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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
Ceroid Lipofuscinosis, Neuronal, 10 (CLN10)
Alias:
Neuronal Ceroid Lipofuscinosis Due to Cathepsin D Deficiency
Neuronal Ceroid Lipofuscinosis 10
Cathepsin D Deficiency
Cln10
Congenital Neuronal Ceroid Lipofuscinosis
Cln10 Disease
Neuronal Ceroid Lipofuscinosis Cathepsin D-Deficient
Ceroid Lipofuscinosis, Neuronal, Cathepsin D-Deficient
Cathepsin D Deficient Neuronal Ceroid Lipofuscinosis
Neuronal Ceroid Lipofuscinosis, Congenital
Lipofuscinosis, Ceroid, Neuronal, Type 10
Congenital Ncl
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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
Ceroid Lipofuscinosis, Neuronal, 10(神经性Ceroid Lipofuscinosis,由于cathepsin d缺乏引起的,与溶酶体贮存病和周围视网膜退化有关,症状包括呼吸暂停、共济失调和肌肉僵硬)。与Ceroid Lipofuscinosis, Neuronal, 10相关的基因是CTSD(Cathepsin D)。相关组织包括大脑和皮层,相关表型为细胞内自动荧光脂质色素储存物质的积累和血管颗粒状锇酸性物质沉积。
Related ID:
MALACARDS:CRD182
OMIM:610127
MESH:D009472
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
新生儿
<1/1000000
15
83
9
CRD182
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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