MCID: SWY002
MIFTS: 46

Swyer Syndrome malady

Rare diseases, Cardiovascular diseases, Reproductive diseases, Skin diseases, Endocrine diseases, Fetal diseases categories

Aliases & Classifications for Swyer Syndrome

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Sources:
21Genetics Home Reference, 41NIH Rare Diseases, 43Novoseek, 47Orphanet, 60UMLS, 61UMLS via Orphanet
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Swyer Syndrome, Aliases & Descriptions:

Name: Swyer Syndrome 41 21 43 47 60
46,xy Complete Gonadal Dysgenesis 41 21 47
46,xy Cgd 41 21 47
Gonadal Dysgenesis, Xy Female Type 41 21
46,xy Pure Gonadal Dysgenesis 41 47
Gonadal Dysgenesis, 46,xy 21 60
46, Xy Complete Gonadal Dysgenesis 41
 
46, Xy Pure Gonadal Dysgenesis 41
Pure Gonadal Dysgenesis 46,xy 21
Xy Pure Gonadal Dysgenesis 21
46,xy Sex Reversal 21
46, Xy Cgd 41
Gdxy 21


Classifications:



Characteristics (Orphanet epidemiological data):

47
swyer syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Adolescent,Adult; Age of death: normal life expectancy


External Ids:

Orphanet47 242
UMLS via Orphanet61 C2936694

Summaries for Swyer Syndrome

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NIH Rare Diseases:41 Swyer syndrome is a condition in which individuals with one x chromosome and one y chromosome in each cell, the pattern normally found in males, have a female appearance. those with swyer syndrome are typically raised as females and have a female gender identity. people with this condition have female external genitalia and a normal uterus and fallopian tubes. however, they do not have functional gonads (ovaries or testes). instead, they have undeveloped clumps of tissue, called streak gonads. these abnormal gonads often become cancerous, so they are usually surgically removed early in life. the genes known to cause this condition include the dhh, nr0b1, nr5a1, and sry genes. swyer syndrome has different patterns of inheritance depending on the underlying cause. last updated: 6/10/2011

MalaCards based summary: Swyer Syndrome, also known as 46,xy complete gonadal dysgenesis, is related to dysgerminoma and 46xy sex reversal 3, and has symptoms including abnormality of the testis, male pseudohermaphroditism and polycystic ovaries. An important gene associated with Swyer Syndrome is SRY (sex determining region Y), and among its related pathways are Regulation of Androgen receptor activity and Nuclear Receptor transcription pathway. The compounds dhea and dehydroepiandrosterone sulfate have been mentioned in the context of this disorder. Affiliated tissues include ovary, testes and uterus, and related mouse phenotypes are mortality/aging and endocrine/exocrine gland.

Genetics Home Reference:21 Swyer syndrome is a condition that affects sexual development. Sexual development is usually determined by an individual's chromosomes; however, in Swyer syndrome, sexual development does not match the affected individual's chromosomal makeup.

