Aliases & Classifications for 46,xy Sex Reversal 1

MalaCards integrated aliases for 46,xy Sex Reversal 1:

Name: 46,xy Sex Reversal 1 57 75
46,xy Sex Reversal, Type 1 29 6 40
46,xy Gonadal Dysgenesis, Complete, Sry-Related 57 73
46xy Sex Reversal 1 57 13
Swyer Syndrome 75 73
Srxy1 57 75
46,xy Gonadal Dysgenesis Complete Sry-Related 75
46,xy True Hermaphroditism, Sry-Related 6
46,xy True Hermaphroditism Sry-Related 75
Gonadal Dysgenesis Xy Female Type 75
46,xy Sex Reversal, Sry-Related 57
46,xy Sex Reversal Sry-Related 75
Gonadal Dysgenesis, 46,xy 73
46, Xy Female 73
Xy Females 75

Classifications:



Summaries for 46,xy Sex Reversal 1

UniProtKB/Swiss-Prot : 75 46,XY sex reversal 1: A condition characterized by male-to-female sex reversal in the presence of a normal 46,XY karyotype. Patients manifest rapid and early degeneration of their gonads, which are present in the adult as 'streak gonads', consisting mainly of fibrous tissue and variable amounts of ovarian stroma. As a result these patients do not develop secondary sexual characteristics at puberty. The external genitalia in these subjects are completely female, and Muellerian structures are normal.

MalaCards based summary : 46,xy Sex Reversal 1, also known as 46,xy sex reversal, type 1, is related to 46, xy disorders of sexual development and 46 xy gonadal dysgenesis. An important gene associated with 46,xy Sex Reversal 1 is SRY (Sex Determining Region Y). Affiliated tissues include uterus, lymph node and breast, and related phenotypes are primary amenorrhea and absence of secondary sex characteristics

OMIM : 57 Individuals with 46,XY complete gonadal dysgenesis are phenotypically female; however, they do not develop secondary sexual characteristics at puberty and do not menstruate. They have bilateral 'streak gonads,' which typically consist of fibrous tissue and variable amounts of wavy ovarian stroma. A uterus and fallopian tube are present and external genitalia are female (reviewed by Berkovitz et al., 1991). (400044)

Related Diseases for 46,xy Sex Reversal 1

Diseases related to 46,xy Sex Reversal 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 46, xy disorders of sexual development 11.7
2 46 xy gonadal dysgenesis 11.6
3 46,xy sex reversal 10 11.0

Symptoms & Phenotypes for 46,xy Sex Reversal 1

Clinical features from OMIM:

400044

Human phenotypes related to 46,xy Sex Reversal 1:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 primary amenorrhea 32 HP:0000786
2 absence of secondary sex characteristics 32 HP:0008187
3 male pseudohermaphroditism 32 HP:0000037
4 tall stature 32 HP:0000098
5 abnormality of female external genitalia 32 HP:0000055
6 sex reversal 32 HP:0012245
7 gonadal dysgenesis 32 HP:0000133

Drugs & Therapeutics for 46,xy Sex Reversal 1

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

Genetic Tests for 46,xy Sex Reversal 1

Genetic tests related to 46,xy Sex Reversal 1:

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

Anatomical Context for 46,xy Sex Reversal 1

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

41
Uterus, Lymph Node, Breast

Publications for 46,xy Sex Reversal 1

Articles related to 46,xy Sex Reversal 1:

