Isolated Permanent Neonatal Diabetes Mellitus

Isolated Permanent Neonatal Diabetes Mellitus(来自ICD-11)
别称:
Monogenic Diabetes of Infancy
Isolated Pndm
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Isolated Permanent Neonatal Diabetes Mellitus, also known as monogenic diabetes of infancy, is related to neonatal diabetes and monogenic diabetes. An important gene associated with Isolated Permanent Neonatal Diabetes Mellitus is ABCC8 (ATP Binding Cassette Subfamily C Member 8), and among its related pathways/superpathways are Integration of energy metabolism and Disorders of transmembrane transporters. Affiliated tissues include pancreas and heart, and related phenotypes are failure to thrive and dehydration
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基础信息

遗传方式
发病时间
患病率/发病率
相关基因
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参考文献
MALACARDS
AR
AD
Antenatal
1-9/1000000
6
142
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疾病表征

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靶点药物

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临床阶段
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疾病模型

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MGI
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