Caroli Disease

Alias:
Caroli Syndrome
Carolis Disease
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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
卡罗里病,又称卡罗里综合症,与卡罗里病、孤立性先天性肝纤维化有关。与卡罗里病相关的重要基因是PKHD1(PKHD1 ciliary IPT domain containing fibrocystin/polyductin),其相关通路/超级通路包括细胞器生物发生和维护、肝ABC转运体。附属组织包括肝脏和肾脏,相关表型为胆汁淤积和肝内胆汁淤积。
Related ID:
MESH:D016767

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
全年龄段
1-9/1000000
14
135
10

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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