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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
Hypoglycemia
Alias:
Hypoglycaemia
Hypoglycaemic Disorder Nos
Spontaneous Hypoglycaemia
Nondiabetic Hypoglycaemia
Hypoglycaemic Syndrome
Hypoglycaemia Nos
Low Blood Sugar
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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
低血糖症,也称为低血糖症,与胰岛素过多性低血糖症,家族性,2型和胰岛素过多性低血糖症,家族性,7型有关,症状包括糖渴望。与低血糖症有关的重要基因是ABCC8(ATP结合盒C家族成员8),其相关通路/超级通路包括代谢和PI3K-Akt信号通路。在该疾病的背景下提到了格列本脲和左氧氟沙星。附属组织包括胰腺和心脏,相关表型为稳态/新陈代谢和肝脏/胆道系统。
Related ID:
MALACARDS:HYP056
MESH:D007003
ICD11:1004695600
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
--
98
1017
3
HYP056
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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