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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
Neonatal Diabetes (NDM)
Alias:
Neonatal Diabetes Mellitus
Diabetes Mellitus Syndrome in Newborn Infant
Ndm
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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
新生儿糖尿病,也称为新生儿婴儿糖尿病综合征,与新生儿糖尿病和先天性甲状腺功能减退症相关的胰腺β细胞发育不良有关。与新生儿糖尿病有关的重要基因是KCNJ11(钾内向整流通道家族J成员11),其相关通路/超级通路包括神经系统发育和能量代谢的整合。在该疾病的背景下提到了格列本脲和胰高血糖素。附属组织包括胰腺和胰岛,相关表型为shRNA丰度<=50%和稳态/代谢。
Related ID:
MALACARDS:NNT058
ICD11:1217915084
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
常显
新生儿
1-9/100000
28
338
12
NNT058
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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