46,xx Sex Reversal 1 (SRXX1)

Alias:
46,xx Testicular Disorder of Sex Development
Srxx1
46,xx Gonadal Dysgenesis, Complete, Sry-Positive
Ovotesticular Disorder of Sex Development
46,xx Ovotesticular Difference of Sex Development
46,xx Ovotesticular Disorder of Sex Development
46,xx Gonadal Dysgenesis Complete Sry-Positive
46, Xx Testicular Disorders of Sex Development
Ovotesticular Disorders of Sex Development
46,xx True Hermaphroditism Sry-Positive
46,xx Sex Reversal, Sry-Positive
46,xx Sex Reversal Sry-Positive
46,xx Sex Reversal, Type 1
De La Chapelle Syndrome
46,xx Ovotesticular Dsd
Xx Male, Sry-Positive
46,xx Testicular Dsd
Xx Male Sry-Positive
True Hermaphroditism
46xx Sex Reversal 1
True Hermaphrodite
Xx, Male Syndrome
Ovotesticular Dsd
Ovotestis
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
46,xx Sex Reversal 1, also known as 46,xx testicular disorder of sex development, is related to nonsyndromic 46,xx testicular disorders/differences of sex development and 46,xx sex reversal. An important gene associated with 46,xx Sex Reversal 1 is SRY (Sex Determining Region Y), and among its related pathways/superpathways are Deactivation of the beta-catenin transactivating complex and Mammalian disorder of sexual development. Affiliated tissues include testes and uterus, and related phenotypes are cryptorchidism and polycystic ovaries
Related ID:
MESH:D023961
ICD11:989785304

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
XL
XLD
AR
XLR
Antenatal
1-9/100000
4
63
18

Medical Symptom

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

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

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

References Literature

Title
PMID
Journal
Year
IF
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