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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
Protein-Energy Malnutrition (PEM)
Alias:
Protein Energy Malnutrition
Pem
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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
蛋白质-能量营养不良,也称为蛋白质能量营养不良,与马瑞斯和卡维西奥有关,症状包括消瘦和消瘦。与蛋白质-能量营养不良有关的重要基因是ALB(白蛋白),其相关通路/超级通路包括胰岛素样生长因子(IGF)通过胰岛素样生长因子结合蛋白(IGFBPs)的运输和摄取的调节,以及胚胎和诱导多能干细胞和特异性标记物。在该疾病的背景下提到了药物 Pentoxifylline 和抗氧化剂。附属组织包括肝脏和骨骼肌,相关表型为稳态/代谢和肝脏/胆道系统。
Related ID:
MALACARDS:PRT038
MESH:D011502
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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21
211
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PRT038
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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