ORPHA:247768
Müllerian aplasia and hyperandrogenism
Also known as: Müllerian duct failure and hyperandrogenism · WNT4 deficiency
Publications
68
50.1th percentile
Trials
0
Interventional, condition-specific
Researchers
504
Distinct authors in sample
Gene link
WNT4
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare syndrome with 46,XX difference of sex development characterized by Müllerian duct hypoplasia or agenesis associated with clinical and biological evidence of hyperandrogenism in 46,XX females. Patients present with hypoplastic or absent uterus, variable abnormalities of other reproductive organs, primary amenorrhea, acne, hirsutism, and sometimes renal anomalies. External genitalia and secondary sexual characteristics are normal. Hormonal analysis shows variably elevated serum levels of androstenedione, dehydroepiandrosterone, and/or total and free testosterone.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0008019
- MeSH:C567186
- OMIM:158330
- UMLS:C2675014
- NCIT:C120376
Additional Mondo synonyms (3)
Mullerian duct failure and hyperandrogenism · WNT4 Deficiency · mullerian aplasia and hyperandrogenism
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Strong — WNT4
- LiteraturePresent
68 matched papers (41 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Yes — we know a specific gene responsible (WNT4).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
68
68 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
68 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
41 in the last 10 years · high confidence · 50.1th percentile (publications denominator)
Phrase hits: 68 · MeSH hits: 3
Who's working on it?
504
Distinct author names in 68 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Chen Z3 papers · 2025
Center for Cancer and Immunology Research, Children's Research Institute, Children's National Medical Center, 111 Michigan Ave. NW, Washington, DC 20010, USA.
Papers in Europe PMC - 02Scott DA3 papers · 2026
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Papers in Europe PMC - 03Wang L3 papers · 2023
BGI-Wuhan Clinical Laboratory, BGI-Shenzhen, 430074, Wuhan, China.
Papers in Europe PMC - 04Zhang X3 papers · 2024
Department of Cardiology, Zhongshan Hospital, Fudan University, Shanghai Institute of Cardiovascular Diseases, Shanghai, China.
Papers in Europe PMC - 05Azizan EA2 papers · 2024
From the Centre for Clinical Pharmacology, William Harvey Research Institute, Barts and the London School of Medicine & Dentistry, Queen Mary University of London, United Kingdom (J.Z., M.J.B.); Clinical Pharmacology Unit, Department of Medicine, University of Cambridge (J.Z.), University of Cambridge Metabolic Research Laboratories, Wellcome Trust MRC Institute of Metabolic Science (B.L., G.S.H.Y.), Cambridge University Hospitals NHS Foundation Trust (S.G.N.), Addenbrooke's Hospital, United Kingdom; and Department of Medicine, Faculty of Medicine, The National University of Malaysia (UKM) Medical Centre, Kuala Lumpur (E.A.B.A.). elena.azizan@ukm.edu.my.
Papers in Europe PMC - 06Biason-Lauber A2 papers · 2008
University Children's Hospital, Zurich, Switzerland. Anna.Lauber@kispi.uzh.ch
Papers in Europe PMC - 07Brown MJ2 papers · 2024
From the Centre for Clinical Pharmacology, William Harvey Research Institute, Barts and the London School of Medicine & Dentistry, Queen Mary University of London, United Kingdom (J.Z., M.J.B.); Clinical Pharmacology Unit, Department of Medicine, University of Cambridge (J.Z.), University of Cambridge Metabolic Research Laboratories, Wellcome Trust MRC Institute of Metabolic Science (B.L., G.S.H.Y.), Cambridge University Hospitals NHS Foundation Trust (S.G.N.), Addenbrooke's Hospital, United Kingdom; and Department of Medicine, Faculty of Medicine, The National University of Malaysia (UKM) Medical Centre, Kuala Lumpur (E.A.B.A.).
Papers in Europe PMC - 08Chen X2 papers · 2026
The Sixth Affiliated Hospital / Innovation Centre of Ministry of Education for Development and Diseases, School of Medicine, South China University of Technology, Guangzhou, 510006, China.
Papers in Europe PMC - 09Christian DA2 papers · 2019
Department of Pathobiology, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA 19104.
Papers in Europe PMC - 10Heinonen KM2 papers · 2022
Institut national de recherche scientifique, Centre Armand Frappier Santé Biotechnologie, Laval, Canada; Centre d'Excellence de Recherche sur les Maladies Orphelines - Fondation Courtois (CERMO-FC), Montreal, Canada. Electronic address: krista.heinonen@inrs.ca.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name. 2 observational studies did — shown below because natural-history and cohort work can be an important step toward a trial.
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Observational and natural-history studies
2 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
None of the matched observational studies is currently listed as recruiting.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Müllerian aplasia and hyperandrogenism" OR "Müllerian duct failure and hyperandrogenism" OR "WNT4 deficiency" OR "Mullerian duct failure and hyperandrogenism" OR "mullerian aplasia and hyperandrogenism"
MeSH descriptor terms unioned into the query: Mullerian Aplasia and Hyperandrogenism
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Müllerian aplasia and hyperandrogenism" OR "Müllerian duct failure and hyperandrogenism" OR "WNT4 deficiency" OR "Mullerian duct failure and hyperandrogenism" OR "mullerian aplasia and hyperandrogenism" OR "WNT4" OR "partial bilateral aplasia of the mullerian ducts"
Recall-expansion terms: WNT4, partial bilateral aplasia of the mullerian ducts
Study-type breakdown: 0 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh, recall-expansion
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T10:36:40.454Z