Familial cerebral saccular aneurysm

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Familial cerebral saccular aneurysm

ORPHA:231160Disease

Also called Familial berry aneurysm · Familial intracranial saccular aneurysm

What it is

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.

Key facts

Age of onset
All ages
Inheritance
Autosomal dominant, Autosomal recessive
Classified as
Disease

Signs and symptoms

These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.

Genes

ANGPTL6Disease-causing germline mutation(s) (loss of function)
ENGMajor susceptibility factor
THSD1Disease-causing germline mutation(s)
COL3A1Candidate gene tested
TGFBR3Candidate gene tested

ICD-10 codes

I67.1filed under a broader ICD-10 category

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references

MONDO 16483OMIM 105800OMIM 300870OMIM 608542OMIM 609122OMIM 610213OMIM 611892OMIM 612161OMIM 612162OMIM 612586OMIM 612587OMIM 614252OMIM 618734UMLS C3839866

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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