Infundibulopelvic stenosis - multicystic kidney
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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8
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OrphanetNr:
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1849
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OMIM Id:
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600989
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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:
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Prevalence:
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No data available.
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Inheritance:
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Autosomal dominant inheritance
[Omim]
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Age of onset:
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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Syndromic renal or urinary tract malformation
-Rare developmental defect during embryogenesis
-Rare genetic disease
-Rare renal disease
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1
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(HPO:0002907)
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Microscopic hematuria |
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27 / 7739
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2
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(HPO:0000107)
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Renal cyst |
Very frequent [Orphanet]
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126 / 7739
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3
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(HPO:0000790)
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Hematuria |
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106 / 7739
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4
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(HPO:0000003)
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Multicystic kidney dysplasia |
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17 / 7739
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5
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(HPO:0002027)
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Abdominal pain |
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184 / 7739
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6
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(OMIM)
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Cystic kidneys by renal ultrasonography. |
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1 / 7739
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7
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(OMIM)
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Infundibulopelvic dysgenesis. Multicystic kidney. |
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1 / 7739
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8
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(HPO:0000006)
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Autosomal dominant inheritance |
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2518 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |