Mullerian aplasia and hyperandrogenism
MONDO:0008019Deficiency 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 duct failure and hyperandrogenism, Müllerian duct failure and hyperandrogenism, WNT4 Deficiency, WNT4 deficiency, mullerian aplasia and hyperandrogenism, Müllerian aplasia and hyperandrogenism
3 clinical trials for this condition and its sub-types.
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Disease
(618)
Hereditary disease
(172)
Female reproductive system disorder
(23)
Human disease
(14)
Reproductive system disorder
(13)
Mullerian aplasia
(7)
Disease of genetic or genomic mechanism
(2)
Disease by body system or component
(0)
Disease by etiologic mechanism
(0)
Partial bilateral aplasia of the mullerian ducts
(0)