ORPHA:2578
Mayer-Rokitansky-Küster-Hauser syndrome type 2
Synonyms: Atypical MRKH syndrome · MRKH syndrome type 2 · MURCS association · Müllerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Adolescent, Antenatal, Neonatal
- Status
- active
A form of Mayer-Rokitansky-Küster-Hauser syndrome, characterized by congenital aplasia of the uterus and upper two-thirds of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mayer-Rokitansky-Küster-Hauser syndrome type 2 | Atypical MRKH syndrome · MRKH syndrome type 2 · MURCS association · Müllerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome |
| fr | Syndrome de Mayer-Rokitansky-Küster-Hauser type 2 | Association MURCS · Syndrome MRKH atypique · Syndrome MRKH type 2 · Syndrome d'aplasie müllérienne-aplasie rénale-anomalies cervicothoraciques |
| de | Mayer-Rokitansky-Küster-Hauser-Syndrom Typ 2 | Atypisches MRKH-Syndrom · MRKH-Syndrom Typ 2 · MURCS-Assoziation · Müller-Gang-Aplasie - Nierenaplasie - Dysplasie der zerviko-thorakalen Somiten |
| es | Síndrome de Mayer-Rokitansky-Küster-Hauser tipo 2 | Asociación MURCS · Síndrome MRKH tipo 2 · Síndrome de MRKH atípico · Síndrome de aplasia del conducto mülleriano-displasia renal-anomalías de los somitas cervicales |
| it | Sindrome di Mayer-Rokitansky-Küster-Hauser, tipo 2 | Associazione MURCS · Sindrome MRKH atipica · Sindrome MRKH, tipo 2 · Sindrome aplasia dei dotti mülleriani-displasia renale-anomalie dei somiti cervicali |
| nl | Syndroom van Mayer-Rokitansky-Küster-Hauser type 2 | Aplasie van gang van Müller - nierdysplasie - anomalieën van cervicale somieten-syndroom · Atypisch MRKH-syndroom · MRKH-syndroom type 2 · MURCS-associatie |
| pt | Síndrome Mayer-Rokitansky-Küster-Hauser tipo 2 | Associação MURCS · Síndrome MRKH tipo 2 · Síndrome de aplasia dos ducto müllerianos-displasia renal-anomalias dos sómitos cervicais |
| pl | Zespół Mayera, Rokitansky'ego, Küstera i Hausera typu 2 | Asocjacja MURCS · Atypowy zespół MRKH · Zespół aplazji przewodów Mulleria, dysplazji nerek i anomalii somitów szyjnych · Zespół MRKH typu 2 |
| cs | Mayerův-Rokitanského-Küsterův-Hauserův syndrom, typ 2 | Atypický MRKH syndrom · MRKH syndrom, typ 2 · MURCS asociace · Syndrom zahrnující aplázii Mulleriánského duktu, renální dysplázii a anomálii krčních somitů · Mayer-Rokitansky-Küster-Hauserův syndrom, typ 2 |
| uk | Синдром Майєра-Рокітанського-Кюстера-Хаузера, тип 2 | Атиповий синдром МРКГ · Синдром MRKH типу 2 · Аплазія Мюллерової протоки - дисплазія нирок - синдром аномалій сомітів шийки матки · Асоціація MURCS |
| zh | Mayer-Rokitansky-Küster-Hauser综合征2型 | Müllerian小管发育不良-肾脏发育异常-颈节异常综合征 |
| tr | Mayer-Rokitansky-Küster-Hauser sendromu tip 2 | MURCS asosiasyonu · MRKH sendromu tip 2 · Atipik MRKH sendromu · Müllerian kanal aplazisi-renal displazi-servikal somit anomalileri sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601076 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.14 | E | specific | validated |
| MONDO | 0010989 | E | validated | |
| UMLS | C4305568 | E | validated | |
| GARD | 5513 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:3109Mayer-Rokitansky-Küster-Hauser syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital diseases; rare renal diseases; rare infertility disorders; rare gynecological and obstetric diseases; rare transplant-related disorders - ORPHA:117573Syndromic anorectal malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases; rare transplant-related disorders
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:1092Renal-genital-middle ear anomalies moved to · inactive
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HNF1B | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:11630 | ENSG00000275410 | 189907 | 17q12 | HNF1 homeobox B | 36282544[PMID] |
| WNT4 | Disease-causing germline mutation(s) in | Assessed | HGNC:12783 | ENSG00000162552 | 603490 | 1p36.12 | Wnt family member 4 | 18182450[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 1 / 100 000 | Europe | Value and class | Not yet validated | 19821675[PMID] |
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
12 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008684 | Aplasia/hypoplasia of the uterus | |
| HP:0000027 | Azoospermia | |
| HP:0000813 | Bicornuate uterus | |
| HP:0000086 | Ectopic kidney | |
| HP:0002162 | Low posterior hairline | |
| HP:0000104 | Renal agenesis | |
| HP:0000110 | Renal dysplasia | |
| HP:0000470 | Short neck | |
| HP:0004322 | Short stature | |
| Frequent (79-30%) | ||
| HP:0000772 | Abnormal rib morphology | |
| HP:0003422 | Vertebral segmentation defect | |
| Occasional (29-5%) | ||
| HP:0000365 | Hearing impairment | |
Run the differential on the 9 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2578
- This record as JSON: /data/d/2578.json