46,xy Sex Reversal 6 (SRXY6)

46,xy Sex Reversal 6(来自ICD-11)

别称:

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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