OPTICOACOUSTIC NERVE ATROPHY WITH DEMENTIA
General Information (adopted from Orphanet):
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Synonyms, Signs:
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JENSEN SYNDROME
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Number of Symptoms
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9
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OrphanetNr:
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OMIM Id:
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311150
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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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X-linked 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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No data available.
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1
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(HPO:0000618)
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Blindness |
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124 / 7739
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2
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(HPO:0000648)
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Optic atrophy |
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238 / 7739
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3
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(HPO:0008610)
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Infantile sensorineural hearing impairment |
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1 / 7739
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4
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(HPO:0000726)
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Dementia |
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131 / 7739
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5
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(HPO:0002514)
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Cerebral calcification |
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89 / 7739
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6
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(HPO:0003700)
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Generalized amyotrophy |
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39 / 7739
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7
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(OMIM)
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Moderate diffuse skeletal muscle wasting |
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1 / 7739
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8
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(HPO:0001417)
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X-linked inheritance |
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173 / 7739
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9
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(OMIM)
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Extensive CNS calcification in all structures, including meninges, vessels, and neurons at autopsy |
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1 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |