USH
MCID: USH001
MIFTS: 59

Usher Syndrome (USH)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Usher Syndrome

MalaCards integrated aliases for Usher Syndrome:

Name: Usher Syndrome 12 74 52 25 58 36 29 54 6 42 15 37 39 71
Retinitis Pigmentosa-Deafness Syndrome 25 58
Deafness-Retinitis Pigmentosa Syndrome 52 25
Graefe-Usher Syndrome 52 25
Hallgren Syndrome 52 25
Usher's Syndrome 52 25
Dystrophia Retinae Pigmentosa-Dysostosis Syndrome 52
Usher Syndromes 43
Ush 58

Characteristics:

Orphanet epidemiological data:

58
usher syndrome
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe),1-9/100000 (Worldwide),1-9/100000 (Denmark),1-9/100000 (Germany),1-9/100000 (United Kingdom),1-9/100000 (Norway),1-9/100000 (Spain),1-9/100000 (Finland),1-9/100000 (United States),1-9/100000 (Colombia); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Rare eye diseases
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0050439
KEGG 36 H00779
MeSH 43 D052245
SNOMED-CT 67 57838006 73119000
MESH via Orphanet 44 D052245
ICD10 via Orphanet 33 H35.5
UMLS via Orphanet 72 C0271097
Orphanet 58 ORPHA886
UMLS 71 C0271097 C1568248 C1568249 more

Summaries for Usher Syndrome

Genetics Home Reference : 25 Usher syndrome is a condition characterized by partial or total hearing loss and vision loss that worsens over time. The hearing loss is classified as sensorineural, which means that it is caused by abnormalities of the inner ear. 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, vision is further impaired by clouding of the lens of the eye (cataracts). However, many people with retinitis pigmentosa retain some central vision throughout their lives. Researchers have identified three major types of Usher syndrome, designated as types I, II, and III. These types are distinguished by the severity of hearing loss, the presence or absence of balance problems, and the age at which signs and symptoms appear. The types are further divided into subtypes based on their genetic cause. Most individuals with Usher syndrome type I are born with severe to profound hearing loss. Progressive vision loss caused by retinitis pigmentosa becomes apparent in childhood. This type of Usher syndrome also causes abnormalities of the vestibular system, which is the part of the inner ear that helps maintain the body's balance and orientation in space. As a result of the vestibular abnormalities, children with the condition have trouble with balance. They begin sitting independently and walking later than usual, and they may have difficulty riding a bicycle and playing certain sports. Usher syndrome type II is characterized by hearing loss from birth and progressive vision loss that begins in adolescence or adulthood. The hearing loss associated with this form of Usher syndrome ranges from mild to severe and mainly affects the ability to hear high-frequency sounds. For example, it is difficult for affected individuals to hear high, soft speech sounds, such as those of the letters d and t. The degree of hearing loss varies within and among families with this condition, and it may become more severe over time. Unlike the other forms of Usher syndrome, type II is not associated with vestibular abnormalities that cause difficulties with balance. People with Usher syndrome type III experience hearing loss and vision loss beginning somewhat later in life. Unlike the other forms of Usher syndrome, type III is usually associated with normal hearing at birth. Hearing loss typically begins during late childhood or adolescence, after the development of speech, and becomes more severe over time. By middle age, most affected individuals have profound hearing loss. Vision loss caused by retinitis pigmentosa also develops in late childhood or adolescence. Some people with Usher syndrome type III develop vestibular abnormalities that cause problems with balance.

MalaCards based summary : Usher Syndrome, also known as retinitis pigmentosa-deafness syndrome, is related to usher syndrome, type iia and usher syndrome, type ic, and has symptoms including tinnitus, snoring and sore throat. An important gene associated with Usher Syndrome is USH2A (Usherin). The drug Omega 3 Fatty Acid has been mentioned in the context of this disorder. Affiliated tissues include retina, eye and testes, and related phenotypes are nyctalopia and abnormal electroretinogram

Disease Ontology : 12 A syndrome characterized by a combination of hearing loss and visual impairment.

NIH Rare Diseases : 52 Usher syndrome is a genetic disorder characterized by sensorineural hearing loss or deafness and progressive vision loss due to retinitis pigmentosa . Sensorineural hearing means it is caused by abnormalities of the inner ear . Retinitis pigmentosa is an eye disease that 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, that can enlarge and merge to produce tunnel vision (loss of all peripheral vision). In some cases, vision is further impaired by clouding of the lens of the eye ( cataracts ). 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 . Treatment for the hearing loss may include hearing aids or surgery for a cochlear implant . Vitamin A palmitate is useful for treating the vision loss in people with Usher syndrome type II.

