Details of Disease

General Information of Disease (ID: DISCJIDF)

Disease Name Autosomal recessive nonsyndromic hearing loss 4
Synonyms
dilated vestibular aqueduct; autosomal recessive nonsyndromic deafness type 4; autosomal recessive deafness 4 with enlarged vestibular aqueduct; autosomal recessive nonsyndromic deafness 4; neurosensory nonsyndromic recessive deafness 4; DFNB4; deafness, autosomal recessive 4, with enlarged vestibular aqueduct; enlarged vestibular aqueduct, digenic; enlarged vestibular aqueduct
Definition
An autosomal recessive nonsyndromic deafness that has material basis in mutation in the SLC26A4 gene on chromosome 7q22. Mutation in the FOXI1 gene has been found to be a rare cause of EVA. EVA may also be rarely caused by digenic inheritance of heterozygous mutations in the SLC26A4 and FOXI1 genes, or in the SLC26A4 and KCNJ10 genes.
Disease Hierarchy
DIS8G9R9: Hearing loss, autosomal recessive
DISCJIDF: Autosomal recessive nonsyndromic hearing loss 4
Disease Identifiers
MONDO ID
MONDO_0010933
MESH ID
C566366
UMLS CUI
C3538946
OMIM ID
600791
MedGen ID
761234

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
KCNJ10 TTG140O Strong Genetic Variation [1]
SLC26A4 TT7X02I Strong Genetic Variation [2]
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This Disease Is Related to 1 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC26A4 DTGUASD Definitive Autosomal recessive [3]
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This Disease Is Related to 5 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
FOXI1 OT2UFOE2 Strong Autosomal recessive [4]
OTOF OTXQMJY8 Strong Biomarker [5]
STRC OT3JQYVJ Strong Biomarker [5]
TMPRSS3 OT0GTO1Z Strong Biomarker [5]
SLC26A4 OTXUTLVS Definitive Autosomal recessive [3]
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References

1 Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome.Am J Hum Genet. 2009 May;84(5):651-7. doi: 10.1016/j.ajhg.2009.04.014. Epub 2009 May 7.
2 Mutation analysis of common deafness genes among 1,201 patients with non-syndromic hearing loss in Shanxi Province.Mol Genet Genomic Med. 2019 Mar;7(3):e537. doi: 10.1002/mgg3.537. Epub 2019 Jan 28.
3 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
4 Acidosis and Deafness in Patients with Recessive Mutations in FOXI1. J Am Soc Nephrol. 2018 Mar;29(3):1041-1048. doi: 10.1681/ASN.2017080840. Epub 2017 Dec 14.
5 Hereditary deafness and phenotyping in humans.Br Med Bull. 2002;63:73-94. doi: 10.1093/bmb/63.1.73.