Related Diseases for Swyer Syndrome

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Diseases related to Swyer Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 65)
idRelated DiseaseScoreTop Affiliating Genes
1dysgerminoma31.4TSPY1, SRY
246xy sex reversal 331.2NR5A1
3campomelic dysplasia31.2SRY, SOX9
4gonadoblastoma31.1SRY, TSPY1
546,xy disorder of sex development and 46,xy complete gonadal dysgenesis31.0DHH, SRY, NR5A1, NR0B1
646xy sex reversal 631.0MAP3K1
7amenorrhea30.6SRY, PRL
8gonadal dysgenesis30.2DMRT1, SOX9, DHH, SRY, NR5A1, NR0B1
9graves' disease10.5
1046xx sex reversal 110.5SRY
11frasier syndrome10.5SRY
1246,xy sex reversal 910.5
1346xy sex reversal 110.5
14nr5a1-related 46,xy dsd and 46,xy cgd10.5
15dhh-related 46,xy dsd and 46,xy cgd10.5
16nr0b1-related 46,xy dsd and 46,xy cgd10.5
17wnt4-related 46,xy dsd and 46,xy cgd10.5
18map3k1-related 46,xy dsd and 46,xy cgd10.5
19sry-related 46,xy dsd and 46,xy cgd10.5
20turner syndrome10.4TSPY1
21endometrial cancer10.4
22hypertrophic cardiomyopathy10.4
23choriocarcinoma10.4
24swyer-james syndrome10.4
25mental retardation10.4
2646xy sex reversal 710.4
27adrenal insufficiency, congenital, with 46xy sex reversal, partial or complete10.4
2846xy sex reversal 2, dosage-sensitive10.4
29congenital adrenal insufficiency10.4
30gynecomastia10.3PRL, SRY
31mixed gonadal dysgenesis10.3
32precocious puberty10.3PRL, NR0B1
33hypospadias10.3NR5A1, SRY
34adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism10.2NR5A1, NR0B1
3546xy sex reversal 810.2
3646xy sex reversal 510.2
37nephrocalcinosis10.2
38cryptorchidism10.2SRY, NR5A1
39encephalitis10.2
40kallmann syndrome10.2NR0B1, NR5A1
41leydig cell tumor10.2NR5A1, NR0B1
42addison's disease10.2NR0B1, NR5A1
43adrenocortical carcinoma10.1NR5A1, NR0B1
44infertility10.1NR5A1, SRY, PRL
45congenital adrenal hyperplasia10.1NR0B1, NR5A1, SRY
46male infertility10.1TSPY1, PRL
47adrenal cortical adenoma10.1NR0B1, NR5A1
48adrenoleukodystrophy10.1NR0B1, NR5A1
49prolactinoma10.1NR5A1, PRL
50klinefelter's syndrome10.1PRL, NR5A1, NR0B1

Graphical network of the top 20 diseases related to Swyer Syndrome:



Diseases related to swyer syndrome

Symptoms for Swyer Syndrome

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Symptoms:

 47
  • male pseudohermaphrodism/lack of virilisation
  • abnormal/polycystic ovaries
  • small/atrophic/hypoplastic testes/monorchism/microorchidism/anorchia
  • late puberty/hypogonadism/hypogenitalism
  • x-linked recessive inheritance

HPO human phenotypes related to Swyer Syndrome:

id Description Frequency HPO Source Accession
1 abnormality of the testis hallmark (90%) HP:0000035
2 male pseudohermaphroditism hallmark (90%) HP:0000037
3 polycystic ovaries hallmark (90%) HP:0000147

Drugs & Therapeutics for Swyer Syndrome

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Drug clinical trials:

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Search NIH Clinical Center for Swyer Syndrome

Genetic Tests for Swyer Syndrome

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Anatomical Context for Swyer Syndrome

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MalaCards organs/tissues related to Swyer Syndrome:

31
Ovary, Testes, Uterus, Skin, Testis, Breast

Animal Models for Swyer Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Swyer Syndrome:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107687.5SOX9, CBX2, SRY, F8, MAP3K1, NR5A1
2MP:00053797.3DMRT1, SOX9, CBX2, PRL, DHH, SRY
3MP:00053767.0SOX9, PRL, DHH, F8, MAP3K1, NR5A1
4MP:00053896.2NR0B1, DMRT1, DMRT2, SOX9, CBX2, PRL

Publications for Swyer Syndrome

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Articles related to Swyer Syndrome:

