Details of Disease | DrugMAP

General Information of Disease (ID: DISFFTMA)

Disease Name	Autosomal recessive nonsyndromic hearing loss 98
Synonyms	TSPEAR autosomal recessive nonsyndromic deafness; DFNB98; autosomal recessive nonsyndromic deafness 98; autosomal recessive deafness 98; deafness, autosomal recessive type 98; deafness, autosomal recessive 98; autosomal recessive nonsyndromic deafness type 98; autosomal recessive nonsyndromic deafness caused by mutation in TSPEAR; autosomal recessive nonsyndromic hearing loss 98
Definition	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TSPEAR gene.
Disease Hierarchy	DIS8G9R9: Hearing loss, autosomal recessive DISFFTMA: Autosomal recessive nonsyndromic hearing loss 98
Disease Identifiers	MONDO ID MONDO_0013929 UMLS CUI C3553932 OMIM ID 614861 MedGen ID 766846

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
TSPEAR	OT2LKDD0	Disputed	Autosomal recessive	[1]
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References

1	Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness. Hum Mol Genet. 2012 Sep 1;21(17):3835-44. doi: 10.1093/hmg/dds212. Epub 2012 Jun 7.