Distal renal tubular acidosis
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Renal tubular acidosis type 1 Familial distal primary acidosis dRTA |
| Number of Symptoms | 9 |
| OrphanetNr: | 18 |
| OMIM Id: |
179800
267300 602722 611590 |
| ICD-10: |
N25.8 |
| UMLs: |
C0259810 |
| MeSH: |
|
| MedDRA: |
10045224 |
| Snomed: |
236461000 86210009 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant Autosomal recessive Not applicable [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Primary renal tubular acidosis
-Rare genetic disease -Rare renal disease |
Symptom Information:
|
|
(HPO:0001947) | Renal tubular acidosis | 21 / 7739 | ||||
|
|
(HPO:0000121) | Nephrocalcinosis | 57 / 7739 | ||||
|
|
(HPO:0003768) | Periodic paralysis | 9 / 7739 | ||||
|
|
(HPO:0008153) | Periodic hypokalemic paresis | 4 / 7739 | ||||
|
|
(HPO:0002756) | Pathologic fracture | 30 / 7739 | ||||
|
|
(HPO:0002749) | Osteomalacia | 24 / 7739 | ||||
|
|
(HPO:0008897) | Postnatal growth retardation | 113 / 7739 | ||||
|
|
(HPO:0002901) | Hypocalcemia | 56 / 7739 | ||||
|
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|