Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A form of hereditary cerebral hemorrhage with amyloidosis characterized by an age of onset of 50 years of age, dementia and lobar intracerebral hemorrhage. This subtype is due to a mutation in the <i>APP</i> gene (21q21.2), encoding the beta-amyloid precursor protein. This mutation causes an increased accumulation of amyloid-beta protein in the walls of the arteries and capillaries of the meninges, cerebellar cortex and cerebral cortex, leading to the weakening and eventual rupture of these vessels. Disease data Classification Clinical subtype Synonyms ABetaE22K amyloidosis Amyloidoza ABetaE22K Dziedziczny krwotok mózgowy z amyloidozą, typ włoski HCHWA, typ włoski HCHWA, Italian type Hereditary cerebral hemorrhage with amyloidosis, Italian type ORPHA code 324713 OMIM code 605714 ICD10 code E85.4+ ICD11 code - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl