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Deafness, autosomal recessive 16(DFNB16)

MedGen UID:
350211
Concept ID:
C1863561
Disease or Syndrome
Synonyms: DFNB16; DFNB16 Nonsyndromic Hearing Loss and Deafness
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).
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 recessive inheritance (HPO, OMIM, Orphanet)
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
 
Gene (location): STRC (15q15.3)
OMIM®: 603720

Authors:
A Eliot Shearer  |  Michael S Hildebrand  |  Richard JH Smith   view full author information

Clinical features

Sensorineural hearing loss
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.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Diagnosis

Ghasemnejad T, Shekari Khaniani M, Zarei F, Farbodnia M, Mansoori Derakhshan S
Int J Pediatr Otorhinolaryngol 2017 Jun;97:113-126. Epub 2017 Apr 6 doi: 10.1016/j.ijporl.2017.04.007. PMID: 28483220
Vona B, Hofrichter MA, Neuner C, Schröder J, Gehrig A, Hennermann JB, Kraus F, Shehata-Dieler W, Klopocki E, Nanda I, Haaf T
Clin Genet 2015;87(1):49-55. Epub 2014 Jan 21 doi: 10.1111/cge.12332. PMID: 26011646Free PMC Article

Prognosis

Vona B, Hofrichter MA, Neuner C, Schröder J, Gehrig A, Hennermann JB, Kraus F, Shehata-Dieler W, Klopocki E, Nanda I, Haaf T
Clin Genet 2015;87(1):49-55. Epub 2014 Jan 21 doi: 10.1111/cge.12332. PMID: 26011646Free PMC Article

Clinical prediction guides

Vona B, Hofrichter MA, Neuner C, Schröder J, Gehrig A, Hennermann JB, Kraus F, Shehata-Dieler W, Klopocki E, Nanda I, Haaf T
Clin Genet 2015;87(1):49-55. Epub 2014 Jan 21 doi: 10.1111/cge.12332. PMID: 26011646Free PMC Article

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