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ORPHA:3109

Mayer-Rokitansky-Küster-Hauser syndrome

medium confidenceDisorder

Also known as: MRKH syndrome · Rokitansky syndrome

Publications

19,658

97.3th percentile

Trials

9

Interventional, condition-specific

Researchers

1,017

Distinct authors in sample

Gene link

BMP7, TBX6, ZNHIT3

Strong

Readiness

4/6

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.”

4/6 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

    19,658 matched papers (11,249 in last 10 years) Source

  3. Phenotype characterisedPresent

    67 HPO annotations (e.g. Aplasia of the uterus; Anxiety; Abdominal pain) 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 trialPresent

    9 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)

67

Associated phenotypes · MONDO:0017771

  • Aplasia of the uterus
  • Anxiety
  • Abdominal pain
  • Ectopic kidney
  • Abnormal vertebral body morphology

Showing 5 of 67 — 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?

19,658

19,658 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.

19,658 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).

11,249 in the last 10 years · medium confidence · 97.3th 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?

9

interventional trials for this specific condition

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

Data as of 11 September 2026 · last trial check 28 July 2026

9 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 92th percentile).

medium confidence · 92th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

9 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

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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · dropped 0 · fetched 2026-07-29

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).

Uncertain / not reviewed (1)

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 Mayer-Rokitansky-Küster-Hauser syndrome — 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.

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

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"

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: 9 interventional · 5 observational · 0 expanded access. Only interventional studies enter the trial headline.

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

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