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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 Spastic Paraplegia 35 (FAHN)
Alias:
Autosomal Recessive Spastic Paraplegia Type 35
Spg35
Leukodystrophy, Dysmyelinating and Spastic Paraparesis with or Without Dystonia
Fatty Acid Hydroxylase-Associated Neurodegeneration
Autosomal Recessive Spastic Paraplegia 35
Fahn
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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
遗传性痉挛性截瘫35型,又称常染色体隐性痉挛性截瘫35型,与痉挛性截瘫35型、常染色体隐性、伴有或不伴有神经退行性病变和侧索硬化有关,症状包括共济失调、癫痫发作和尿急。与遗传性痉挛性截瘫35型有关的重要基因是FA2H(脂肪酸2-羟化酶),其相关通路/超级通路包括自噬和辅酶A生物合成III超级通路(哺乳动物)。铁已被提及与这种疾病有关。相关组织包括苍白球和大脑,相关表型为高反射性和痉挛性截瘫。
Related ID:
MALACARDS:HRD227
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
孩童期
<1/1000000
28
154
14
HRD227
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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