(show all 44)
idTitleAuthorsYear
1
Incidental gonadal tumors at the time of gonadectomy in women with swyer syndrome: a case series. (25532682)
2015
2
Anti-Ma-associated encephalitis due to dysgerminoma in a woman with Swyer syndrome. (24711536)
2014
3
Swyer Syndrome With Seminoma: Laparoscopic Bilateral Gonad Resection. (25460519)
2014
4
Pure gonadal dysgenesis (Swyer syndrome) due to microdeletion in the SRY gene: a case report. (25153220)
2014
5
Swyer syndrome. (25314337)
2014
6
Familial Swyer syndrome in two sisters with undeveloped uterus. (24832210)
2014
7
Dysgerminoma on a gonadoblastoma in a patient with Swyer syndrome treated with single incision laparoscopic surgery. (24960113)
2014
8
Anti-Ma-associated encephalitis due to dysgerminoma in a woman with Swyer syndrome. (23486885)
2013
9
Differentiating Swyer Syndrome and Complete Androgen Insensitivity Syndrome: A Diagnostic Dilemma. (24119655)
2013
10
Swyer syndrome in a woman with pure 46, XY gonadal dysgenesis and a hypoplastic uterus. (25606286)
2013
11
Bilateral dysgerminoma in a patient with a previous diagnosis of Swyer syndrome. (22176344)
2012
12
Swyer syndrome : a case report with literature review. (23478733)
2012
13
Pregnancy in patient with Swyer syndrome. (21195397)
2011
14
Complete gonadal dysgenesis 46,XY (Swyer syndrome) in two sisters and their mother's maternal aunt with a female phenotype. (21145048)
2011
15
Malignant germ cell tumors associated with Swyer syndrome. (21225934)
2011
16
Swyer syndrome, 46,XY gonadal dysgenesis, a sex reversal disorder with dysgerminoma: a case report and literature review. (22268289)
2011
17
Dysgerminoma in a case of 46, XY pure gonadal dysgenesis (Swyer syndrome): a case report. (21929773)
2011
18
Successful pregnancy in a Swyer syndrome patient with preexisting hypertension. (21782051)
2011
19
Swyer syndrome in a woman with pure 46,XY gonadal dysgenesis and a hypoplastic uterus: a rare presentation. (19914618)
2010
20
Bilateral gonadoblastomas with unilateral dysgerminoma in a case of 46 XY pure gonadal dysgenesis (Swyer syndrome). (20551568)
2010
21
Hypoplastic uterus and clitoris enlargement in Swyer syndrome. (19643642)
2010
22
Identification of a new mutation in the SRY gene in a 46,XY woman with Swyer syndrome. (18990383)
2009
23
Medical image. A prepubescent mass. Swyer syndrome with a bilateral dysgerminoma. (18392069)
2008
24
Swyer syndrome: presentation and outcomes. (18410658)
2008
25
Pure 46,XY gonadal dysgenesis (Swyer syndrome) with breast development and secondary amenorrhea. (18645253)
2008
26
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
27
Tumors of dysgenetic gonads in Swyer syndrome. (17923202)
2007
28
Dysgerminoma in three patients with Swyer syndrome. (17587461)
2007
29
Swyer syndrome with SRY + Y chromosome and rudimentary internal genitalia demonstrating temporary action of antimA1llerian hormone in utero: a case report. (16846094)
2006
30
Haemophilia A in a female caused by coincidence of a Swyer syndrome and a missense mutation in factor VIII gene. (16601852)
2006
31
Multiple different ovarian cancer histotypes in a patient affected by Swyer syndrome. (16677695)
2006
32
46,XY sex-reversal (Swyer syndrome) and congenital diaphragmatic hernia. (15389702)
2004
33
Description and molecular analysis of SRY and AR genes in a patient with 46,XY pure gonadal dysgenesis (Swyer syndrome). (15183752)
2004
34
Familial ovarian dysgerminomas (Swyer syndrome) in females associated with 46 XY-karyotype. (12012620)
2002
35
Swyer syndrome and 46,XY partial gonadal dysgenesis associated with 9p deletions in the absence of monosomy-9p syndrome. (9718353)
1998
36
A novel double nucleotide substitution in the HMG box of the SRY gene associated with Swyer syndrome. (9341876)
1997
37
Swyer syndrome: an unusual presentation. (7649326)
1995
38
Intestinal invasion by a dysgerminoma in a patient with Swyer syndrome. (1495740)
1992
39
Laparoscopic removal of dysgenetic gonads containing a gonadoblastoma in a patient with Swyer syndrome. (1533025)
1992
40
The presence of the testicular determining sequence, SRY, in 46,XY females with gonadal dysgenesis (Swyer syndrome). (1750489)
1991
41
Investigation of the ZFY gene in XX true hermaphroditism and Swyer syndrome. (2358305)
1990
42
Genetic heterogeneity of XY gonadal dysgenesis (Swyer syndrome): H-Y antigen-negative XY gonadal dysgenesis associated with inflammatory bowel disease. (7246614)
1981
43
Swyer syndrome with gonadoblastoma. (6111501)
1981
44
H-Y antigen in Swyer syndrome and the genetics of XY gonadal dysgenesis. (535902)
1979

