Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PTPRQ 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.
Documentation on autosomal recessive nonsyndromic hearing loss 84A is limited due to its rarity and the recent identification of the PTPRQ gene as a causative factor. Conditions like these often lack extensive clinical studies, making it challenging to gather comprehensive data on symptoms and management. The variability in expressivity and the overlap with other types of hearing loss further complicate the characterization of this condition.
To navigate your condition effectively, consider consulting with an audiologist who specializes in genetic hearing loss. Genetic counseling is also recommended to understand the implications of PTPRQ mutations for you and your family. While there are currently no identified patient organizations specific to this condition, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information. Additionally, keeping abreast of any emerging research through platforms like ClinicalTrials.gov may be beneficial as understanding of this condition evolves.
Actionable guidance for navigating care for autosomal recessive nonsyndromic hearing loss 84A
To navigate your condition effectively, consider consulting with an audiologist who specializes in genetic hearing loss. Genetic counseling is also recommended to understand the implications of PTPRQ mutations for you and your family. While there are currently no identified patient organizations specific to this condition, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information. Additionally, keeping abreast of any emerging research through platforms like ClinicalTrials.gov may be beneficial as understanding of this condition evolves.
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.
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.