Format

Send to:

Choose Destination

Deafness, autosomal dominant 59(DFNA59)

MedGen UID:
390743
Concept ID:
C2675238
Disease or Syndrome
Synonyms: DFNA59
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
 
Cytogenetic location: 11p14.2-q12.3
OMIM®: 612642

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Zhao Y, Hosono K, Suto K, Ishigami C, Arai Y, Hikoya A, Hirami Y, Ohtsubo M, Ueno S, Terasaki H, Sato M, Nakanishi H, Endo S, Mizuta K, Mineta H, Kondo M, Takahashi M, Minoshima S, Hotta Y
J Hum Genet 2014 Sep;59(9):521-8. Epub 2014 Jul 31 doi: 10.1038/jhg.2014.65. PMID: 25078356
Sanyal SK, Kaul KK, Hussein A, Wilroy RS, Agarwal K, Sohel S
Cardiol Young 2013 Aug;23(4):530-9. Epub 2013 May 13 doi: 10.1017/S1047951113000164. PMID: 23668803

Diagnosis

Cesca F, Bettella E, Polli R, Cama E, Scimemi P, Santarelli R, Murgia A
Int J Pediatr Otorhinolaryngol 2018 Jan;104:88-93. Epub 2017 Oct 31 doi: 10.1016/j.ijporl.2017.10.042. PMID: 29287889
Wells C, Loundon N, Garabedian N, Wiener-Vacher S, Cordier-Bouvier MD, Goudeffroye G, Attié-Bitach T, Marlin S
Eur J Med Genet 2016 Apr;59(4):195-7. Epub 2016 Feb 24 doi: 10.1016/j.ejmg.2016.02.012. PMID: 26921530
Zeviani M, Tiranti V, Piantadosi C
Medicine (Baltimore) 1998 Jan;77(1):59-72. doi: 10.1097/00005792-199801000-00006. PMID: 9465864

Prognosis

Cesca F, Bettella E, Polli R, Cama E, Scimemi P, Santarelli R, Murgia A
Int J Pediatr Otorhinolaryngol 2018 Jan;104:88-93. Epub 2017 Oct 31 doi: 10.1016/j.ijporl.2017.10.042. PMID: 29287889
Sanyal SK, Kaul KK, Hussein A, Wilroy RS, Agarwal K, Sohel S
Cardiol Young 2013 Aug;23(4):530-9. Epub 2013 May 13 doi: 10.1017/S1047951113000164. PMID: 23668803

Clinical prediction guides

Cesca F, Bettella E, Polli R, Cama E, Scimemi P, Santarelli R, Murgia A
Int J Pediatr Otorhinolaryngol 2018 Jan;104:88-93. Epub 2017 Oct 31 doi: 10.1016/j.ijporl.2017.10.042. PMID: 29287889
Zhao Y, Hosono K, Suto K, Ishigami C, Arai Y, Hikoya A, Hirami Y, Ohtsubo M, Ueno S, Terasaki H, Sato M, Nakanishi H, Endo S, Mizuta K, Mineta H, Kondo M, Takahashi M, Minoshima S, Hotta Y
J Hum Genet 2014 Sep;59(9):521-8. Epub 2014 Jul 31 doi: 10.1038/jhg.2014.65. PMID: 25078356
Tekin M, Arnos KS, Xia XJ, Oelrich MK, Liu XZ, Nance WE, Pandya A
Clin Genet 2001 Apr;59(4):269-73. PMID: 11298683

Supplemental Content

Table of contents

    Clinical resources

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...
    Support Center