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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
Creutzfeldt-Jakob Disease (CJD)
Alias:
Variant Creutzfeldt-Jakob Disease
Inherited Creutzfeldt-Jakob Disease
Bovine Spongiform Encephalopathy
Vcjd
Cjd
Creutzfeldt-Jakob Disease, Familial
Encephalopathy, Bovine Spongiform
Variant Mcj
Creutzfeldt-Jakob Disease, Variant, Resistance to
Vcjd - [variant Creutzfeldt-Jakob Disease]
New Variant Creutzfeldt-Jakob Disease
Creutzfeldt-Jakob Disease, Sporadic
Creutzfeldt-Jakob Disease, Variant
Subacute Spongiform Encephalopathy
Acquired Creutzfeldt-Jakob Disease
Familial Creutzfeldt-Jakob Disease
Encephalopathy Bovine Spongiform
Transmissible Virus Dementia
Creutzfeldt Jacob Syndrome
Creutzfeldt-Jakob Syndrome
Creutzfeldt Jakob Disease
Creutzfeldt-Jacob Disease
Jakob-Creutzfeldt Disease
Creutzfeldt Jacob Disease
Inherited Cjd
Acquired Cjd
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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
克雅氏症,又称变异克雅氏症,与格斯特曼-斯特劳斯勒病和正常压力脑积水有关,症状包括背痛、头痛和偏瘫。与克雅氏症有关的重要基因是PRNP(Prion Protein(Kanno Blood Group)),其相关通路/超级通路包括神经科学和神经干细胞和特异性标记。在该疾病的背景下提到了煤焦油和奎宁。附属组织包括大脑和脊髓,相关表型为癫痫和异常锥体征。
Related ID:
MALACARDS:CRT072
OMIM:123400
MESH:D007562
ICD11:378572696
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
成年期
--
45
666
132
CRT072
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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