Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Autosomal dominant nephronophthisis |
| Number of Symptoms | 20 |
| OrphanetNr: | 34149 |
| OMIM Id: |
174000
603860 609886 |
| ICD-10: |
Q61.5 |
| 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 dominant [Orphanet] |
| Age of onset: |
Adult [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Familial cystic renal disease
-Rare genetic disease -Rare renal disease |
Symptom Information:
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(HPO:0000127) | Renal salt wasting | 21 / 7739 | ||||
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(HPO:0000092) | Tubular atrophy | 28 / 7739 | ||||
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(HPO:0002048) | Renal cortical atrophy | 3 / 7739 | ||||
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(HPO:0004732) | Impaired renal uric acid clearance | 2 / 7739 | ||||
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(HPO:0000089) | Renal hypoplasia | 78 / 7739 | ||||
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(HPO:0001970) | Tubulointerstitial nephritis | 27 / 7739 | ||||
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(HPO:0000096) | Glomerulosclerosis | 11 / 7739 | ||||
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(HPO:0012213) | Decreased glomerular filtration rate | 21 / 7739 | ||||
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(HPO:0000108) | Renal corticomedullary cysts | 21 / 7739 | ||||
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(HPO:0005583) | Tubular basement membrane disintegration | 18 / 7739 | ||||
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(HPO:0005576) | Tubulointerstitial fibrosis | 32 / 7739 | ||||
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(HPO:0003774) | Stage 5 chronic kidney disease | 78 / 7739 | ||||
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(HPO:0001997) | Gout | 18 / 7739 | ||||
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(HPO:0000822) | Hypertension | 224 / 7739 | ||||
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(HPO:0002615) | Hypotension | 52 / 7739 | ||||
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(HPO:0001903) | Anemia | 289 / 7739 | ||||
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(HPO:0003259) | Elevated serum creatinine | 31 / 7739 | ||||
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(HPO:0003581) | Adult onset | 117 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(HPO:0002120) | Cerebral cortical atrophy | 187 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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