MedlinePlus : 42 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

KEGG : 36 Usher syndrome (USH) is a group of autosomal recessively inherited disorders characterized by deafness and vision loss. Three clinical types USH1, USH2, and USH3, are distinguished on the basis of severity of hearing loss and the presence or absence of vestibular dysfunction. USH1 patients are congenitally profoundly deaf, and have vestibular dysfunction as well as prepubertal onset of progressive retinitis pigmentosa (RP). USH2 is characterized by congenital mild hearing impairment with normal vestibular responses. USH3 is characterized by a progressive hearing loss, a variable vestibular dysfunction, and RP. USH shows significant genetic heterogeneity, and at least 11 distinct loci have been identified and genes for 9 of them have been cloned.

Wikipedia : 74 Usher syndrome, also known as Hallgren syndrome, Usher-Hallgren syndrome, retinitis pigmentosa-dysacusis... more...

Related Diseases for Usher Syndrome

Diseases in the Usher Syndrome family:

Usher Syndrome, Type I Usher Syndrome, Type Iia
Usher Syndrome, Type Iiia Usher Syndrome, Type Ic
Usher Syndrome, Type Id Usher Syndrome, Type if
Usher Syndrome, Type Iic Usher Syndrome, Type Ig
Usher Syndrome, Type Iid Usher Syndrome, Type Ih
Usher Syndrome, Type Iiib Usher Syndrome, Type Ij
Usher Syndrome, Type Ik Usher Syndrome, Type Iv
Usher Syndrome, Type 1m Usher Syndrome Type 2
Usher Syndrome, Type 2b

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

(show top 50) (show all 204)
# Related Disease Score Top Affiliating Genes
1 usher syndrome, type iia 35.4 WHRN USH2A USH1C PDZD7 CDH23 ADGRV1
2 usher syndrome, type ic 35.4 WHRN USHBP1 USH1G USH1C PCDH15 MYO7A
3 usher syndrome, type i 35.3 WHRN USHBP1 USH2A USH1G USH1C PDZD7
4 usher syndrome, type id 35.3 WHRN USH2A USH1G USH1C PDZD7 PCDH15
5 usher syndrome, type iic 35.3 WHRN USH2A USH1G USH1C PDZD7 PCDH15
6 usher syndrome, type ig 35.3 USH1G USH1C PCDH15 CDH23
7 usher syndrome, type iiib 35.3 WHRN USH1G MYO7A HARS1 CLRN1
8 usher syndrome, type if 35.3 WHRN USH2A USH1G USH1C PDZD7 PCDH15
9 usher syndrome, type iiia 35.2 WHRN USH2A USH1G USH1C PDZD7 PCDH15
10 usher syndrome, type ij 35.2 WHRN USH2A USH1G USH1C PDZD7 PCDH15
11 usher syndrome, type iid 35.2 WHRN USH2A USH1G USH1C PDZD7 PCDH15
12 usher syndrome, type ih 35.2 WHRN USH1G USH1C PCDH15 MYO7A CLRN1
13 usher syndrome, type ik 35.2 PCDH15 CLRN1 CIB2 CDH23
14 usher syndrome type 2 34.9 WHRN USH2A USH1G USH1C PDZD7 PCDH15
15 retinitis pigmentosa-deafness syndrome 34.4 WHRN USH2A PCDH15 MYO7A CDH23
16 retinitis pigmentosa 33.5 WHRN USH2A USH1G USH1C PROM1 PDZD7
17 branchiootic syndrome 1 32.5 WHRN USH2A USH1G MYO7A CDH23
18 sensorineural hearing loss 32.1 WHRN USH2A USH1G USH1C PDZD7 PCDH15
19 yemenite deaf-blind hypopigmentation syndrome 32.0 USH2A MYO7A
20 retinal degeneration 32.0 USH2A USH1C PROM1 MYO7A CEP78 CDH23
21 retinal disease 31.8 USH2A USH1G USH1C PDZD7 PCDH15 MYO7A
22 nonsyndromic deafness 31.7 WHRN USH2A USH1G USH1C PDZD7 PCDH15
23 deafness, autosomal recessive 31 31.7 WHRN USH1G PDZD7 CLRN1 CIB2
24 deafness, autosomal recessive 12 31.5 WHRN USH2A USH1G USH1C PCDH15 MYO7A
25 inherited retinal disorder 31.5 USH2A PROM1 MYO7A CDH23 BBS1 ABHD12
26 autosomal recessive non-syndromic sensorineural deafness type dfnb 31.5 WHRN USH1C PCDH15 MYO7A CIB2 CDH23
27 nonsyndromic retinitis pigmentosa 31.4 USH2A CLRN1 BBS1
28 fundus dystrophy 31.3 WHRN USH2A USH1G USH1C PROM1 PDZD7
29 deafness, autosomal recessive 23 31.3 WHRN USH1G USH1C PCDH15 MYO7A CDH23
30 deafness, autosomal recessive 48 31.2 WHRN MYO7A CIB2
31 deafness, autosomal recessive 2 31.1 WHRN USH1G USH1C PDZD7 PCDH15 MYO7A
32 bardet-biedl syndrome 31.0 WHRN USH2A USH1C PCDH15 MYO7A CDH23
33 pathologic nystagmus 31.0 USH2A CLRN1 BBS1
34 deafness, autosomal recessive 30.9 WHRN USH1C PDZD7 PCDH15 CIB2
35 leber congenital amaurosis 30.8 WHRN USH2A PROM1 MYO7A CLRN1 BBS1
36 deafness, autosomal dominant 20 30.7 USH1G CDH23
37 usher syndrome, type iv 12.7
38 osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome 12.5
39 usher syndrome, type 1m 12.4
40 usher syndrome, type 2b 12.3
41 alstrom syndrome 11.8
42 pemphigus erythematosus 11.6
43 peroxisomal acyl-coa oxidase deficiency 11.2
44 mohr-tranebjaerg syndrome 11.2
45 neonatal adrenoleukodystrophy 11.2
46 neuroretinitis 11.0
47 retinitis 11.0
48 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.8
49 deafness, autosomal dominant 11 10.8 WHRN USH1G USH1C PDZD7 PCDH15 MYO7A
50 auditory system disease 10.8 WHRN USH2A USH1G USH1C PCDH15 MYO7A

