ACys amyloidosis

Orpha code: 100008OMIM code: 105150

Definition

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 <i>CST3</i> gene (20p11.2), encoding the precursor protein cystatin C.

Disease data
Classification

Clinical subtype

Synonyms
CST3-related amyloidosis
Amyloidoza cystatynowa
Amyloidoza zależna od CST3
Dziedziczna angiopatia amyloidowa zależna od cystatyny C
Dziedziczny krwotok mózgowy z amyloidozą, typ islandzki
HCHWA, typ islandzki
Cystatin amyloidosis
HCHWA, Icelandic type
Hereditary cerebral hemorrhage with amyloidosis, Icelandic type
Hereditary cystatin C amyloid angiopathy
ORPHA code
100008
OMIM code
105150
ICD10 code
I68.0*
ICD11 code
-

No additional description.

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