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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
Hyperinsulinemic Hypoglycemia
Alias:
Nesidioblastosis
Persistent Hyperinsulinemia Hypoglycemia of Infancy
Hyperinsulinemic Hypoglycaemia
Islet Cell Hyperplasia
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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
高胰岛素血症低血糖症,也称为 nesidioblastosis,与家族性高胰岛素血症低血糖症 1 和家族性高胰岛素血症低血糖症 4 有关。与高胰岛素血症低血糖症相关的基因是 ABCC8(ATP 结合盒家族 C 成员 8),其相关通路/超级通路包括能量代谢的代谢和整合。在该疾病的背景下提到了兰瑞妥和呋塞米。附属组织包括胰岛和胰腺,相关表型为稳态/代谢和生长/大小/身体部位。
Related ID:
MALACARDS:HYP050
MESH:D046768
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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31
350
129
HYP050
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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