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Autosomal recessive nonsyndromic hearing loss 89(DFNB89)

MedGen UID:
462701
•Concept ID:
C3151351
•
Disease or Syndrome
Synonym: Deafness, autosomal recessive 89
 
Gene (location): KARS1 (16q23.1)
 
Monarch Initiative: MONDO:0013489
OMIM®: 613916

Definition

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the KARS gene. [from MONDO]

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
Vestibular hyporeflexia
MedGen UID:
336378
•Concept ID:
C1848606
•
Finding
A general descriptive term that describes impaired functioning of the vestibular apparatus that leads to manifestations such as dizziness or postural imbalance
See: Feature record | Search on this feature

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Statistical study of 35delG mutation of GJB2 gene: a meta-analysis of carrier frequency.
Mahdieh N, Rabbani B
Int J Audiol 2009;48(6):363-70. doi: 10.1080/14992020802607449. PMID: 19925344

Diagnosis

Statistical study of 35delG mutation of GJB2 gene: a meta-analysis of carrier frequency.
Mahdieh N, Rabbani B
Int J Audiol 2009;48(6):363-70. doi: 10.1080/14992020802607449. PMID: 19925344
Clinical phenotype and mutations in connexin 26 (DFNB1/GJB2), the most common cause of childhood hearing loss.
Cohn ES, Kelley PM
Am J Med Genet 1999 Sep 24;89(3):130-6. PMID: 10704187

Therapy

Statistical study of 35delG mutation of GJB2 gene: a meta-analysis of carrier frequency.
Mahdieh N, Rabbani B
Int J Audiol 2009;48(6):363-70. doi: 10.1080/14992020802607449. PMID: 19925344

Supplemental Content

Table of contents

    Clinical resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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