Mayer-Rokitansky-Küster-Hauser syndrome
Synonyms: MRKH syndrome · Rokitansky syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Adolescent, Antenatal
- Status
- active
A rare spectrum of Mullerian duct anomalies characterized by congenital 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).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mayer-Rokitansky-Küster-Hauser syndrome | MRKH syndrome · Rokitansky syndrome |
| fr | Syndrome de Mayer-Rokitansky-Küster-Hauser | Syndrome MRKH · Syndrome de Rokitansky |
| de | Mayer-Rokitansky-Küster-Hauser-Syndrom | MRKH-Syndrom · Rokitansky Sequenz · Rokitansky-Syndrom |
| es | Síndrome de Mayer-Rokitansky-Küster-Hauser | Síndrome MRKH · Síndrome de Rokitansky |
| it | Sindrome di Mayer-Rokitansky-Küster-Hauser | Sindrome MRKH · Sindrome di Rokitansky |
| nl | Syndroom van Mayer-Rokitansky-Küster-Hauser | MRKH-syndroom · Syndroom van Rokitansky |
| pt | Síndrome Mayer-Rokitansky-Küster-Hauser | Síndrome MRKH · Síndrome Rokitansky |
| pl | Zespół Mayera,Rokitansky'ego,Küstera i Hausera | Zespół MRKH · Zespół Rokitansky'ego |
| cs | Mayerův-Rokitanského-Küsterův-Hauserův syndrom | MRKH syndrom · Rokitanského syndrom · Mayer-Rokitansky-Küster-Hauserův syndrom · Mayerův-Rokitanského-Küsterův syndrom · Mayer-Rokitansky-Küsterův syndrom |
| uk | Синдром Майєра-Рокітанського-Кюстера-Хаузера | Синдром MRKH · Синдром Рокітанського |
| zh | MRKH综合征 | Rokitansky综合征 |
| tr | Mayer-Rokitansky-Küster-Hauser sendromu | MRKH sendromu · Rokitansky sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 277000 | BTNT | validated | |
| OMIM | 601076 | BTNT | validated | |
| ICD-10 | Q51.8 | NTBT | attributed | validated |
| ICD-11 | LB44.Y | NTBT | index | validated |
| MONDO | 0017771 | E | validated | |
| UMLS | C0431648 | E | validated | |
| MedDRA | 10065148 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:400025Female infertility due to an implantation defect of genetic origin
rare genetic diseases - ORPHA:180068Partial bilateral aplasia of the Müllerian ducts
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital diseases; rare gynecological and obstetric diseases; rare transplant-related disorders - ORPHA:399882Rare female infertility due to an implantation defect
rare infertility disorders - ORPHA:93547Syndromic renal or urinary tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare renal diseases; rare transplant-related disorders
Genes
0 direct · 2 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| HNF1B | ORPHA:2578Mayer-Rokitansky-Küster-Hauser syndrome type 2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:11630 | ENSG00000275410 | 189907 | 17q12 | HNF1 homeobox B | 36282544[PMID] |
| WNT4 | ORPHA:2578Mayer-Rokitansky-Küster-Hauser syndrome type 2 | Disease-causing germline mutation(s) in | Assessed | HGNC:12783 | ENSG00000162552 | 603490 | 1p36.12 | Wnt family member 4 | 18182450[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-5 / 10 000 | 11 / 100 000 | Worldwide | Value and class | Validated | [EXPERT]_22740494[PMID]_17359527[PMID] |
| Point prevalence | 1-5 / 10 000 | — | Worldwide | Class only | Validated | [EXPERT] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
24 annotations · validated 2025-12-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000151 | Aplasia of the uterus | |
| HP:0008726 | Hypoplasia of the vagina | |
| HP:0000786 | Primary amenorrhea | |
| Frequent (79-30%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0000077 | Abnormality of the kidney | |
| HP:0000739 | Anxiety | |
| HP:0000716 | Depression | |
| HP:0030016 | Dyspareunia | |
| Occasional (29-5%) | ||
| HP:0031703 | Abnormal ear morphology | |
| HP:0003312 | Abnormal form of the vertebral bodies | |
| HP:0005107 | Abnormal sacrum morphology | |
| HP:0033511 | Addictive substance use | |
| HP:0010463 | Aplasia of the ovary | |
| HP:0007302 | Bipolar affective disorder | |
| HP:0000086 | Ectopic kidney | |
| HP:0031086 | Ectopic ovary | |
| HP:0030127 | Endometriosis | |
| HP:0000085 | Horseshoe kidney | |
| HP:0000122 | Unilateral renal agenesis | |
| HP:0002948 | Vertebral fusion | |
| HP:0003422 | Vertebral segmentation defect | |
| Very rare (<4-1%) | ||
| HP:0001631 | Atrial septal defect | |
| HP:0000365 | Hearing impairment | |
| HP:0001642 | Pulmonic stenosis | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 32819397[PMID]_39391975[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3109
- This record as JSON: /data/d/3109.json