Usher Syndrome, Type Ic (USH1C)

Alias:
Usher Syndrome, Type 1c
Usher Syndrome Type 1c
Ush1c
Usher Syndrome Type I Acadian Variety
Usher Syndrome Type Ic
Usher Syndrome, Type I, Acadian Variety
Usher's Syndrome Type 1c
Acadian Usher Syndrome
Usher Syndrome 1c
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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
Usher综合症Ic型,也称为Usher综合症Ic型,与聋哑、常染色体显性65和Usher综合症IIc型有关。与Usher综合症Ic型有关的重要基因是USH1C(USH1蛋白网络成分Harmonin),其相关通路/超级通路包括嗅觉信号通路和纤毛景观。附属组织包括视网膜和眼睛,相关表型为先天性感觉神经性听力障碍和视网膜色素变性。
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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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15
214
34

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

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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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