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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
Carbohydrate Metabolic Disorder
Alias:
Inborn Errors of Carbohydrate Metabolism
Carbohydrate Metabolism, Inborn Errors
Disorder of Carbohydrate Metabolism
Disorder of Carbohydrate Transport and Metabolism
Congenital Disorders of Carbohydrate Metabolism
Inherited Disorders of Carbohydrate Metabolism
Inborn Carbohydrate Metabolism Disorder
Inborn Carbohydrate Metabolic Disorder
Disorders of Carbohydrate Metabolism
Carbohydrate Metabolism Disorders
Carbohydrate Metabolism Disorder
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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
碳水化合物代谢障碍,又称先天性碳水化合物代谢紊乱,与2型糖尿病和脂肪肝有关。与碳水化合物代谢障碍有关的重要基因是INS(胰岛素),其相关通路/超级通路包括细胞分化-扩展索引和miRNA在败血症免疫反应中的作用。在该障碍的背景下提到了贝扎罗汀和甘油。附属组织包括大脑和肝脏。
Related ID:
MALACARDS:CRB025
MESH:D002239
ICD11:1321492691
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
485
3
CRB025
Medical Symptom
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No data available
Gene & Mutation
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