Deafness, Autosomal Dominant 22 (DFNA22)

Alias:
Dfna22
Progressive Sensorineural Hearing Loss-Hypertrophic Cardiomyopathy Syndrome
Deafness, Autosomal Dominant 22, with Hypertrophic Cardiomyopathy
Autosomal Dominant Nonsyndromic Deafness 22
Progressive Neurosensory Hearing Loss-Hypertrophic Cardiomyopathy Syndrome
Progressive Sensorineural Deafness-Hypertrophic Cardiomyopathy Syndrome
Progressive Neurosensory Deafness-Hypertrophic Cardiomyopathy Syndrome
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 22
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 22
Deafness, Autosomal Dominant Nonsyndromic Sensorineural 22
Autosomal Dominant Nonsyndromic Hearing Loss 22
Deafness, Autosomal Dominant, Type 22
Deafness, Autosomal Dominant, 22
Autosomal Dominant Deafness 22
Dfnhcm
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Deafness, Autosomal Dominant 22, also known as dfna22, is related to deafness, autosomal recessive 3 and deafness, autosomal dominant 4a. An important gene associated with Deafness, Autosomal Dominant 22 is MYO6 (Myosin VI), and among its related pathways/superpathways are Integrin Pathway and Olfactory Signaling Pathway. Affiliated tissues include brain, and related phenotypes are sensorineural hearing impairment and progressive sensorineural hearing impairment
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
All ages
<1/1000000
14
150
6

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

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PMID
Journal
Year
IF
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