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Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LOXHD1 gene.
Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 9:15 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Features include always present findings: Bilateral sensorineural hearing impairment. 3 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Ears | 3 | Bilateral sensorineural hearing impairment, Abnormal vestibular function, Tinnitus |
Age of onset: childhood.
LOXHD1 encodes lipoxygenase homology PLAT domains 1 (2,067 aa). Involved in hearing. Required for normal function of hair cells in the inner ear Highest expression in Testis (16.9 TPM) and Pituitary (2.1 TPM).
Autosomal recessive nonsyndromic hearing loss 77 is associated with mutations in the LOXHD1 gene on chromosome 18.
LOXHD1 is classified as a druggable target with score 0.0.
Genetic testing for LOXHD1 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 1 always present feature.
No clinical trials have been registered for autosomal recessive nonsyndromic hearing loss 77.
3 publications have been identified in PubMed for autosomal recessive nonsyndromic hearing loss 77. Research spans Case Report / Case Series (33%), Clinical Trial Publication (33%), and Epidemiology / Natural History (33%).
Guan RR (2026). [PMID: 41521852](https://pubmed.ncbi.nlm.nih.gov/41521852/). *Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery*. [Clinical Trial Publication]
Idárraga GDO (2025). [PMID: 40080775](https://pubmed.ncbi.nlm.nih.gov/40080775/). *JBRA assisted reproduction*. [Epidemiology / Natural History]
El Mekkaoui M (2025). [PMID: 40727166](https://pubmed.ncbi.nlm.nih.gov/40727166/). *Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India*. [Case Report / Case Series]