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Амілоїдоз ACys

ORPHA:100008· ICD-10 E85.4+· ACys amyloidosis

Визначення(English summary)

A form of hereditary cerebral hemorrhage with amyloidosis characterized by an age of onset of 20-30 years, major systemic amyloidosis and recurrent lobar intracerebral hemorrhages. Unlike other forms of hereditary cerebral hemorrhage with amyloidosis, this subtype is due to a mutation in the CST3 gene (20p11.2), encoding the precursor protein cystatin C.

Поширеність
<1 / 1 000 000
Успадкування
Autosomal dominant
Вік початку
Adolescent, Adult