Bilateral multicystic renal dysplasia
General Information (adopted from Orphanet):
| Synonyms, Signs: |
HYDRONEPHROSIS DUE TO PUJO PELVIURETERIC JUNCTION OBSTRUCTION MCRD MRD PUJO |
| Number of Symptoms | 6 |
| OrphanetNr: | 97364 |
| OMIM Id: |
143400
|
| ICD-10: |
Q61.4 |
| UMLs: |
C1567427 C1840451 |
| MeSH: |
C537373 D021782 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant inheritance [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Multicystic renal dysplasia
-Rare developmental defect during embryogenesis -Rare genetic disease -Rare renal disease |
Symptom Information:
|
|
(HPO:0000072) | Hydroureter | 146 / 7739 | ||||
|
|
(HPO:0000074) | Ureteropelvic junction obstruction | 15 / 7739 | ||||
|
|
(HPO:0008676) | Congenital megaureter | 3 / 7739 | ||||
|
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(HPO:0000126) | Hydronephrosis | 119 / 7739 | ||||
|
|
(OMIM) | Congenital renal sarcoma | 1 / 7739 | ||||
|
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(MedDRA:10037653) | Pyonephrosis | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Clinical Description OMIM |
Cannon (1954) described a curious family in which 5 males in 3 successive generations had unilateral hydronephrosis. MacKay (1945) observed congenital megaloureters with hydronephrosis in 3 sibs (bilateral in 2). Two other sibs were said to have died ... |