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Autosomal dominant nonsyndromic hearing loss 41(DFNA41)

MedGen UID:
330834
Concept ID:
C1842371
Disease or Syndrome
Synonyms: Deafness, autosomal dominant 41; DFNA41 Nonsyndromic Hearing Loss and Deafness
 
Gene (location): P2RX2 (12q24.33)
 
Monarch Initiative: MONDO:0011994
OMIM®: 608224

Definition

Autosomal dominant deafness-41 (DFNA41) is characterized by onset of progressive sensorineural hearing loss usually in the second decade. The hearing loss is severe and ultimately affects all frequencies. Exposure to noise exacerbates the hearing loss, particularly at high frequencies (summary by Yan et al., 2013). [from OMIM]

Clinical features

From HPO
Tinnitus
MedGen UID:
52760
Concept ID:
C0040264
Disease or Syndrome
Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation.
Progressive sensorineural hearing impairment
MedGen UID:
335894
Concept ID:
C1843156
Disease or Syndrome
A progressive form of sensorineural hearing impairment.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Yen TT, Chen IC, Hua MW, Wei CY, Shih KH, Li JL, Lin CH, Hsiao TH, Chen YM, Jiang RS
Genes (Basel) 2021 Oct 27;12(11) doi: 10.3390/genes12111711. PMID: 34828318Free PMC Article

Diagnosis

Azizi Malamiri R, Mohammadi Asl J, Ghanbari F
Iran Biomed J 2021 Sep 1;25(5):368-73. doi: 10.52547/ibj.25.5.368. [Epub ahead of print] PMID: 34425661Free PMC Article

Prognosis

Azizi Malamiri R, Mohammadi Asl J, Ghanbari F
Iran Biomed J 2021 Sep 1;25(5):368-73. doi: 10.52547/ibj.25.5.368. [Epub ahead of print] PMID: 34425661Free PMC Article

Clinical prediction guides

Azizi Malamiri R, Mohammadi Asl J, Ghanbari F
Iran Biomed J 2021 Sep 1;25(5):368-73. doi: 10.52547/ibj.25.5.368. [Epub ahead of print] PMID: 34425661Free PMC Article

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