(show top 50) (show all 55)
# Title Authors Year
1
Twin gestation in a Swyer syndrome patient with superimposed pre-eclampsia. ( 29421927 )
2018
2
Dysgerminoma and Gonadoblastoma with Para-aortic Lymph Node Metastasis in a Patient with Swyer Syndrome. ( 28748865 )
2017
3
Swyer Syndrome With Gonadoblastoma: A Clinicoradiological Approach. ( 28479759 )
2017
4
Swyer syndrome in a woman with pure 46,XY gonadal dysgenesis: a rare presentation. ( 29746049 )
2017
5
A Case of Primary Amenorrhea with Swyer Syndrome. ( 29430160 )
2017
6
Dysgerminoma and gonadoblastoma in the course of Swyer syndrome. ( 28547971 )
2016
7
Imaging Findings in Dysgerminoma in a Case of 46 XY, Complete Gonadal Dysgenesis (Swyer syndrome). ( 27790550 )
2016
8
Mixed Germ Cell Tumour in a Case of Pure Gonadal Dysgenesis (Swyer Syndrome) - A Case Report. ( 26918227 )
2016
9
A case of swyer syndrome associated with advanced gonadal dysgerminoma involving long survival. ( 25960730 )
2015
10
A germ cell tumor in a patient with Swyer syndrome with ambiguous genitalia. ( 26643315 )
2015
11
The laparoscopic management of Swyer syndrome: Case series. ( 26692777 )
2015
12
Incidental gonadal tumors at the time of gonadectomy in women with swyer syndrome: a case series. ( 25532682 )
2015
13
Dysgerminoma on a gonadoblastoma in a patient with Swyer syndrome treated with single incision laparoscopic surgery. ( 24960113 )
2014
14
Swyer syndrome. ( 25314337 )
2014
15
Swyer Syndrome With Seminoma: Laparoscopic Bilateral Gonad Resection. ( 25460519 )
2014
16
Pure gonadal dysgenesis (Swyer syndrome) due to microdeletion in the SRY gene: a case report. ( 25153220 )
2014
17
Familial Swyer syndrome in two sisters with undeveloped uterus. ( 24832210 )
2014
18
Anti-Ma-associated encephalitis due to dysgerminoma in a woman with Swyer syndrome. ( 24711536 )
2014
19
Anti-Ma-associated encephalitis due to dysgerminoma in a woman with Swyer syndrome. ( 23486885 )
2013
20
Differentiating Swyer Syndrome and Complete Androgen Insensitivity Syndrome: A Diagnostic Dilemma. ( 24119655 )
2013
21
Swyer syndrome in a woman with pure 46, XY gonadal dysgenesis and a hypoplastic uterus. ( 25606286 )
2013
22
Bilateral dysgerminoma in a patient with a previous diagnosis of Swyer syndrome. ( 22176344 )
2012
23
Swyer syndrome : a case report with literature review. ( 23478733 )
2012
24
Successful pregnancy in a Swyer syndrome patient with preexisting hypertension. ( 21782051 )
2011
25
Dysgerminoma in a case of 46, XY pure gonadal dysgenesis (Swyer syndrome): a case report. ( 21929773 )
2011
26
Pregnancy in patient with Swyer syndrome. ( 21195397 )
2011
27
Swyer syndrome, 46,XY gonadal dysgenesis, a sex reversal disorder with dysgerminoma: a case report and literature review. ( 22268289 )
2011
28
Complete gonadal dysgenesis 46,XY (Swyer syndrome) in two sisters and their mother's maternal aunt with a female phenotype. ( 21145048 )
2011
29
Malignant germ cell tumors associated with Swyer syndrome. ( 21225934 )
2011
30
Swyer syndrome in a woman with pure 46,XY gonadal dysgenesis and a hypoplastic uterus: a rare presentation. ( 19914618 )
2010
31
Bilateral gonadoblastomas with unilateral dysgerminoma in a case of 46 XY pure gonadal dysgenesis (Swyer syndrome). ( 20551568 )
2010
32
Hypoplastic uterus and clitoris enlargement in Swyer syndrome. ( 19643642 )
2010
33
Identification of a new mutation in the SRY gene in a 46,XY woman with Swyer syndrome. ( 18990383 )
2009
34
Swyer syndrome: presentation and outcomes. ( 18410658 )
2008
35
Gonadoblastoma-associated mixed germ cell tumour in 46,XY complete gonadal dysgenesis (Swyer syndrome): analysis of Y chromosomal genotype and OCT3/4 and TSPY expression profile. ( 18312345 )
2008
36
Medical image. A prepubescent mass. Swyer syndrome with a bilateral dysgerminoma. ( 18392069 )
2008
37
Pure 46,XY gonadal dysgenesis (Swyer syndrome) with breast development and secondary amenorrhea. ( 18645253 )
2008
38
Dysgerminoma in three patients with Swyer syndrome. ( 17587461 )
2007
39
Tumors of dysgenetic gonads in Swyer syndrome. ( 17923202 )
2007
40
Multiple different ovarian cancer histotypes in a patient affected by Swyer syndrome. ( 16677695 )
2006
41
Haemophilia A in a female caused by coincidence of a Swyer syndrome and a missense mutation in factor VIII gene. ( 16601852 )
2006
42
Swyer syndrome with SRY + Y chromosome and rudimentary internal genitalia demonstrating temporary action of antimA1llerian hormone in utero: a case report. ( 16846094 )
2006
43
Description and molecular analysis of SRY and AR genes in a patient with 46,XY pure gonadal dysgenesis (Swyer syndrome). ( 15183752 )
2004
44
46,XY sex-reversal (Swyer syndrome) and congenital diaphragmatic hernia. ( 15389702 )
2004
45
Familial ovarian dysgerminomas (Swyer syndrome) in females associated with 46 XY-karyotype. ( 12012620 )
2002
46
Swyer syndrome and 46,XY partial gonadal dysgenesis associated with 9p deletions in the absence of monosomy-9p syndrome. ( 9718353 )
1998
47
A novel double nucleotide substitution in the HMG box of the SRY gene associated with Swyer syndrome. ( 9341876 )
1997
48
Swyer syndrome: an unusual presentation. ( 7649326 )
1995
49
Intestinal invasion by a dysgerminoma in a patient with Swyer syndrome. ( 1495740 )
1992
50
Laparoscopic removal of dysgenetic gonads containing a gonadoblastoma in a patient with Swyer syndrome. ( 1533025 )
1992

