MCID: USH001
MIFTS: 54

Usher Syndrome malady

Genetic diseases, Rare diseases, Eye diseases, Ear diseases, Fetal diseases categories

Summaries for Usher Syndrome

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22Genetics Home Reference, 44NIH Rare Diseases, 35MedlinePlus, 66Wikipedia, 48OMIM, 34MalaCards
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MedlinePlus:35 Usher syndrome is an inherited disease that causes serious hearing loss and retinitis pigmentosa, an eye disorder that causes your vision to get worse over time. it is the most common condition that affects both hearing and vision. there are three types of usher syndrome: people with type i are deaf from birth and have severe balance problems from a young age. vision problems usually start by age 10 and lead to blindness. people with type ii have moderate to severe hearing loss and normal balance. vision problems start in the early teens and get worse more slowly than in type i. people with type iii are born with normal hearing and near-normal balance but develop vision problems and then hearing loss. there is no cure. tools such as hearing aids or cochlear implants can help some people. training such as braille instruction, low-vision services, or auditory training can also help. nih: national institute on deafness and other communication disorders

MalaCards: Usher Syndrome, also known as retinitis pigmentosa-deafness syndrome, is related to usher syndrome type i and usher syndrome type 2d. An important gene associated with Usher Syndrome is USH2A (Usher syndrome 2A (autosomal recessive, mild)). Affiliated tissues include retina, eye and bone, and related mouse phenotypes are behavior/neurological and hearing/vestibular/ear.

Genetics Home Reference:22 Usher syndrome is a condition characterized by hearing loss or deafness and progressive vision loss. The loss of vision is caused by an eye disease called retinitis pigmentosa (RP), which affects the layer of light-sensitive tissue at the back of the eye (the retina). Vision loss occurs as the light-sensing cells of the retina gradually deteriorate. Night vision loss begins first, followed by blind spots that develop in the side (peripheral) vision. Over time, these blind spots enlarge and merge to produce tunnel vision. In some cases of Usher syndrome, vision is further impaired by clouding of the lens of the eye (cataracts). Many people with retinitis pigmentosa retain some central vision throughout their lives, however.

NIH Rare Diseases:44 Usher syndrome is a genetic condition characterized by hearing loss or deafness, and progressive vision loss due to retinitis pigmentosa. three major types of usher syndrome have been described - types i, ii, and iii.  the different types are distinguished by their severity and the age when signs and symptoms appear. all three types are inherited in an autosomal recessive manner, which means both copies of the disease-causing gene in each cell have mutations. last updated: 3/3/2014

Wikipedia:66 Usher syndrome is a relatively rare genetic disorder caused by a mutation in any one of 10 genes... more...

Description from OMIM:48 276902, 611383, 606943, 601067, 276900 276901, 605472, 276904, 602083 more

Aliases & Classifications for Usher Syndrome

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9Disease Ontology, 66Wikipedia, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 11DISEASES, 46Novoseek, 35MedlinePlus, 63UMLS, 48OMIM, 36MeSH
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Classifications:



Aliases & Descriptions:

usher syndrome 9 66 44 22 11 46 35 63
retinitis pigmentosa-deafness syndrome 66 44 23 22
dystrophia retinae pigmentosa-dysostosis syndrome 66 44 22
deafness-retinitis pigmentosa syndrome 66 44 22
graefe-usher syndrome 66 44 22
hallgren syndrome 66 44 22
usher's syndrome 44 21 22
retinitis pigmentosa-deafness-ataxia syndrome 63
retinitis pigmentosa 21, formerly 44
retinitis pigmentosa 8, formerly 44
rp21, formerly 44
rp8, formerly 44


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Disease Ontology9 DOID:0050439
MeSH36 D052245

Related Diseases for Usher Syndrome

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18GeneCards, 19GeneDecks
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Diseases in the Usher Syndrome Type 2a family:

usher syndrome Usher Syndrome Type I
Usher Syndrome Type Ii Usher Syndrome Type 3
Usher Syndrome, Type 1b Usher Syndrome, Type 1c
Usher Syndrome, Type 1d Usher Syndrome, Type 1e
Usher Syndrome, Type 1f Usher Syndrome, Type 2b
Usher Syndrome, Type 2c Usher Syndrome Type 1g
Usher Syndrome Type 1h Usher Syndrome Type 3b
Usher Syndrome Type 1j Usher Syndrome Type 1k
Usher Syndrome Type 2d Usher Syndrome Type 3a
Usher Syndrome, Type Ik Usher Syndrome, Type Ij

Diseases related to Usher Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 62)
idRelated DiseaseScoreTop Affiliating Genes
1usher syndrome type i31.1PCDH15, MYO7A, USH1G, USH1C
2usher syndrome type 2d30.8USH2A, GPR98
3nonsyndromic deafness30.4MYO7A, PCDH15, USH1C
4usher syndrome type ii10.8
5retinitis10.7
6usher syndrome, type 1b10.7
7usher syndrome type 2a10.7
8usher syndrome, type 1c10.6
9usher syndrome, type 1d10.6
10retinitis pigmentosa10.6
11usher syndrome, type 1f10.6
12usher syndrome, type 2c10.6
13usher syndrome type 310.5
14usher syndrome type 1g10.5
15usher syndrome type 3a10.5
16pemphigus10.4
17usher syndrome, type 1e10.4
18usher syndrome type 3b10.4
19pemphigus erythematosus10.4
20usher syndrome type 1j10.4
21retinal disease10.3
22usher syndrome, type 2b10.3
23usher syndrome type 1h10.3
24usher syndrome, type ij10.3
25choroideremia10.3
26uveitis10.3
27usher syndrome, type 2c, gpr98/pdzd7 digenic10.3
28fuchs' heterochromic uveitis10.2
29lupus erythematosus10.2
30usher syndrome type 1k10.2
31usher syndrome, type ik10.2
32usher syndrome, type 1d/f digenic10.2
33retinal disease in usher syndrome type iia, modifier of10.2
34alstrom syndrome10.1
35dfnb110.0MYO7A
36bardet-biedl syndrome10.0
37charge syndrome10.0
38bronchiectasis10.0
39neuronitis10.0
40macular holes10.0
41hyperinsulinism10.0
42leber congenital amaurosis10.0
43adenoma10.0
44asthma10.0
45bipolar disorder10.0
46cataract10.0
47dermatitis10.0
48dermatitis herpetiformis10.0
49factitious disorder10.0
50labyrinthitis10.0

Graphical network of the top 20 diseases related to Usher Syndrome:



Diseases related to usher syndrome

Symptoms for Usher Syndrome

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48OMIM
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Clinical features from OMIM:

276902,611383,606943,601067,276900,276901,605472,276904,602083

Drugs & Therapeutics for Usher Syndrome

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Usher Syndrome

Drug clinical trials:

Search ClinicalTrials for Usher Syndrome

Search NIH Clinical Center for Usher Syndrome

Search CenterWatch for Usher Syndrome

Genetic Tests for Usher Syndrome

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21GeneTests, 23GTR
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Genetic tests related to Usher Syndrome:

id Genetic test Affiliating Genes
1 Usher Syndrome Multi-Gene Panels21
2 Retinitis Pigmentosa-Deafness Syndrome23

Anatomical Context for Usher Syndrome

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34MalaCards
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MalaCards organs/tissues related to Usher Syndrome:

34
Retina, Eye, Bone

Animal Models for Usher Syndrome or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Usher Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053867.3GPR98, USH1C, CLRN1, MYO7A, PCDH15, USH1G
2MP:00053776.9GPR98, USH1C, USH1G, USH2A, CLRN1, MYO7A
3MP:00053916.8PCDH15, GPR98, USH1C, USH1G, USH2A, CLRN1
4MP:00036316.6MYO7A, CLRN1, USH2A, USH1G, USH1C, PCDH15

Publications for Usher Syndrome

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53PubMed
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Articles related to Usher Syndrome:

(show top 50)    (show all 353)
idTitleAuthorsYear
1
Deletion of PDZD7 disrupts the Usher syndrome type 2 protein complex in cochlear hair cells and causes hearing loss in mice. (24334608)
2014
2
The giant spectrin I^V couples the molecular motors to phototransduction and Usher syndrome type I proteins along their trafficking route. (23704327)
2013
3
Nongranulomatous anterior uveitis in a patient with Usher syndrome. (24371428)
2013
4
An Usher syndrome type 1 patient diagnosed before the appearance of visual symptoms by MYO7A mutation analysis. (23237960)
2013
5
Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapy. (22009552)
2012
6
Evidence of genetic heterogeneity in Alberta Hutterites with Usher syndrome type I. (22690115)
2012
7
Usher syndrome. (22314473)
2012
8
Mutational frequencies in usherin(USH2A gene) in 26 Colombian individuals with Usher syndrome type II]. (22159486)
2011
9
Novel USH2A mutations in Japanese Usher syndrome type 2 patients: marked differences in the mutation spectrum between the Japanese and other populations. (21593743)
2011
10
Myosin VIIa and sans localization at stereocilia upper tip-link density implicates these Usher syndrome proteins in mechanotransduction. (21709241)
2011
11
Seven novel mutations in the long isoform of the USH2A gene in Chinese families with nonsyndromic retinitis pigmentosa and Usher syndrome Type II. (21686329)
2011
12
A novel 5-bp deletion in Clarin 1 in a family with Usher syndrome. (21675857)
2011
13
Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis. (21569298)
2011
14
Identification of large rearrangements of the PCDH15 gene by combined MLPA and a CGH: large duplications are responsible for Usher syndrome. (20538994)
2010
15
Microarray-based mutation analysis of 183 Spanish families with Usher syndrome. (19683999)
2010
16
Usher syndrome type 1: early detection of electroretinographic changes. (19006676)
2009
17
Update on Usher syndrome. (19165952)
2009
18
Usher syndrome and psychiatric symptoms: a challenge in psychiatric management. (19270624)
2009
19
Usher syndrome IIIA gene clarin-1 is essential for hair cell function and associated neural activation. (19414487)
2009
20
"Minimized rotational vestibular testing" as a screening procedure detecting vestibular areflexy in deaf children: screening cochlear implant candidates for Usher syndrome type I. (18058117)
2008
21
UMD-USHbases: a comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genes. (18484607)
2008
22
Lentiviral gene replacement therapy of retinas in a mouse model for Usher syndrome type 1B. (17268537)
2007
23
MYO7A mutation screening in Usher syndrome type I patients from diverse origins. (17361009)
2007
24
Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease. (16545802)
2006
25
Molecular genetic study of Usher syndrome in Spain]. (16240916)
2005
26
Characterization of vestibular dysfunction in the mouse model for Usher syndrome 1F. (15952048)
2005
27
Clinical and genetic linkage analysis of a large Venezuelan kindred with Usher syndrome. (15236894)
2004
28
Genetic heterogeneity in Usher syndrome. (15368488)
2004
29
Mutational spectrum in Usher syndrome type II. (15025721)
2004
30
Kinetics of visual field loss in Usher syndrome Type II. (14985291)
2004
31
Usher syndrome: correlation between visual field size and maximal ERG response b-wave amplitude. (15180256)
2003
32
Usher syndrome and cochlear implantation. (12621335)
2003
33
Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC. (12107438)
2002
34
Usher syndrome type III: revised genomic structure of the USH3 gene and identification of novel mutations. (12145752)
2002
35
Genetic heterogeneity of Usher syndrome: analysis of 151 families with Usher type I. (11060213)
2000
36
Early diagnosis of Usher syndrome in children. (11190026)
2000
37
Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I. (10930322)
2000
38
The usher syndromes. (10704190)
1999
39
A gene for recessive nonsyndromic sensorineural deafness (DFNB18) maps to the chromosomal region 11p14-p15.1 containing the Usher syndrome type 1C gene. (9653658)
1998
40
Epidemiology of Usher syndrome in Valencia and Spain. (15178965)
1998
41
Mutations in the myosin VIIA gene cause a wide phenotypic spectrum, including atypical Usher syndrome. (9718356)
1998
42
The prevalence of Usher syndrome and other retinal dystrophy-hearing impairment associations. (9212179)
1997
43
Molecular cloning and domain structure of human myosin-VIIa, the gene product defective in usher syndrome 1B. (8884267)
1996
44
Defective myosin VIIA gene responsible for Usher syndrome type 1B. (7870171)
1995
45
Usher syndrome type I associated with bronchiectasis and immotile nasal cilia in two brothers. (8474110)
1993
46
Linkage studies of Usher syndrome type 1: exclusion results from the Usher syndrome consortium. (1427898)
1992
47
A gene for Usher syndrome type I (USH1A) maps to chromosome 14q. (1478676)
1992
48
Usher syndrome type I is not linked to D1S81 (pTHH 33): evidence for genetic heterogeneity. (1978628)
1990
49
Usher syndrome: definition and estimate of prevalence from two high-risk populations. (6885960)
1983
50
A case for diagnosis (lupus erythematosus with superimposed Senear-Usher syndrome). (20277314)
1946

Variations for Usher Syndrome

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Usher Syndrome:

1 (show all 123)
id Gene Name Type Significance SNP ID Assembly Location
1MYO7ANM_000260.3(MYO7A): c.448C> T (p.Arg150Ter)single nucleotide variantPathogenicrs121965079GRCh37Chr 11, 76867115: 76867115
2MYO7ANM_000260.3(MYO7A): c.700C> T (p.Gln234Ter)single nucleotide variantPathogenicrs41298133GRCh37Chr 11, 76868015: 76868015
3MYO7ANM_000260.3(MYO7A): c.635G> A (p.Arg212His)single nucleotide variantPathogenicrs28934610GRCh37Chr 11, 76867950: 76867950
4USH2ANM_206933.2(USH2A): c.2276G> T (p.Cys759Phe)single nucleotide variantPathogenicrs80338902GRCh37Chr 1, 216420460: 216420460
5USH2ANM_206933.2(USH2A): c.11864G> A (p.Trp3955Ter)single nucleotide variantPathogenicrs111033364GRCh37Chr 1, 215901574: 215901574
6USH2ANM_206933.2(USH2A): c.1256G> T (p.Cys419Phe)single nucleotide variantPathogenicrs121912600GRCh37Chr 1, 216497582: 216497582
7USH2ANM_206933.2(USH2A): c.2209C> T (p.Arg737Ter)single nucleotide variantPathogenicrs111033334GRCh37Chr 1, 216420527: 216420527
8USH2ANM_206933.2(USH2A): c.2299delG (p.Glu767Serfs)deletionPathogenicrs80338903GRCh37Chr 1, 216420437: 216420437
9MYO7ANM_000260.3(MYO7A): c.1200+1G> Asingle nucleotide variantPathogenicrs397516283GRCh37Chr 11, 76871329: 76871329
10MYO7ANM_000260.3(MYO7A): c.141G> A (p.Trp47Ter)single nucleotide variantPathogenicrs397516285GRCh37Chr 11, 76858852: 76858852
11MYO7ANM_000260.3(MYO7A): c.1556G> A (p.Gly519Asp)single nucleotide variantPathogenicrs111033206GRCh37Chr 11, 76873900: 76873900
12MYO7ANM_000260.3(MYO7A): c.1556delG (p.Gly519Alafs)deletionPathogenicrs111033206GRCh37Chr 11, 76873900: 76873900
13MYO7ANM_000260.3(MYO7A): c.1900C> T (p.Arg634Ter)single nucleotide variantPathogenicrs111033180GRCh37Chr 11, 76883896: 76883896
14MYO7ANM_000260.3(MYO7A): c.1963C> T (p.Gln655Ter)single nucleotide variantPathogenicrs397516291GRCh37Chr 11, 76885829: 76885829
15MYO7ANM_000260.3(MYO7A): c.2005C> T (p.Arg669Ter)single nucleotide variantPathogenicrs111033201GRCh37Chr 11, 76885871: 76885871
16MYO7ANM_000260.3(MYO7A): c.2094+1G> Asingle nucleotide variantPathogenicrs111033404GRCh37Chr 11, 76885961: 76885961
17MYO7ANM_000260.3(MYO7A): c.2172delC (p.Lys725Argfs)deletionPathogenicrs397516294GRCh37Chr 11, 76886495: 76886495
18MYO7ANM_000260.3(MYO7A): c.2283-1G> Tsingle nucleotide variantPathogenicrs397516295GRCh37Chr 11, 76890090: 76890090
19MYO7ANM_000260.3(MYO7A): c.2904G> T (p.Glu968Asp)single nucleotide variantPathogenicrs111033233GRCh37Chr 11, 76892635: 76892635
20MYO7ANM_000260.3(MYO7A): c.3327delC (p.His1109Glnfs)deletionPathogenicrs111033433GRCh37Chr 11, 76894154: 76894154
21MYO7ANM_000260.3(MYO7A): c.3508G> A (p.Glu1170Lys)single nucleotide variantPathogenicrs111033214GRCh37Chr 11, 76900393: 76900393
22MYO7ANM_000260.3(MYO7A): c.3696_3706delAAGGACCTTTG (p.Arg1232Serfs)deletionPathogenicrs397516303GRCh37Chr 11, 76901130: 76901140
23MYO7ANM_000260.3(MYO7A): c.3719G> A (p.Arg1240Gln)single nucleotide variantPathogenicrs111033178GRCh37Chr 11, 76901153: 76901153
24MYO7ANM_000260.3(MYO7A): c.3728dupC (p.Pro1244Alafs)duplicationPathogenicrs397516304GRCh37Chr 11, 76901162: 76901163
25MYO7ANM_000260.3(MYO7A): c.3764delA (p.Lys1255Argfs)deletionPathogenicrs111033347GRCh37Chr 11, 76901755: 76901755
26MYO7ANM_000260.3(MYO7A): c.4293G> A (p.Trp1431Ter)single nucleotide variantPathogenicrs397516308GRCh37Chr 11, 76905539: 76905539
27MYO7ANM_000260.3(MYO7A): c.4544_4551delAGATCATGinsCA (p.Glu1515_Met1517delinsAla)indelPathogenicrs111033259GRCh37Chr 11, 76909642: 76909649
28MYO7ANM_000260.3(MYO7A): c.4821T> A (p.Tyr1607Ter)single nucleotide variantPathogenicrs397516315GRCh37Chr 11, 76910832: 76910832
29MYO7ANM_000260.3(MYO7A): c.494C> T (p.Thr165Met)single nucleotide variantPathogenicrs111033174GRCh37Chr 11, 76867729: 76867729
30MYO7ANM_000260.3(MYO7A): c.496delG (p.Glu166Argfs)deletionPathogenicrs111033448GRCh37Chr 11, 76867731: 76867731
