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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.
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

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Mahdieh N, Rabbani B
Int J Audiol 2009;48(6):363-70. doi: 10.1080/14992020802607449. PMID: 19925344

Diagnosis

Mahdieh N, Rabbani B
Int J Audiol 2009;48(6):363-70. doi: 10.1080/14992020802607449. PMID: 19925344
Cohn ES, Kelley PM
Am J Med Genet 1999 Sep 24;89(3):130-6. PMID: 10704187

Therapy

Mahdieh N, Rabbani B
Int J Audiol 2009;48(6):363-70. doi: 10.1080/14992020802607449. PMID: 19925344

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