Nonsyndromic 46,xx Testicular Disorders/differences of Sex Development

Alias:
46,xx Testicular Dsd
46,xx Testicular Difference of Sex Development
46,xx Testicular Disorder of Sex Development
Xx Male Syndrome
Nonsyndromic 46,xx Testicular Disorder/difference of Sex Development
De La Chapelle Syndrome
Xx, Male Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Nonsyndromic 46,xx Testicular Disorders/differences of Sex Development, also known as 46,xx testicular dsd, is related to 46,xx sex reversal 1 and 46,xx sex reversal. An important gene associated with Nonsyndromic 46,xx Testicular Disorders/differences of Sex Development is NR5A1 (Nuclear Receptor Subfamily 5 Group A Member 1), and among its related pathways/superpathways are Signaling by WNT and Nuclear receptors. Affiliated tissues include testes and breast, and related phenotypes are polycystic ovaries and decreased testicular size
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
Unknown
1-9/100000
5
75
31

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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IF
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