Details of Disease | DrugMAP

General Information of Disease (ID: DISRAL84)

Disease Name	Usher syndrome type 3
Synonyms	USH3; Usher syndrome type 3
Definition	A syndrome characterized by postlingual progressive hearing loss, abnormalities in the vestibular system, and onset of retinitis pigmentosa symptoms usually by the second decade of life.
Disease Hierarchy	DIS9YIS7: Usher syndrome DISRAL84: Usher syndrome type 3
Disease Identifiers	MONDO ID MONDO_0016485 MESH ID D052245 UMLS CUI C1568248 MedGen ID 339336 Orphanet ID 231183 SNOMED CT ID 1010610007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
USH2A	TTVCLLA	Limited	Genetic Variation	[1]
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This Disease Is Related to 8 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PCDH15	OTU9C2EH	Limited	Biomarker	[2]
ARSG	OTT7TDW7	Supportive	Autosomal recessive	[3]
CEP78	OTTAI5S2	Supportive	Autosomal recessive	[4]
HARS1	OTHOEOTS	Supportive	Autosomal recessive	[5]
ABHD12	OTDP4F02	Strong	Genetic Variation	[6]
GPR171	OTYDO1U7	Strong	Genetic Variation	[7]
MYO7A	OTBZSPEL	Strong	Biomarker	[8]
CLRN1	OT1ADI7Q	Definitive	Autosomal recessive	[9]
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⏷ Show the Full List of 8 DOT(s)

References

1	Retinal disease in Usher syndrome III caused by mutations in the clarin-1 gene.Invest Ophthalmol Vis Sci. 2008 Jun;49(6):2651-60. doi: 10.1167/iovs.07-1505. Epub 2008 Feb 15.
2	Development of novel aminoglycoside (NB54) with reduced toxicity and enhanced suppression of disease-causing premature stop mutations.J Med Chem. 2009 May 14;52(9):2836-45. doi: 10.1021/jm801640k.
3	A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans. Genet Med. 2018 Sep;20(9):1004-1012. doi: 10.1038/gim.2017.227. Epub 2018 Jan 4.
4	CEP78 is mutated in a distinct type of Usher syndrome. J Med Genet. 2017 Mar;54(3):190-195. doi: 10.1136/jmedgenet-2016-104166. Epub 2016 Sep 14.
5	Genetic mapping and exome sequencing identify variants associated with five novel diseases. PLoS One. 2012;7(1):e28936. doi: 10.1371/journal.pone.0028936. Epub 2012 Jan 17.
6	A novel ABHD12 nonsense variant in Usher syndrome type 3 family with genotype-phenotype spectrum review.Gene. 2019 Jul 1;704:113-120. doi: 10.1016/j.gene.2019.04.008. Epub 2019 Apr 8.
7	Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3. Am J Hum Genet. 2001 Oct;69(4):673-84. doi: 10.1086/323610. Epub 2001 Aug 27.
8	Identification of a rat model for usher syndrome type 1B by N-ethyl-N-nitrosourea mutagenesis-driven forward genetics.Genetics. 2005 Aug;170(4):1887-96. doi: 10.1534/genetics.105.044222. Epub 2005 Jun 18.
9	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.