ABeta amyloidosis, Italian type

Orpha code: 324713OMIM code: 605714

Definicja

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
Klasyfikacja

Clinical subtype

Synonimy
ABetaE22K amyloidosis
Amyloidoza ABetaE22K
Dziedziczny krwotok mózgowy z amyloidozą, typ włoski
HCHWA, typ włoski
HCHWA, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Kod ORPHA
324713
Kod OMIM
605714
Kod ICD10
E85.4+
Kod ICD11
-

No additional description.

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