Details of Disease | DrugMAP

General Information of Disease (ID: DISEPSRN)

Disease Name	Autosomal recessive nonsyndromic hearing loss 70
Synonyms	autosomal recessive nonsyndromic deafness 70; DFNB70; deafness, autosomal recessive 70; autosomal recessive nonsyndromic deafness caused by mutation in PNPT1; deafness, autosomal recessive type 70; autosomal recessive nonsyndromic deafness type 70; autosomal recessive deafness 70; PNPT1 autosomal recessive nonsyndromic deafness
Definition	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PNPT1 gene.
Disease Hierarchy	DIS8G9R9: Hearing loss, autosomal recessive DISEPSRN: Autosomal recessive nonsyndromic hearing loss 70
Disease Identifiers	MONDO ID MONDO_0013978 UMLS CUI C1824925 OMIM ID 614934 MedGen ID 760477

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
PNPT1	OTBR2Q0F	Limited	Unknown	[1]
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References

1	A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss. Am J Hum Genet. 2012 Nov 2;91(5):919-27. doi: 10.1016/j.ajhg.2012.09.002. Epub 2012 Oct 18.