RENAL TUBULAR ACIDOSIS III
General Information (adopted from Orphanet):
Synonyms, Signs: |
RTA, DISLOCATION TYPE RTA, BICARBONATE-WASTING TYPE |
Number of Symptoms | 9 |
OrphanetNr: | |
OMIM Id: |
267200
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ICD-10: |
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UMLs: |
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MeSH: |
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MedDRA: |
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Snomed: |
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Prevalence, inheritance and age of onset:
Prevalence: | No data available. |
Inheritance: |
Autosomal recessive inheritance [Omim] |
Age of onset: |
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Disease classification (adopted from Orphanet):
Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0004910) | Bicarbonate-wasting renal tubular acidosis | 3 / 7739 | ||||
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(HPO:0000121) | Nephrocalcinosis | 57 / 7739 | ||||
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(HPO:0000787) | Nephrolithiasis | 78 / 7739 | ||||
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(HPO:0003768) | Periodic paralysis | 9 / 7739 | ||||
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(HPO:0002749) | Osteomalacia | 24 / 7739 | ||||
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(HPO:0002748) | Rickets | 41 / 7739 | ||||
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(HPO:0002900) | Hypokalemia | 45 / 7739 | ||||
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(OMIM) | Nephrocalcinosis by abdominal x-ray | 1 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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