MCID: SWY002
MIFTS: 43

Swyer Syndrome malady

Categories: Rare diseases, Cardiovascular diseases, Reproductive diseases, Skin diseases, Endocrine diseases, Fetal diseases

Aliases & Classifications for Swyer Syndrome

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Sources:
23Genetics Home Reference, 45NIH Rare Diseases, 47Novoseek, 51Orphanet, 65UMLS, 66UMLS via Orphanet, 28ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for Swyer Syndrome:

Name: Swyer Syndrome 45 23 47 51 65
Gonadal Dysgenesis, Xy Female Type 45 23
46,xy Complete Gonadal Dysgenesis 23 51
Gonadal Dysgenesis, 46,xy 23 65
46,xy Cgd 23 51
46, Xy Complete Gonadal Dysgenesis 45
 
46, Xy Pure Gonadal Dysgenesis 45
Pure Gonadal Dysgenesis 46,xy 23
46,xy Pure Gonadal Dysgenesis 51
Xy Pure Gonadal Dysgenesis 23
46,xy Sex Reversal 23
46, Xy Cgd 45

Characteristics:

Orphanet epidemiological data:

51
swyer syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Adolescent,Adult; Age of death: normal life expectancy

Classifications:



External Ids:

Orphanet51 242
UMLS via Orphanet66 C2936694
ICD10 via Orphanet28 Q99.1
UMLS65 C2936694

Summaries for Swyer Syndrome

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NIH Rare Diseases:45 Swyer syndrome is a condition in which people with one x chromosome one y chromosome (normally present in males) have a female appearance. people with swyer syndrome are typically raised as females, have a female gender identity, have typical female external genitalia, and have a normal uterus and fallopian tubes. however in place of functional gonads (ovaries or testes), they have undeveloped, residual gonadal tissue called streak gonads. streak gonads often become cancerous, so they are usually surgically removed as early as possible. swyer syndrome may be caused by mutations in any of several genes. the inheritance pattern depends on the responsible gene. in addition to removal of streak gonads, treatment may include hormone replacement therapy from puberty onward. while women with swyer syndrome are infertile, they may become pregnant with the use of donated eggs. last updated: 11/16/2015

MalaCards based summary: Swyer Syndrome, also known as gonadal dysgenesis, xy female type, is related to 46 xy gonadal dysgenesis and 46,xy disorder of sex development and 46,xy complete gonadal dysgenesis, and has symptoms including abnormality of the testis, male pseudohermaphroditism and polycystic ovaries. An important gene associated with Swyer Syndrome is SOX9 (SRY-Box 9), and among its related pathways are Deactivation of the beta-catenin transactivating complex and Regulation of Androgen receptor activity. Affiliated tissues include ovary, testes and uterus, and related mouse phenotypes are endocrine/exocrine gland and reproductive system.

Genetics Home Reference:23 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 53)
idRelated DiseaseScoreTop Affiliating Genes
146 xy gonadal dysgenesis26.0DHH, DMRT1, MAP3K1, NR0B1, NR5A1, SOX9
246,xy disorder of sex development and 46,xy complete gonadal dysgenesis12.6
346xy sex reversal 611.9
446xy sex reversal 911.9
546xy sex reversal 311.9
646xy sex reversal 111.1
7sry-related 46,xy dsd and 46,xy cgd11.1
8muscular atrophy10.6PRL, SRY
9testicular spermatocytic seminoma10.6SRY, TSPY1
10choriocarcinoma of the testis10.6PRL, SRY
11nodular neuronal heterotopia10.5SOX9, SRY
12teratocarcinoma10.5SRY, TSPY1
13pseudohermaphroditism10.5SOX9, SRY
14hypogonadism10.5PRL, SRY
15atypical teratoid rhabdoid tumor10.4PRL, SRY
16anorectal atresia10.4NR5A1, SRY
17breast-ovarian cancer, familial, 210.4SOX9, SRY
18delayed sleep phase syndrome10.4SOX9, SRY
19nephrotic syndrome, type 410.4NR5A1, SRY
20gonadal dysgenesis10.3
21spinal and bulbar muscular atrophy of kennedy10.3NR5A1, SRY
22leiomyoma10.3PRL, SRY
23leptospirosis10.1NR5A1, PRL
24urinary schistosomiasis10.1NR5A1, PRL, SRY
2548,xxxy syndrome10.1NR5A1, SOX9, SRY
26short qt syndrome10.1NR5A1, SOX9, SRY
27meacham syndrome10.1NR5A1, SOX9, SRY
28gonadoblastoma10.1
2946 xx gonadal dysgenesis10.1DHH, SOX9, SRY
30disease of mental health10.0PRL, SRY
31anorchia10.0
32testicular regression syndrome10.0
33cervical alveolar soft part sarcoma9.9DMRT1, TSPY1
34encephalitis9.9
35x-linked congenital stationary night blindness9.9NR0B1, NR5A1
36androgen insensitivity9.7
37amenorrhea9.7
38ovarian cancer9.7
39hermaphroditism9.7
40congenital diaphragmatic hernia9.7
41seminoma9.7
42complete androgen insensitivity syndrome9.7
43malignant germ cell tumor9.7
4446,xy partial gonadal dysgenesis9.7
45basal cell carcinoma 79.7NR0B1, NR5A1
46mixed gonadal dysgenesis9.6DHH, NR0B1, SRY
47acute myocarditis9.5NR0B1, NR5A1
48hidradenitis suppurativa9.4NR0B1, NR5A1, PRL, SRY
49alternating hemiplegia of childhood9.3NR0B1, NR5A1, SOX9, SRY
50hyperbiliverdinemia9.3NR0B1, NR5A1, SOX9, SRY

