ABetaL34V amyloidosis

Orpha code: 324703OMIM code: 605714

Definition

A form of hereditary cerebral hemorrhage with amyloidosis characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline. 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
ABeta amyloidosis, Piedmont type
Amyloidoza zależna od ABetaL34V
Beta amyloidoza, typ piemoncki
Dziedziczny krwotok mózgowy z amyloidozą, typ piemoncki
HCHWA, typ piemoncki
ABetaL34V-related amyloidosis
HCHWA, Piedmont type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
ORPHA code
324703
OMIM code
605714
ICD10 code
I68.0*
ICD11 code
-

No additional description.

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