Autosomal recessive nonsyndromic hearing loss 53(DFNB53)

MedGen UID:: 400602
•Concept ID:: C1864746
•: Disease or Syndrome

Synonym:	Deafness, autosomal recessive 53

Gene (location): Gene(s) directly associated with this condition or phenotype.	COL11A2 (6p21.32)

Monarch Initiative:	MONDO:0012333
OMIM®:	609706

Definition

Autosomal recessive deafness-53 (DFNB53) is characterized by prelingual profound senorineural hearing loss (Chen et al., 2005; Chakchouk et al., 2015). [from OMIM]

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.

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Ear malformation
- Sensorineural hearing loss disorder

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVHereditary hearing loss and deafness

Hereditary hearing loss and deafness
- Nonsyndromic genetic hearing loss
  - Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive
    - Autosomal recessive nonsyndromic hearing loss 53

Recent clinical studies

Clinical prediction guides

A novel autosomal recessive non-syndromic deafness locus (DFNB35) maps to 14q24.1-14q24.3 in large consanguineous kindred from Pakistan.

Ansar M, Din MA, Arshad M, Sohail M, Faiyaz-Ul-Haque M, Haque S, Ahmad W, Leal SM
Eur J Hum Genet 2003 Jan;11(1):77-80. doi: 10.1038/sj.ejhg.5200905. PMID: 12529709 Free PMC Article

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Autosomal recessive nonsyndromic hearing loss 53(DFNB53)

Definition

Clinical features

Term Hierarchy

Recent clinical studies

Clinical prediction guides

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Molecular resources

Consumer resources

Reviews

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