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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
Neurodegeneration with Brain Iron Accumulation 6 (NBIA6)
Alias:
Nbia6
Neurodegeneration with Brain Iron Accumulation Due to Coasy Mutation
Copan
Coasy Protein-Associated Neurodegeneration
Neurodegeneration, with Brain Iron Accumulation, Type 6
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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
神经退行性脑铁沉积6,也称为nbia6,与神经退行性脑铁沉积1有关,其症状包括肌肉僵硬、偏瘫、痉挛和运动迟缓。与神经退行性脑铁沉积6有关的重要基因是COASY(辅酶A合成酶),其相关通路/超级通路包括代谢和水溶性维生素和辅因子的代谢。在该疾病的背景下提到了铁药物。相关组织包括大脑和尾状核,相关表型为言语障碍和认知障碍。
Related ID:
MALACARDS:NRD016
OMIM:615643
MESH:D001480
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
孩童期
<1/1000000
5
24
8
NRD016
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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