Details of Disease | DrugMAP

General Information of Disease (ID: DISYES6B)

Disease Name	Autosomal recessive nonsyndromic hearing loss 68
Synonyms	deafness, autosomal recessive 68; autosomal recessive deafness 68; S1PR2 autosomal recessive nonsyndromic deafness; autosomal recessive nonsyndromic deafness 68; autosomal recessive nonsyndromic deafness type 68; DFNB68; autosomal recessive nonsyndromic deafness caused by mutation in S1PR2; autosomal recessive nonsyndromic hearing loss 68
Definition	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the S1PR2 gene.
Disease Hierarchy	DIS8G9R9: Hearing loss, autosomal recessive DISYES6B: Autosomal recessive nonsyndromic hearing loss 68
Disease Identifiers	MONDO ID MONDO_0012485 MESH ID C563669 UMLS CUI C1835854 OMIM ID 610419 MedGen ID 324374

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
S1PR2	TTVSMOH	Strong	Autosomal recessive	[1]
S1PR2	TTVSMOH	Strong	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
S1PR2	OTRTJF29	Strong	Autosomal recessive	[1]
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References

1	Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2. Am J Hum Genet. 2016 Feb 4;98(2):331-8. doi: 10.1016/j.ajhg.2015.12.004. Epub 2016 Jan 21.
2	The conserved p.Arg108 residue in S1PR2 (DFNB68) is fundamental for proper hearing: evidence from a consanguineous Iranian family.BMC Med Genet. 2018 May 18;19(1):81. doi: 10.1186/s12881-018-0598-5.