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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
罕见病
Cerebral Cavernous Malformations (CCM)
Alias:
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。
Related ID:
MALACARDS:CRB048
OMIM:116860
MESH:D020786
ICD11:916773262
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
--
44
401
90
CRB048
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
#
Gene
Function
Score
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
No data available
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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