PRESENILIN 1
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 6 |
| OrphanetNr: | |
| OMIM Id: |
104311
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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: |
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| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0001300) | Parkinsonism | 75 / 7739 | ||||
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(HPO:0000726) | Dementia | 131 / 7739 | ||||
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(HPO:0003593) | Infantile onset | 249 / 7739 | ||||
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(HPO:0002185) | Neurofibrillary tangles | 14 / 7739 | ||||
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(HPO:0002423) | Long-tract signs | 7 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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