46,xy Sex Reversal 3

Genetic Tests for 46,xy Sex Reversal 3

Genetic tests related to 46,xy Sex Reversal 3:

# Genetic test Affiliating Genes
1 46,xy Sex Reversal, Type 3 29 NR5A1

Anatomical Context for 46,xy Sex Reversal 3

MalaCards organs/tissues related to 46,xy Sex Reversal 3:

40
Testes, Uterus, Brain, Spleen, Thymus, Ovary, Prostate

Publications for 46,xy Sex Reversal 3

Articles related to 46,xy Sex Reversal 3:

(show top 50) (show all 107)
# Title Authors PMID Year
1
Mutations in NR5A1 associated with ovarian insufficiency. 6 57
19246354 2009
2
Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency. 6 57
17694559 2008
3
Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function. 57 6
17200175 2007
4
A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans. 57 6
10369247 1999
5
Human NR5A1/SF-1 mutations show decreased activity on BDNF (brain-derived neurotrophic factor), an important regulator of energy balance: testing impact of novel SF-1 mutations beyond steroidogenesis. 6 61
25122490 2014
6
Preserved fertility in a patient with a 46,XY disorder of sex development due to a new heterozygous mutation in the NR5A1/SF-1 gene: evidence of 46,XY and 46,XX gonadal dysgenesis phenotype variability in multiple members of an affected kindred. 61 6
22907560 2012
7
The p.G146A and p.P125P polymorphisms in the steroidogenic factor-1 (SF-1) gene do not affect the risk for hypospadias in Caucasians. 61 6
23154282 2012
8
Novel NR5A1 mutations found in Chinese patients with 46, XY disorders of sex development. 6
30103258 2018
9
Mutational and functional studies on NR5A1 gene in 46,XY disorders of sex development: identification of six novel loss of function mutations. 6
29935645 2018
10
Next-generation sequencing reveals genetic landscape in 46, XY disorders of sexual development patients with variable phenotypes. 6
29582157 2018
11
Phenotype and Molecular Characterizations of 30 Children From China With NR5A1 Mutations. 6
30425642 2018
12
SF1 and spleen development: new heterozygous mutation, literature review and consequences for NR5A1-mutated patient's management. 6
28032338 2017
13
NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development. 6
27490115 2017
14
Identical NR5A1 Missense Mutations in Two Unrelated 46,XX Individuals with Testicular Tissues. 6
27610946 2017
15
A novel C-terminal truncating NR5A1 mutation in dizygotic twins. 6
28326187 2017
16
A 46,XX Ovotesticular Disorder of Sex Development Likely Caused by a Steroidogenic Factor-1 (NR5A1) Variant. 6
27855412 2017
17
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort. 6
27899157 2016
18
A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development. 6
27378692 2016
19
Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort. 6
26523528 2016
20
Identification of NR5A1 Mutations and Possible Digenic Inheritance in 46,XY Gonadal Dysgenesis. 6
27169744 2016
21
Exome sequencing for the diagnosis of 46,XY disorders of sex development. 6
25383892 2015
22
Screening and familial characterization of copy-number variations in NR5A1 in 46,XY disorders of sex development and premature ovarian failure. 57
23918653 2013
23
Testosterone production during puberty in two 46,XY patients with disorders of sex development and novel NR5A1 (SF-1) mutations. 6
22474171 2012
24
Mutation analysis of NR5A1 encoding steroidogenic factor 1 in 77 patients with 46, XY disorders of sex development (DSD) including hypospadias. 6
22028768 2011
25
A unique 970kb microdeletion in 9q33.3, including the NR5A1 gene in a 46,XY female. 6
19269353 2009
26
Genetics of sexual development: a new paradigm. 57
18000910 2007
27
Consensus statement on management of intersex disorders. International Consensus Conference on Intersex. 57
16882788 2006
28
Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: ten years' experience. 57
16684822 2006
29
Testicular dysgenesis without adrenal insufficiency in a 46,XY patient with a heterozygous inactive mutation of steroidogenic factor-1. 6
15579739 2004
30
Gonadal dysgenesis without adrenal insufficiency in a 46, XY patient heterozygous for the nonsense C16X mutation: a case of SF1 haploinsufficiency. 6
15472171 2004
31
A microdeletion in the ligand binding domain of human steroidogenic factor 1 causes XY sex reversal without adrenal insufficiency. 6
15070943 2004
32
A mutated form of steroidogenic factor 1 (SF-1 G35E) that causes sex reversal in humans fails to synergize with transcription factor GATA-4. 6
12907682 2003
33
Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic factor-1, in a dose-dependent manner. 6
11932325 2002
34
A cell-specific nuclear receptor is essential for adrenal and gonadal development and sexual differentiation. 57
8187173 1994
35
Identification of two AMH gene variants in two unrelated patients with persistent Müllerian duct syndrome: one novel variant. 61
33787423 2021
36
17β-hydroxysteroid dehydrogenase type 3 deficiency: female sex assignment and follow-up. 61
32297288 2020
37
Androgens by immunoassay and mass spectrometry in children with 46,XY disorder of sex development. 61
33112837 2020
38
A novel missense heterozygous mutation in MAP3K1 gene causes 46, XY disorder of sex development: case report and literature review. 61
32986312 2020
39
Nonsense-associated altered splicing of MAP3K1 in two siblings with 46,XY disorders of sex development. 61
33060765 2020
40
46, XY disorder of sex development (DSD) complicated by a serous borderline tumor of the ovary: a case report and review of the literature. 61
32703224 2020
41
A Rare Etiology of 46,XY Disorder of Sex Development and Adrenal Insufficiency: A Case of MIRAGE Syndrome Caused by Mutations in the SAMD9 Gene 61
31208161 2020
42
Novel Deleterious Mutation in Steroid-5α-Reductase-2 in 46, XY Disorders of Sex Development: Case Report Study. 61
32449406 2020
43
5α-Reductase type 2 deficiency in families from an isolated Andean population in Venezuela. 61
31613402 2020
44
[Disorders of sex development 46 XY and bilateral metachronous wilms tumor in a child with mutation in exon 7 of WT1 gene]. 61
32003178 2019
45
Compound heterozygous mutations in the luteinizing hormone receptor signal peptide causing 46,XY disorder of sex development. 61
31167162 2019
46
Molecular genetics and phenotype/genotype correlation of 5-α reductase deficiency in a highly consanguineous population. 61
30269266 2019
47
Molecular Characteristics of Sequence Variants in GATA4 in Patients with 46,XY Disorders of Sex Development without Cardiac Defects. 61
32992319 2019
48
Once-Daily Low-Dose Cyclosporine A Treatment with Angiotensin Blockade for Long-Term Remission of Nephropathy in Frasier Syndrome. 61
30651406 2019
49
GATA4 variant identified by whole-exome sequencing in a Japanese family with atrial septal defect: Implications for male sex development. 61
30455927 2018
50
Identification of a novel mutation in the SRD5A2 gene of one patient with 46,XY disorder of sex development. 61
29798939 2018