Variations for Swyer Syndrome

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Clinvar genetic disease variations for Swyer Syndrome:

6 (show all 22)
id Gene Variation Type Significance SNP ID Assembly Location
1CBX2NM_005189.2(CBX2): c.293C> T (p.Pro98Leu)single nucleotide variantPathogenicrs121908255GRCh37Chr 17, 77757535: 77757535
2CBX2NM_005189.2(CBX2): c.1328G> C (p.Arg443Pro)single nucleotide variantPathogenicrs121908256GRCh37Chr 17, 77758570: 77758570
3SRYSRY, 4-BP DEL, NT773deletionPathogenic
4SRYNM_003140.2(SRY): c.326T> C (p.Phe109Ser)single nucleotide variantPathogenicrs104894956GRCh37Chr Y, 2655319: 2655319
5SRYNM_003140.2(SRY): c.178G> C (p.Val60Leu)single nucleotide variantPathogenicrs104894957GRCh37Chr Y, 2655467: 2655467
6SRYNM_003140.2(SRY): c.277C> T (p.Gln93Ter)single nucleotide variantPathogenicrs104894958GRCh37Chr Y, 2655368: 2655368
7SRYNM_003140.2(SRY): c.270C> G (p.Ile90Met)single nucleotide variantPathogenicrs104894959GRCh37Chr Y, 2655375: 2655375
8SRYNM_003140.2(SRY): c.317A> T (p.Lys106Ile)single nucleotide variantPathogenicrs104894964GRCh37Chr Y, 2655328: 2655328
9SRYSRY, 1-BP DEL, 734AdeletionPathogenic
10SRYNM_003140.2(SRY): c.337G> A (p.Ala113Thr)single nucleotide variantPathogenicrs104894966GRCh37Chr Y, 2655308: 2655308
11SRYNM_003140.2(SRY): c.320G> A (p.Trp107Ter)single nucleotide variantPathogenicrs104894967GRCh37Chr Y, 2655325: 2655325
12SRYNM_003140.2(SRY): c.203T> C (p.Ile68Thr)single nucleotide variantPathogenicrs104894968GRCh37Chr Y, 2655442: 2655442
13SRYNM_003140.2(SRY): c.192G> A (p.Met64Ile)single nucleotide variantPathogenicrs104894969GRCh37Chr Y, 2655453: 2655453
14SRYNM_003140.2(SRY): c.209G> A (p.Trp70Ter)single nucleotide variantPathogenicrs104894965GRCh37Chr Y, 2655436: 2655436
15SRYNM_003140.2(SRY): c.274A> T (p.Lys92Ter)single nucleotide variantPathogenicrs104894970GRCh37Chr Y, 2655371: 2655371
16SRYNM_003140.2(SRY): c.283G> C (p.Gly95Arg)single nucleotide variantPathogenicrs104894974GRCh37Chr Y, 2655362: 2655362
17SRYNM_003140.2(SRY): c.12T> A (p.Tyr4Ter)single nucleotide variantPathogenicrs104894975GRCh37Chr Y, 2655633: 2655633
18SRYNM_003140.2(SRY): c.397C> T (p.Arg133Trp)single nucleotide variantPathogenicrs104894976GRCh37Chr Y, 2655248: 2655248
19SRYNM_003140.2(SRY): c.4C> T (p.Gln2Ter)single nucleotide variantPathogenicrs104894977GRCh37Chr Y, 2655641: 2655641
20SRYNM_003140.2(SRY): c.53G> A (p.Ser18Asn)single nucleotide variantPathogenicrs104894971GRCh37Chr Y, 2655592: 2655592
21SRYNM_003140.2(SRY): c.284G> A (p.Gly95Glu)single nucleotide variantPathogenicrs104894972GRCh37Chr Y, 2655361: 2655361
22SRYNM_003140.2(SRY): c.380A> T (p.Tyr127Phe)single nucleotide variantPathogenicrs104894973GRCh37Chr Y, 2655265: 2655265

Expression for genes affiliated with Swyer Syndrome

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Search GEO for disease gene expression data for Swyer Syndrome.

