Auditory neuropathy, autosomal dominant 3

Summary

Autosomal dominant auditory neuropathy-3 (AUNA3) is characterized by progressive hearing loss with inability to discriminate speech but preserved sensitivity to sound (Jang et al., 2021). For a discussion of genetic heterogeneity of autosomal dominant auditory neuropathy, see AUNA1 (609129). [from OMIM]

Available tests

5 tests are in the database for this condition.

Clinical tests (5 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

Associated genes Help
Genes reported to contribute to the condition.

TMEM43
158 tests
Also known as: ARVC5, ARVD5, AUNA3, EDMD7, EDMD7; AUNA2, LUMA, TMEM43
Summary: transmembrane protein 43

Imported from Human Phenotype Ontology (HPO)

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Ear malformation
- Abnormal speech discrimination
  Abnormal speech discrimination
  - MedGen UID: 322986
  - Concept ID: C1836752
  - Finding: Finding
  Ear malformation
  See: Feature record | Search on this feature
- Hearing impairment
  Hearing impairment
  - MedGen UID: 235586
  - Concept ID: C1384666
  - Finding: Disease or Syndrome
  Ear malformation
  See: Feature record | Search on this feature

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Clinical resources

Molecular resources

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