Deafness, Autosomal Recessive 70, with or Without Adult-Onset Neurodegeneration (DFNB70)

Alias:
Dfnb70
Deafness, Autosomal Recessive, 70, with or Without Adult-Onset Neurodegeneration
Autosomal Recessive Nonsyndromic Hearing Loss 70
Deafness, Autosomal Recessive, Type 70
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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
先天性聋,常染色体隐性70型,伴有或不伴有成人期神经退行性病变,也称为dfnb70,与常染色体隐性非综合征性聋70有关。与先天性聋,常染色体隐性70型,伴有或不伴有成人期神经退行性病变相关的基因是PNPT1(多核糖核苷酸核苷转移酶1)。
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
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1
5
4

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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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

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PMID
Journal
Year
IF
No Data Found!
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