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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
Somatoform Disorder
Alias:
Physiological Malfunction Arising from Mental Factor
Psychophysiologic Disorders
Psychosomatic 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
躯体形式障碍,又称精神因素引起的生理机能障碍,与 alexithymia 和人格障碍有关,症状包括呼吸困难、头痛和脑膜炎。与躯体形式障碍相关的重要基因是 SCN9A(钠电压门控通道α亚基9),其相关通路/超级通路包括 cAMP 依赖性 PKA 活化和心脏传导。在该障碍的背景下提到了药物丁酸睾酮和醋酸甲羟孕酮。附属组织包括小肠和心脏,相关表型是神经系统和稳态/代谢。
Related ID:
MALACARDS:SMT006
MESH:D013001
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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38
503
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SMT006
Medical Symptom
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Description
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Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
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Gene
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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
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No Data Found!
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