GDXY
MCID: SWY002
MIFTS: 32

Swyer Syndrome (GDXY) malady

Summaries for Swyer Syndrome

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42NIH Rare Diseases, 21Genetics Home Reference, 63Wikipedia, 32MalaCards
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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: Swyer Syndrome, also known as gonadal dysgenesis, xy female type, is related to gonadal dysgenesis 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 ovary, uterus and testes, 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:63 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, 42NIH Rare Diseases, 44Novoseek, 22GTR, 46OMIM, 60UMLS
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Aliases & Descriptions:

swyer syndrome 42 21 44
gonadal dysgenesis, xy female type 42 21 46
46, xy pure gonadal dysgenesis 42 22
gonadal dysgenesis, 46,xy 21 60
46, xy complete gonadal dysgenesis 42
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 42
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 top 50)    (show all 51)
idRelated DiseaseScoreTop Affiliating Genes
1gonadal dysgenesis30.8SOX9, SRY
2gonadoblastoma30.4TSPY1, SRY
3campomelic dysplasia30.2SRY, SOX9
4amenorrhea30.0SRY, PRL
546,xy disorder of sex development and 46,xy complete gonadal dysgenesis10.7
6testicular gonadoblastoma10.5
7graves' disease10.5
8congenital adrenal insufficiency10.4
9nr5a1-related 46,xy dsd and 46,xy cgd10.3
10dhh-related 46,xy dsd and 46,xy cgd10.3
11nr0b1-related 46,xy dsd and 46,xy cgd10.3
12wnt4-related 46,xy dsd and 46,xy cgd10.3
13map3k1-related 46,xy dsd and 46,xy cgd10.3
14sry-related 46,xy dsd and 46,xy cgd10.3
1546xy sex reversal 310.3
1646xx sex reversal 310.3
17nephrocalcinosis10.2
1846xy sex reversal 110.2
1946 xy gonadal dysgenesis10.1
20androgen insensitivity syndrome10.0
21mixed gonadal dysgenesis10.0
22congenital diaphragmatic hernia10.0
23encephalitis10.0
24gonadal disease10.0
25hermaphroditism10.0
26hypertension10.0
27inflammatory bowel disease10.0
28ovarian cancer10.0
29image syndrome10.0
30anorchia10.0
3146xy sex reversal 610.0
32luteoma10.0SRY
33frasier syndrome10.0SRY
34pseudohermaphroditism10.0SRY
35hypogonadism10.0PRL
36hypopituitarism10.0PRL
37hypogonadotropism10.0PRL
38hypospadias10.0SRY
39diabetes insipidus10.0PRL
40dwarfism10.0SOX9
41growth hormone deficiency10.0PRL
42wilms tumor10.0SOX9, SRY
43dysgerminoma10.0TSPY1, SRY
44gynecomastia10.0SRY, PRL
45turner syndrome10.0SRY, TSPY1
46hepatocellular carcinoma10.0F8
47male infertility10.0TSPY1, SRY
48infertility10.0SRY, PRL
49prostate cancer10.0TSPY1, SRY
50acquired immunodeficiency syndrome10.0F8

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



Diseases related to swyer syndrome

Clinical Features for Swyer Syndrome

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Drugs & Therapeutics for Swyer Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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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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32MalaCards
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MalaCards organs/tissues related to Swyer Syndrome:

32
Ovary, Uterus, Testes

Animal Models for Swyer Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Swyer Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053898.1SRY, PRL, F8, SOX9

Publications for Swyer Syndrome

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Genetic Variations for Swyer Syndrome

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Expression for genes affiliated with Swyer Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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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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44Novoseek, 49PharmGKB, 28IUPHAR, 11DrugBank, 24HMDB, 59Tocris Bioscience
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Compounds related to Swyer Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1dexamethasone44 49 28 1112.8F8
2dmrt449.7SRY, SOX9
3silver449.5SRY, F8
4agarose449.4SRY, F8
5progestin449.1PRL, F8
6polyethylene glycol449.0PRL, F8
7dihydrotestosterone44 28 11 2411.9SRY, PRL
8testosterone44 59 11 2411.8SOX9, PRL, SRY
9estradiol44 11 2410.8F8, PRL, SRY
10steroid448.3SRY, PRL, F8, SOX9

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:20000209.5SRY, 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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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet