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ORPHA:247768

Müllerian aplasia and hyperandrogenism

low confidenceDisorder

Also known as: Müllerian duct failure and hyperandrogenism · WNT4 deficiency

Publications

9,603

Trials

0

Interventional, condition-specific

Researchers

504

Distinct authors in sample

Gene link

WNT4

Strong

Readiness

3/6

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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.”

3/6 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.

  1. Gene identifiedPresent

    Strong — WNT4

  2. LiteraturePresent

    9,603 matched papers (6,294 in last 10 years) Source

  3. Phenotype characterisedPresent

    32 HPO annotations (e.g. Cleft palate; Protruding ear; Short neck) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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)

32

Associated phenotypes · MONDO:0008019

  • Cleft palate
  • Protruding ear
  • Short neck
  • Thick eyebrow
  • Brachydactyly

Showing 5 of 32 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

9,603

9,603 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

9,603 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

6,294 in the last 10 years · low confidence

Phrase hits: 68 · MeSH hits: 3

Open Europe PMC search

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.

  1. 01
    Chen 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
  2. 02
    Scott DA3 papers · 2026

    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

    Papers in Europe PMC
  3. 03
    Wang L3 papers · 2023

    BGI-Wuhan Clinical Laboratory, BGI-Shenzhen, 430074, Wuhan, China.

    Papers in Europe PMC
  4. 04
    Zhang X3 papers · 2024

    Department of Cardiology, Zhongshan Hospital, Fudan University, Shanghai Institute of Cardiovascular Diseases, Shanghai, China.

    Papers in Europe PMC
  5. 05
    Azizan 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
  6. 06
    Biason-Lauber A2 papers · 2008

    University Children's Hospital, Zurich, Switzerland. Anna.Lauber@kispi.uzh.ch

    Papers in Europe PMC
  7. 07
    Brown 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
  8. 08
    Chen 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
  9. 09
    Christian DA2 papers · 2019

    Department of Pathobiology, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA 19104.

    Papers in Europe PMC
  10. 10
    Heinonen 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 on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).

Data as of 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th 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.

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Müllerian aplasia and hyperandrogenism — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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") OR (MESH:"Mullerian Aplasia and Hyperandrogenism") OR ("WNT4" OR "WNT4 syndrome" OR "WNT4-related")

Run this search on Europe PMC

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"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh

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
  • Publication count (9603) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T10:36:40.454Z