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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
Cystic Fibrosis (CF)
Alias:
Mucoviscidosis
Cf
Pseudomonas Aeruginosa, Susceptibility to Chronic Infection by, in Cystic Fibrosis
Pseudomonas Aeruginosa Chronic Infection by, in Cystic Fibrosis
Cystic Fibrosis Lung Disease, Modifier of
Nonproliferative Fibrocystic Disease
Fibrocystic Disease of the Pancreas
Fibrocystic Disease of Pancreas
Cystic Fibrosis of Pancreas
Mucoviscidosis of Pancreas
Pancreatic Cystic Fibrosis
Cf - [cystic Fibrosis]
Cystic Fibrosis Nos
Fibrocystic 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
囊性纤维化,也称为粘液性囊性纤维化,与输精管、先天性双侧无精症和伴有或不伴有高氯汗液的支气管扩张有关,症状包括咳嗽、咯血和打鼾。与囊性纤维化有关的重要基因是CFTR(CF跨膜导通调节器),与其相关的途径/超级途径包括胚胎和诱导多能干细胞和特异性标记物和光动力疗法诱导的NFE2L2(NRF2)生存信号通路。在该疾病的背景下提到了头孢噻肟和克拉维酸。附属组织包括肺和胰腺,相关表型为反复呼吸道感染和吸收不良
Related ID:
MALACARDS:CYS001
OMIM:219700
MESH:D003550
ICD11:514403112
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
全年龄段
1-5/10000
347
3112
1662
CYS001
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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