Renal caliceal diverticuli - deafness
General Information (adopted from Orphanet):
| Synonyms, Signs: |
|
| Number of Symptoms | 4 |
| OrphanetNr: | 2838 |
| OMIM Id: |
|
| ICD-10: |
|
| UMLs: |
|
| MeSH: |
|
| MedDRA: |
|
| Snomed: |
|
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant inheritance |
| Age of onset: |
|
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Syndromic genetic deafness
-Rare developmental defect during embryogenesis -Rare genetic disease -Rare otorhinolaryngologic disease Syndromic renal or urinary tract malformation -Rare developmental defect during embryogenesis -Rare genetic disease -Rare renal disease |
Symptom Information:
|
|
(HPO:0000069) | Abnormality of the ureter | Occasional [Orphanet] | 47 / 7739 | |||
|
|
(HPO:0000072) | Hydroureter | Occasional [Orphanet] | 146 / 7739 | |||
|
|
(HPO:0000079) | Abnormality of the urinary system | Very frequent [Orphanet] | 88 / 7739 | |||
|
|
(HPO:0000407) | Sensorineural hearing impairment | Very frequent [Orphanet] | 524 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|