Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
General Information (adopted from Orphanet):
| Synonyms, Signs: |
PKDTS tuberous sclerosis/polycystic kidney disease contiguous gene syndrome CHROMOSOME 16p13.3 DELETION SYNDROME, DISTAL |
| Number of Symptoms | 7 |
| OrphanetNr: | 88924 |
| OMIM Id: |
600273
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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: | 30 cases [Orphanet] |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Familial cystic renal disease
-Rare genetic disease -Rare renal disease Partial deletion of the short arm of chromosome 16 -Rare developmental defect during embryogenesis -Rare genetic disease |
Symptom Information:
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(HPO:0000113) | Polycystic kidney dysplasia | 75 / 7739 | ||||
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(HPO:0006772) | Renal angiomyolipoma | 4 / 7739 | ||||
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(HPO:0009717) | Cortical tubers | 4 / 7739 | ||||
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(OMIM) | Multitudinous variably sized renal cysts | 1 / 7739 | ||||
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(MedDRA:10045138) | Tuberous sclerosis | 1 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(OMIM) | Infantile polycystic kidneys | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
In a small but well-documented minority of patients with tuberous sclerosis (see 191100), a striking clinical picture of enlarged and polycystic kidneys has been recognized at birth or shortly thereafter (Wenzl et al., 1970; O'Callaghan et al., 1975; ... |