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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
Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction (HCAD)
Alias:
Hcad
Hirschsprung Disease, Cardiac Defects, Autonomic Dysfunction
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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
希尔斯普朗病、心脏缺陷和自主神经功能障碍,也称为 hcad,与希尔斯普朗病1和心脏病有关。与希尔斯普朗病、心脏缺陷和自主神经功能障碍有关的重要基因是ECE1(内皮素转化酶1)。相关组织包括平滑肌和睾丸,相关表型为高血压和自主神经系统生理异常。
Related ID:
MALACARDS:HRS016
OMIM:613870
MESH:D006627
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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1
6
6
HRS016
Medical Symptom
#
Categorization
Description
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Orphanet Frequency
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No data available
Gene & Mutation
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Gene
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Mutations
No data available
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Name
CAS Number
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Phase
No data available
Disease Model
Category
Name
MGI
Related Gene
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Publications
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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