Variations for 46,xy Sex Reversal 1

UniProtKB/Swiss-Prot genetic disease variations for 46,xy Sex Reversal 1:

75 (show all 27)
# Symbol AA change Variation ID SNP ID
1 SRY p.Ser18Asn VAR_003717 rs104894971
2 SRY p.Val60Ala VAR_003718 rs764249635
3 SRY p.Val60Leu VAR_003719 rs104894957
4 SRY p.Arg62Gly VAR_003720
5 SRY p.Met64Ile VAR_003721 rs104894969
6 SRY p.Ile68Thr VAR_003722 rs104894968
7 SRY p.Met78Thr VAR_003723
8 SRY p.Ile90Met VAR_003724 rs104894959
9 SRY p.Ser91Gly VAR_003725
10 SRY p.Gly95Arg VAR_003726 rs104894974
11 SRY p.Leu101His VAR_003727
12 SRY p.Lys106Ile VAR_003728 rs104894964
13 SRY p.Pro108Arg VAR_003729
14 SRY p.Phe109Ser VAR_003730 rs104894956
15 SRY p.Ala113Thr VAR_003731 rs104894966
16 SRY p.Pro125Leu VAR_003732
17 SRY p.Tyr127Cys VAR_003733
18 SRY p.Arg133Trp VAR_003734 rs104894976
19 SRY p.Met64Arg VAR_017298
20 SRY p.Phe67Val VAR_017299
21 SRY p.Arg76Ser VAR_017300
22 SRY p.Asn87Tyr VAR_017301
23 SRY p.Gly95Glu VAR_017302 rs104894972
24 SRY p.Tyr127Phe VAR_017303 rs104894973
25 SRY p.Pro131Arg VAR_017304
26 SRY p.Ser3Leu VAR_030019
27 SRY p.Arg75Met VAR_078433

