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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
Malignant Hyperthermia (MHS)
Alias:
Anesthesia Related Hyperthermia
Malignant Hyperpyrexia Due to Anesthesia
Malignant Hyperthermia, Susceptibility to
Hyperpyrexia, Malignant
Hyperthermia, Malignant
Malignant Hyperpyrexia
Malignant Fever
Mhs
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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
恶性高热,又称麻醉相关高热,与恶性高热1和先天性肌病13有关,症状包括术后发热、肌肉僵硬和疼痛。恶性高热相关的重要基因是RYR1(Ryanodine Receptor 1),其相关通路/超级通路包括CREB通路和心脏传导。在该疾病的背景下,提到的药物有异氟烷和咖啡因。相关组织包括骨骼肌和心脏,相关表型为肌肉和稳态/代谢。
Related ID:
MALACARDS:MLG056
MESH:D008305
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
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57
450
51
MLG056
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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