Familial cerebral saccular aneurysm
Synonyms: Familial berry aneurysm · Familial intracranial saccular aneurysm
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- All ages
- Status
- active
A rare genetic neurovascular malformation characterized by sac-like bulging of cerebral arteries due to weakening of the endothelial layer. Familial occurrence is suspected when two or more affected first- to third-degree relatives are present in a family. Aneurysms may remain asymptomatic throughout life, or rupture and thereby cause potentially life-threatening subarachnoid hemorrhage. Patients with familial cerebral saccular aneurysm are more likely to develop more than one brain aneurysm, are at greater risk of rupture, and tend to have poorer outcome after rupture than patients with sporadic cerebral aneurysms.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial cerebral saccular aneurysm | Familial berry aneurysm · Familial intracranial saccular aneurysm |
| fr | Anévrysme intracrânien sacculaire, forme familiale | Anévrysme cérébral sacculaire familial · Anévrysme en baies familial |
| de | Familiäres zerebrales sakkuläres Aneurysma | Aneurysma, intrakranielles sakkuläres, familiäre Form · Beerenaneurysma, familiäres |
| es | Aneurisma cerebral sacular familiar | Aneurisma en baya familiar · Aneurisma sacular intracraneal familiar |
| it | Aneurisma sacculare cerebrale familiare | Aneurisma familiare a bacca · Aneurisma sacculare intracranico familiare |
| nl | Familiaal cerebraal sacculair aneurysma | Familiaal besaneurysma · Familiaal intracranieel sacculair aneurysma |
| pt | Aneurisma sacular familiar | |
| pl | Rodzinny tętniak woreczkowaty mózgu | Rodzinny tętniak w kształcie jagody · Rodzinny wewnatrzczaszkowy tetniak woreczkowaty |
| cs | Familiární cerebrální sakulární aneuryzma | Familiární bobulovité aneuryzma · Familiární intrakraniální sakulární aneuryzma |
| uk | Сімейна мішкоподібна аневризма головного мозку | Сімейна ягідна аневризма · Сімейна внутрішньочерепна мішкоподібна аневризма |
| zh | 家族性大脑囊状动脉瘤 | 家族性颅内囊状动脉瘤 |
| tr | Ailesel serebral saküler anevrizma | Ailesel berry anevrizması · Ailesel intrakraniyal sakküler anevrizma |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 105800 | E | validated | |
| OMIM | 300870 | BTNT | validated | |
| OMIM | 608542 | BTNT | validated | |
| OMIM | 609122 | BTNT | validated | |
| OMIM | 610213 | BTNT | validated | |
| OMIM | 611892 | BTNT | validated | |
| OMIM | 612161 | BTNT | validated | |
| OMIM | 612162 | BTNT | validated | |
| OMIM | 612586 | BTNT | validated | |
| OMIM | 612587 | BTNT | validated | |
| OMIM | 614252 | BTNT | validated | |
| OMIM | 618734 | BTNT | validated | |
| ICD-10 | I67.1 | NTBT | attributed | validated |
| ICD-11 | 8B22.6 | E | specific | validated |
| MONDO | 16483 | E | validated | |
| UMLS | C3839866 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:371436Genetic neurovascular malformation
rare genetic diseases - ORPHA:102006Neurovascular malformation
rare neurological diseases
No children.
Genes
5 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| COL3A1 | Candidate gene tested in | Not yet assessed | HGNC:2201 | ENSG00000168542 | 120180 | 2q32.2 | collagen type III alpha 1 chain | 22241462[PMID] |
| TGFBR3 | Candidate gene tested in | Not yet assessed | HGNC:11774 | ENSG00000069702 | 600742 | 1p22.1 | transforming growth factor beta receptor 3 | 19299629[PMID] |
| ANGPTL6 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:23140 | ENSG00000130812 | 609336 | 19p13.2 | angiopoietin like 6 | 29304371[PMID] |
| THSD1 | Disease-causing germline mutation(s) in | Assessed | HGNC:17754 | ENSG00000136114 | 616821 | 13q14.3 | thrombospondin type 1 domain containing 1 | 27895300[PMID] |
| ENG | Major susceptibility factor in | Assessed | HGNC:3349 | ENSG00000106991 | 131195 | 9q34.11 | endoglin | 19299629[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
| Annual incidence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
15 annotations · validated 2018-01-15| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0007029 | Cerebral berry aneurysm | |
| Frequent (79-30%) | ||
| HP:0002363 | Abnormal brainstem morphology | |
| HP:0012518 | Abnormality of circle of Willis | |
| HP:0002621 | Atherosclerosis | |
| HP:0001269 | Hemiparesis | |
| HP:0000822 | Hypertension | |
| HP:0001250 | Seizure | |
| HP:0002326 | Transient ischemic attack | |
| HP:0001123 | Visual field defect | |
| Occasional (29-5%) | ||
| HP:0002647 | Aortic dissection | |
| HP:0002616 | Aortic root aneurysm | |
| HP:0040197 | Encephalomalacia | |
| HP:0002170 | Intracranial hemorrhage | |
| HP:0012246 | Oculomotor nerve palsy | |
| HP:0002138 | Subarachnoid hemorrhage | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 16736093[PMID]_24646873[PMID]_23054244[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/231160
- This record as JSON: /data/d/231160.json