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Autosomal dominant nonsyndromic hearing loss 53(DFNA53)

MedGen UID:
355336
Concept ID:
C1864957
Disease or Syndrome
Synonyms: Autosomal dominant nonsyndromic deafness 53; DEAFNESS, AUTOSOMAL DOMINANT 53; Deafness, autosomal dominant nonsyndromic sensorineural 53
 
Monarch Initiative: MONDO:0012380
OMIM®: 609965

Definition

An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 14q11.2-q12. [from MONDO]

Clinical features

From HPO
Sensorineural hearing loss disorder
MedGen UID:
9164
Concept ID:
C0018784
Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
Abnormal vestibular function
MedGen UID:
334848
Concept ID:
C1843865
Finding
An abnormality of the functioning of the vestibular apparatus.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Lee SY, Choi HB, Park M, Choi IS, An J, Kim A, Kim E, Kim N, Han JH, Kim MY, Lee SM, Oh DY, Kim BJ, Yi N, Kim NKD, Lee C, Park WY, Koh YI, Gee HY, Cho HS, Kang TM, Choi BY
Exp Mol Med 2021 Jul;53(7):1192-1204. Epub 2021 Jul 28 doi: 10.1038/s12276-021-00653-4. PMID: 34316018Free PMC Article

Recent clinical studies

Diagnosis

Van Heurck R, Carminho-Rodrigues MT, Ranza E, Stafuzza C, Quteineh L, Gehrig C, Hammar E, Guipponi M, Abramowicz M, Senn P, Guinand N, Cao-Van H, Paoloni-Giacobino A
Genes (Basel) 2021 Aug 20;12(8) doi: 10.3390/genes12081277. PMID: 34440452Free PMC Article
Lee SY, Choi HB, Park M, Choi IS, An J, Kim A, Kim E, Kim N, Han JH, Kim MY, Lee SM, Oh DY, Kim BJ, Yi N, Kim NKD, Lee C, Park WY, Koh YI, Gee HY, Cho HS, Kang TM, Choi BY
Exp Mol Med 2021 Jul;53(7):1192-1204. Epub 2021 Jul 28 doi: 10.1038/s12276-021-00653-4. PMID: 34316018Free PMC Article
Zhao Y, Zhao F, Zong L, Zhang P, Guan L, Zhang J, Wang D, Wang J, Chai W, Lan L, Li Q, Han B, Yang L, Jin X, Yang W, Hu X, Wang X, Li N, Li Y, Petit C, Wang J, Wang HY, Wang Q
PLoS One 2013;8(7):e69549. Epub 2013 Jul 30 doi: 10.1371/journal.pone.0069549. PMID: 23936043Free PMC Article

Prognosis

Zhao Y, Zhao F, Zong L, Zhang P, Guan L, Zhang J, Wang D, Wang J, Chai W, Lan L, Li Q, Han B, Yang L, Jin X, Yang W, Hu X, Wang X, Li N, Li Y, Petit C, Wang J, Wang HY, Wang Q
PLoS One 2013;8(7):e69549. Epub 2013 Jul 30 doi: 10.1371/journal.pone.0069549. PMID: 23936043Free PMC Article

Clinical prediction guides

Zhao Y, Zhao F, Zong L, Zhang P, Guan L, Zhang J, Wang D, Wang J, Chai W, Lan L, Li Q, Han B, Yang L, Jin X, Yang W, Hu X, Wang X, Li N, Li Y, Petit C, Wang J, Wang HY, Wang Q
PLoS One 2013;8(7):e69549. Epub 2013 Jul 30 doi: 10.1371/journal.pone.0069549. PMID: 23936043Free PMC Article

Supplemental Content

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    Clinical resources

    Practice guidelines

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