46,xy Sex Reversal 6 (SRXY6)

Alias:
Srxy6
46,xy Gonadal Dysgenesis, Partial or Complete, Map3k1-Related
46,xy Sex Reversal, Partial or Complete, Map3k1-Related
46,xy Gonadal Dysgenesis Partial or Complete Map3k1-Related
46,xy Sex Reversal Partial or Complete Map3k1-Related
46,xy Sex Reversal, Type 6
46xy Sex Reversal 6
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
46,xy Sex Reversal 6, also known as srxy6, is related to spinocerebellar ataxia, autosomal recessive 14 and quadriplegia. An important gene associated with 46,xy Sex Reversal 6 is MAP3K1 (Mitogen-Activated Protein Kinase Kinase Kinase 1), and among its related pathways/superpathways is Fatty acyl-CoA biosynthesis. Affiliated tissues include testes and uterus, and related phenotypes are hirsutism and gonadal dysgenesis
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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5
52
8

Medical Symptom

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Gene & Mutation

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Disease Model

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MGI
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Publications
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References Literature

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