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ORPHA:3109

Mayer-Rokitansky-Küster-Hauser syndrome

medium confidenceDisorder

Also known as: MRKH syndrome · Rokitansky syndrome

Publications

2,293

94.4th percentile

Trials

10

Interventional, condition-specific

Researchers

1,017

Distinct authors in sample

Gene link

BMP7, TBX6, ZNHIT3

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare spectrum of Mullerian duct anomalies characterized by aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).

How rare: 1-5 / 10 000 — about one to five people per ten thousand (still uncommon, but less ultra-rare).

Orphanet entry

Cross-references

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

Additional Mondo synonyms (4)

MRKH · Mayer-Rokitansky-Küster-Hauser Syndrome · Mullerian aplasia/dysgenesis · Rokitansky Kuster Hauser syndrome

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

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Strong — BMP7, TBX6, ZNHIT3

  2. LiteraturePresent

    2,293 matched papers (1,413 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 trialPresent

    10 matched on ClinicalTrials.gov (4 recruiting in sample)

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 (BMP7, TBX6, ZNHIT3).

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?

2,293

2,293 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.

2,293 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).

1,413 in the last 10 years · medium confidence · 94.4th percentile (publications denominator)

Phrase hits: 2,293 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,017

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Wang Y8 papers · 2026

    Department of Gynecology, the Fourth Hospital of Hebei Medical University, No.12 Health Road, Chang' an District, Shijiazhuang, 050011, Hebei, China.

    Papers in Europe PMC
  2. 02
    Zhu L8 papers · 2026

    Department of Gynecology, Hangzhou Women's Hospital, Hangzhou, Zhejiang, P. R. China.

    Papers in Europe PMC
  3. 03
    Zhang Y6 papers · 2026

    State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing, China; Clinical Biobank, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China; National Infrastructures for Translational Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing 100730, China.

    Papers in Europe PMC
  4. 04
    Andraus W5 papers · 2026

    Department of Gastroenterology, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo (HCFMUSP), São Paulo, SP, Brazil.

    Papers in Europe PMC
  5. 05
    Baracat EC4 papers · 2026

    Department of Obstetrics and Gynecology, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo (HCFMUSP), São Paulo, SP, Brazil.

    Papers in Europe PMC
  6. 06
    Brucker SY4 papers · 2026

    Department of Obstetrics and Gynecology, University of Tübingen, 72076 Tübingen, Germany.

    Papers in Europe PMC
  7. 07
    Candiani M4 papers · 2026

    Obstetrics and Gynecology Department, IRCCS San Raffaele Scientific Institute, Milan, Italy.

    Papers in Europe PMC
  8. 08
    Chaudhary A4 papers · 2024

    Everest Hospital Pvt Ltd, New Baneshwor, Kathmandu, Nepal

    Papers in Europe PMC
  9. 09
    Chen N4 papers · 2026

    Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, National Clinical Research Center for Obstetric and Gynecologic Diseases, The State Key Laboratory for Complex, Severe, and Rare Diseases, Beijing 100730, China.

    Papers in Europe PMC
  10. 10
    Harumatsu T4 papers · 2026

    Department of Pediatric Surgery, Research Field in Medicine and Health Sciences, Medical and Dental Sciences Area, Research and Education Assembly, Kagoshima University, 8-35-1, Sakuragaoka, Kagoshima, 890-8520, Japan.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

10

interventional trials for this specific condition

10 interventional trials matched this specific condition name; 4 currently recruiting in our sample.

Data as of 27 July 2026

10 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 91.7th percentile).

medium confidence · 91.7th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

10 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

5 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.

Recruiting or not-yet-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.

"Mayer-Rokitansky-Küster-Hauser syndrome" OR "MRKH syndrome" OR "Rokitansky syndrome" OR "Mullerian aplasia/dysgenesis" OR "Rokitansky Kuster Hauser syndrome"

Run this search on Europe PMC

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

"Mayer-Rokitansky-Küster-Hauser syndrome" OR "MRKH syndrome" OR "Rokitansky syndrome" OR "Mullerian aplasia/dysgenesis" OR "Rokitansky Kuster Hauser syndrome" OR "BMP7" OR "TBX6" OR "ZNHIT3"

Recall-expansion terms: BMP7, TBX6, ZNHIT3

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 10 interventional · 5 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: MRKH

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

Ingested 2026-07-26T22:15:24.252Z