Details of Disease | DrugMAP

General Information of Disease (ID: DISX8RZZ)

Disease Name	Autosomal dominant nonsyndromic hearing loss 64
Synonyms	deafness, autosomal dominant type 64; autosomal dominant nonsyndromic deafness type 64; DFNA64; deafness, autosomal dominant 64; DIABLO autosomal dominant nonsyndromic deafness; autosomal dominant nonsyndromic deafness 64; autosomal dominant nonsyndromic deafness caused by mutation in DIABLO; autosomal dominant deafness 64
Definition	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the DIABLO gene.
Disease Hierarchy	DISYC1G0: Autosomal dominant nonsyndromic hearing loss DISX8RZZ: Autosomal dominant nonsyndromic hearing loss 64
Disease Identifiers	MONDO ID MONDO_0013593 UMLS CUI C3279948 OMIM ID 614152 MedGen ID 481578

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
DIABLO	TTN74LE	Moderate	Autosomal dominant	[1]
DIABLO	TTN74LE	moderate	Biomarker	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DIABLO	OTHJ9MCZ	Moderate	Autosomal dominant	[1]
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References

1	Functional mutation of SMAC/DIABLO, encoding a mitochondrial proapoptotic protein, causes human progressive hearing loss DFNA64. Am J Hum Genet. 2011 Jul 15;89(1):56-66. doi: 10.1016/j.ajhg.2011.05.027. Epub 2011 Jun 30.
2	Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.Hum Genet. 2016 Apr;135(4):441-450. doi: 10.1007/s00439-016-1648-8. Epub 2016 Mar 11.