Details of Disease

General Information of Disease (ID: DISB4SRG)

Disease Name Autosomal recessive nonsyndromic hearing loss 1A
Synonyms
deafness, autosomal recessive 1a, autosomal recessive, digenic dominant; autosomal recessive nonsyndromic deafness 1A; connexin 26 deafness; GJB2-related deafness; deafness nonsyndromic, connexin 26 linked; autosomal recessive nonsyndromic deafness type 1A; DFNB1; deafness, autosomal recessive 1A; autosomal recessive deafness 1A; deafness, autosomal recessive type 1A; deafness, digenic, GJB2/GJB3; deafness, digenic, GJB2/GJB6; DFNB1A; autosomal recessive nonsyndromic hearing loss 1A; deafness, digenic GJB2/GJB6, Autosomal recessive, Digenic dominant; deafness, digenic, GJB2/GJB3, Autosomal recessive, Digenic dominant
Definition
An autosomal recessive disorder caused by mutations in the GJB2 gene, encoding gap junction beta-2 protein. The condition is characterized by profound sensorineural hearing loss and may be associated with vestibular dysfunction.
Disease Hierarchy
DIS8G9R9: Hearing loss, autosomal recessive
DISB4SRG: Autosomal recessive nonsyndromic hearing loss 1A
Disease Identifiers
MONDO ID
MONDO_0009076
MESH ID
C567134
UMLS CUI
C2673759
OMIM ID
220290
MedGen ID
388720

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
GJB2 TTRGZX3 Disputed Biomarker [1]
GJB6 TTAU8SJ moderate CausalMutation [2]
GJB3 TTVRQ8L Strong Biomarker [3]
GJB2 TTRGZX3 Definitive Autosomal recessive [4]
------------------------------------------------------------------------------------
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GJB2 OTBKLEYB Definitive Autosomal recessive [4]
------------------------------------------------------------------------------------

References

1 Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel.Genet Med. 2019 Nov;21(11):2442-2452. doi: 10.1038/s41436-019-0535-9. Epub 2019 Jun 4.
2 Immune system disturbances in Clouston syndrome.Int J Dermatol. 2016 May;55(5):e241-9. doi: 10.1111/ijd.13152. Epub 2015 Nov 9.
3 Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment. Nat Genet. 1998 Dec;20(4):370-3. doi: 10.1038/3845.
4 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.