Multicystic renal dysplasia
General Information (adopted from Orphanet):
Synonyms, Signs: |
|
Number of Symptoms | 13 |
OrphanetNr: | 1851 |
OMIM Id: |
143400
601331 |
ICD-10: |
Q61.4 |
UMLs: |
C0345335 |
MeSH: |
D021782 |
MedDRA: |
|
Snomed: |
204962002 |
Prevalence, inheritance and age of onset:
Prevalence: | No data available. |
Inheritance: |
|
Age of onset: |
|
Disease classification (adopted from Orphanet):
Parent Diseases: |
Genetic nonsyndromic renal or urinary tract malformation
-Rare genetic disease Nonsyndromic renal or urinary tract malformation -Rare developmental defect during embryogenesis -Rare renal disease |
Symptom Information:
|
(HPO:0008663) | Renal sarcoma | 1 / 7739 | ||||
|
(HPO:0000083) | Renal insufficiency | rare [HPO:skoehler] | 232 / 7739 | |||
|
(HPO:0008676) | Congenital megaureter | 3 / 7739 | ||||
|
(HPO:0000072) | Hydroureter | 146 / 7739 | ||||
|
(HPO:0000110) | Renal dysplasia | 44 / 7739 | ||||
|
(HPO:0000800) | Cystic renal dysplasia | 31 / 7739 | ||||
|
(HPO:0000074) | Ureteropelvic junction obstruction | 15 / 7739 | ||||
|
(HPO:0000089) | Renal hypoplasia | 78 / 7739 | ||||
|
(HPO:0000126) | Hydronephrosis | 119 / 7739 | ||||
|
(HPO:0000003) | Multicystic kidney dysplasia | 17 / 7739 | ||||
|
(HPO:0000100) | Nephrotic syndrome | 83 / 7739 | ||||
|
(HPO:0030157) | Flank pain | 5 / 7739 | ||||
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
---|