Variations for 46,xy Sex Reversal 3

ClinVar genetic disease variations for 46,xy Sex Reversal 3:

6 (show top 50) (show all 57)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NR5A1 NM_004959.5(NR5A1):c.34_38delinsGACCTGGACCTGT (p.Leu12fs) Indel Pathogenic 436032 rs1554721883 GRCh37: 9:127265637-127265641
GRCh38: 9:124503358-124503362
2 GATA4 NM_001308093.3(GATA4):c.687G>C (p.Trp229Cys) SNV Pathogenic 805889 rs1585684790 GRCh37: 8:11606495-11606495
GRCh38: 8:11748986-11748986
3 NR5A1 NM_004959.5(NR5A1):c.129_131CAA[1] (p.Asn44del) Microsatellite Pathogenic 851632 GRCh37: 9:127265468-127265470
GRCh38: 9:124503189-124503191
4 NR5A1 NM_004959.5(NR5A1):c.334C>T (p.Gln112Ter) SNV Pathogenic 958902 GRCh37: 9:127262905-127262905
GRCh38: 9:124500626-124500626
5 NR5A1 NM_004959.5(NR5A1):c.666del (p.Asn222fs) Deletion Pathogenic 12804 rs606231206 GRCh37: 9:127262573-127262573
GRCh38: 9:124500294-124500294
6 NR5A1 NM_004959.5(NR5A1):c.877G>A (p.Asp293Asn) SNV Pathogenic 12805 rs121918655 GRCh37: 9:127255422-127255422
GRCh38: 9:124493143-124493143
7 NR5A1 NM_004959.5(NR5A1):c.3G>A (p.Met1Ile) SNV Pathogenic 12806 rs121918656 GRCh37: 9:127265672-127265672
GRCh38: 9:124503393-124503393
8 NR5A1 NM_004959.5(NR5A1):c.390del (p.Pro131fs) Deletion Pathogenic 12807 rs606231207 GRCh37: 9:127262849-127262849
GRCh38: 9:124500570-124500570
9 NR5A1 NM_004959.5(NR5A1):c.151G>T (p.Glu51Ter) SNV Pathogenic 216975 rs775441984 GRCh37: 9:127265451-127265451
GRCh38: 9:124503172-124503172
10 NR5A1 NM_004959.5(NR5A1):c.1210T>G (p.Tyr404Asp) SNV Pathogenic 216976 rs863224904 GRCh37: 9:127245213-127245213
GRCh38: 9:124482934-124482934
11 NR5A1 NM_004959.5(NR5A1):c.1310T>A (p.Leu437Gln) SNV Pathogenic 12803 rs104894120 GRCh37: 9:127245113-127245113
GRCh38: 9:124482834-124482834
12 NR5A1 NM_004959.5(NR5A1):c.271G>A (p.Gly91Ser) SNV Pathogenic 12802 rs104894126 GRCh37: 9:127262968-127262968
GRCh38: 9:124500689-124500689
13 NR5A1 NM_004959.5(NR5A1):c.234G>A (p.Met78Ile) SNV Pathogenic 12801 rs104894125 GRCh37: 9:127265368-127265368
GRCh38: 9:124503089-124503089
14 NR5A1 NM_004959.5(NR5A1):c.43G>A (p.Val15Met) SNV Pathogenic 12800 rs104894124 GRCh37: 9:127265632-127265632
GRCh38: 9:124503353-124503353
15 NR5A1 NM_004959.5(NR5A1):c.18del (p.Asp6fs) Deletion Pathogenic 12799 rs606231205 GRCh37: 9:127265657-127265657
GRCh38: 9:124503378-124503378
16 NR5A1 NM_004959.5(NR5A1):c.48C>A (p.Cys16Ter) SNV Pathogenic 12798 rs104894123 GRCh37: 9:127265627-127265627
GRCh38: 9:124503348-124503348
