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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 Hypertension (IPAH)
Alias:
Primary Pulmonary Hypertension
Idiopathic Pulmonary Arterial Hypertension
Primary Pulmonary Arterial Hypertension
Idiopathic Pulmonary Hypertension
Hypertension, Pulmonary, Primary
Pulmonary Htn - [hypertension]
Hypertension, Pulmonary
Hypertension Pulmonary
Ipah
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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
肺动脉高压,也称为原发性肺动脉高压,与肺动脉高压、原发性1和持续性胎儿循环综合征有关,症状包括心绞痛、胸痛和咳嗽。与肺动脉高压相关的基因是BMPR2(骨形态发生蛋白受体2),其相关通路/超级通路包括心肌细胞肥大中的微小核糖核酸和前列腺素合成和调节。在该疾病的背景下提到了吗啡和布比卡因。附属组织包括肺和心脏,相关表型为呼吸困难和肺动脉高压。
Related ID:
MALACARDS:PLM037
MESH:D006976
ICD11:1496633964
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
全年龄段
1-9/100000
117
1343
58
PLM037
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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