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GENATLAS PHENOTYPE
last update : 08-07-2019
Symbol DFNA34
Location 1q44
Name deafness, autosomal dominant 34, with or without inflammation
Corresponding gene NLRP3
Main clinical features
  • autosomal dominant form of postlingual, slowly progressive sensorineural hearing loss with variable severity
  • pure hearing loss without significant additional features, but also features of an autoinflammatory disorder with systemic manifestations, including periodic fevers, arthralgias, and episodic urticaria
  • Genetic determination autosomal dominant
    Function/system disorder ear
    Type disease
    Remark(s) . results from abnormally increased activation of the inflammatory pathway, and treatment with an IL1 receptor antagonist may be effective if started early