17 NR5A1 NR5A1, 8-BP DEL, NT1058 Deletion Pathogenic 12797 GRCh37:
GRCh38:
18 NR5A1 NM_004959.5(NR5A1):c.104_105delinsAA (p.Gly35Glu) Indel Pathogenic 12794 rs121918654 GRCh37: 9:127265497-127265498
GRCh38: 9:124503218-124503219
19 NR5A1 NM_004959.5(NR5A1):c.937C>T (p.Arg313Cys) SNV Pathogenic 372437 rs1057517779 GRCh37: 9:127255362-127255362
GRCh38: 9:124493083-124493083
20 NR5A1 NM_004959.5(NR5A1):c.275G>A (p.Arg92Gln) SNV Pathogenic 12796 rs104894119 GRCh37: 9:127262964-127262964
GRCh38: 9:124500685-124500685
21 NR5A1 NC_000009.12:g.(?_124481358)_(124505411_?)del Deletion Pathogenic 833100 GRCh37: 9:127243637-127267690
GRCh38:
22 NR5A1 NM_004959.5(NR5A1):c.274C>T (p.Arg92Trp) SNV Likely pathogenic 265792 rs886039769 GRCh37: 9:127262965-127262965
GRCh38: 9:124500686-124500686
23 NR5A1 NM_004959.5(NR5A1):c.990G>A (p.Glu330=) SNV Likely pathogenic 666298 rs1588618614 GRCh37: 9:127255309-127255309
GRCh38: 9:124493030-124493030
24 NR5A1 NC_000009.12:g.(?_124482420)_(124482928_?)del Deletion Likely pathogenic 538430 GRCh37: 9:127244699-127245207
GRCh38: 9:124482420-124482928
25 NR5A1 NM_004959.5(NR5A1):c.455_536del (p.Leu152fs) Deletion Likely pathogenic 800770 rs1588621944 GRCh37: 9:127262703-127262784
GRCh38: 9:124500424-124500505
26 NR5A1 NM_004959.5(NR5A1):c.982G>A (p.Gly328Arg) SNV Likely pathogenic 958009 GRCh37: 9:127255317-127255317
GRCh38: 9:124493038-124493038
27 NR5A1 NM_004959.5(NR5A1):c.938G>T (p.Arg313Leu) SNV Likely pathogenic 436030 rs1554721235 GRCh37: 9:127255361-127255361
GRCh38: 9:124493082-124493082
28 NR5A1 NM_004959.5(NR5A1):c.937C>T (p.Arg313Cys) SNV Likely pathogenic 372437 rs1057517779 GRCh37: 9:127255362-127255362
GRCh38: 9:124493083-124493083
29 NR5A1 NM_004959.5(NR5A1):c.1227C>G (p.Tyr409Ter) SNV Likely pathogenic 583141 rs1564146922 GRCh37: 9:127245196-127245196
GRCh38: 9:124482917-124482917
30 NR5A1 NM_004959.5(NR5A1):c.251G>A (p.Arg84His) SNV Likely pathogenic 641278 rs375469069 GRCh37: 9:127262988-127262988
GRCh38: 9:124500709-124500709
31 NR5A1 NM_004959.5(NR5A1):c.942G>C (p.Gln314His) SNV Uncertain significance 641462 rs201103618 GRCh37: 9:127255357-127255357
GRCh38: 9:124493078-124493078
32 NR5A1 NM_004959.5(NR5A1):c.88T>C (p.Cys30Arg) SNV Uncertain significance 570773 rs1564153753 GRCh37: 9:127265587-127265587
GRCh38: 9:124503308-124503308
33 NR5A1 NM_004959.5(NR5A1):c.400C>T (p.Pro134Ser) SNV Uncertain significance 1016720 GRCh37: 9:127262839-127262839
GRCh38: 9:124500560-124500560
