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ORPHA:2856

Persistent Müllerian duct syndrome

low confidenceDisorder

Also known as: PMDS · Persistent Müllerian derivatives

Publications

1,525

Trials

0

Interventional, condition-specific

Researchers

1,042

Distinct authors in sample

Gene link

AMH, AMHR2

Definitive

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare disorder/difference of sex development (DSD) characterized by the persistence of Müllerian derivatives, the uterus and/or fallopian tubes, in otherwise normally virilized boys.

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 (5)

persistent Mullerian derivatives · persistent Mullerian duct syndrome · persistent Müllerian derivatives · persistent mullerian duct syndrome, type I · persistent mullerian duct syndrome, type II

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.

  1. Gene identifiedPresent

    Definitive — AMH, AMHR2

  2. LiteraturePresent

    1,525 matched papers (992 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  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 (AMH, AMHR2).

GenCC classification: Definitive.

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?

1,525

1,525 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

1,525 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).

992 in the last 10 years · low confidence

Phrase hits: 1,525 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,042

Distinct author names in 200 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
    Lu D10 papers · 2026

    Health Management Center, General Practice Medical Center, Innovation Institute for Integration of Medicine and Engineering, West China Hospital, Sichuan University, Chengdu, China. donghao.lu@ki.se.

    Papers in Europe PMC
  2. 02
    Lin Y6 papers · 2026

    Health Management Center, General Practice Medical Center, Innovation Institute for Integration of Medicine and Engineering, West China Hospital, Sichuan University, Chengdu, China. donghao.lu@ki.se.

    Papers in Europe PMC
  3. 03
    Chen M5 papers · 2026

    Health Management Center, General Practice Medical Center, Innovation Institute for Integration of Medicine and Engineering, West China Hospital, Sichuan University, Chengdu, China. donghao.lu@ki.se.

    Papers in Europe PMC
  4. 04
    Li Y5 papers · 2026

    Mental Health Center, West China Hospital, Sichuan University, Chengdu, China. liyuchen@wchscu.cn.

    Papers in Europe PMC
  5. 05
    Bertone-Johnson E4 papers · 2026

    Department of Biostatistics and Epidemiology, School of Public Health and Health Sciences, University of Massachusetts Amherst, Amherst, MA, USA; Department of Health Promotion and Policy, School of Public Health and Health Sciences, University of Massachusetts Amherst, Amherst, MA, USA.

    Papers in Europe PMC
  6. 06
    Huang J4 papers · 2026

    Health Management Center, General Practice Medical Center, Innovation Institute for Integration of Medicine and Engineering, West China Hospital, Sichuan University, Chengdu, China. donghao.lu@ki.se.

    Papers in Europe PMC
  7. 07
    Pan Q4 papers · 2026

    Health Management Center, General Practice Medical Center, Innovation Institute for Integration of Medicine and Engineering, West China Hospital, Sichuan University, Chengdu, China. donghao.lu@ki.se.

    Papers in Europe PMC
  8. 08
    Raskin JS4 papers · 2026

    Department of Neurosurgery, Northwestern University Feinberg School of Medicine, Chicago , Illinois , USA.

    Papers in Europe PMC
  9. 09
    Valdimarsdóttir UA4 papers · 2026

    Unit of Integrative Epidemiology, Institute of Environmental Medicine, Karolinska Institutet, Stockholm, Sweden; Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA, USA; Center of Public Health Sciences, Faculty of Medicine, University of Iceland, Reykjavik, Iceland.

    Papers in Europe PMC
  10. 10
    Bencker C3 papers · 2025

    Department of Clinical and Health Psychology, Faculty of Psychology, University of Vienna, Vienna, Austria.

    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. 1 observational study 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.

low 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

1 observational study matches 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.

Open the complete matched search on ClinicalTrials.gov

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 2026-07-26

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.

"Persistent Müllerian duct syndrome" OR "Persistent Müllerian derivatives" OR "persistent Mullerian derivatives" OR "persistent Mullerian duct syndrome" OR "persistent mullerian duct syndrome, type I" OR "persistent mullerian duct syndrome, type II"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Persistent Müllerian duct syndrome" OR "Persistent Müllerian derivatives" OR "persistent Mullerian derivatives" OR "persistent Mullerian duct syndrome" OR "persistent mullerian duct syndrome, type I" OR "persistent mullerian duct syndrome, type II" OR "AMH" OR "AMHR2"

Recall-expansion terms: AMH, AMHR2

Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: PMDS

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (1525) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T21:27:39.770Z