mullerian aplasia and hyperandrogenism
Findings
No curated finding names mullerian aplasia and hyperandrogenism yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0008019), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Early young adult onset
HPO, annotations 2026-09-02
Features
29 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AcneHPOHP:0001061
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Aplasia of the fallopian tubeHPOHP:0032073
- 1 of 1 reported patient
- Aplasia of the uterusHPOHP:0000151
- 1 of 1 reported patient
- Aplasia of the vaginaHPOHP:0003250
- 1 of 1 reported patient
- Increased circulating androstenedione concentrationHPOHP:0025380
- 1 of 1 reported patient
- Increased circulating dehydroepiandrosterone-sulfate concentrationHPOHP:0034589
- 1 of 1 reported patient
Show the remaining 17
- HirsutismHPOHP:0001007
- Very frequent (80% to 99% of cases)
- Hypoplasia of the uterusHPOHP:0000013
- Very frequent (80% to 99% of cases)
- Increased serum testosterone levelHPOHP:0030088
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
- ObesityHPOHP:0001513
- Frequent (30% to 79% of cases)
- Abnormality of the ovaryHPOHP:0000137
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- WNT4HGNC:12783
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · G2P · Autosomal dominant · 2015
- Moderate · Ambry Genetics · Autosomal dominant · 2018
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
3 names
Resolves to: mullerian aplasia and hyperandrogenism
- Also called
- Mullerian duct failure and hyperandrogenismMüllerian duct failure and hyperandrogenismWNT4 Deficiency