MCID: 46X003
MIFTS: 28

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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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 based summary: 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. Affiliated tissues include testes.

GeneReviews summary for xxms

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

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46,xx Testicular Disorder of Sex Development, Aliases & Descriptions:

Name: 46,xx Testicular Disorder of Sex Development 19 42 20 22 21
Xx Male Syndrome 19 42 21
Xx Sex Reversal 42 21 62
46,xx Testicular Dsd 19 42
 
46, Xx Gonadal Sex Reversal 42
46,xx Gonadal Dysgenesis 42
Klinefelter Syndrome 62
46,xx Sex Reversal 21


Classifications:

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


Related Diseases for 46,xx Testicular Disorder of Sex Development

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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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Drug clinical trials:

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Genetic Tests for 46,xx Testicular Disorder of Sex Development

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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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MalaCards organs/tissues related to 46,xx Testicular Disorder of Sex Development:

32
Testes

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

idTitleAuthorsYear
1
A Korean boy with 46,XX testicular disorder of sex development caused by SOX9 duplication. (25077096)
2014
2
Gene expression profile during testicular development in patients With SRY-negative 46,XX testicular disorder of sex development. (24149105)
2013
3
Two males with SRY-positive 46,XX testicular disorder of sex development. (23110663)
2013
4
De novo 12;17 translocation upstream of SOX9 resulting in 46,XX testicular disorder of sex development. (20082466)
2010
5
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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Expression patterns in normal tissues for genes affiliated with 46,xx Testicular Disorder of Sex Development

Search GEO for disease gene expression data for 46,xx Testicular Disorder of Sex Development.

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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Sources:
44Novoseek, 24HMDB
See all sources

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

idCompoundScoreTop Affiliating Genes
1serine449.1ROCK1, 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
  • Proteins
  • Lysates

Sources for 46,xx Testicular Disorder of Sex Development

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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