MCID: 46X003
MIFTS: 20

46,xx Testicular Disorder of Sex Development malady

Reproductive category

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 klinefelter's syndrome and 46xx sex reversal 1. An important gene associated with 46,xx Testicular Disorder of Sex Development is SRY (sex determining region Y).

GeneReviews summary for xxms

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

Sources:
19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 61UMLS
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Classifications:

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


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 61
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 85)
idRelated DiseaseScoreTop Affiliating Genes
1klinefelter's syndrome11.0
246xx sex reversal 110.6
3sry-negative 46,xx testicular disorder of sex development10.6
4sry-positive 46,xx testicular disorder of sex development10.6
5lung fibrosis - immunodeficiency - 46,xx gonadal dysgenesis10.5
6short stature10.4
7palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal10.4
8precocious puberty10.3
9kallmann syndrome10.3
10metabolic acidosis10.3
11short syndrome10.3
12ovarian dysgenesis 110.3
13central precocious puberty10.2
14serkal syndrome10.2
15cryptorchidism10.2
16anal squamous cell carcinoma10.2
17squamous cell carcinoma10.2
18keratoderma10.2
19azoospermia10.2
20germinoma10.2
21male breast cancer10.1
22hypertrophic cardiomyopathy10.1
23taurodontism10.1
24polyembryoma10.1
25tau syndrome10.1
2648,xxyy syndrome10.1
27germ cell tumors10.1
28insulin resistance10.1
29neurofibromatosis9.9
30treacher collins syndrome9.9
31gonadoblastoma9.9
32lymphangioleiomyomatosis9.9
33urethral syndrome9.9
34hypoparathyroidism9.9
35wiskott-aldrich syndrome9.9
36sertoli cell-only syndrome9.9
37systemic lupus erythematosus9.9
38borderline personality disorder9.9
39focal dermal hypoplasia9.9
40hypospadias9.9
41priapism9.9
42beckwith-wiedemann syndrome9.9
43cleft palate9.9
44neonatal diabetes mellitus9.9
45gynecomastia9.9
46prostate lymphoma9.9
47adult syndrome9.9
48sick sinus syndrome9.9
49denys-drash syndrome9.9
50acute lymphocytic leukemia9.9

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

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

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5CenterWatch, 42NIH 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

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

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28inGenious Targeting Laboratory
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Publications for 46,xx Testicular Disorder of Sex Development

Genetic Variations for 46,xx Testicular Disorder of Sex Development

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

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

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

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

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet