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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
Amyotrophic Lateral Sclerosis 21 (ALS21)
Alias:
Amyotrophic Lateral Sclerosis Type 21
Als21
Multisystem Proteinopathy 5
Msp5
Vocal Cord and Pharyngeal Dysfunction with Distal Myopathy, Formerly
Vocal Cord and Pharyngeal Dysfunction with Distal Myopathy
Distal Myopathy with Vocal Cord Weakness
Sclerosis, Lateral, Amyotrophic, Type 21
Myopathy, Distal, 2, Formerly
Myopathy, Distal 2
Distal Myopathy 2
Vcpdm, Formerly
Mpd2, Formerly
Vcpdm
Mpd2
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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
肌萎缩侧索硬化21型,也称为肌萎缩侧索硬化21型,与远端肌病2型和远端遗传性运动神经元病7型有关,症状包括上运动神经元征象。与肌萎缩侧索硬化21型有关的重要基因是MATR3(Matrin 3),其相关通路/超级通路包括肌萎缩侧索硬化症(ALS)。相关组织包括脊髓和骨骼肌,相关表型包括痴呆和远端感觉障碍。
Related ID:
MALACARDS:AMY069
OMIM:606070
MESH:D000690
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
成年期
--
13
137
7
AMY069
Medical Symptom
#
Categorization
Description
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Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
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Gene
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Score
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
No data available
Disease Model
Category
Name
MGI
Related Gene
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Publications
No data available
References Literature
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IF
No Data Found!
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