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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
Immunoglobulin Heavy Chain Amyloidosis
Alias:
Heavy Chain Amyloidosis
Ah Amyloidosis
Amyloidosis Derived from Immunoglobulin Heavy Chain
Ig Heavy-Chain-Associated Amyloidosis
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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
免疫球蛋白重链淀粉样变性,又称重链淀粉样变性,与免疫球蛋白重链和轻链以及晶状体网状角膜病变有关。与免疫球蛋白重链淀粉样变性有关的重要基因是DNAJB9(热休克蛋白家族(Hsp40)成员B9),其相关通路/超级通路包括埃博拉病毒感染宿主和Ca、cAMP和脂质信号传导。在该疾病的背景下提到了药物雷帕霉素和苯佐卡因。附属组织包括肝脏和骨骼。
Related ID:
MALACARDS:IMM247
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
新生儿
<1/1000000
7
29
--
IMM247
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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