Mayer-Rokitansky-Kuster-Hauser syndrome
Findings
No curated finding names Mayer-Rokitansky-Kuster-Hauser syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper 2/3 of the vagina in otherwise phenotypically normal females. It can be classified as either MRKH syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).
Definition from the Mondo Disease Ontology (MONDO:0017771), read 2026-09-29. CC BY 4.0.
Features
24 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Aplasia of the uterusHPOHP:0000151
- Very frequent (80% to 99% of cases)
- Hypoplasia of the vaginaHPOHP:0008726
- Very frequent (80% to 99% of cases)
- Primary amenorrheaHPOHP:0000786
- Very frequent (80% to 99% of cases)
- Abdominal painHPOHP:0002027
- Frequent (30% to 79% of cases)
- Abnormality of the kidneyHPOHP:0000077
- Frequent (30% to 79% of cases)
- AnxietyHPOHP:0000739
- Frequent (30% to 79% of cases)
- Depression
Show the remaining 12
- Aplasia of the ovaryHPOHP:0010463
- Occasional (5% to 29% of cases)
- Bipolar affective disorderHPOHP:0007302
- Occasional (5% to 29% of cases)
- Ectopic kidneyHPOHP:0000086
- Occasional (5% to 29% of cases)
- Ectopic ovaryHPOHP:0031086
- Occasional (5% to 29% of cases)
- EndometriosisHPOHP:0030127
- Occasional (5% to 29% of cases)
- Horseshoe kidneyHPOHP:0000085
- Occasional (5% to 29% of cases)
Genes
3 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
Other names
6 names
Resolves to: Mayer-Rokitansky-Kuster-Hauser syndrome
- Also called
- Mayer-Rokitansky-Küster-Hauser SyndromeMRKHMRKH syndromeMullerian aplasia/dysgenesisRokitansky Kuster Hauser syndromeRokitansky syndrome