MCID: 46X003
MIFTS: 25

46,xx Testicular Disorder of Sex Development malady

Reproductive diseases category

Summaries for 46,xx Testicular Disorder of Sex Development

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21Genetics Home Reference, 19GeneReviews, 32MalaCards
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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 46xx sex reversal 1. An important gene associated with 46,xx Testicular Disorder of Sex Development is SRY (sex determining region Y). Affiliated tissues include testes.

GeneReviews summary for xxms

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

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60UMLS, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Reproductive diseases


Aliases & Descriptions:

46,xx testicular disorder of sex development 19 42 20 22 21
xx male syndrome 19 42 21
46,xx testicular dsd 19 42
xx sex reversal 42 21
46, xx gonadal sex reversal 42
46,xx gonadal dysgenesis 42
klinefelter syndrome 60
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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Diseases related to 46,xx Testicular Disorder of Sex Development via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 77)
idRelated DiseaseScoreTop Affiliating Genes
1gonadal dysgenesis10.7
246xx sex reversal 110.6
3klinefelter's syndrome10.6
4sry-negative 46,xx testicular disorder of sex development10.5
5sry-positive 46,xx testicular disorder of sex development10.5
6lung fibrosis - immunodeficiency - 46,xx gonadal dysgenesis10.5
7palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal10.4
8metabolic acidosis10.3
9ovarian dysgenesis 110.3
10hypogonadism10.3
11mediastinitis10.2
12serkal syndrome10.2
1346 xx gonadal dysgenesis10.2
1446 xy gonadal dysgenesis10.2
15squamous cell carcinoma10.2
16azoospermia10.2
17turner syndrome10.2
1847,xyy syndrome10.2
1921-hydroxylase deficiency10.1
20male breast cancer10.1
21cryptorchidism10.1
22hypertrophic cardiomyopathy10.1
23breast cancer10.1
24leydig cell tumor10.1
25prostatitis10.1
2648,xxyy syndrome10.1
27arteriovenous fistula9.9
28neurofibromatosis9.9
29alport syndrome9.9
30non-hodgkin lymphoma9.9
31treacher collins syndrome9.9
32urethritis9.9
33gonadoblastoma9.9
34lymphangioleiomyomatosis9.9
35urethral syndrome9.9
36hypoparathyroidism9.9
37wiskott-aldrich syndrome9.9
38sertoli cell-only syndrome9.9
39systemic lupus erythematosus9.9
40borderline personality disorder9.9
41focal dermal hypoplasia9.9
42hypospadias9.9
43priapism9.9
44beckwith-wiedemann syndrome9.9
45cleft palate9.9
46neonatal diabetes mellitus9.9
47gynecomastia9.9
48prostate lymphoma9.9
49adult syndrome9.9
50down syndrome9.9

Graphical network of the top 20 diseases related to 46,xx Testicular Disorder of Sex Development:



Diseases related to 46,xx testicular disorder of sex development

Clinical Features 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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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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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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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50PubMed
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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

Genetic 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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1BioGPS, 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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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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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet