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Deafness, autosomal recessive 55(DFNB55)

MedGen UID:
355338
Concept ID:
C1864962
Disease or Syndrome
Synonyms: DFNB55
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). [HPO:curators]
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
 
Cytogenetic location: 4q12-q13.2
OMIM®: 609952

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Mey K, Bille M, Cayé-Thomasen P
Acta Otolaryngol 2016 Oct;136(10):1064-8. Epub 2016 May 31 doi: 10.1080/00016489.2016.1185538. PMID: 27241825
Pritchett C, Zwolan T, Huq F, Phillips A, Parmar H, Ibrahim M, Thorne M, Telian S
Laryngoscope 2015 Sep;125(9):2169-74. Epub 2015 Feb 3 doi: 10.1002/lary.25187. PMID: 25647353

Prognosis

Pritchett C, Zwolan T, Huq F, Phillips A, Parmar H, Ibrahim M, Thorne M, Telian S
Laryngoscope 2015 Sep;125(9):2169-74. Epub 2015 Feb 3 doi: 10.1002/lary.25187. PMID: 25647353
Behlouli A, Bonnet C, Abdi S, Bouaita A, Lelli A, Hardelin JP, Schietroma C, Rous Y, Louha M, Cheknane A, Lebdi H, Boudjelida K, Makrelouf M, Zenati A, Petit C
Orphanet J Rare Dis 2014 Apr 17;9:55. doi: 10.1186/1750-1172-9-55. PMID: 24741995Free PMC Article

Clinical prediction guides

Behlouli A, Bonnet C, Abdi S, Bouaita A, Lelli A, Hardelin JP, Schietroma C, Rous Y, Louha M, Cheknane A, Lebdi H, Boudjelida K, Makrelouf M, Zenati A, Petit C
Orphanet J Rare Dis 2014 Apr 17;9:55. doi: 10.1186/1750-1172-9-55. PMID: 24741995Free PMC Article

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