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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
非罕见病
Bladder Dysfunction, Autonomic, with Impaired Pupillary Reflex and Secondary Cakut (BAIPRCK)
Alias:
Urinary Bladder, Atony of
Baiprck
Atony of Urinary Bladder
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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
膀胱功能障碍,自主性,伴有瞳孔反射障碍和继发性Cakut,也被称为尿道膀胱,松弛。与膀胱功能障碍,自主性,伴有瞳孔反射障碍和继发性Cakut相关的重要基因是CHRNA3(烟碱型乙酰胆碱受体α3亚基)。附属组织包括肾脏,相关表型为慢速瞳孔光反应和尿路反流。
Related ID:
MALACARDS:BLD169
OMIM:191800
MESH:D001750
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
--
1
6
2
BLD169
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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