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Autosomal recessive nonsyndromic hearing loss 61(DFNB61)

MedGen UID:
462580
•Concept ID:
C3151230
•
Disease or Syndrome
Synonym: DFNB61 Nonsyndromic Hearing Loss and Deafness
 
Gene (location): SLC26A5 (7q22.1)
 
Monarch Initiative: MONDO:0013471
OMIM®: 613865

Definition

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SLC26A5 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

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

GJB2 mutations in Iranian Azeri population with autosomal recessive nonsyndromic hearing loss (ARNSHL): First report of c.238 C>A mutation in Iran.
Abbaspour Rodbaneh E, Panahi M, Rahimi B, Mokabber H, Farajollahi R, Davarnia B
J Clin Lab Anal 2021 Nov;35(11):e24024. Epub 2021 Sep 28 doi: 10.1002/jcla.24024. PMID: 34581455Free PMC Article

Diagnosis

Benefits of Exome Sequencing in Children with Suspected Isolated Hearing Loss.
Van Heurck R, Carminho-Rodrigues MT, Ranza E, Stafuzza C, Quteineh L, Gehrig C, Hammar E, Guipponi M, Abramowicz M, Senn P, Guinand N, Cao-Van H, Paoloni-Giacobino A
Genes (Basel) 2021 Aug 20;12(8) doi: 10.3390/genes12081277. PMID: 34440452Free PMC Article

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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