Details of Disease

General Information of Disease (ID: DISD05ZF)

Disease Name Autosomal recessive nonsyndromic hearing loss 79
Synonyms
TPRN autosomal recessive nonsyndromic deafness; autosomal recessive nonsyndromic deafness type 79; autosomal recessive nonsyndromic deafness caused by mutation in TPRN; autosomal recessive nonsyndromic deafness 79; deafness, autosomal recessive type 79; DFNB79; autosomal recessive deafness 79; deafness, autosomal recessive 79; autosomal recessive nonsyndromic hearing loss 79
Definition Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TPRN gene.
Disease Hierarchy
DIS8G9R9: Hearing loss, autosomal recessive
DISD05ZF: Autosomal recessive nonsyndromic hearing loss 79
Disease Identifiers
MONDO ID
MONDO_0013215
MESH ID
C567651
UMLS CUI
C2750082
OMIM ID
613307
MedGen ID
413222

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
TPRN OTNWY6HP Strong Autosomal recessive [1]
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References

1 Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss. Am J Hum Genet. 2010 Mar 12;86(3):479-84. doi: 10.1016/j.ajhg.2010.02.003. Epub 2010 Feb 18.