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EN46,xy Disorder of Sex Development
Alias:
46,xy Dsd Due to a Defect in Testosterone Metabolism
Male Pseudohermaphroditism with Androgen Resistance
Male Pseudohermaphroditism with Feminizing Testis
Tfm - [testicular Feminisation Syndrome]
Peripheral Androgen Receptor Disorder
Testicular Feminization Syndrome
Testicular Feminisation Syndrome
Androgen Insensitivity Syndrome
Syndrome of Feminising Testes
Syndrome of Feminizing Testes
Androgen Resistance Syndrome
Goldberg-Maxwell Syndrome
Goldberg-Morris Syndrome
Testicular Feminisation
Morris Syndrome
46,xy Dsd
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46,xy Disorder of Sex Development, also known as 46,xy dsd due to a defect in testosterone metabolism, is related to leydig cell hypoplasia and 46,xy sex reversal 3. An important gene associated with 46,xy Disorder of Sex Development is NR5A1 (Nuclear Receptor Subfamily 5 Group A Member 1), and among its related pathways/superpathways are NFAT and Cardiac Hypertrophy and Hippo-Merlin signaling dysregulation. The drug Androgens has been mentioned in the context of this disorder. Affiliated tissues include testes and testis, and related phenotypes are Increased shRNA abundance (Z-score > 2) and homeostasis/metabolism
Related ID：
ICD11：1688293388
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MALACARDS
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