Deafness, Autosomal Recessive 44 (DFNB44)

Alias:
Dfnb44
Autosomal Recessive Nonsyndromic Deafness 44
Autosomal Recessive Nonsyndromic Hearing Loss 44
Deafness, Autosomal Recessive, Type 44
Deafness, Autosomal Recessive, 44
Autosomal Recessive Deafness 44
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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44型,也被称为dfnb44,与先天性聋,常染色体显性99型和先天性聋,常染色体显性20型有关。与先天性聋,常染色体隐性44型有关的重要基因是ADCY1(腺苷酸环化酶1),其相关通路/超通路包括声音感觉处理。相关表型为前语言感觉神经性听力障碍和神经系统。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
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6
32
2

Medical Symptom

#
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

Title
PMID
Journal
Year
IF
No Data Found!
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