General Information of Disease (ID: DIS9V2II)

Disease Name Autosomal dominant nonsyndromic hearing loss 4B
Synonyms
deafness, autosomal dominant 4B; autosomal dominant deafness 4B; deafness, autosomal dominant 4b; autosomal dominant nonsyndromic deafness caused by mutation in CEACAM16; autosomal dominant nonsyndromic deafness type 4B; DFNA4B; deafness, autosomal dominant type 4B; autosomal dominant nonsyndromic deafness 4B; CEACAM16 autosomal dominant nonsyndromic deafness
Definition Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CEACAM16 gene.
Disease Hierarchy
DISYC1G0: Autosomal dominant nonsyndromic hearing loss
DIS9V2II: Autosomal dominant nonsyndromic hearing loss 4B
Disease Identifiers
MONDO ID
MONDO_0013823
UMLS CUI
C3281297
OMIM ID
614614
MedGen ID
482927

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CEACAM16 OTUMUSY0 Strong Autosomal dominant [1]
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References

1 Carcinoembryonic antigen-related cell adhesion molecule 16 interacts with alpha-tectorin and is mutated in autosomal dominant hearing loss (DFNA4). Proc Natl Acad Sci U S A. 2011 Mar 8;108(10):4218-23. doi: 10.1073/pnas.1005842108. Epub 2011 Feb 22.