31MYO7ANM_000260.3(MYO7A): c.5101C> T (p.Arg1701Ter)single nucleotide variantPathogenicrs111033182GRCh37Chr 11, 76913402: 76913402
32MYO7ANM_000260.3(MYO7A): c.5392C> T (p.Gln1798Ter)single nucleotide variantPathogenicrs397516317GRCh37Chr 11, 76915186: 76915186
33MYO7ANM_000260.3(MYO7A): c.5573T> C (p.Leu1858Pro)single nucleotide variantPathogenicrs368657015GRCh37Chr 11, 76916599: 76916599
34MYO7ANM_000260.3(MYO7A): c.5581dupC (p.Arg1861Profs)duplicationPathogenicrs397516320GRCh37Chr 11, 76916607: 76916608
35MYO7ANM_000260.3(MYO7A): c.5617C> T (p.Arg1873Trp)single nucleotide variantPathogenicrs397516321GRCh37Chr 11, 76916643: 76916643
36MYO7ANM_000260.3(MYO7A): c.5824G> T (p.Gly1942Ter)single nucleotide variantPathogenicrs111033192GRCh37Chr 11, 76918415: 76918415
37MYO7ANM_000260.3(MYO7A): c.582delC (p.Ile195Phefs)deletionPathogenicrs111033238GRCh37Chr 11, 76867817: 76867817
38MYO7ANM_000260.3(MYO7A): c.5886_5888delCTT (p.Phe1963del)deletionPathogenicrs111033232GRCh37Chr 11, 76919504: 76919506
39MYO7ANM_000260.3(MYO7A): c.6025delG (p.Ala2009Profs)deletionPathogenicrs397516326GRCh37Chr 11, 76919822: 76919822
40MYO7ANM_000260.3(MYO7A): c.6029A> G (p.Asp2010Gly)single nucleotide variantPathogenicrs111033175GRCh37Chr 11, 76919826: 76919826
41MYO7ANM_000260.3(MYO7A): c.6070C> T (p.Arg2024Ter)single nucleotide variantPathogenicrs111033198GRCh37Chr 11, 76922215: 76922215
42MYO7ANM_000260.3(MYO7A): c.640G> A (p.Gly214Arg)single nucleotide variantPathogenicrs111033283GRCh37Chr 11, 76867955: 76867955
43MYO7ANM_000260.3(MYO7A): c.6439-2A> Gsingle nucleotide variantPathogenicrs397516330GRCh37Chr 11, 76924903: 76924903
44MYO7ANM_000260.3(MYO7A): c.6498C> A (p.Tyr2166Ter)single nucleotide variantPathogenicrs397516331GRCh37Chr 11, 76924964: 76924964
45MYO7ANM_000260.3(MYO7A): c.999T> G (p.Tyr333Ter)single nucleotide variantPathogenicrs111033285GRCh37Chr 11, 76869472: 76869472
46CLRN1NM_001195794.1(CLRN1): c.144T> G (p.Asn48Lys)single nucleotide variantPathogenicrs111033258GRCh37Chr 3, 150690352: 150690352
47CLRN1NM_001195794.1(CLRN1): c.189C> A (p.Tyr63Ter)single nucleotide variantPathogenicrs111033267GRCh37Chr 3, 150690307: 150690307
48DFNB31NM_015404.3(DFNB31): c.1267C> T (p.Arg423Ter)single nucleotide variantPathogenicrs397517255GRCh37Chr 9, 117186763: 117186763
49DFNB31NM_015404.3(DFNB31): c.643delG (p.Val215Cysfs)deletionPathogenicrs397517258GRCh37Chr 9, 117241027: 117241027
50CDH23NM_022124.5(CDH23): c.2012delT (p.Phe671Serfs)deletionPathogenicrs397517313GRCh37Chr 10, 73447429: 73447429
51NM_022124.5(CDH23): c.3481C> T (p.Arg1161Ter)single nucleotide variantPathogenicrs397517323GRCh37Chr 10, 73485179: 73485179
52NM_022124.5(CDH23): c.3628C> T (p.Gln1210Ter)single nucleotide variantPathogenicrs397517326GRCh37Chr 10, 73490274: 73490274
53NM_022124.5(CDH23): c.3706C> T (p.Arg1236Ter)single nucleotide variantPathogenicrs397517327GRCh37Chr 10, 73490352: 73490352
54CDH23NM_022124.5(CDH23): c.4309C> T (p.Arg1437Ter)single nucleotide variantPathogenicrs397517329GRCh37Chr 10, 73498354: 73498354
55CDH23NM_022124.5(CDH23): c.46delG (p.Val16Cysfs)deletionPathogenicrs397517331GRCh37Chr 10, 73199634: 73199634
56CDH23NM_022124.5(CDH23): c.5272C> T (p.Gln1758Ter)single nucleotide variantPathogenicrs397517337GRCh37Chr 10, 73539108: 73539108
57CDH23NM_022124.5(CDH23): c.5712+1G> Asingle nucleotide variantPathogenicrs397517341GRCh37Chr 10, 73544858: 73544858
58CDH23NM_022124.5(CDH23): c.5712G> A (p.Thr1904=)single nucleotide variantPathogenicrs397517342GRCh37Chr 10, 73544857: 73544857
59CDH23NM_022124.5(CDH23): c.5923+1G> Asingle nucleotide variantPathogenicrs397517346GRCh37Chr 10, 73548800: 73548800
60CDH23NM_022124.5(CDH23): c.6049+1G> Asingle nucleotide variantPathogenicrs111033247GRCh37Chr 10, 73550171: 73550171
61CDH23NM_022124.5(CDH23): c.6050-9G> Asingle nucleotide variantPathogenicrs367928692GRCh37Chr 10, 73550880: 73550880
