MCID: 46X003
MIFTS: 26

46,xx Testicular Disorder of Sex Development malady

Genetic diseases, Rare diseases, Reproductive diseases categories

Summaries for 46,xx Testicular Disorder of Sex Development

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22Genetics Home Reference, 20GeneReviews, 34MalaCards
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Genetics Home Reference:22 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:
63UMLS, 20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics 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 20 44 21 23 22
xx male syndrome 20 44 22
46,xx testicular dsd 20 44
xx sex reversal 44 22
46, xx gonadal sex reversal 44
46,xx gonadal dysgenesis 44
klinefelter syndrome 63
46,xx sex reversal 22


Related Diseases for 46,xx Testicular Disorder of Sex Development

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18GeneCards, 19GeneDecks
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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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Genetic Tests for 46,xx Testicular Disorder of Sex Development

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21GeneTests, 23GTR
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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 Development21 23 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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53PubMed
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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, 16Gene 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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46Novoseek, 25HMDB
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Compounds related to 46,xx Testicular Disorder of Sex Development according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1serine469.1ROCK1, SRY
2Guanosine triphosphate258.8ROCK1, 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
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  • Antibodies

Sources for 46,xx Testicular Disorder of Sex Development

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet