Mayer-Rokitansky-Küster-Hauser syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
MRKH syndrome Rokitansky syndrome |
| Number of Symptoms | 5 |
| OrphanetNr: | 3109 |
| OMIM Id: |
158330
277000 601076 |
| ICD-10: |
Q51.8 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
10065148 |
| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 11 of 100 000 [Orphanet] |
| Inheritance: |
Autosomal dominant Not applicable [Orphanet] |
| Age of onset: |
Antenatal Adolescent [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Partial bilateral aplasia of the Müllerian duct
-Rare developmental defect during embryogenesis -Rare genetic disease -Rare gynecologic or obstetric disease -Rare urogenital disease Syndromic renal or urinary tract malformation -Rare developmental defect during embryogenesis -Rare genetic disease -Rare renal disease |
Symptom Information:
|
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(HPO:0008678) | Renal hypoplasia/aplasia | Occasional [Orphanet] | 127 / 7739 | |||
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(HPO:0000130) | Abnormality of the uterus | Very frequent [Orphanet] | 86 / 7739 | |||
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(HPO:0100542) | Abnormal localization of kidney | Occasional [Orphanet] | 64 / 7739 | |||
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(HPO:0003312) | Abnormal form of the vertebral bodies | Occasional [Orphanet] | 172 / 7739 | |||
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(HPO:0005107) | Abnormality of the sacrum | Occasional [Orphanet] | 18 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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