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Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the KARS gene.
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:58 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Features include always present findings: Inner ear hearing loss (sensorineural hearing impairment). 2 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Ears | 2 | Inner ear hearing loss (sensorineural hearing impairment), Vestibular hyporeflexia |
Brain and nerves | 1 | Vestibular hyporeflexia |
KARS1 encodes lysyl-tRNA synthetase 1 (597 aa). Catalyzes the specific attachment of an amino acid to its cognate tRNA in a 2 step reaction: the amino acid (AA) is first activated by ATP to form AA-AMP and then transferred to the acceptor end of the tRNA. Highest expression in Cells EBV-transformed lymphocytes (185.3 TPM) and Cells Cultured fibroblasts (142.7 TPM).
Autosomal recessive nonsyndromic hearing loss 89 is associated with mutations in the KARS1 gene on chromosome 16.
KARS1 is classified as a druggable target (Druggable Genome and Enzyme categories) with score 0.0.
Genetic testing for KARS1 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for autosomal recessive nonsyndromic hearing loss 89 has been reported in the published literature.
Phenotype severity distribution: 1 always present feature.
No clinical trials have been registered for autosomal recessive nonsyndromic hearing loss 89.
8 publications have been identified in PubMed for autosomal recessive nonsyndromic hearing loss 89. Research spans Diagnostic / Biomarker (25%), Review / Meta-Analysis (25%), and Case Report / Case Series (25%).
Theunis M (2026). [PMID: 41126390](https://pubmed.ncbi.nlm.nih.gov/41126390/). *Ophthalmic Genet*. [Review / Meta-Analysis]
Riahi Z (2025). [PMID: 41359850](https://pubmed.ncbi.nlm.nih.gov/41359850/). *Proc Natl Acad Sci U S A*. [Review / Meta-Analysis]
Ding Y (2025). [PMID: 40195191](https://pubmed.ncbi.nlm.nih.gov/40195191/). *Eur Arch Otorhinolaryngol*. [Diagnostic / Biomarker]
Gao AM (2025). [PMID: 40837343](https://pubmed.ncbi.nlm.nih.gov/40837343/). *World J Diabetes*. [Case Report / Case Series]
Toure M (2025). [PMID: 39092543](https://pubmed.ncbi.nlm.nih.gov/39092543/). *Ann Hum Genet*. [Case Report / Case Series]
Uwibambe E (2025). [PMID: 40149409](https://pubmed.ncbi.nlm.nih.gov/40149409/). *Genes (Basel)*. [Epidemiology / Natural History]
Wang W (2025). [PMID: 40389765](https://pubmed.ncbi.nlm.nih.gov/40389765/). *J Assist Reprod Genet*. [Diagnostic / Biomarker]
Liu Y (2025). [PMID: 40555484](https://pubmed.ncbi.nlm.nih.gov/40555484/). *Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi*. [Basic Science / Preclinical]