Mayer-Rokitansky-Küster-Hauser syndrome type 1
Synonyms: Congenital absence of uterus and vagina · MRKH syndrome type 1 · Rokitansky sequence
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Adolescent, Antenatal
- Status
- active
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1, a form of MRKH syndrome, is an isolated form of congenital aplasia of the uterus and 2/3 of the vagina occurring in otherwise phenotypically normal females.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mayer-Rokitansky-Küster-Hauser syndrome type 1 | Congenital absence of uterus and vagina · MRKH syndrome type 1 · Rokitansky sequence |
| fr | Syndrome de Mayer-Rokitansky-Küster-Hauser type 1 | Aplasie utéro-vaginale · Syndrome MRKH type 1 · Séquence de Rokitansky |
| de | Mayer-Rokitansky-Küster-Hauser-Syndrom Typ 1 | Kongenitales Fehler von Uterus und Vagina · MRKH-Syndrom Typ 1 · Rokitansky-Sequenz |
| es | Síndrome de Mayer-Rokitansky-Küster-Hauser tipo 1 | Ausencia congénita de útero y vagina · Secuencia de Rokitansky · Síndrome MRKH tipo 1 |
| it | Sindrome di Mayer-Rokitansky-Küster-Hauser tipo 1 | Assenza congenita di utero e vagina · Sequenza di Rokitansky · Sindrome MRKH, tipo 1 |
| nl | Syndroom van Mayer-Rokitansky-Küster-Hauser type 1 | Congenitale afwezigheid van uterus en vagina · MRKH-syndroom type 1 · Rokitansky-sequentie |
| pt | Síndrome Mayer-Rokitansky-Küster-Hauser clássico | Ausência congénita de útero e vagina · Sequência Rokitansky · Síndrome MRKH tipo 1 |
| pl | Zespół Mayera, Rokitansky'ego, Küstera i Hausera typu 1 | Sekwencja Rokitansky'ego · Wrodzony brak macicy i pochwy · Zespół MRKH typu 1 |
| cs | Mayerův-Rokitanského-Küster Hauserův syndrom, typ 1 | MRKH syndrom, typ 1 · Rokitanského sekvence · Vrozená aplázie dělohy a pochvy · Mayer-Rokitansky-Küster Hauserův syndrom, typ 1 |
| uk | Синдром Майєра-Рокітанського-Кюстера-Хаузера, тип 1 | Вроджена відсутність матки та піхви · Синдром MRKH, тип 1 · Послідовність Рокитанського |
| zh | Mayer-Rokitansky-K³ster-Hauser综合征1型 | 先天性无子宫阴道 |
| tr | Mayer-Rokitansky-Küster-Hauser sendromu tip 1 | Rokitansky dizisi · MRKH sendromu tip 1 · Doğumsal uterus ve vajina yokluğu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 277000 | E | validated | |
| ICD-10 | Q51.8 | NTBT | attributed | validated |
| ICD-11 | LB44.Y | NTBT | attributed | validated |
| MONDO | 0010173 | E | validated | |
| UMLS | C5566555 | E | validated | |
| GARD | 4737 | 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 (1):
- 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
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | — | Worldwide | 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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/247775
- This record as JSON: /data/d/247775.json