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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
Insulinomatosis and Diabetes Mellitus (INSDM)
Alias:
Islet Cell Adenomatosis
Insdm
Nesidioblastosis
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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
胰岛细胞腺瘤症和糖尿病,也被称为胰岛细胞腺瘤,与胰岛细胞瘤和高胰岛素性低血糖症有关,家族性,2型。与胰岛细胞腺瘤症和糖尿病有关的重要基因是MAFA(MAF BZIP转录因子A)。在该疾病的背景下,已经提到了奥曲肽和生长抑素这两种药物。附属组织包括胰岛,相关表型包括2型糖尿病和胰岛细胞瘤。
Related ID:
MALACARDS:INS034
OMIM:147630
MESH:D007516
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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1
11
4
INS034
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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