Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis (ABS1)

Alias:
Antley-Bixler Syndrome, with Genital Anomalies and Disordered Steroidogenesis
Abs1
Antley-Bixler Syndrome with Genital Anomaly and Disorder of Steroidogenesis
Antley-Bixler Syndrome-Like Phenotype with Disordered Steroidogenesis
Ambiguous Genitalia-Disordered Steroidogenesis Antley-Bixler Syndrome
Antley-Bixler Syndrome with Disordered Steroidogenesis
Cytochrome P450 Oxidoreductase Deficiency
Por Deficiency
Favorite
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis, also known as antley-bixler syndrome, with genital anomalies and disordered steroidogenesis, is related to disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency and cytochrome p450 oxidoreductase deficiency. An important gene associated with Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis is POR (Cytochrome P450 Oxidoreductase). Affiliated tissues include bone and kidney, and related phenotypes are ambiguous genitalia and single umbilical artery
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
--
1
9
16

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!
Wechat
Comparison
Al agent
Tutorials
Back to top