Details of Disease

General Information of Disease (ID: DISA15TJ)

Disease Name Autosomal recessive nonsyndromic hearing loss 30
Synonyms
autosomal recessive nonsyndromic deafness type 30; MYO3A autosomal recessive nonsyndromic deafness; autosomal recessive nonsyndromic deafness 30; DFNB30; autosomal recessive deafness 30; deafness, autosomal recessive type 30; deafness, autosomal recessive 30; autosomal recessive nonsyndromic deafness caused by mutation in MYO3A; autosomal recessive nonsyndromic hearing loss 30
Definition Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO3A gene.
Disease Hierarchy
DIS8G9R9: Hearing loss, autosomal recessive
DISA15TJ: Autosomal recessive nonsyndromic hearing loss 30
Disease Identifiers
MONDO ID
MONDO_0011774
MESH ID
C564624
UMLS CUI
C1846784
OMIM ID
607101
MedGen ID
335521

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
MYO3A OTPM8PHS Strong Autosomal recessive [1]
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References

1 A mouse model for human hearing loss DFNB30 due to loss of function of myosin IIIA. Mamm Genome. 2011 Apr;22(3-4):170-7. doi: 10.1007/s00335-010-9310-6. Epub 2010 Dec 17.