MCID: 46X003
MIFTS: 26

46,xx Testicular Disorder of Sex Development malady

Genetic diseases, Rare diseases, Reproductive diseases categories
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Summaries for 46,xx Testicular Disorder of Sex Development

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21Genetics Home Reference, 19GeneReviews, 33MalaCards
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Genetics Home Reference:21 46,XX testicular disorder of sex development is a condition in which individuals with two X chromosomes in each cell, the pattern normally found in females, have a male appearance. People with this disorder have male external genitalia. They generally have small testes and may also have abnormalities such as undescended testes (cryptorchidism) or the urethra opening on the underside of the penis (hypospadias). A small number of affected people have external genitalia that do not look clearly male or clearly female (ambiguous genitalia). Affected children are typically raised as males and have a male gender identity.

MalaCards: 46,xx Testicular Disorder of Sex Development, also known as xx male syndrome, is related to gonadal dysgenesis and sry-negative 46,xx testicular disorder of sex development. An important gene associated with 46,xx Testicular Disorder of Sex Development is SRY (sex determining region Y). The compounds serine and Guanosine triphosphate have been mentioned in the context of this disorder.

GeneReviews summary for xxms

Aliases & Classifications for 46,xx Testicular Disorder of Sex Development

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Sources:
62UMLS, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Reproductive diseases


Aliases & Descriptions:

46,xx testicular disorder of sex development 19 43 20 22 21
xx male syndrome 19 43 21
46,xx testicular dsd 19 43
xx sex reversal 43 21
46, xx gonadal sex reversal 43
46,xx gonadal dysgenesis 43
klinefelter syndrome 62
46,xx sex reversal 21


Related Diseases for 46,xx Testicular Disorder of Sex Development

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to 46,xx Testicular Disorder of Sex Development:



Diseases related to 46,xx testicular disorder of sex development

Symptoms for 46,xx Testicular Disorder of Sex Development

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Drugs & Therapeutics for 46,xx Testicular Disorder of Sex Development

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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Genetic Tests for 46,xx Testicular Disorder of Sex Development

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20GeneTests, 22GTR
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Genetic tests related to 46,xx Testicular Disorder of Sex Development:

id Genetic test Affiliating Genes
1 46,xx Testicular Disorder of Sex Development20 22 SRY

Anatomical Context for 46,xx Testicular Disorder of Sex Development

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Animal Models for 46,xx Testicular Disorder of Sex Development or affiliated genes

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Publications for 46,xx Testicular Disorder of Sex Development

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52PubMed
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Articles related to 46,xx Testicular Disorder of Sex Development:

idTitleAuthorsYear
1
Gene expression profile during testicular development in patients With SRY-negative 46,XX testicular disorder of sex development. (24149105)
2013
2
Two males with SRY-positive 46,XX testicular disorder of sex development. (23110663)
2013
3
De novo 12;17 translocation upstream of SOX9 resulting in 46,XX testicular disorder of sex development. (20082466)
2010
4
46,XX Testicular Disorder of Sex Development (20301589)
1993

Variations for 46,xx Testicular Disorder of Sex Development

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Expression for genes affiliated with 46,xx Testicular Disorder of Sex Development

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with 46,xx Testicular Disorder of Sex Development

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Pathways for genes affiliated with 46,xx Testicular Disorder of Sex Development

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Compounds for genes affiliated with 46,xx Testicular Disorder of Sex Development

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45Novoseek, 24HMDB
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Compounds related to 46,xx Testicular Disorder of Sex Development according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1serine459.1ROCK1, SRY
2Guanosine triphosphate248.8ROCK1, SRY

GO Terms for genes affiliated with 46,xx Testicular Disorder of Sex Development

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Products for genes affiliated with 46,xx Testicular Disorder of Sex Development

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  • Antibodies
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Sources for 46,xx Testicular Disorder of Sex Development

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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