SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND DEMENTIA
General Information (adopted from Orphanet):
Synonyms, Signs: |
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Number of Symptoms | 6 |
OrphanetNr: | |
OMIM Id: |
182830
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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: | No data available. |
Inheritance: |
Autosomal dominant [Omim] |
Age of onset: |
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Disease classification (adopted from Orphanet):
Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0001133) | Constriction of peripheral visual field | 33 / 7739 | ||||
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(HPO:0000648) | Optic atrophy | 238 / 7739 | ||||
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(HPO:0000543) | Optic disc pallor | 67 / 7739 | ||||
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(HPO:0000726) | Dementia | 131 / 7739 | ||||
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(HPO:0001258) | Spastic paraplegia | 97 / 7739 | ||||
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(OMIM) | Early dementia | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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