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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
Pulmonary Venoocclusive Disease (PVOD)
Alias:
Pulmonary Veno-Occlusive Disease
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Venous Form of Primary Pulmonary Hypertension
Obstructive Disease of the Pulmonary Veins
Isolated Pulmonary Venous Sclerosis
Pvod
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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
肺静脉闭塞性疾病,也称为肺静脉闭塞性疾病1,常染色体显性遗传和动静脉畸形,症状包括咯血。与肺静脉闭塞性疾病相关的基因是EIF2AK4(真核翻译起始因子2α激酶4),其相关通路/超级通路包括信号转导和人胚胎干细胞多能性。在该疾病的背景下提到了贝伐单抗和橙色药物。附属组织包括肺和心脏,相关表型为降低底物粘附细胞生长和增加人巨细胞病毒(HCMV)AD169株复制。
Related ID:
MALACARDS:PLM025
MESH:D011668
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
全年龄段
<1/1000000
26
297
--
PLM025
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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