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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
Fatal Familial Insomnia (FFI)
Alias:
Insomnia, Fatal Familial
Ffi
Ffi - [fatal Familial Insomnia]
Insomnia, Fatal, Familial
Insomnia Fatal Familial
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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
致命家族失眠症,也称为失眠症、致命家族性失眠症,与前额叶和颞叶退行性病变、GRN相关和睡眠障碍有关,症状包括呼吸暂停、共济失调和便秘。与致命家族失眠症有关的重要基因是PRNP(朊病毒蛋白(Kanno血型)),其相关通路/超级通路包括阿尔茨海默病、miRNA效应和神经科学。在该疾病的背景下,已经提到了多西环素和抗菌药物。附属组织包括丘脑和大脑,相关表型包括肌阵挛和共济失调。
Related ID:
MALACARDS:FTL002
OMIM:600072
MESH:D034062
ICD11:669154658
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
成年期
<1/1000000
20
379
53
FTL002
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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