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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
Hypoglycemia, Leucine-Induced (LIH)
Alias:
Leucine-Sensitive Hypoglycemia of Infancy
Leucine-Induced Hypoglycemia
Hypoglycemia of Infancy, Leucine-Sensitive
Lih
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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,亮氨酸诱导的,也被称为婴儿亮氨酸敏感性低血糖症,与低血糖症和高胰岛素血症有关,症状包括肌肉痉挛。与低血糖症,亮氨酸诱导相关的基因是ABCC8(ATP结合盒C家族成员8),其相关通路/超级通路包括抗心律失常通路、药物动力学和发育途径_通过PI3K依赖途径的瘦素信号传导。附属组织包括胰岛,相关表型为低血糖症和高胰岛素血症性低血糖症。
Related ID:
MALACARDS:HYP782
OMIM:240800
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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12
71
3
HYP782
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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