Hearing loss, autosomal dominant 82

Synonyms: Deafness, autosomal dominant 82

Summary

Autosomal dominant deafness-82 (DFNA82) is characterized by onset of rapidly progressive bilateral sensorineural hearing loss usually early in the first decade, although later onset may rarely occur. Affected individuals often pass the newborn screening test before the onset of mild to profound hearing loss (Smits et al., 2019). [from OMIM]

Available tests

2 tests are in the database for this condition.

Clinical tests (2 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

Associated genes Help
Genes reported to contribute to the condition.

ATP2B2
18 tests
Also known as: DFNA82, PMCA2, PMCA2a, PMCA2i, ATP2B2
Summary: ATPase plasma membrane Ca2+ transporting 2

Imported from Human Phenotype Ontology (HPO)

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Ear malformation
- Sensorineural hearing loss disorder
  Sensorineural hearing loss disorder
  - MedGen UID: 9164
  - Concept ID: C0018784
  - Finding: Disease or Syndrome
  Ear malformation
  See: Feature record | Search on this feature
- Tinnitus
  Tinnitus
  - MedGen UID: 52760
  - Concept ID: C0040264
  - Finding: Disease or Syndrome
  Ear malformation
  See: Feature record | Search on this feature

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