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:

 51
  • 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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Interventional clinical trials:

Search ClinicalTrials, 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:

33
Ovary, Testes, Uterus, Testis, Thyroid, Skin, Prostate

Animal Models for Swyer Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Swyer Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053797.8CBX2, DHH, DMRT1, NR0B1, NR5A1, PRL
2MP:00053897.3CBX2, DHH, DMRT1, F8, NR0B1, NR5A1

Publications for Swyer Syndrome

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Articles related to Swyer Syndrome:

(show all 50)
idTitleAuthorsYear
1
Mixed Germ Cell Tumour in a Case of Pure Gonadal Dysgenesis (Swyer Syndrome) - A Case Report. (26918227)
2016
2
A case of swyer syndrome associated with advanced gonadal dysgerminoma involving long survival. (25960730)
2015
3
A germ cell tumor in a patient with Swyer syndrome with ambiguous genitalia. (26643315)
2015
4
The laparoscopic management of Swyer syndrome: Case series. (26692777)
2015
5
Incidental gonadal tumors at the time of gonadectomy in women with swyer syndrome: a case series. (25532682)
2015
6
Anti-Ma-associated encephalitis due to dysgerminoma in a woman with Swyer syndrome. (24711536)
2014
7
Swyer Syndrome With Seminoma: Laparoscopic Bilateral Gonad Resection. (25460519)
2014
8
Pure gonadal dysgenesis (Swyer syndrome) due to microdeletion in the SRY gene: a case report. (25153220)
2014
9
Swyer syndrome. (25314337)
2014
10
Familial Swyer syndrome in two sisters with undeveloped uterus. (24832210)
2014
11
Dysgerminoma on a gonadoblastoma in a patient with Swyer syndrome treated with single incision laparoscopic surgery. (24960113)
2014
12
Anti-Ma-associated encephalitis due to dysgerminoma in a woman with Swyer syndrome. (23486885)
2013
13
Differentiating Swyer Syndrome and Complete Androgen Insensitivity Syndrome: A Diagnostic Dilemma. (24119655)
2013
14
Swyer syndrome in a woman with pure 46, XY gonadal dysgenesis and a hypoplastic uterus. (25606286)
2013
15
Bilateral dysgerminoma in a patient with a previous diagnosis of Swyer syndrome. (22176344)
2012
16
Swyer syndrome : a case report with literature review. (23478733)
2012
17
Pregnancy in patient with Swyer syndrome. (21195397)
2011
18
Complete gonadal dysgenesis 46,XY (Swyer syndrome) in two sisters and their mother's maternal aunt with a female phenotype. (21145048)
2011
19
Malignant germ cell tumors associated with Swyer syndrome. (21225934)
2011
20
Swyer syndrome, 46,XY gonadal dysgenesis, a sex reversal disorder with dysgerminoma: a case report and literature review. (22268289)
2011
21
Dysgerminoma in a case of 46, XY pure gonadal dysgenesis (Swyer syndrome): a case report. (21929773)
2011
22
Successful pregnancy in a Swyer syndrome patient with preexisting hypertension. (21782051)
2011
23
Swyer syndrome in a woman with pure 46,XY gonadal dysgenesis and a hypoplastic uterus: a rare presentation. (19914618)
2010
24
Bilateral gonadoblastomas with unilateral dysgerminoma in a case of 46 XY pure gonadal dysgenesis (Swyer syndrome). (20551568)
2010
25
Hypoplastic uterus and clitoris enlargement in Swyer syndrome. (19643642)
2010
26
