46,xy Sex Reversal

Alias:
Swyer Syndrome
Pure Gonadal Dysgenesis 46,xy
Gonadal Dysgenesis, 46,xy
Gonadal Dysgenesis, Xy Female Type
46,xy Complete Gonadal Dysgenesis
46,xy Pure Gonadal Dysgenesis
Female with 46,xy Karyotype
Xy Pure Gonadal Dysgenesis
46 Xy Gonadal Dysgenesis
Xy Females
46,xy Cgd
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
46,xy Sex Reversal, also known as swyer syndrome, is related to 46,xy sex reversal 1 and 46,xy sex reversal 11. An important gene associated with 46,xy Sex Reversal is AR (Androgen Receptor), and among its related pathways/superpathways are Signal Transduction and Nervous system development. Affiliated tissues include uterus and testes, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Reduced mammosphere formation
Related ID:
MESH:D006061
ICD11:1844256276

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
XL
XLD
AR
Adolescent
--
24
256
2

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
No Data Found!
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