ABetaA21G amyloidosis

Orpha code: 324718OMIM code: 605714

Definicja

A form of hereditary cerebral hemorrhage with amyloidosis characterized by an age of onset of 45 years of age, progressive Alzheimer's disease-like dementia, and lobar intracerebral hemorrhage in some patients. 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
ABeta amyloidosis, Flemish type
Amyloidoza zależna od ABetaA21G
Beta amyloidoza, typ flamandzki
Dziedziczny krwotok mózgowy z amyloidozą, typ flamandzki
HCHWA, typ flamandzki
ABetaA21G-related amyloidosis
HCHWA, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Kod ORPHA
324718
Kod OMIM
605714
Kod ICD10
I68.0*
Kod ICD11
-

No additional description.

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