34 NR5A1 NM_004959.5(NR5A1):c.1307A>G (p.Tyr436Cys) SNV Uncertain significance 846546 GRCh37: 9:127245116-127245116
GRCh38: 9:124482837-124482837
35 NR5A1 NM_004959.5(NR5A1):c.236_238del (p.Arg79del) Deletion Uncertain significance 471062 rs1554721859 GRCh37: 9:127265364-127265366
GRCh38: 9:124503085-124503087
36 NR5A1 NM_004959.5(NR5A1):c.460G>A (p.Ala154Thr) SNV Uncertain significance 656582 rs761496130 GRCh37: 9:127262779-127262779
GRCh38: 9:124500500-124500500
37 NR5A1 NM_004959.5(NR5A1):c.1138+5G>A SNV Uncertain significance 941517 GRCh37: 9:127253355-127253355
GRCh38: 9:124491076-124491076
38 NR5A1 NM_004959.5(NR5A1):c.219C>G (p.Cys73Trp) SNV Uncertain significance 935575 GRCh37: 9:127265383-127265383
GRCh38: 9:124503104-124503104
39 NR5A1 NM_004959.5(NR5A1):c.428G>C (p.Ser143Thr) SNV Uncertain significance 1009399 GRCh37: 9:127262811-127262811
GRCh38: 9:124500532-124500532
40 NR5A1 NM_004959.5(NR5A1):c.633C>T (p.Tyr211=) SNV Likely benign 704615 rs374363746 GRCh37: 9:127262606-127262606
GRCh38: 9:124500327-124500327
41 ZFPM2-AS1 , ZFPM2 NM_012082.4(ZFPM2):c.1612G>A (p.Val538Ile) SNV Benign 805890 rs575054307 GRCh37: 8:106813922-106813922
GRCh38: 8:105801694-105801694
42 ZFPM2-AS1 , ZFPM2 NM_012082.4(ZFPM2):c.1255G>A (p.Glu419Lys) SNV Benign 805891 rs374581095 GRCh37: 8:106813565-106813565
GRCh38: 8:105801337-105801337
43 ZFPM2-AS1 , ZFPM2 NM_012082.4(ZFPM2):c.1003C>G (p.Leu335Val) SNV Benign 805892 rs376235097 GRCh37: 8:106813313-106813313
GRCh38: 8:105801085-105801085
44 ZFPM2-AS1 , ZFPM2 NM_012082.4(ZFPM2):c.1770G>C (p.Lys590Asn) SNV Benign 805893 rs533177469 GRCh37: 8:106814080-106814080
GRCh38: 8:105801852-105801852
45 NR5A1 NM_004959.5(NR5A1):c.516C>T (p.Ala172=) SNV Benign 138537 rs113506523 GRCh37: 9:127262723-127262723
GRCh38: 9:124500444-124500444
46 ZFPM2-AS1 , ZFPM2 NM_012082.4(ZFPM2):c.2107A>C (p.Met703Leu) SNV Benign 6130 rs121908603 GRCh37: 8:106814417-106814417
GRCh38: 8:105802189-105802189
47 ZFPM2-AS1 , ZFPM2 NM_012082.4(ZFPM2):c.1632G>A (p.Met544Ile) SNV Benign 39518 rs187043152 GRCh37: 8:106813942-106813942
GRCh38: 8:105801714-105801714
48 ZFPM2-AS1 , ZFPM2 NM_012082.4(ZFPM2):c.629G>C (p.Ser210Thr) SNV Benign 260179 rs182216711 GRCh37: 8:106801042-106801042
GRCh38: 8:105788814-105788814
49 ZFPM2 NM_012082.4(ZFPM2):c.292G>A (p.Asp98Asn) SNV Benign 240844 rs202217256 GRCh37: 8:106456600-106456600
GRCh38: 8:105444372-105444372
50 ZFPM2 NM_012082.4(ZFPM2):c.89A>G (p.Glu30Gly) SNV Benign 6128 rs121908601 GRCh37: 8:106431420-106431420
GRCh38: 8:105419192-105419192