62CDH23NM_022124.5(CDH23): c.6968delC (p.Pro2323Leufs)deletionPathogenicrs397517350GRCh37Chr 10, 73558249: 73558249
63CDH23NM_022124.5(CDH23): c.7776G> A (p.Trp2592Ter)single nucleotide variantPathogenicrs397517353GRCh37Chr 10, 73563081: 73563081
64CDH23NM_022124.5(CDH23): c.8781C> A (p.Tyr2927Ter)single nucleotide variantPathogenicrs397517362GRCh37Chr 10, 73569635: 73569635
65CDH23NM_022124.5(CDH23): c.9629_9632delTCAA (p.Ile3210Argfs)deletionPathogenicrs397517367GRCh37Chr 10, 73572643: 73572646
66GPR98NM_032119.3(GPR98): c.11253C> G (p.Tyr3751Ter)single nucleotide variantPathogenicrs376689763GRCh37Chr 5, 90049522: 90049522
67GPR98NM_032119.3(GPR98): c.14973-2A> Gsingle nucleotide variantPathogenicrs371981035GRCh37Chr 5, 90106048: 90106048
68GPR98NM_032119.3(GPR98): c.17662delT (p.Ser5888Hisfs)deletionPathogenicrs397517426GRCh37Chr 5, 90151625: 90151625
69GPR98NM_032119.3(GPR98): c.2398C> T (p.Arg800Ter)single nucleotide variantPathogenicrs373780305GRCh37Chr 5, 89938703: 89938703
70GPR98NM_032119.3(GPR98): c.2870dupA (p.Asn957Lysfs)duplicationPathogenicrs397517429GRCh37Chr 5, 89940658: 89940659
71GPR98NM_032119.3(GPR98): c.7374_7375delTG (p.Glu2459Glyfs)deletionPathogenicrs397517435GRCh37Chr 5, 89989947: 89989948
72GPR98NM_032119.3(GPR98): c.7406G> A (p.Trp2469Ter)single nucleotide variantPathogenicrs397517436GRCh37Chr 5, 89989979: 89989979
73GPR98NM_032119.3(GPR98): c.8737delG (p.Val2913Tyrfs)deletionPathogenicrs397517441GRCh37Chr 5, 90004639: 90004639
74PCDH15NM_033056.3(PCDH15): c.16delT (p.Tyr6Ilefs)deletionPathogenicrs397517451GRCh37Chr 10, 56424007: 56424007
75PCDH15NM_033056.3(PCDH15): c.1998-2A> Gsingle nucleotide variantPathogenicrs397517452GRCh37Chr 10, 55839186: 55839186
76PCDH15NM_033056.3(PCDH15): c.3316C> T (p.Arg1106Ter)single nucleotide variantPathogenicrs202033121GRCh37Chr 10, 55698632: 55698632
77CLRN1NM_001195794.1(CLRN1): c.301_305delGTCAT (p.Val101Serfs)deletionPathogenicrs397517932GRCh37Chr 3, 150659497: 150659501
78CLRN1NM_001195794.1(CLRN1): c.368C> A (p.Ala123Asp)single nucleotide variantPathogenicrs374963432GRCh37Chr 3, 150659434: 150659434
79USH2ANM_206933.2(USH2A): c.10190_10191delAA (p.Lys3397Argfs)deletionPathogenicrs397517964GRCh37Chr 1, 215960208: 215960209
80USH2ANM_206933.2(USH2A): c.10561T> C (p.Trp3521Arg)single nucleotide variantPathogenicrs111033264GRCh37Chr 1, 215956104: 215956104
81USH2ANM_206933.2(USH2A): c.11048-1G> Asingle nucleotide variantPathogenicrs111033414GRCh37Chr 1, 215933186: 215933186
82USH2ANM_206933.2(USH2A): c.11411delC (p.Pro3804Leufs)deletionPathogenicrs397517973GRCh37Chr 1, 215916656: 215916656
83USH2ANM_206933.2(USH2A): c.1143+1G> Asingle nucleotide variantPathogenicrs397517974GRCh37Chr 1, 216498646: 216498646
84USH2ANM_206933.2(USH2A): c.11954G> A (p.Trp3985Ter)single nucleotide variantPathogenicrs397517976GRCh37Chr 1, 215901484: 215901484
85USH2ANM_206933.2(USH2A): c.12067-1G> Csingle nucleotide variantPathogenicrs397517977GRCh37Chr 1, 215853719: 215853719
86USH2ANM_206933.2(USH2A): c.12067-2A> Gsingle nucleotide variantPathogenicrs397517978GRCh37Chr 1, 215853720: 215853720
87USH2ANM_206933.2(USH2A): c.12295-2A> Gsingle nucleotide variantPathogenicrs151148854GRCh37Chr 1, 215848960: 215848960
88USH2ANM_206933.2(USH2A): c.12714T> G (p.Tyr4238Ter)single nucleotide variantPathogenicrs397517981GRCh37Chr 1, 215848539: 215848539
89USH2ANM_206933.2(USH2A): c.12868C> T (p.Gln4290Ter)single nucleotide variantPathogenicrs397517983GRCh37Chr 1, 215848385: 215848385
90USH2ANM_206933.2(USH2A): c.14031dupA (p.Ala4678Serfs)duplicationPathogenicrs397517988GRCh37Chr 1, 215844415: 215844416
91USH2ANM_206933.2(USH2A): c.14180G> A (p.Trp4727Ter)single nucleotide variantPathogenicrs397517989GRCh37Chr 1, 215824097: 215824097
92USH2ANM_206933.2(USH2A): c.14911C> T (p.Arg4971Ter)single nucleotide variantPathogenicrs397517994GRCh37Chr 1, 215813957: 215813957
