ABeta amyloidosis, Italian type

Orpha code: 324713OMIM code: 605714

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
-

No additional description.

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