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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
Hereditary Amyloidosis
Alias:
Heredofamilial Amyloidosis
Amyloidosis, Hereditary
Amyloidosis Hereditary
Amyloidosis, Familial
Familial Amyloidosis
Genetic 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
遗传性淀粉样变性,又称为家族性淀粉样变性,与淀粉样变性、遗传性、甲状腺结合球蛋白相关的淀粉样变性和芬兰型淀粉样变性有关。与遗传性淀粉样变性有关的重要基因是TTR(甲状腺结合球蛋白),其相关通路/超级通路包括蛋白质代谢和RNA聚合酶I启动子开放。在该疾病的背景下提到了Diflunisal和Narcotics药物。附属组织包括肝脏和心脏,相关表型为内分泌/外分泌腺和心血管系统。
Related ID:
MALACARDS:HRD039
ICD11:1152878652
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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6
79
--
HRD039
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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