Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the KCNQ4 gene.
Comprehensive, easy-to-understand information about this condition
How we create this content →Inheritance patterns describe how genetic conditions are passed from parents to children.
Inheritance patterns describe how genetic conditions are passed from parents to children.
The documentation for autosomal dominant nonsyndromic hearing loss 2A is limited primarily because this condition affects a relatively small number of individuals, making systematic clinical studies challenging. Additionally, the genetic basis was identified only recently, and comprehensive clinical characterization is ongoing. This means that many aspects of the condition remain to be explored.
To navigate your condition, consider consulting with an audiologist or an otolaryngologist who specializes in hereditary hearing loss. These specialists can offer tailored advice and management strategies. Additionally, genetic counseling is recommended to understand the implications of KCNQ4 mutations for you and your family. While there are currently no specific patient organizations for this condition, resources like the National Organization for Rare Disorders (NORD) at rarediseases.org may provide valuable information and support.
Currently, there are no orphan drug designations for this condition. However, there is one active clinical trial related to autosomal dominant nonsyndromic hearing loss 2A. You can find more details about this trial by searching on ClinicalTrials.gov at the following link: https://clinicaltrials.gov/search?cond=autosomal%20dominant%20nonsyndromic%20hearing%20loss%202A. This trial may provide insights into potential future treatments.
Actionable guidance for navigating care for autosomal dominant nonsyndromic hearing loss 2A
To navigate your condition, consider consulting with an audiologist or an otolaryngologist who specializes in hereditary hearing loss. These specialists can offer tailored advice and management strategies. Additionally, genetic counseling is recommended to understand the implications of KCNQ4 mutations for you and your family. While there are currently no specific patient organizations for this condition, resources like the National Organization for Rare Disorders (NORD) at rarediseases.org may provide valuable information and support.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Inheritance patterns describe how genetic conditions are passed from parents to children.
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Jan 6, 2026
Consider asking your healthcare providers these condition-specific questions
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
AI-Generated Content: This summary was generated using AI. Always consult with qualified healthcare providers for medical guidance.
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.