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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
Sudden Infant Death Syndrome (SIDS)
Alias:
Sids
Sudden Infant Death Syndrome, Susceptibility to
Sudden Death of Nonspecific Cause in Infancy
Death, Sudden, Syndrome, Infant
Sudden Infant Death
Crib Death
Cot Death
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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
突然婴儿死亡综合症,也称为SIDS,与短QT综合症和家族性长QT综合症有关,症状包括呼吸暂停。与突然婴儿死亡综合症相关的重要基因是SCN5A(钠电压门控通道α亚单位5),其相关通路/超级通路包括心脏传导和多巴胺-DARPP32反馈到cAMP通路。在该疾病的背景下,已提到氯己定和氯己定葡萄糖酸盐。附属组织包括大脑和延髓,相关表型为恶性高热和婴儿时期的呼吸暂停。
Related ID:
MALACARDS:SDD001
OMIM:272120
MESH:D013398
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
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103
1321
45
SDD001
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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