Mullerian aplasia and hyperandrogenism

Definition

Deficiency of the glycoprotein WNT4, associated with loss of function mutation(s) in the WNT4 gene. The condition in 46,XX individuals is characterized by mild hyperandrogenism, absence of underdevelopment of the uterus, and sometimes absence of underdevelopment of the vagina.

Also known as mullerian aplasia and hyperandrogenism, Mullerian duct failure and hyperandrogenism, WNT4 Deficiency — per MONDO

Also identified as

• DOID 0111526 per MONDO
• MESH C567186 per MONDO
• NCIT C120376 per MONDO
• OMIM 158330 per MONDO
• Orphanet 247768 per MONDO
• UMLS C2675014 per MONDO

Affected Organs