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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
Primary Aldosteronism, Seizures, and Neurologic Abnormalities (PASNA)
Alias:
Pasna
Aldosterone-Producing Adenoma with Seizures and Neurological Abnormalities
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Aldosteronism, Primary, Seizures, and Neurologic Abnormalities
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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
原发性醛固酮增多症、癫痫发作和神经异常,也称为pasna,与视觉癫痫和康恩综合症有关,症状包括肌阵挛性癫痫发作。与原发性醛固酮增多症、癫痫发作和神经异常有关的重要基因是CACNA1D(钙电压门控通道亚基α1D)。相关组织包括心脏,相关表型为高血压和醛固酮增多症。
Related ID:
MALACARDS:PRM183
OMIM:615474
MESH:D006929
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
新生儿
<1/1000000
1
7
1
PRM183
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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