Cerebral Cavernous Malformations (CCM)

脑海绵状血管瘤(来自ICD-11)

别称:

Cerebral Cavernous Malformation

Cavernous Malformations of Cns and Retina

Cerebral Cavernous Malformation 1

Cavernous Angiomatous Malformations

Cerebral Capillary Malformations

Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated with Cerebral Capillary Malformations

Central Nervous System Cavernous Hemangioma

Familial Cerebral Cavernous Malformation

Cerebral Cavernous Malformations 1

Familial Cavernous Angioma

Ccm

Hemangioma, Cavernous, Central Nervous System

Cerebral Cavernous Malformations, Type 1

Familial Cerebral Cavernous Angioma

Cerebral Cavernous Malformations-1

Intracerebral Cavernous Hemangioma

Cavernous Hemangioma of the Brain

Familial Cavernous Malformation

Familial Cavernous Hemangioma

Cerebral Cavernous Hemangioma

Cavernous Angioma, Familial

Hemangioma, Cavernous

Cerebral Cavernoma

Angioma, Cavernous

Cavernous Angioma

Cavernoma

Ccm1

Cam

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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

脑静脉畸形，也称为脑静脉畸形，与脑静脉畸形2和脑静脉畸形3有关。与脑静脉畸形相关的基因是KRIT1（KRIT1 Ankyrin Repeat Containing），其相关通路/超级通路包括胚胎和诱导多能干细胞和特异性标记物和血管生成（CST）。在该疾病的背景下提到了普萘洛尔和阿托伐他汀。附属组织包括脊髓和大脑，相关表型为癫痫和脑钙化。

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