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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
Tango2-Related Metabolic Encephalopathy and Arrythmias
Alias:
Tango2 Deficiency
Metabolic Encephalomyopathic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration
Tango2-Related Metabolic Encephalopathy Arrhythmias
Tango2 Deficiency 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
Tango2相关代谢性脑病和心律失常,也称为Tango2缺乏症,与代谢危机有关,反复发作,伴有横纹肌溶解、心律失常、神经退行性和甲状腺功能减退。附属组织包括骨骼肌和心脏。
Related ID:
MALACARDS:TNG014
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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14
TNG014
Medical Symptom
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Categorization
Description
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Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
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No data available
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Name
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No data available
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Name
MGI
Related Gene
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No data available
References Literature
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No Data Found!
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