RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:247775

Mayer-Rokitansky-Küster-Hauser syndrome type 1

high confidenceSubtype of disorder

Also known as: Congenital absence of uterus and vagina · MRKH syndrome type 1 · Rokitansky sequence

Publications

162

53.8th percentile

Trials

0

Interventional, condition-specific

Researchers

650

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1, a form of MRKH syndrome, is an isolated form of aplasia of the uterus and 2/3 of the vagina occurring in otherwise phenotypically normal females.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

congenital absence of uterus and vagina

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

Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    162 matched papers (77 in last 10 years) Source

  3. Phenotype characterisedPresent

    15 HPO annotations (e.g. Downslanted palpebral fissures; Hypoplasia of the uterus; Reduced renal corticomedullary differentiation) 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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

15

Associated phenotypes · MONDO:0010173

  • Downslanted palpebral fissures
  • Hypoplasia of the uterus
  • Reduced renal corticomedullary differentiation
  • Renal medullary hyperechogenicity
  • Aplasia of the uterus

Showing 5 of 15 — 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?

162

162 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=3967) is 59.

162 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).

77 in the last 10 years · high confidence · 53.8th percentile (publications denominator)

Phrase hits: 162 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

650

Distinct author names in 162 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
    Reindollar RH9 papers · 2016

    American Society for Reproductive Medicine, Birmingham, AL USA.

    Papers in Europe PMC
  2. 02
    Layman LC8 papers · 2026

    Department of Obstetrics and Gynecology, The Institute of Molecular Medicine and Genetics, The Medical College of Georgia, Augusta, GA 30912-3360, USA. Llayman@mail.mcg.edu

    Papers in Europe PMC
  3. 03
    Chorich LP6 papers · 2026

    Section of Reproductive Endocrinology, Infertility, and Genetics, Department of Obstetrics and Gynecology, Medical College of Georgia, Augusta University, Augusta, Georgia.

    Papers in Europe PMC
  4. 04
    Gray MR6 papers · 2008
    Papers in Europe PMC
  5. 05
    Kim HG6 papers · 2026

    Section of Reproductive Endocrinology, Infertility, and Genetics, Department of Obstetrics and Gynecology, Medical College of Georgia, Augusta University, Augusta, Georgia.

    Papers in Europe PMC
  6. 06
    Phillips JA 3rd5 papers · 2026

    Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University School of Medicine, Nashville, TN 37232, USA.

    Papers in Europe PMC
  7. 07
    Davis AJ4 papers · 2003
    Papers in Europe PMC
  8. 08
    Guerrier D4 papers · 2012

    CNRS UMR 6061, Génétique et Développement, Université de Rennes 1, Groupe IPD, IFR140 GFAS, Faculté de Médecine, Rennes, France. daniel.guerrier@univ-rennes1.fr

    Papers in Europe PMC
  9. 09
    Kapczuk K4 papers · 2022

    Division of Gynecology, Department of Perinatology and Gynecology, Poznan University of Medical Sciences, Poznan, Poland. Electronic address: karkap@umed.poznan.pl.

    Papers in Europe PMC
  10. 10
    Sullivan ME4 papers · 2024

    Section of Reproductive Endocrinology, Infertility, and Genetics, Department of Obstetrics and Gynecology, Medical College of Georgia, Augusta University, Augusta, Georgia.

    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.

high 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 Mayer-Rokitansky-Küster-Hauser syndrome type 1 — 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 type 1" OR "Congenital absence of uterus and vagina" OR "Congenital absence of the uterus and vagina" OR "MRKH syndrome type 1" OR "Rokitansky sequence"

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 type 1" OR "Congenital absence of uterus and vagina" OR "Congenital absence of the uterus and vagina" OR "MRKH syndrome type 1" OR "Rokitansky sequence"

Study-type breakdown: 0 interventional · 0 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

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 2026-07-27T10:36:52.532Z