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Autosomal recessive nonsyndromic hearing loss 1A(DFNB1A)

MedGen UID:
388720
•Concept ID:
C2673759
•
Disease or Syndrome
Synonyms: Connexin 26 deafness; Deafness nonsyndromic, Connexin 26 linked; Deafness, autosomal recessive 1A; DFNB 1 Nonsyndromic Hearing Loss and Deafness; DFNB1A; GJB6-Related DFNB 1 Nonsyndromic Hearing Loss and Deafness; Nonsyndromic Hearing Loss and Deafness, DFNB1
 
Genes (locations): GJB2 (13q12.11); GJB3 (1p34.3); GJB6 (13q12.11)
 
Monarch Initiative: MONDO:0009076
OMIM®: 220290

Definition

Nonsyndromic hearing loss and deafness (DFNB1) is characterized by congenital non-progressive mild-to-profound sensorineural hearing impairment. No other associated medical findings are present. [from GeneReviews]

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.
See: Feature record | Search on this feature
Abnormal vestibular function
MedGen UID:
334848
•Concept ID:
C1843865
•
Finding
An abnormality of the functioning of the vestibular apparatus.
See: Feature record | Search on this feature

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Clinical prediction guides

An autosomal recessive nonsyndromic-hearing-loss locus identified by DNA pooling using two inbred Bedouin kindreds.
Scott DA, Carmi R, Elbedour K, Yosefsberg S, Stone EM, Sheffield VC
Am J Hum Genet 1996 Aug;59(2):385-91. PMID: 8755925Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    Curated

    • NICE, 2019
      Cochlear implants for children and adults with severe to profound deafness (2019 Update)
    • NICE, 2009
      National Institute for Health and Clinical Excellence, Cochlear implants for children and adults with severe to profound deafness, 2009 [See 2019 Update, TA566]

    Reviews

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