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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
Budd-Chiari Syndrome (BDCHS)
Alias:
Hepatic Vein Thrombosis
Chiari Syndrome
Bdchs
Membranous Obstruction of the Inferior Vena Cava
Budd-Chiari Syndrome, Susceptibility to, Somatic
Membranous Obstruction of Inferior Vena Cava
Budd-Chiari Syndrome, Susceptibility to
Budd-Chiari Syndrome, Somatic
Obstruction of Hepatic Veins
Hepatic Vein Obstruction
Hepatic Venous Block
Hepatic Vein Block
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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
肝静脉闭塞症,又称 Budd-Chiari 综合征,与肝静脉闭塞性疾病和髓系增生性肿瘤有关。与 Budd-Chiari 综合征相关的重要基因是 JAK2 (Janus Kinase 2),其相关通路/超级通路包括细胞质钙离子升高的反应和胶原链三聚体化。在该疾病的背景下,已提到的药物有阿特佐利单抗和贝伐单抗。相关组织包括肝脏和脾脏,相关表型包括脾肿大和门静脉高压。
Related ID:
MALACARDS:BDD001
OMIM:600880
MESH:D006502
ICD11:1300118676
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
全年龄段
1-9/1000000
36
318
52
BDD001
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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