Details of Disease | DrugMAP

General Information of Disease (ID: DISJYQ0R)

Disease Name	Intracranial berry aneurysm
Synonyms	familial cerebral saccular aneurysm; familial intracranial saccular aneurysm; familial aneurysmal subarachnoid haemorrhage; saccular cerebral aneurysm; aneurysm, intracranial berry; familial aneurysmal subarachnoid hemorrhage; familial berry aneurysm
Definition	An intracranial aneurysm with a characteristic rounded shape; the most common form of cerebral aneurysm.
Disease Hierarchy	DISD715V: Hereditary neurological disease DISHNW1R: Brain aneurysm DISJYQ0R: Intracranial berry aneurysm
Disease Identifiers	MONDO ID MONDO_0016483 UMLS CUI C3839866 MedGen ID 825711 Orphanet ID 231160 SNOMED CT ID 703226008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ANGPTL6	OTOQ5W67	Supportive	Autosomal dominant	[1]
THSD1	OTKPGFHS	Supportive	Autosomal dominant	[2]
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References

1	Rare Coding Variants in ANGPTL6 Are Associated with Familial Forms of Intracranial Aneurysm. Am J Hum Genet. 2018 Jan 4;102(1):133-141. doi: 10.1016/j.ajhg.2017.12.006.
2	THSD1 (Thrombospondin Type 1 Domain Containing Protein 1) Mutation in the Pathogenesis of Intracranial Aneurysm and Subarachnoid Hemorrhage. Stroke. 2016 Dec;47(12):3005-3013. doi: 10.1161/STROKEAHA.116.014161. Epub 2016 Nov 15.