93USH2ANM_206933.2(USH2A): c.1606T> C (p.Cys536Arg)single nucleotide variantPathogenicrs111033273GRCh37Chr 1, 216495263: 216495263
94USH2ANM_206933.2(USH2A): c.1841-2A> Gsingle nucleotide variantPathogenicrs397518003GRCh37Chr 1, 216462754: 216462754
95USH2ANM_206933.2(USH2A): c.2898delG (p.Thr967Leufs)deletionPathogenicrs397518008GRCh37Chr 1, 216405390: 216405390
96USH2ANM_206933.2(USH2A): c.3309C> A (p.Tyr1103Ter)single nucleotide variantPathogenicrs397518011GRCh37Chr 1, 216380622: 216380622
97USH2ANM_206933.2(USH2A): c.3435delA (p.Val1147Serfs)deletionPathogenicrs397518012GRCh37Chr 1, 216373345: 216373345
98USH2ANM_206933.2(USH2A): c.3547_3548delAT (p.Ile1183Phefs)deletionPathogenicrs397518013GRCh37Chr 1, 216373232: 216373233
99USH2ANM_206933.2(USH2A): c.3558delT (p.Cys1186Trpfs)deletionPathogenicrs397518014GRCh37Chr 1, 216373222: 216373222
100USH2ANM_206933.2(USH2A): c.4133_4134dupTC (p.Asn1379Serfs)duplicationPathogenicrs397518015GRCh37Chr 1, 216370012: 216370013
101USH2ANM_206933.2(USH2A): c.4338_4339delCT (p.Cys1447Glnfs)deletionPathogenicrs111033367GRCh37Chr 1, 216363622: 216363623
102USH2ANM_206933.2(USH2A): c.5001dupA (p.Gly1668Argfs)duplicationPathogenicrs397518018GRCh37Chr 1, 216258205: 216258206
103USH2ANM_206933.2(USH2A): c.5788C> T (p.Arg1930Ter)single nucleotide variantPathogenicrs397518021GRCh37Chr 1, 216246300: 216246300
104USH2ANM_206933.2(USH2A): c.5857+2T> Csingle nucleotide variantPathogenicrs397518022GRCh37Chr 1, 216246229: 216246229
105USH2ANM_206933.2(USH2A): c.5858-1G> Asingle nucleotide variantPathogenicrs397518023GRCh37Chr 1, 216243635: 216243635
106USH2ANM_206933.2(USH2A): c.6224G> A (p.Trp2075Ter)single nucleotide variantPathogenicrs111033386GRCh37Chr 1, 216219874: 216219874
107USH2ANM_206933.2(USH2A): c.7244C> G (p.Ser2415Ter)single nucleotide variantPathogenicrs397518029GRCh37Chr 1, 216108014: 216108014
108USH2ANM_206933.2(USH2A): c.820C> T (p.Arg274Ter)single nucleotide variantPathogenicrs397518036GRCh37Chr 1, 216500961: 216500961
109USH2ANM_206933.2(USH2A): c.8559-2A> Gsingle nucleotide variantPathogenicrs397518039GRCh37Chr 1, 216051224: 216051224
110USH2ANM_206933.2(USH2A): c.8981G> A (p.Trp2994Ter)single nucleotide variantPathogenicrs397518041GRCh37Chr 1, 216019240: 216019240
111USH2ANM_206933.2(USH2A): c.9159T> G (p.Tyr3053Ter)single nucleotide variantPathogenicrs397518042GRCh37Chr 1, 216017735: 216017735
112USH2ANM_206933.2(USH2A): c.920_923dupGCCA (p.His308Glnfs)duplicationPathogenicrs397518043GRCh37Chr 1, 216498867: 216498870
113USH2ANM_206933.2(USH2A): c.9304C> T (p.Gln3102Ter)single nucleotide variantPathogenicrs397518046GRCh37Chr 1, 216011400: 216011400
114USH2ANM_206933.2(USH2A): c.9371+1G> Csingle nucleotide variantPathogenicrs41308425GRCh37Chr 1, 216011332: 216011332
115USH2ANM_206933.2(USH2A): c.9424G> T (p.Gly3142Ter)single nucleotide variantPathogenicrs397518048GRCh37Chr 1, 215990485: 215990485
116USH2ANM_206933.2(USH2A): c.9459C> A (p.Cys3153Ter)single nucleotide variantPathogenicrs73090721GRCh37Chr 1, 215990450: 215990450
117USH2ANM_206933.2(USH2A): c.949C> A (p.Arg317=)single nucleotide variantPathogenicrs111033272GRCh37Chr 1, 216498841: 216498841
118CDH23NM_022124.5(CDH23): c.5237G> A (p.Arg1746Gln)single nucleotide variantPathogenicrs111033270GRCh37Chr 10, 73539073: 73539073
119CDH23NM_022124.5(CDH23): c.6442G> A (p.Asp2148Asn)single nucleotide variantPathogenicrs111033271GRCh37Chr 10, 73553127: 73553127
120PCDH15NM_033056.3(PCDH15): c.733C> T (p.Arg245Ter)single nucleotide variantPathogenicrs111033260GRCh37Chr 10, 56077174: 56077174
121USH1CNM_005709.3(USH1C): c.238dupC (p.Arg80Profs)duplicationPathogenicrs397515359GRCh37Chr 11, 17552956: 17552956
122USH1CNM_005709.3(USH1C): c.216G> A (p.Val72=)single nucleotide variantPathogenicrs151045328GRCh37Chr 11, 17552978: 17552978
123MT-TS2m.12258C> Asingle nucleotide variantPathogenicrs118203888GRCh37Chr MT, 12258: 12258

