Rokitansky–Mayer–Küster–Hauser syndrome
GPTKB entity
Statements (32)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
syndrome |
| gptkbp:affects |
female reproductive system
|
| gptkbp:alsoKnownAs |
MRKH syndrome
|
| gptkbp:associatedWith |
renal anomalies
skeletal anomalies |
| gptkbp:cause |
primary amenorrhea
|
| gptkbp:characterizedBy |
underdevelopment or absence of the uterus
underdevelopment or absence of the upper part of the vagina |
| gptkbp:chromosomalKaryotype |
46,XX
|
| gptkbp:diagnosedBy |
clinical examination
imaging studies |
| gptkbp:externalGenitalia |
normal
|
| gptkbp:fertility |
affected individuals cannot carry a pregnancy
|
| gptkbp:firstDescribed |
gptkb:Carl_von_Rokitansky
Georg Hauser Hermann Küster August Franz Joseph Karl Mayer |
| https://www.w3.org/2000/01/rdf-schema#label |
Rokitansky–Mayer–Küster–Hauser syndrome
|
| gptkbp:ICD-10_code |
Q51.0
|
| gptkbp:inheritance |
sporadic
autosomal dominant with incomplete penetrance |
| gptkbp:OMIM |
277000
|
| gptkbp:onset |
puberty
|
| gptkbp:ovarianFunction |
normal
|
| gptkbp:prevalence |
1 in 4,500 female births
|
| gptkbp:symptom |
absence of menstruation
short vagina |
| gptkbp:treatment |
vaginal dilation
surgical creation of a neovagina |
| gptkbp:bfsParent |
gptkb:Karl_von_Rokitansky
|
| gptkbp:bfsLayer |
7
|