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

6
(show top 50) (show all 56)
# Gene Variation Type Significance SNP ID Assembly Location
1 SRY NM_003140.2(SRY): c.364_367delGAGA (p.Glu122Asnfs) deletion Pathogenic rs606231178 GRCh38 Chromosome Y, 2787237: 2787240
2 SRY NM_003140.2(SRY): c.364_367delGAGA (p.Glu122Asnfs) deletion Pathogenic rs606231178 GRCh37 Chromosome Y, 2655278: 2655281
3 SRY NM_003140.2(SRY): c.326T> C (p.Phe109Ser) single nucleotide variant Pathogenic rs104894956 GRCh37 Chromosome Y, 2655319: 2655319
4 SRY NM_003140.2(SRY): c.326T> C (p.Phe109Ser) single nucleotide variant Pathogenic rs104894956 GRCh38 Chromosome Y, 2787278: 2787278
5 SRY NM_003140.2(SRY): c.178G> C (p.Val60Leu) single nucleotide variant Pathogenic rs104894957 GRCh37 Chromosome Y, 2655467: 2655467
6 SRY NM_003140.2(SRY): c.178G> C (p.Val60Leu) single nucleotide variant Pathogenic rs104894957 GRCh38 Chromosome Y, 2787426: 2787426
7 SRY NM_003140.2(SRY): c.277C> T (p.Gln93Ter) single nucleotide variant Pathogenic rs104894958 GRCh37 Chromosome Y, 2655368: 2655368
8 SRY NM_003140.2(SRY): c.277C> T (p.Gln93Ter) single nucleotide variant Pathogenic rs104894958 GRCh38 Chromosome Y, 2787327: 2787327
9 SRY NM_003140.2(SRY): c.270C> G (p.Ile90Met) single nucleotide variant Pathogenic rs104894959 GRCh37 Chromosome Y, 2655375: 2655375
10 SRY NM_003140.2(SRY): c.270C> G (p.Ile90Met) single nucleotide variant Pathogenic rs104894959 GRCh38 Chromosome Y, 2787334: 2787334
11 SRY NM_003140.2(SRY): c.317A> T (p.Lys106Ile) single nucleotide variant Pathogenic rs104894964 GRCh37 Chromosome Y, 2655328: 2655328
12 SRY NM_003140.2(SRY): c.317A> T (p.Lys106Ile) single nucleotide variant Pathogenic rs104894964 GRCh38 Chromosome Y, 2787287: 2787287
13 SRY NM_003140.2(SRY): c.324delA (p.Phe109Serfs) deletion Pathogenic rs606231179 GRCh38 Chromosome Y, 2787280: 2787280
14 SRY NM_003140.2(SRY): c.324delA (p.Phe109Serfs) deletion Pathogenic rs606231179 GRCh37 Chromosome Y, 2655321: 2655321
15 SRY NM_003140.2(SRY): c.337G> A (p.Ala113Thr) single nucleotide variant Pathogenic rs104894966 GRCh37 Chromosome Y, 2655308: 2655308
16 SRY NM_003140.2(SRY): c.337G> A (p.Ala113Thr) single nucleotide variant Pathogenic rs104894966 GRCh38 Chromosome Y, 2787267: 2787267
17 SRY NM_003140.2(SRY): c.320G> A (p.Trp107Ter) single nucleotide variant Pathogenic rs104894967 GRCh37 Chromosome Y, 2655325: 2655325
18 SRY NM_003140.2(SRY): c.320G> A (p.Trp107Ter) single nucleotide variant Pathogenic rs104894967 GRCh38 Chromosome Y, 2787284: 2787284
19 SRY NM_003140.2(SRY): c.203T> C (p.Ile68Thr) single nucleotide variant Pathogenic rs104894968 GRCh37 Chromosome Y, 2655442: 2655442
20 SRY NM_003140.2(SRY): c.203T> C (p.Ile68Thr) single nucleotide variant Pathogenic rs104894968 GRCh38 Chromosome Y, 2787401: 2787401
21 SRY NM_003140.2(SRY): c.192G> A (p.Met64Ile) single nucleotide variant Pathogenic rs104894969 GRCh37 Chromosome Y, 2655453: 2655453
22 SRY NM_003140.2(SRY): c.192G> A (p.Met64Ile) single nucleotide variant Pathogenic rs104894969 GRCh38 Chromosome Y, 2787412: 2787412
23 SRY NM_003140.2(SRY): c.209G> A (p.Trp70Ter) single nucleotide variant Pathogenic rs104894965 GRCh37 Chromosome Y, 2655436: 2655436
24 SRY NM_003140.2(SRY): c.209G> A (p.Trp70Ter) single nucleotide variant Pathogenic rs104894965 GRCh38 Chromosome Y, 2787395: 2787395
25 SRY NM_003140.2(SRY): c.274A> T (p.Lys92Ter) single nucleotide variant Pathogenic rs104894970 GRCh37 Chromosome Y, 2655371: 2655371
