Deafness, Autosomal Dominant 6 (DFNA6)

Alias:
Dfna6
Dfna14
Dfna38
Autosomal Dominant Nonsyndromic Deafness 6
Deafness, Autosomal Dominant 6/14/38
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 6
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 6
Autosomal Dominant Nonsyndromic Hearing Loss 6
Deafness, Autosomal Dominant, Type A6
Deafness, Autosomal Dominant 14
Deafness, Autosomal Dominant 38
Deafness, Autosomal Dominant, 6
Autosomal Dominant Deafness 14
Autosomal Dominant Deafness 38
Deafness Autosomal Dominant 14
Deafness Autosomal Dominant 38
Autosomal Dominant Deafness 6
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Deafness, Autosomal Dominant 6, also known as dfna6, is related to wolfram syndrome and deafness, autosomal dominant 1, with or without thrombocytopenia. An important gene associated with Deafness, Autosomal Dominant 6 is WFS1 (Wolframin ER Transmembrane Glycoprotein). Affiliated tissues include brain, and related phenotypes are progressive sensorineural hearing impairment and low-frequency sensorineural hearing impairment
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
--
7
100
18

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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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
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IF
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