GDXY
MCID: SWY002
MIFTS: 39

Swyer Syndrome (GDXY) malady

Summaries for Swyer Syndrome

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 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 dysgerminoma and gonadoblastoma. An important gene associated with Swyer Syndrome is SRY (sex determining region Y). The compounds dexamethasone and dmrt have been mentioned in the context of this disorder. Affiliated tissues include lung, breast and ovary, and related mouse phenotype 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:64 Swyer syndrome, or XY gonadal dysgenesis, is a type of hypogonadism in a person whose karyotype is... more...

Aliases & Classifications for Swyer Syndrome

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 45Novoseek, 22GTR, 47OMIM, 61UMLS
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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 61
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

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

(show top 50)    (show all 52)
idRelated DiseaseScoreTop Affiliating Genes
1dysgerminoma30.7TSPY1, SRY
2gonadoblastoma30.4TSPY1, SRY
3campomelic dysplasia30.3SRY, SOX9
4amenorrhea30.0PRL, SRY
546,xy disorder of sex development and 46,xy complete gonadal dysgenesis10.7
6testicular gonadoblastoma10.5
7graves' disease10.5
8congenital adrenal insufficiency10.4
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
1646xy sex reversal 310.3
1746xx sex reversal 310.3
18nephrocalcinosis10.2
1946 xy gonadal dysgenesis10.2
2046xy sex reversal 110.2
21n syndrome10.2
22androgen insensitivity syndrome10.0
23mixed gonadal dysgenesis10.0
24congenital diaphragmatic hernia10.0
25anorchia10.0
26complete androgen insensitivity syndrome10.0
27malignant germ cell tumor10.0
28mass syndrome10.0
29rud syndrome10.0
30image syndrome10.0
31germ cell tumors10.0
3246xy sex reversal 610.0
33luteoma10.0SRY
34frasier syndrome10.0SRY
35pseudohermaphroditism10.0SRY
36hypogonadism10.0PRL
37hypopituitarism10.0PRL
38hypogonadotropism10.0PRL
39hypospadias10.0SRY
40diabetes insipidus10.0PRL
41dwarfism10.0SOX9
42gonadal dysgenesis10.0SOX9, SRY
43growth hormone deficiency10.0PRL
44wilms tumor10.0SRY, SOX9
45gynecomastia10.0SRY, PRL
46turner syndrome10.0TSPY1, SRY
47hepatocellular carcinoma10.0F8
48male infertility10.0SRY, TSPY1
49infertility10.0SRY, PRL
50prostate cancer10.0SRY, TSPY1

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



Diseases related to swyer syndrome

Clinical Features for Swyer Syndrome

Drugs & Therapeutics for Swyer Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Swyer Syndrome

Drug clinical trials:

Search ClinicalTrials for Swyer Syndrome

Search NIH Clinical Center for Swyer Syndrome

Search CenterWatch for Swyer Syndrome

Genetic Tests for Swyer Syndrome

Sources:
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

Sources:
33MalaCards
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MalaCards organs/tissues related to Swyer Syndrome:

33
Lung, Breast, Ovary, Uterus

Animal Models for Swyer Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Swyer Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053898.1SRY, PRL, F8, SOX9

Publications for Swyer Syndrome

Sources:
51PubMed
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Articles related to Swyer Syndrome:

(show top 50)    (show all 103)
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
Mixed germ cell tumor of ovary and clitoromegaly in Swyer's syndrome: a case report. (22773216)
2012
4
Swyer syndrome : a case report with literature review. (23478733)
2012
5
Swyer-James syndrome diagnosed in a trauma patient. (19022604)
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
Swyer-James-MacLeod syndrome with ipsilateral herniation of hyperinflated hyperlucent lung. (22679043)
2011
8
Successful pregnancy in a Swyer syndrome patient with preexisting hypertension. (21782051)
2011
9
Swyer syndrome in a woman with pure 46,XY gonadal dysgenesis and a hypoplastic uterus: a rare presentation. (19914618)
2010
10
Bilateral gonadoblastomas with unilateral dysgerminoma in a case of 46 XY pure gonadal dysgenesis (Swyer syndrome). (20551568)
2010
11
Diagnostic role of magnetic resonance angiography in Swyer James syndrome: Case series of two cases. (20931037)
2010
12
Coronary artery bypass in a patient with Swyer-James syndrome due to pulmonary tuberculosis. (20382603)
2010
13
Swyer James syndrome: a case report. (20432792)
2010
14
Hypoplastic uterus and clitoris enlargement in Swyer syndrome. (19643642)
2010
15
Semi-invasive aspergillosis in an immunocompetent patient with Swyer-James-MacLeod Syndrome: a case report. (20500886)
2010
16
Medical image. A prepubescent mass. Swyer syndrome with a bilateral dysgerminoma. (18392069)
2008
17
Swyer-James Syndrome with finger clubbing after severe measles infection. (18533964)
2008
18
Haemophilia A in a female caused by coincidence of a Swyer syndrome and a missense mutation in factor VIII gene. (16601852)
2006
19
Findings of chest radiograph and spiral computed tomography in Swyer-James syndrome. (16615286)
2006
20
Multiple different ovarian cancer histotypes in a patient affected by Swyer syndrome. (16677695)
2006
21
Lung volume reduction surgery for a professional athlete with Swyer-James syndrome. (15975405)
2005
22
Swyer-James syndrome. (16184857)
2005
23
Swyer-James syndrome with myocardial bridge: a case report. (12957738)
2003
24
Clinical, physiologic, and roentgenographic changes after pneumonectomy in a boy with Macleod/Swyer-James syndrome and bronchiectasis. (12357493)
2002
25
Video-assisted thoracoscopic bullectomy for spontaneous pneumothorax in a Swyer-James syndrome patient. (12428385)
2002
26
Swyer-James syndrome. (11374630)
2001
27
Surgically treated Swyer-James syndrome. (11757341)
2001
28
50,XY gonadal dysgenesis (Swyer's syndrome) in a female river buffalo (Bubalus bubalis). (11394803)
2001
29
Swyer-James syndrome complicated by lung abscess. (10820960)
2000
30
Association of Turner's syndrome and Swyer's syndrome in the same family. (10803875)
2000
31
Unilateral absence of pulmonary perfusion in Swyer-James syndrome. (10478756)
1999
32
Swyer syndrome and 46,XY partial gonadal dysgenesis associated with 9p deletions in the absence of monosomy-9p syndrome. (9718353)
1998
33
Severe pulmonary hypertension: a feature of Swyer-James syndrome? (9203811)
1997
34
Swyer syndrome: an unusual presentation. (7649326)
1995
35
Swyer-James syndrome: bronchoalveolar lavage findings in two patients. (7664869)
1995
36
Swyer-James syndrome associated with Noonan syndrome: report of a case. (8541736)
1995
37
Echocardiographic findings in one case of Swyer-James syndrome. (2032413)
1991
38
Investigation of the ZFY gene in XX true hermaphroditism and Swyer syndrome. (2358305)
1990
39
Computed tomography findings in the Swyer-James syndrome. (2743192)
1989
40
CT findings in Swyer-James syndrome. (2748829)
1989
41
Asymmetrical pulmonary oedema due to Swyer-James syndrome. (3690155)
1987
42
Genetic heterogeneity of XY gonadal dysgenesis (Swyer syndrome): H-Y antigen-negative XY gonadal dysgenesis associated with inflammatory bowel disease. (7246614)
1981
43
H-Y antigen in Swyer syndrome and the genetics of XY gonadal dysgenesis. (535902)
1979
44
Clinical, pathologic, and genetic findings in a case of 46,XY pure gonadal dysgenesis (Swyer's syndrome). II. Presence of H-Y antigen. (851138)
1977
45
Clinical, pathologic, and genetic findings in a case of 46,XY pure gonadal dysgenesis (Swyer's syndrome). (851137)
1977
46
Unilateral pulmonary edema in Swyer-James syndrome. (4430215)
1974
47
Swyer-James syndrome. (4442941)
1974
48
Swyer-James syndrome. (Unilateral hyperlucent lung) in children. (4699899)
1973
49
Idiopathic unilateral hyperlucent lung. The Swyer-James syndrome. (5775060)
1969
50
Unilateral hyperlucent lung. (Swyer-Fames syndrome). (13990596)
1962

Genetic Variations for Swyer Syndrome

Expression for genes affiliated with Swyer Syndrome

Sources:
1BioGPS, 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

Compounds for genes affiliated with Swyer Syndrome

Sources:
45Novoseek, 50PharmGKB, 29IUPHAR, 11DrugBank, 24HMDB, 60Tocris Bioscience
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Compounds related to Swyer Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1dexamethasone45 50 29 1112.8F8
2dmrt459.7SOX9, SRY
3silver459.5SRY, F8
4agarose459.4F8, SRY
5progestin459.1F8, PRL
6polyethylene glycol459.0PRL, F8
7dihydrotestosterone45 29 11 2411.9PRL, SRY
8testosterone45 60 11 2411.8SOX9, PRL, SRY
9estradiol45 11 2410.8PRL, F8, SRY
10steroid458.3PRL, F8, SOX9, SRY

GO Terms for genes affiliated with Swyer Syndrome

Sources:
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:20000209.5SRY, SOX9
2nucleosome assemblyGO:0063349.4TSPY1, SOX9
3male gonad developmentGO:0085849.2SRY, SOX9
4positive regulation of epithelial cell proliferationGO:0506799.0PRL, SOX9

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

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet