Familial cerebral saccular aneurysm
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Familial berry aneurysm Familial intracranial saccular aneurysm |
| Number of Symptoms | 3 |
| OrphanetNr: | 231160 |
| OMIM Id: |
105800
300870 608542 609122 610213 611892 612161 612162 612586 612587 614252 |
| 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 Autosomal recessive [Orphanet] |
| Age of onset: |
All ages [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic central nervous system and retinal vascular disease
-Rare genetic disease Rare central nervous system and retinal vascular disease -Rare neurologic disease |
Symptom Information:
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(HPO:0002170) | Intracranial hemorrhage | 40 / 7739 | ||||
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(HPO:0004944) | Cerebral aneurysm | 12 / 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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