Identification of a new mutation in the SRY gene in a 46,XY woman with Swyer syndrome. (18990383)
2009
27
Medical image. A prepubescent mass. Swyer syndrome with a bilateral dysgerminoma. (18392069)
2008
28
Swyer syndrome: presentation and outcomes. (18410658)
2008
29
Pure 46,XY gonadal dysgenesis (Swyer syndrome) with breast development and secondary amenorrhea. (18645253)
2008
30
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
31
Tumors of dysgenetic gonads in Swyer syndrome. (17923202)
2007
32
Dysgerminoma in three patients with Swyer syndrome. (17587461)
2007
33
Swyer syndrome with SRY + Y chromosome and rudimentary internal genitalia demonstrating temporary action of antimA1llerian hormone in utero: a case report. (16846094)
2006
34
Haemophilia A in a female caused by coincidence of a Swyer syndrome and a missense mutation in factor VIII gene. (16601852)
2006
35
Multiple different ovarian cancer histotypes in a patient affected by Swyer syndrome. (16677695)
2006
36
46,XY sex-reversal (Swyer syndrome) and congenital diaphragmatic hernia. (15389702)
2004
37
Description and molecular analysis of SRY and AR genes in a patient with 46,XY pure gonadal dysgenesis (Swyer syndrome). (15183752)
2004
38
Familial ovarian dysgerminomas (Swyer syndrome) in females associated with 46 XY-karyotype. (12012620)
2002
39
Swyer syndrome and 46,XY partial gonadal dysgenesis associated with 9p deletions in the absence of monosomy-9p syndrome. (9718353)
1998
40
A novel double nucleotide substitution in the HMG box of the SRY gene associated with Swyer syndrome. (9341876)
1997
41
Swyer syndrome: an unusual presentation. (7649326)
1995
42
Intestinal invasion by a dysgerminoma in a patient with Swyer syndrome. (1495740)
1992
43
Laparoscopic removal of dysgenetic gonads containing a gonadoblastoma in a patient with Swyer syndrome. (1533025)
1992
44
The presence of the testicular determining sequence, SRY, in 46,XY females with gonadal dysgenesis (Swyer syndrome). (1750489)
1991
45
Investigation of the ZFY gene in XX true hermaphroditism and Swyer syndrome. (2358305)
1990
46
Genetic heterogeneity of XY gonadal dysgenesis (Swyer syndrome): H-Y antigen-negative XY gonadal dysgenesis associated with inflammatory bowel disease. (7246614)
1981
47
Swyer syndrome with gonadoblastoma. (6111501)
1981
48
H-Y antigen in Swyer syndrome and the genetics of XY gonadal dysgenesis. (535902)
1979
49
50

Variations for Swyer Syndrome

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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 pathwaysScoreTop Affiliating Genes
19.8SOX9, SRY
29.6NR0B1, SRY

GO Terms for genes affiliated with Swyer Syndrome

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1Sertoli cell differentiationGO:006000810.3DMRT1, SOX9
2male gonad developmentGO:000858410.2DMRT1, SOX9
3sex determinationGO:000753010.1NR0B1, SRY
4intracellular receptor signaling pathwayGO:003052210.0NR0B1, NR5A1
5male sex determinationGO:00302389.8NR0B1, SOX9, SRY
6sex differentiationGO:00075489.8DMRT1, TSPY1
7spermatogenesisGO:00072839.1NR0B1, SOX9, TSPY1
8cell differentiationGO:00301548.7CBX2, NR0B1, NR5A1, SOX9, SRY
9negative regulation of transcription from RNA polymerase II promoterGO:00001228.5CBX2, DMRT1, NR0B1, SOX9

Sources for Swyer Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet