46,xy Sex Reversal 8 (SRXY8)

Alias:
46,xy Disorder of Sex Development Due to Testicular 17,20-Desmolase Deficiency
Male Pseudohermaphroditism Due to Deficiency of Testicular 17,20-Desmolase
Srxy8
Tdd
46,xy Difference of Sex Development Due to Testicular 17,20-Desmolase Deficiency
Male Pseudohermaphroditism: Deficiency of Testicular 17,20-Desmolase
46xy Sex Reversal 8, Modifier of
46,xy Sex Reversal, Type 8
46xy Sex Reversal 8
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
46,xy Sex Reversal 8, also known as 46,xy disorder of sex development due to testicular 17,20-desmolase deficiency, is related to 46,xy sex reversal and hepatocellular carcinoma. An important gene associated with 46,xy Sex Reversal 8 is AKR1C2 (Aldo-Keto Reductase Family 1 Member C2), and among its related pathways/superpathways are Apoptosis modulation and signaling and Bupropion Pathway, Pharmacokinetics. Affiliated tissues include ovary and testis, and related phenotypes are cryptorchidism and male pseudohermaphroditism
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
13
75
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
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