An autosomal recessive nonsyndromic deafness that has material basis in mutation in the TMPRSS3 gene on chromosome 21q22.
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 on autosomal recessive nonsyndromic hearing loss 8 is limited primarily due to its rarity and the recent identification of its genetic basis. As this condition affects a small number of individuals, systematic clinical studies have been scarce, leading to gaps in understanding the full spectrum of clinical features.
To navigate your care effectively, consider consulting an audiologist with expertise in genetic hearing loss. Genetic counseling is also recommended, as it can provide insights into family planning and the implications of the TMPRSS3 mutation. While no specific patient organizations are identified, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can offer valuable information. Additionally, inquire about any potential participation in natural history studies that may arise as research develops.
Actionable guidance for navigating care for autosomal recessive nonsyndromic hearing loss 8
To navigate your care effectively, consider consulting an audiologist with expertise in genetic hearing loss. Genetic counseling is also recommended, as it can provide insights into family planning and the implications of the TMPRSS3 mutation. While no specific patient organizations are identified, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can offer valuable information. Additionally, inquire about any potential participation in natural history studies that may arise as research develops.
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.
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