Deafness, Autosomal Recessive 89 (DFNB89)

Alias:
Dfnb89
Autosomal Recessive Nonsyndromic Deafness 89
Autosomal Recessive Nonsyndromic Hearing Loss 89
Deafness, Autosomal Recessive, Type 89
Deafness, Autosomal Recessive, 89
Autosomal Recessive Deafness 89
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Deafness, Autosomal Recessive 89, also known as dfnb89, is related to deafness, congenital, and adult-onset progressive leukoencephalopathy and nonsyndromic hearing loss. An important gene associated with Deafness, Autosomal Recessive 89 is KARS1 (Lysyl-TRNA Synthetase 1), and among its related pathways/superpathways are Metabolism of proteins and Peptide chain elongation. Related phenotypes are sensorineural hearing impairment and vestibular hypofunction
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
--
12
50
2

Medical Symptom

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

Gene & Mutation

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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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