26 SRY NM_003140.2(SRY): c.274A> T (p.Lys92Ter) single nucleotide variant Pathogenic rs104894970 GRCh38 Chromosome Y, 2787330: 2787330
27 SRY NM_003140.2(SRY): c.283G> C (p.Gly95Arg) single nucleotide variant Pathogenic rs104894974 GRCh37 Chromosome Y, 2655362: 2655362
28 SRY NM_003140.2(SRY): c.283G> C (p.Gly95Arg) single nucleotide variant Pathogenic rs104894974 GRCh38 Chromosome Y, 2787321: 2787321
29 SRY NM_003140.2(SRY): c.12T> A (p.Tyr4Ter) single nucleotide variant Pathogenic rs104894975 GRCh37 Chromosome Y, 2655633: 2655633
30 SRY NM_003140.2(SRY): c.12T> A (p.Tyr4Ter) single nucleotide variant Pathogenic rs104894975 GRCh38 Chromosome Y, 2787592: 2787592
31 SRY NM_003140.2(SRY): c.397C> T (p.Arg133Trp) single nucleotide variant Pathogenic rs104894976 GRCh37 Chromosome Y, 2655248: 2655248
32 SRY NM_003140.2(SRY): c.397C> T (p.Arg133Trp) single nucleotide variant Pathogenic rs104894976 GRCh38 Chromosome Y, 2787207: 2787207
33 SRY NM_003140.2(SRY): c.4C> T (p.Gln2Ter) single nucleotide variant Pathogenic rs104894977 GRCh37 Chromosome Y, 2655641: 2655641
34 SRY NM_003140.2(SRY): c.4C> T (p.Gln2Ter) single nucleotide variant Pathogenic rs104894977 GRCh38 Chromosome Y, 2787600: 2787600
35 SRY NM_003140.2(SRY): c.53G> A (p.Ser18Asn) single nucleotide variant Pathogenic rs104894971 GRCh37 Chromosome Y, 2655592: 2655592
36 SRY NM_003140.2(SRY): c.53G> A (p.Ser18Asn) single nucleotide variant Pathogenic rs104894971 GRCh38 Chromosome Y, 2787551: 2787551
37 SRY NM_003140.2(SRY): c.284G> A (p.Gly95Glu) single nucleotide variant Pathogenic rs104894972 GRCh37 Chromosome Y, 2655361: 2655361
38 SRY NM_003140.2(SRY): c.284G> A (p.Gly95Glu) single nucleotide variant Pathogenic rs104894972 GRCh38 Chromosome Y, 2787320: 2787320
39 SRY NM_003140.2(SRY): c.380A> T (p.Tyr127Phe) single nucleotide variant Pathogenic rs104894973 GRCh37 Chromosome Y, 2655265: 2655265
40 SRY NM_003140.2(SRY): c.380A> T (p.Tyr127Phe) single nucleotide variant Pathogenic rs104894973 GRCh38 Chromosome Y, 2787224: 2787224
41 SRY NM_003140.2(SRY): c.227G> T (p.Arg76Leu) single nucleotide variant Likely pathogenic rs1057519627 GRCh38 Chromosome Y, 2787377: 2787377
42 SRY NM_003140.2(SRY): c.227G> T (p.Arg76Leu) single nucleotide variant Likely pathogenic rs1057519627 GRCh37 Chromosome Y, 2655418: 2655418
43 SRY NM_003140.2(SRY): c.331C> T (p.Gln111Ter) single nucleotide variant Pathogenic GRCh38 Chromosome Y, 2787273: 2787273
44 SRY NM_003140.2(SRY): c.331C> T (p.Gln111Ter) single nucleotide variant Pathogenic GRCh37 Chromosome Y, 2655314: 2655314
45 SRY NM_003140.2(SRY): c.380A> G (p.Tyr127Cys) single nucleotide variant Uncertain significance rs104894973 GRCh37 Chromosome Y, 2655265: 2655265
46 SRY NM_003140.2(SRY): c.380A> G (p.Tyr127Cys) single nucleotide variant Uncertain significance rs104894973 GRCh38 Chromosome Y, 2787224: 2787224
47 SRY NM_003140.2(SRY): c.264dup (p.Glu89Argfs) duplication Pathogenic GRCh37 Chromosome Y, 2655381: 2655381
48 SRY NM_003140.2(SRY): c.264dup (p.Glu89Argfs) duplication Pathogenic GRCh38 Chromosome Y, 2787340: 2787340
49 SRY NM_003140.2(SRY): c.266A> C (p.Glu89Ala) single nucleotide variant Uncertain significance GRCh37 Chromosome Y, 2655379: 2655379
50 SRY NM_003140.2(SRY): c.266A> C (p.Glu89Ala) single nucleotide variant Uncertain significance GRCh38 Chromosome Y, 2787338: 2787338

Expression for 46,xy Sex Reversal 1

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

Pathways for 46,xy Sex Reversal 1

GO Terms for 46,xy Sex Reversal 1

Sources for 46,xy Sex Reversal 1

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