Pathways for genes affiliated with Swyer Syndrome

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Pathways related to Swyer Syndrome according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9NR0B1, SRY
2
Show member pathways
Nuclear Receptors36
9.9NR0B1, NR5A1

Compounds for genes affiliated with Swyer Syndrome

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Compounds related to Swyer Syndrome according to GeneCards Suite gene sharing:

(show all 17)
idCompoundScoreTop Affiliating Genes
1dhea439.6NR5A1, PRL
2dehydroepiandrosterone sulfate439.5NR5A1, PRL
3acth439.4PRL, NR5A1, NR0B1
4gnrh439.3NR0B1, NR5A1, MAP3K1, PRL
5ribonucleic acid439.2NR5A1, PRL, SOX9
6cyclic amp43 2410.2SOX9, MAP3K1, NR5A1, NR0B1
7dmrt438.9NR0B1, NR5A1, SRY, SOX9, DMRT1
8zinc43 249.8NR0B1, NR5A1, SRY, SOX9, DMRT1
9estradiol43 24 1210.8PRL, SRY, F8, NR5A1
10leucine438.7SRY, F8, MAP3K1, NR5A1, NR0B1
11progesterone43 28 59 24 1212.7NR0B1, NR5A1, F8, PRL
12testosterone43 59 24 1211.5SOX9, PRL, SRY, MAP3K1, NR5A1, NR0B1
13cysteine438.4SRY, F8, MAP3K1, NR0B1
14estrogen438.4NR0B1, NR5A1, MAP3K1, F8, PRL
15dexamethasone43 49 28 1211.2SOX9, PRL, F8, MAP3K1, NR0B1
16serine438.2SOX9, SRY, F8, MAP3K1, NR5A1
17steroid438.0SOX9, PRL, SRY, F8, NR5A1, NR0B1

GO Terms for genes affiliated with Swyer Syndrome

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Cellular components related to Swyer Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1nucleusGO:00056347.3NR0B1, NR5A1, SRY, TSPY1, CBX2, SOX9

Biological processes related to Swyer Syndrome according to GeneCards Suite gene sharing:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1regulation of steroid biosynthetic processGO:005081010.0DHH, NR5A1
2Leydig cell differentiationGO:00333279.9DHH, NR0B1
3sex determinationGO:00075309.8DMRT1, DMRT2
4adrenal gland developmentGO:00303259.8NR0B1, NR5A1
5Sertoli cell developmentGO:00600099.6SOX9, DMRT1
6cellular response to mechanical stimulusGO:00712609.6MAP3K1, SOX9
7sex differentiationGO:00075489.6SRY, TSPY1
8intracellular receptor signaling pathwayGO:00305229.6NR0B1, NR5A1
9Sertoli cell differentiationGO:00600089.4NR0B1, SOX9, DMRT1
10male sex determinationGO:00302389.3DMRT1, DHH, SRY, NR0B1
11positive regulation of male gonad developmentGO:020000209.2NR5A1, SRY, SOX9, DMRT1
12cell differentiationGO:00301549.1NR5A1, SRY, TSPY1, CBX2
13spermatogenesisGO:00072838.8DMRT1, SOX9, TSPY1, NR0B1
14male gonad developmentGO:00085848.7DMRT1, DMRT2, SOX9, NR5A1, NR0B1

Molecular functions related to Swyer Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activityGO:00048799.8NR5A1, NR0B1
2steroid hormone receptor activityGO:00037079.6NR5A1, NR0B1
3RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activityGO:00037059.4NR5A1, SRY, SOX9
4chromatin bindingGO:00036829.4SOX9, CBX2, NR5A1
5protein bindingGO:00055156.4SOX9, NR0B1, MAP3K1, F8, DHH, PRL

Products for genes affiliated with Swyer Syndrome

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Sources for Swyer Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet