Androgen Insensitivity Syndrome (AIS)

Alias:
Androgen Resistance Syndrome
Testicular Feminization Syndrome
Ais
Androgen Receptor Deficiency
Dihydrotestosterone Receptor Deficiency
Goldberg-Maxwell Syndrome
Testicular Feminization
Dhtr Deficiency
Ar Deficiency
Androgen-Insensitivity Syndrome
Androgen Insensitivity
Morris Syndrome
Tfm
Complete Androgen Insensitivity Syndrome
Insensitivity Syndrome, Androgen
Goldberg - Maxwell Syndrome
Androgen Insensitivity Nos
Feminisation - Testicular
Cais
Ary
Ar
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Androgen Insensitivity Syndrome, also known as androgen resistance syndrome, is related to androgen insensitivity, partial and complete androgen insensitivity syndrome. An important gene associated with Androgen Insensitivity Syndrome is AR (Androgen Receptor), and among its related pathways/superpathways are Signal Transduction and Glucose / Energy Metabolism. The drugs Temsirolimus and (R)-Bicalutamide have been mentioned in the context of this disorder. Affiliated tissues include testes and uterus, and related phenotypes are inguinal hernia and primary amenorrhea
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XL
XLD
Antenatal
1-9/100000
35
356
310

Medical Symptom

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

Gene & Mutation

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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

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PMID
Journal
Year
IF
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