Details of Disease | DrugMAP

General Information of Disease (ID: DISR29E4)

Disease Name	Usher syndrome type 1
Synonyms	USHER syndrome, type I; USH1A; Usher syndrome, type Ia, formerly; Usher syndrome, type 1A; Usher syndrome, type I, French variety; Usher syndrome, type 1B; Usher syndrome, type Ia; Usher syndrome, type I, French variety, formerly; USH1; US1; retinitis pigmentosa and congenital deafness; Usher syndrome type 1; Usher syndrome, type 1
Definition	A syndrome characterized by congenital, bilateral, severe sensorineural hearing loss, abnormalities in the vestibular system, and adolescent-onset retinitis pigmentosa.
Disease Hierarchy	DIS9YIS7: Usher syndrome DISR29E4: Usher syndrome type 1
Disease Identifiers	MONDO ID MONDO_0010168 UMLS CUI C1568247 OMIM ID 276900 MedGen ID 292820 Orphanet ID 231169 SNOMED CT ID 232057003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 12 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
USH1C	OTFB6V34	Definitive	Autosomal recessive	[1]
USH1G	OTLM6717	Definitive	Autosomal recessive	[1]
CIB2	OT9ZJX1I	Supportive	Autosomal recessive	[3]
ESPN	OT7Z6LX2	Supportive	Autosomal recessive	[4]
ADGRV1	OTLVXHHP	Strong	Genetic Variation	[5]
OTOP2	OTDXHLKN	Strong	Genetic Variation	[5]
PRPH2	OTNH2G5H	Strong	Biomarker	[6]
CDH23	OTOJGQ7S	Definitive	Autosomal recessive	[1]
GNAT2	OTD9Y4UH	Definitive	Genetic Variation	[7]
MYO7A	OTBZSPEL	Definitive	Autosomal recessive	[1]
OMP	OT7JH0DY	Definitive	Biomarker	[8]
PCDH15	OTU9C2EH	Definitive	Autosomal recessive	[1]
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⏷ Show the Full List of 12 DOT(s)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
USH2A	TTVCLLA	Strong	Genetic Variation	[2]
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References

1	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.
2	CLINICAL PRESENTATION AND DISEASE COURSE OF USHER SYNDROME BECAUSE OF MUTATIONS IN MYO7A OR USH2A.Retina. 2017 Aug;37(8):1581-1590. doi: 10.1097/IAE.0000000000001389.
3	Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48. Nat Genet. 2012 Nov;44(11):1265-71. doi: 10.1038/ng.2426. Epub 2012 Sep 30.
4	Inframe deletion of human ESPN is associated with deafness, vestibulopathy and vision impairment. J Med Genet. 2018 Jul;55(7):479-488. doi: 10.1136/jmedgenet-2017-105221. Epub 2018 Mar 23.
5	Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.Orphanet J Rare Dis. 2011 May 11;6:21. doi: 10.1186/1750-1172-6-21.
6	Combination of retinitis pigmentosa and hearing loss caused by a novel mutation in PRPH2 and a known mutation in GJB2: importance for differential diagnosis of Usher syndrome.Vision Res. 2012 Dec 15;75:71-6. doi: 10.1016/j.visres.2012.07.011. Epub 2012 Jul 25.
7	Detection of cone alpha transducin mRNA in human fetal cochlea: negative mutation analysis in Usher syndrome.Hear Res. 1996 Sep 15;99(1-2):7-12. doi: 10.1016/s0378-5955(96)00073-1.
8	Human olfactory marker protein maps close to tyrosinase and is a candidate gene for Usher syndrome type I.Hum Mol Genet. 1993 Feb;2(2):115-8. doi: 10.1093/hmg/2.2.115.