Mayer-rokitansky-kuster-hauser syndrome

Preferred Label : Mayer-rokitansky-kuster-hauser syndrome;

Symbol : MRKH;

CISMeF acronym : CAUV;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Mrkh syndrome; Mullerian aplasia/dysgenesis; Von mayer-rokitansky-kuster anomaly; Mrkh anomaly; Mrk anomaly; Uterus bipartitus solidus rudimentarius cum vagina solida; Congenital absence of uterus and vagina; CAUV;

Included titles and symbols : Urogenital adysplasia;

Description : Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) is characterized by utero-vaginal atresia in an otherwise phenotypically normal female with a normal 46,XX karyotype. Anomalies of the genital tract range from upper vaginal atresia to total mullerian agenesis with urinary tract abnormalities. It has an incidence of approximately 1 in 5,000 newborn girls (Cheroki et al., 2006). The abnormality of sexual development in MRKH syndrome is the same as that in the MURCS association (601076), in which cervicothoracic somite anomalies, unilateral renal agenesis, and conductive deafness are also seen. Mullerian aplasia and hyperandrogenism (158330) is caused by mutation in the WNT4 gene (603490). Familial cases of unilateral or bilateral renal agenesis in combination with mullerian anomalies have also been reported (see urogenital adysplasia, 191830).;

Inheritance : Autosomal dominant;

Prefixed ID : %277000;

Details

Origin ID

277000;

UMLS CUI

C0431648;

Automatic exact mappings (from CISMeF team)
- Urogenital adysplasia [MeSH concept]
- urogenital adysplasia [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Mayer-Rokitansky-Kuster-Hauser Syndrome [NCIt concept]
- Mayer-Rokitansky-Kuster-Hauser syndrome [MedDRA Preferred Term]
- Mayer-Rokitansky-Küster-Hauser syndrome [ORDO Disease]
- Mayer-Rokitansky-Küster-Hauser syndrome type 1 [ORDO Disease]
- Mullerian agenesis [ICD-11 More detail]
- Rokitansky Kuster Hauser syndrome [MeSH concept]
- Rokitansky sequence (disorder) [SNOMED CT concept]
- Rokitansky-Kuster-Hauser syndrome [PASCAL descriptor]
- mullerian aplasia [MeSH Supplementary Concept]
- rokitansky sequence [SNOMED Notion]
HPO term(s)
- Amenorrhea [HPO term]
- Aplasia of the vagina [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Hypoplasia of the uterus [HPO term]
Not associated HPO term(s)
- Abnormal external genitalia [HPO term]
ORDO concept(s)
- Mayer-Rokitansky-Küster-Hauser syndrome [ORDO Disease]
- Mayer-Rokitansky-Küster-Hauser syndrome type 1 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mayer-Rokitansky-Kuster-Hauser Syndrome [NCIt concept]
- Mayer-Rokitansky-Kuster-Hauser syndrome [MedDRA Preferred Term]
- Mayer-Rokitansky-Küster-Hauser syndrome [ORDO Disease]
- Mayer-Rokitansky-Küster-Hauser syndrome type 1 [ORDO Disease]
- Rokitansky Kuster Hauser syndrome [MeSH concept]
- Rokitansky sequence [MeSH concept]
- Rokitansky sequence (disorder) [SNOMED CT concept]
- rokitansky sequence [SNOMED Notion]

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