UniProtKB/Swiss-Prot genetic disease variations for 46,xy Sex Reversal 3:

72 (show all 11)
# Symbol AA change Variation ID SNP ID
1 NR5A1 p.Gly35Glu VAR_004737 rs121918654
2 NR5A1 p.Arg92Gln VAR_016982 rs104894119
3 NR5A1 p.Cys33Ser VAR_039106
4 NR5A1 p.Arg84His VAR_039107 rs375469069
5 NR5A1 p.Val15Met VAR_063255 rs104894124
6 NR5A1 p.Met78Ile VAR_063256 rs104894125
7 NR5A1 p.Gly91Ser VAR_063257 rs104894126
8 NR5A1 p.Leu437Gln VAR_063258 rs104894120
9 NR5A1 p.Cys65Tyr VAR_078136
10 NR5A1 p.Arg92Trp VAR_078137 rs886039769
11 NR5A1 p.Thr40Pro VAR_079572

Expression for 46,xy Sex Reversal 3

Search GEO for disease gene expression data for 46,xy Sex Reversal 3.

Pathways for 46,xy Sex Reversal 3

GO Terms for 46,xy Sex Reversal 3

Cellular components related to 46,xy Sex Reversal 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II transcription factor complex GO:0090575 8.62 NR5A1 GATA4

Biological processes related to 46,xy Sex Reversal 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 8.96 NR5A1 GATA4
2 male gonad development GO:0008584 8.62 NR5A1 GATA4

Molecular functions related to 46,xy Sex Reversal 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 zinc ion binding GO:0008270 9.32 NR5A1 GATA4
2 DNA-binding transcription factor activity GO:0003700 9.26 NR5A1 GATA4
3 sequence-specific double-stranded DNA binding GO:1990837 9.16 NR5A1 GATA4
4 sequence-specific DNA binding GO:0043565 8.96 NR5A1 GATA4
5 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 8.62 NR5A1 GATA4

Sources for 46,xy Sex Reversal 3

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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