GDXY
MCID: SWY002
MIFTS: 40

Swyer Syndrome (GDXY) malady

Rare diseases category
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Summaries for Swyer Syndrome

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Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 65Wikipedia, 33MalaCards
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NIH Rare Diseases:43 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: Swyer Syndrome, also known as gonadal dysgenesis, xy female type, is related to gonadal dysgenesis and dysgerminoma. An important gene associated with Swyer Syndrome is SRY (sex determining region Y). The compounds dmrt and dihydrotestosterone have been mentioned in the context of this disorder. Affiliated tissues include uterus, ovary and testes, and related mouse phenotypes are endocrine/exocrine gland and reproductive system.

Genetics Home Reference:21 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. People with this disorder 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 removed surgically early in life.

Wikipedia:65 Swyer syndrome, or XY gonadal dysgenesis, is a type of hypogonadism in a person whose karyotype is... more...

Aliases & Classifications for Swyer Syndrome

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21Genetics Home Reference, 43NIH Rare Diseases, 45Novoseek, 22GTR, 47OMIM, 62UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases


Aliases & Descriptions:

swyer syndrome 43 21 45
gonadal dysgenesis, xy female type 43 21 47
46, xy pure gonadal dysgenesis 43 22
gonadal dysgenesis, 46,xy 21 62
46, xy complete gonadal dysgenesis 43
46,xy complete gonadal dysgenesis 21
pure gonadal dysgenesis 46,xy 21
xy pure gonadal dysgenesis 21
46,xy sex reversal 21
46, xy cgd 43
46,xy cgd 21
gdxy 21


Related Diseases for Swyer Syndrome

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17GeneCards, 18GeneDecks
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Diseases related to Swyer Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 45)
idRelated DiseaseScoreTop Affiliating Genes
1gonadal dysgenesis30.9SOX9, SRY
2dysgerminoma30.8SRY, TSPY1
3gonadoblastoma30.5TSPY1, SRY
4campomelic dysplasia30.4SRY, SOX9
5amenorrhea30.1SRY, PRL
646,xy disorder of sex development and 46,xy complete gonadal dysgenesis10.7
7graves' disease10.5
8congenital adrenal insufficiency10.5
9mental retardation10.4
10nr5a1-related 46,xy dsd and 46,xy cgd10.4
11dhh-related 46,xy dsd and 46,xy cgd10.4
12nr0b1-related 46,xy dsd and 46,xy cgd10.4
13wnt4-related 46,xy dsd and 46,xy cgd10.4
14map3k1-related 46,xy dsd and 46,xy cgd10.4
15sry-related 46,xy dsd and 46,xy cgd10.4
16mixed gonadal dysgenesis10.3
1746xy sex reversal 310.3
1846xx sex reversal 310.3
19nephrocalcinosis10.2
2046 xy gonadal dysgenesis10.2
2146xy sex reversal 110.2
2246xx sex reversal 110.1SRY
23frasier syndrome10.1SRY
24turner syndrome10.1TSPY1
25androgen insensitivity syndrome10.0
26congenital diaphragmatic hernia10.0
27encephalitis10.0
28hermaphroditism10.0
29hypertension10.0
30inflammatory bowel disease10.0
31ovarian cancer10.0
32anorchia10.0
33complete androgen insensitivity syndrome10.0
34malignant germ cell tumor10.0
35germ cell tumors10.0
3646xy sex reversal 610.0
37gynecomastia10.0PRL, SRY
38short stature10.0PRL, SRY
39wilms tumor10.0SRY, SOX9
40male infertility10.0PRL, TSPY1
41infertility10.0SRY, PRL
42azoospermia10.0SRY, PRL, TSPY1
43hypothyroidism10.0F8, PRL
44systemic lupus erythematosus10.0F8, PRL
45pre-eclampsia9.9F8, 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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Drugs & Therapeutics for Swyer Syndrome

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Swyer Syndrome

Search NIH Clinical Center for Swyer Syndrome

Genetic Tests for Swyer Syndrome

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22GTR
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Genetic tests related to Swyer Syndrome:

id Genetic test Affiliating Genes
1 Pure Gonadal Dysgenesis 46,xy22

Anatomical Context for Swyer Syndrome

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33MalaCards
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MalaCards organs/tissues related to Swyer Syndrome:

33
Uterus, Ovary, Testes, Breast

Animal Models for Swyer Syndrome or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Swyer Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053799.0SRY, PRL, SOX9
2MP:00053897.9F8, SRY, PRL, SOX9

Publications for Swyer Syndrome

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52PubMed
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Articles related to Swyer Syndrome:

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

Variations for Swyer Syndrome

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Expression for genes affiliated with Swyer Syndrome

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Swyer Syndrome

Search GEO for disease gene expression data for Swyer Syndrome.

Pathways for genes affiliated with Swyer Syndrome

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Compounds for genes affiliated with Swyer Syndrome

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45Novoseek, 29IUPHAR, 24HMDB, 11DrugBank, 61Tocris Bioscience, 51PharmGKB
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Compounds related to Swyer Syndrome according to GeneCards/GeneDecks:

(show all 14)
idCompoundScoreTop Affiliating Genes
1dmrt459.8SRY, SOX9
2dihydrotestosterone45 29 24 1112.6SRY, PRL
3silver459.4F8, SRY
4ribonucleic acid459.3PRL, SOX9
5progestin459.3PRL, F8
6polyethylene glycol459.3F8, PRL
7agarose459.3F8, SRY
8testosterone45 61 24 1112.2SOX9, PRL, SRY
9epinephrine45 24 1111.1PRL, F8
10estradiol45 24 1110.9F8, SRY, PRL
11norepinephrine45 24 1110.8F8, PRL
12dexamethasone45 51 29 1111.8F8, PRL, SOX9
13serine458.7F8, SRY, SOX9
14steroid458.4SOX9, PRL, SRY, F8

GO Terms for genes affiliated with Swyer Syndrome

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16Gene Ontology
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Biological processes related to Swyer Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1positive regulation of male gonad developmentGO:20000209.4SRY, SOX9
2nucleosome assemblyGO:0063349.3TSPY1, SOX9
3sex differentiationGO:0075489.1SRY, TSPY1

Molecular functions related to Swyer Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activityGO:0037059.5SRY, SOX9

Products for genes affiliated with Swyer Syndrome

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Sources for Swyer Syndrome

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet