GDXY
MCID: SWY002
MIFTS: 40

Swyer Syndrome (GDXY) malady

Rare diseases category
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Summaries for Swyer Syndrome

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NIH Rare Diseases:42 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 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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Swyer Syndrome, Aliases & Descriptions:

Name: Swyer Syndrome 42 21 44
Gonadal Dysgenesis, Xy Female Type 42 21
46, Xy Pure Gonadal Dysgenesis 42 22
Xy Pure Gonadal Dysgenesis 21 62
Gonadal Dysgenesis, 46,xy 21 62
46, Xy Complete Gonadal Dysgenesis 42
 
46,xy Complete Gonadal Dysgenesis 21
Pure Gonadal Dysgenesis 46,xy 21
46,xy Sex Reversal 21
46, Xy Cgd 42
46,xy Cgd 21
Gdxy 21


Classifications:

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


Related Diseases for Swyer Syndrome

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

(show all 44)
idRelated DiseaseScoreTop Affiliating Genes
1gonadal dysgenesis31.2SRY, SOX9
2dysgerminoma31.0TSPY1, SRY
3campomelic dysplasia30.8SRY, SOX9
4gonadoblastoma30.8TSPY1, SRY
5amenorrhea30.3SRY, PRL
646,xy disorder of sex development and 46,xy complete gonadal dysgenesis10.7
7graves' disease10.5
8congenital adrenal insufficiency10.5
946xy sex reversal 2, dosage-sensitive10.5
1046xx sex reversal 110.4SRY
11mental retardation10.4
12frasier syndrome10.4SRY
1346,xy sex reversal 910.4
14nr5a1-related 46,xy dsd and 46,xy cgd10.4
15dhh-related 46,xy dsd and 46,xy cgd10.4
16nr0b1-related 46,xy dsd and 46,xy cgd10.4
17wnt4-related 46,xy dsd and 46,xy cgd10.4
18map3k1-related 46,xy dsd and 46,xy cgd10.4
19sry-related 46,xy dsd and 46,xy cgd10.4
20mixed gonadal dysgenesis10.3
21turner syndrome10.3TSPY1
2246 xy gonadal dysgenesis10.2
23nephrocalcinosis10.2
2446xy sex reversal 110.2
25encephalitis10.2
2646xy sex reversal 710.2
27gynecomastia10.1PRL, SRY
28short stature10.1SRY, PRL
29hypertension10.1
30androgen insensitivity syndrome10.1
31congenital diaphragmatic hernia10.1
32hermaphroditism10.1
33ovarian cancer10.1
34anorchia10.1
35complete androgen insensitivity syndrome10.1
36germ cell tumors10.1
37inflammatory bowel disease10.1
38wilms tumor10.0SOX9, SRY
39male infertility10.0TSPY1, PRL
40infertility10.0PRL, SRY
41azoospermia9.9SRY, PRL, TSPY1
42hypothyroidism9.9F8, PRL
43systemic lupus erythematosus9.9F8, PRL
44pre-eclampsia9.8F8, 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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Drug clinical trials:

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Search NIH Clinical Center for Swyer Syndrome

Genetic Tests for Swyer Syndrome

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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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MalaCards organs/tissues related to Swyer Syndrome:

32
Uterus, Ovary, Testes, Breast

Animal Models for Swyer Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Swyer Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053799.0SRY, PRL, SOX9
2MP:00053897.9F8, SRY, PRL, SOX9

Publications for Swyer Syndrome

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Articles related to Swyer Syndrome:

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

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Pathways for genes affiliated with Swyer Syndrome

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Compounds for genes affiliated with Swyer Syndrome

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Compounds related to Swyer Syndrome according to GeneCards/GeneDecks:

(show all 14)
idCompoundScoreTop Affiliating Genes
1dmrt449.8SRY, SOX9
2dihydrotestosterone44 28 24 1112.6SRY, PRL
3silver449.4F8, SRY
4ribonucleic acid449.3PRL, SOX9
5progestin449.3PRL, F8
6polyethylene glycol449.3F8, PRL
7agarose449.3F8, SRY
8testosterone44 61 24 1112.2SOX9, PRL, SRY
9epinephrine44 24 1111.1PRL, F8
10estradiol44 24 1110.9F8, SRY, PRL
11norepinephrine44 24 1110.8F8, PRL
12dexamethasone44 50 28 1111.8F8, PRL, SOX9
13serine448.7F8, SRY, SOX9
14steroid448.4SOX9, PRL, SRY, F8

GO Terms for genes affiliated with Swyer Syndrome

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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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet