疾病条目id

DI-00102

基因病名称(英)

Amyloidosis 6

基因病名称

淀粉样变性 6

关键字(英)

Amyloidosis

关键字

淀粉样变性

别名(英)

ACys,CAA,Cerebral amyloid angiopathy,Cerebral amyloid angiopathy CST3-related,Cerebroarterial amyloidosis Icelandic type,Cystatin C amyloidosis,HCCAA,HCHWA,HCHWAI,HCHWA-I,Hereditary cerebral hemorrhage with amyloidosis,Hereditary cerebral hemorrhage with amyloidosis Icelandic type,Hereditary cystatin C amyloid angiopathy

别名

ACys,CAA,脑淀粉样血管病,脑淀粉样血管病 CST3 相关,脑动脉淀粉样变性冰岛型,Cystatin C 淀粉样变性,HCCAA,HCHWA,HCHWAI,HCHWA-I,遗传性脑出血伴淀粉样变性,遗传性脑出血伴淀粉样变性冰岛型,遗传性胱抑素淀粉样血管病

统计

reviewed:1; annotated:0

交叉引用

105150,C0085220,C1510489,C1527338,D028243

助记符

AMYL6

描述(英)

A hereditary generalized amyloidosis due to cystatin C amyloid deposition. Cystatin C amyloid accumulates in the walls of arteries, arterioles, and sometimes capillaries and veins of the brain, and in various organs including lymphoid tissue, spleen, salivary glands, and seminal vesicles. Amyloid deposition in the cerebral vessels results in cerebral amyloid angiopathy, cerebral hemorrhage and premature stroke. Cystatin C levels in the cerebrospinal fluid are abnormally low.

描述

由胱抑素 C 淀粉样蛋白沉积引起的遗传性全身性淀粉样变性。胱抑素 C 淀粉样蛋白积聚在脑的动脉、小动脉和有时毛细血管和静脉的壁中，以及包括淋巴组织、脾脏、唾液腺和精囊在内的各种器官中。脑血管中的淀粉样蛋白沉积导致脑淀粉样蛋白血管病、脑出血和过早中风。脑脊液中的胱抑素 C 水平异常低。