Primary Ciliary Dyskinesia (PCD)

Alias:
Pcd
Ciliary Motility Disorders
Immotile Cilia Syndrome
Kartagener Syndrome
Dyskinesia, Ciliary, Primary
Ciliary Motility Disorder
Immotile Ciliary Syndrome
Favorite
基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
文献报道
原发性纤毛运动障碍,也称为pcd,与纤毛运动障碍、原发性1和卡塔格内综合征有关,症状包括头痛。与原发性纤毛运动障碍有关的重要基因是DNAH5(轴突内重链5)。在该疾病的背景下,已提到Ivacaftor和Pharmaceutical Solutions药物。附属组织包括原始条纹、心脏和脾脏,相关表型为慢性中耳炎和复发性中耳炎。
Related ID:
MESH:D002925

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
X显
常显
常隐
X染色体
新生儿
1-5/10000
295
1550
290

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!
微信
信息比对
科研助手
使用教程
回到顶部