Deafness, Autosomal Dominant 34, with or Without Inflammation (DFNA34)

Alias:
Dfna34
Hearing Loss, Autosomal Dominant 34, with or Without Inflammation
Deafness, Autosomal Dominant, 34, with or Without Inflammation
Favorite
基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
文献报道
耳聋,常染色体显性34型,伴有或不伴有炎症,也称为dfna34,与关节挛缩、翼状胬肉和脊柱-掌跖-踝关节融合综合征1a以及梅尼埃病有关。与耳聋,常染色体显性34型,伴有或不伴有炎症有关的重要基因是NLRP3(NLR家族Pyrin域含3)。相关组织包括大脑,相关表型为关节炎和发热。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
--
1
37
1

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!
微信
信息比对
科研助手
使用教程
回到顶部