Early-onset autosomal dominant Alzheimer disease
General Information (adopted from Orphanet):
| Synonyms, Signs: |
EOFAD Early-onset familial autosomal dominant Alzheimer disease Familial Alzheimer disease |
| Number of Symptoms | 7 |
| OrphanetNr: | 1020 |
| OMIM Id: |
104300
104310 602096 605055 605526 606187 606889 607116 607822 608907 609636 609790 611073 611152 611154 611155 |
| ICD-10: |
G30.0 |
| 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 [Orphanet] |
| Age of onset: |
Adult [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic neurodegenerative disease
-Rare genetic disease Genetic neurodegenerative disease with dementia -Rare genetic disease Neurodegenerative disease with dementia -Rare neurologic disease |
Symptom Information:
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(HPO:0001300) | Parkinsonism | 75 / 7739 | ||||
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(HPO:0002511) | Alzheimer disease | 10 / 7739 | ||||
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(HPO:0000726) | Dementia | 131 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(HPO:0002423) | Long-tract signs | 7 / 7739 | ||||
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(HPO:0002185) | Neurofibrillary tangles | 14 / 7739 | ||||
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(HPO:0001425) | Heterogeneous | 132 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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