Adult familial nephronophtisis - spastic quadriparesia
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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5
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OrphanetNr:
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2666
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OMIM Id:
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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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2
cases
[Orphanet]
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Inheritance:
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Unknown
[Orphanet]
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Age of onset:
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Adult
[Orphanet]
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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Familial cystic renal disease
-Rare genetic disease
-Rare renal disease
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1
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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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2
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(HPO:0000124)
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Renal tubular dysfunction |
Very frequent [Orphanet]
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46 / 7739
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3
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(HPO:0000083)
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Renal insufficiency |
Very frequent [Orphanet]
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232 / 7739
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4
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(HPO:0004374)
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Hemiplegia/hemiparesis |
Very frequent [Orphanet]
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158 / 7739
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5
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(HPO:0002334)
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Abnormality of the cerebellar vermis |
Very frequent [Orphanet]
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137 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |