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Autosomal dominant nonsyndromic hearing loss 69(DCUA; DFNA69)

MedGen UID:
905882
•Concept ID:
C4225241
•
Disease or Syndrome
Synonyms: Deafness, autosomal dominant 69; Deafness, autosomal dominant 69, unilateral or asymmetric
 
Gene (location): KITLG (12q21.32)
 
Monarch Initiative: MONDO:0014738
OMIM®: 616697

Definition

Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the KITLG 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

Recent clinical studies

Etiology

GJB2 (Cx26) gene mutations in Chinese patients with congenital sensorineural deafness and a report of one novel mutation.
Xiao ZA, Xie DH
Chin Med J (Engl) 2004 Dec;117(12):1797-801. PMID: 15603707

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    • 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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