Autosomal recessive nonsyndromic hearing loss 1A
Autosomal recessive nonsyndromic hearing loss 1A
Definition
An autosomal recessive disorder caused by mutations in the GJB2 gene, encoding gap junction beta-2 protein. The condition is characterized by profound sensorineural hearing loss and may be associated with vestibular dysfunction.
Also known as autosomal recessive nonsyndromic hearing loss 1A, GJB2-AR NSHL, GJB2-related autosomal recessive nonsyndromic hearing loss — per MONDO
Also identified as
- DOID 0110475 per MONDO
- MESH C567134 per MONDO
- NCIT C129022 per MONDO
- OMIM 220290 per MONDO
- UMLS C2673759 per MONDO
Affected Organs
| Organ | Involvement | Source |
|---|---|---|
| Craniocervical region | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Craniocervical region | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |
| Ear | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Ear | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |