Medullary sponge kidney
General Information (adopted from Orphanet):
| Synonyms, Signs: |
MSK Cacchi-Ricci disease Precalicial canalicular ectasia |
| Number of Symptoms | 4 |
| OrphanetNr: | 1309 |
| OMIM Id: |
|
| ICD-10: |
Q61.5 |
| UMLs: |
C0022681 |
| MeSH: |
D007691 |
| MedDRA: |
10027104 |
| Snomed: |
236443009 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant 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:0000124) | Renal tubular dysfunction | Frequent [Orphanet] | 46 / 7739 | |||
|
|
(HPO:0000787) | Nephrolithiasis | Very frequent [Orphanet] | 78 / 7739 | |||
|
|
(HPO:0002150) | Hypercalciuria | Frequent [Orphanet] | 45 / 7739 | |||
|
|
(HPO:0004325) | Decreased body weight | Occasional [Orphanet] | 492 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|