Expression for genes affiliated with Usher Syndrome

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Usher Syndrome

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Pathways for genes affiliated with Usher Syndrome

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Compounds for genes affiliated with Usher Syndrome

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GO Terms for genes affiliated with Usher Syndrome

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Sources:
17Gene Ontology
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Cellular components related to Usher Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1stereocilia ankle link complexGO:0021429.7USH2A, GPR98
2photoreceptor inner segmentGO:0019179.2MYO7A, USH1C
3stereociliumGO:0324208.8PCDH15, MYO7A, USH1C
4photoreceptor outer segmentGO:0017508.7PCDH15, MYO7A, USH1C
5synapseGO:0452028.6USH1C, MYO7A, PCDH15
6plasma membraneGO:0058867.9PCDH15, CLRN1, USH1G, USH1C, GPR98

Biological processes related to Usher Syndrome according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1maintenance of organ identityGO:0484969.7GPR98, USH2A
2inner ear morphogenesisGO:0424729.6USH1C, USH1G
3inner ear receptor cell differentiationGO:0601139.5USH1G, USH2A
4response to stimulusGO:0508969.4USH2A, CLRN1
5visual perceptionGO:0076018.7MYO7A, CLRN1, USH2A, GPR98
6equilibrioceptionGO:0509577.8PCDH15, MYO7A, USH1C, USH1G, CLRN1
7photoreceptor cell maintenanceGO:0454947.7GPR98, CLRN1, USH2A, USH1G, USH1C, PCDH15
8sensory perception of light stimulusGO:0509537.1GPR98, USH1C, USH1G, USH2A, CLRN1, PCDH15
9sensory perception of soundGO:0076057.0PCDH15, MYO7A, CLRN1, USH2A, USH1G, USH1C

Molecular functions related to Usher Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1myosin bindingGO:0170229.4USH2A, GPR98
2protein bindingGO:0055157.7PDZD7, MYO7A, USH2A, USH1G, USH1C, GPR98

Products for genes affiliated with Usher Syndrome

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  • Antibodies
  • Proteins
  • Lysates
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Sources for Usher Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet