Details of Disease

Disease Name

Usher syndrome

Graefe-Usher syndrome; Hallgren syndrome; dystrophia retinae pigmentosa-dysostosis syndrome; deafness-retinitis pigmentosa syndrome; retinitis pigmentosa-deafness syndrome; ush; Usher's syndrome

Definition

A syndromic diseae characterized by the association of sensorineural deafness (usually congenital) with retinitis pigmentosa and progressive vision loss.|This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'nervous system disorder' (MONDO:0005071) ontology branch (https://orcid.org/0000-0001-9310-0163) and from the 'metabolic disease' (MONDO:0005066) ontology branch (https://orcid.org/0000-0002-1780-5230)

Disease Hierarchy

DIS6SVEE: Syndromic disease

DISCPWH9: Autosomal recessive disease

DIS9YIS7: Usher syndrome

Disease Identifiers

MONDO ID

MONDO_0019501

MESH ID

D052245

UMLS CUI

C0271097

MedGen ID

78754

Orphanet ID

886

SNOMED CT ID

57838006

General Information of Disease (ID: DIS9YIS7)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CEP250	TTPOA6U	Strong	Genetic Variation	[1]
RCVRN	TTDQTEY	Strong	Biomarker	[2]
RPGR	TTHBDA9	Strong	Genetic Variation	[3]
------------------------------------------------------------------------------------

This Disease Is Related to 29 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
BBS1	OTXSXB1K	Limited	CausalMutation	[4]
CDH23	OTOJGQ7S	Limited	Genetic Variation	[5]
CIB2	OT9ZJX1I	Limited	Biomarker	[6]
CLRN1	OT1ADI7Q	Limited	Altered Expression	[7]
PCDH15	OTU9C2EH	Limited	Genetic Variation	[5]
ADGRV1	OTLVXHHP	moderate	Genetic Variation	[8]
ARSG	OTT7TDW7	moderate	Genetic Variation	[9]
PLD4	OT5I74II	moderate	Biomarker	[10]
ABHD12	OTDP4F02	Strong	Genetic Variation	[11]
CEP78	OTTAI5S2	Strong	Genetic Variation	[12]
ESPN	OT7Z6LX2	Strong	Biomarker	[13]
FADS6	OTCAKYIJ	Strong	Biomarker	[14]
GBX2	OTW0ZI4D	Strong	Biomarker	[15]
HARS1	OTHOEOTS	Strong	Genetic Variation	[5]
IMMT	OTBDSLE7	Strong	Biomarker	[16]
INTS2	OT2N5TCK	Strong	Genetic Variation	[17]
LCA5	OTQTCUWS	Strong	Biomarker	[18]
MYO15A	OTVR4DV8	Strong	Genetic Variation	[19]
MYO5B	OTCKL3W3	Strong	Genetic Variation	[20]
MYO7A	OTBZSPEL	Strong	Genetic Variation	[21]
NINL	OTWIK6HT	Strong	Biomarker	[18]
OMP	OT7JH0DY	Strong	Biomarker	[17]
OTOF	OTXQMJY8	Strong	Biomarker	[22]
PCARE	OTUSRSB5	Strong	Genetic Variation	[23]
PDZD7	OTX3VAOB	Strong	Biomarker	[24]
PEX6	OTFAK5EF	Strong	Biomarker	[25]
PHPT1	OTFYWNFX	Strong	Genetic Variation	[26]
PRPH2	OTNH2G5H	Strong	Genetic Variation	[27]
STATH	OTQHBHM9	Strong	Genetic Variation	[28]
------------------------------------------------------------------------------------


⏷ Show the Full List of 29 DOT(s)

References

1	CEP250 mutations associated with mild cone-rod dystrophy and sensorineural hearing loss in a Japanese family.Ophthalmic Genet. 2018 Aug;39(4):500-507. doi: 10.1080/13816810.2018.1466338. Epub 2018 May 2.
2	Evaluation of the human gene encoding recoverin in patients with retinitis pigmentosa or an allied disease.Invest Ophthalmol Vis Sci. 1997 Mar;38(3):704-9.
3	Autosomal recessive retinitis pigmentosa with RP1 mutations is associated with myopia.Br J Ophthalmol. 2015 Oct;99(10):1360-5. doi: 10.1136/bjophthalmol-2014-306224. Epub 2015 Apr 16.
4	Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.Sci Rep. 2019 Feb 4;9(1):1219. doi: 10.1038/s41598-018-38007-2.
5	Targeted next generation sequencing in Italian patients with Usher syndrome: phenotype-genotype correlations.Sci Rep. 2017 Nov 15;7(1):15681. doi: 10.1038/s41598-017-16014-z.
6	Variants in CIB2 cause DFNB48 and not USH1J.Clin Genet. 2018 Apr;93(4):812-821. doi: 10.1111/cge.13170. Epub 2018 Feb 12.
7	Clarin-1 expression in adult mouse and human retina highlights a role of Mller glia in Usher syndrome.J Pathol. 2020 Feb;250(2):195-204. doi: 10.1002/path.5360. Epub 2019 Dec 4.
8	Novel Usher syndrome pathogenic variants identified in cases with hearing and vision loss.BMC Med Genet. 2019 May 2;20(1):68. doi: 10.1186/s12881-019-0777-z.
9	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.
10	Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.Am J Hum Genet. 2017 Jan 5;100(1):75-90. doi: 10.1016/j.ajhg.2016.12.003. Epub 2016 Dec 29.
11	Comprehensive Molecular Screening in Chinese Usher Syndrome Patients.Invest Ophthalmol Vis Sci. 2018 Mar 1;59(3):1229-1237. doi: 10.1167/iovs.17-23312.
12	Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects. Am J Hum Genet. 2016 Sep 1;99(3):770-776. doi: 10.1016/j.ajhg.2016.07.009.
13	Identification of whirlin domains interacting with espin: A study of the mechanism of Usher syndrome typeII.Mol Med Rep. 2019 Dec;20(6):5111-5117. doi: 10.3892/mmr.2019.10728. Epub 2019 Oct 7.
14	A novel stress hormone response gene in tadpoles of Xenopus tropicalis.Gen Comp Endocrinol. 2018 May 1;260:107-114. doi: 10.1016/j.ygcen.2018.01.006. Epub 2018 Jan 12.
15	Elongation factor 1 alpha1 and genes associated with Usher syndromes are downstream targets of GBX2.PLoS One. 2012;7(11):e47366. doi: 10.1371/journal.pone.0047366. Epub 2012 Nov 8.
16	Human myosin VIIa is a very slow processive motor protein on various cellular actin structures.J Biol Chem. 2017 Jun 30;292(26):10950-10960. doi: 10.1074/jbc.M116.765966. Epub 2017 May 15.
17	Genetic mapping of the gene for Usher syndrome: linkage analysis in a large Samaritan kindred.Genomics. 1994 Mar 1;20(1):36-42. doi: 10.1006/geno.1994.1124.
18	Usher syndrome and Leber congenital amaurosis are molecularly linked via a novel isoform of the centrosomal ninein-like protein.Hum Mol Genet. 2009 Jan 1;18(1):51-64. doi: 10.1093/hmg/ddn312. Epub 2008 Sep 30.
19	Targeted next generation sequencing for molecular diagnosis of Usher syndrome.Orphanet J Rare Dis. 2014 Nov 18;9:168. doi: 10.1186/s13023-014-0168-7.
20	An overview and online registry of microvillus inclusion disease patients and their MYO5B mutations.Hum Mutat. 2013 Dec;34(12):1597-605. doi: 10.1002/humu.22440. Epub 2013 Oct 16.
21	Identification of four novel mutations in MYO7A gene and their association with nonsyndromic deafness and Usher Syndrome 1B.Int J Pediatr Otorhinolaryngol. 2019 May;120:166-172. doi: 10.1016/j.ijporl.2019.02.021. Epub 2019 Feb 11.
22	Mouse models for human hereditary deafness.Curr Top Dev Biol. 2008;84:385-429. doi: 10.1016/S0070-2153(08)00608-X.
23	A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome. J Med Genet. 2014 Jul;51(7):460-9. doi: 10.1136/jmedgenet-2014-102287. Epub 2014 Apr 29.
24	Confirmation of PDZD7 as a Nonsyndromic Hearing Loss Gene.Ear Hear. 2016 Jul-Aug;37(4):e238-46. doi: 10.1097/AUD.0000000000000278.
25	A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents.Am J Hum Genet. 2002 Apr;70(4):1062-8. doi: 10.1086/339766. Epub 2002 Feb 28.
26	Gene Transfer with AAV9-PHP.B Rescues Hearing in a Mouse Model of Usher Syndrome 3A and Transduces Hair Cells in a Non-human Primate.Mol Ther Methods Clin Dev. 2018 Nov 20;13:1-13. doi: 10.1016/j.omtm.2018.11.003. eCollection 2019 Jun 14.
27	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.
28	Genetic analysis through OtoSeq of Pakistani families segregating prelingual hearing loss.Otolaryngol Head Neck Surg. 2013 Sep;149(3):478-87. doi: 10.1177/0194599813493075. Epub 2013 Jun 14.