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



Diseases related to Usher Syndrome

Symptoms & Phenotypes for Usher Syndrome

Human phenotypes related to Usher Syndrome:

58 31 (show all 35)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nyctalopia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000662
2 abnormal electroretinogram 58 31 hallmark (90%) Very frequent (99-80%) HP:0000512
3 visual field defect 58 31 hallmark (90%) Very frequent (99-80%) HP:0001123
4 sensorineural hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000407
5 abnormality of retinal pigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007703
6 blindness 58 31 hallmark (90%) Very frequent (99-80%) HP:0000618
7 progressive visual loss 58 31 hallmark (90%) Very frequent (99-80%) HP:0000529
8 vestibular areflexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008568
9 ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0001251
10 cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000518
11 cognitive impairment 58 31 frequent (33%) Frequent (79-30%) HP:0100543
12 myopia 58 31 frequent (33%) Frequent (79-30%) HP:0000545
13 high hypermetropia 58 31 frequent (33%) Frequent (79-30%) HP:0008499
14 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
15 depressivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0000716
16 hallucinations 58 31 occasional (7.5%) Occasional (29-5%) HP:0000738
17 carious teeth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000670
18 cerebral cortical atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002120
19 myopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003198
20 hypertrophic cardiomyopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001639
21 emg abnormality 58 31 occasional (7.5%) Occasional (29-5%) HP:0003457
22 microdontia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000691
23 anxiety 58 31 occasional (7.5%) Occasional (29-5%) HP:0000739
24 aplasia/hypoplasia of the cerebellum 58 31 occasional (7.5%) Occasional (29-5%) HP:0007360
25 psychosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000709
26 decreased fertility 58 31 occasional (7.5%) Occasional (29-5%) HP:0000144
27 abnormality of dental enamel 58 31 occasional (7.5%) Occasional (29-5%) HP:0000682
28 hyperacusis 58 31 occasional (7.5%) Occasional (29-5%) HP:0010780
29 tinnitus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000360
30 astigmatism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000483
31 abnormality of dental color 58 31 occasional (7.5%) Occasional (29-5%) HP:0011073
32 abnormal cardiovascular system physiology 31 occasional (7.5%) HP:0011025
33 visual impairment 58 Very frequent (99-80%)
34 abnormality of cardiovascular system physiology 58 Occasional (29-5%)
35 vestibular dysfunction 58 Very frequent (99-80%)

UMLS symptoms related to Usher Syndrome:


tinnitus, snoring, sore throat, coughing, vertigo/dizziness, equilibration disorder

MGI Mouse Phenotypes related to Usher Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.1 ABHD12 ADGRV1 ARSG BBS1 CDH23 CIB2
2 hearing/vestibular/ear MP:0005377 10 ABHD12 ADGRV1 BBS1 CDH23 CIB2 CLRN1
3 nervous system MP:0003631 9.86 ABHD12 ADGRV1 ARSG BBS1 CDH23 CIB2
4 vision/eye MP:0005391 9.53 ABHD12 ADGRV1 ARSG BBS1 CDH23 CIB2

Drugs & Therapeutics for Usher Syndrome

Drugs for Usher Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Omega 3 Fatty Acid

Interventional clinical trials:

(show all 18)
# Name Status NCT ID Phase Drugs
1 A First-in-Human Study to Evaluate the Safety and Tolerability of QR-421a in Subjects With Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene Recruiting NCT03780257 Phase 1, Phase 2 QR-421a
2 An Open-Label Study to Determine the Long-Term Safety, Tolerability and Biological Activity of UshStat® in Patients With Usher Syndrome Type 1B Active, not recruiting NCT02065011 Phase 1, Phase 2 UshStat
3 Photoreceptor Structure in A Phase 2 Study of Encapsulated Human NTC-201 Cell Implants Releasing Ciliary Neurotrophic Factor (CNTF) for Participants With Retinitis Pigmentosa Using Rates of Change in Cone Spacing and Density Active, not recruiting NCT01530659 Phase 2 NT-501
4 A Phase I/IIa Dose Escalation Safety Study of Subretinally Injected SAR421869, Administered to Patients With Retinitis Pigmentosa Associated With Usher Syndrome Type 1B Terminated NCT01505062 Phase 1, Phase 2
5 European Research Projects on Rare Diseases Driven by Young Investigators Unknown status NCT01954953
6 A Genetic Analysis of Usher Syndrome in Ashkenazi Jews Completed NCT00016471
7 Usher Syndrome - Clinical and Molecular Studies Completed NCT00001347
8 Prospective Open Label Clinical and Genetic Testing of Patients With Usher Syndrome Completed NCT03319524
9 Natural History and Genetic Studies of Usher Syndrome Completed NCT00106743
10 Molecular Genetics of Retinal Degenerations Completed NCT00231010
11 A Multicentre Longitudinal, Observational Natural History Study to Evaluate Disease Progression in Subjects With Usher Syndrome Type 1B (USH1B) Recruiting NCT03814499
12 Evaluation of Speech and Non-speech Percept (Sound) Recognition in Cochlear Implant (CI) Patients Using an Audio Synthesize Recruiting NCT03661970
13 Phenotype Correlates Genotype of Inherited Retina Dystrophies Recruiting NCT03990727
14 Foundation Fighting Blindness Registry, My Retina Tracker Recruiting NCT02435940
15 Rate of Progression in USH2A-related Retinal Degeneration Active, not recruiting NCT03146078
16 Genetic Analyses of Nonsyndromic and Syndromic Deafness in Pakistan Active, not recruiting NCT00341874
17 Prospective Open Label Clinical and Genetic Testing of Patients With Retinitis Pigment Enrolling by invitation NCT03901391
18 Study of Dietary N-3 Fatty Acids in Patients With Retinitis Pigmentosa and Usher Syndrome Terminated NCT00004345

Search NIH Clinical Center for Usher Syndrome

Cochrane evidence based reviews: usher syndromes

Genetic Tests for Usher Syndrome

Genetic tests related to Usher Syndrome:

# Genetic test Affiliating Genes
1 Usher Syndrome 29

Anatomical Context for Usher Syndrome

MalaCards organs/tissues related to Usher Syndrome:

40
Retina, Eye, Testes, Bone, Cerebellum, T Cells, Brain

Publications for Usher Syndrome

Articles related to Usher Syndrome:

(show top 50) (show all 1184)
# Title Authors PMID Year
1
Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II. 54 61 6
19881469 2009
2
An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians. 54 61 6
18665195 2009
3
Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome. 54 61 6
18719945 2008
4
Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients. 54 61 6
17405132 2007
5
Novel USH2A mutations in Israeli patients with retinitis pigmentosa and Usher syndrome type 2. 54 61 6
17296898 2007
6
Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population. 54 61 6
15660226 2005
7
Mutational spectrum in Usher syndrome type II. 54 61 6
15025721 2004
8
Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II. 54 61 6
14740321 2004
9
The contribution of USH1C mutations to syndromic and non-syndromic deafness in the UK. 54 61 6
12702164 2003
10
Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F. 54 61 6
11398101 2001
11
A common ancestral origin of the frequent and widespread 2299delG USH2A mutation. 54 61 6
11402400 2001
12
Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D. 54 61 6
11138009 2001
13
A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C. 54 61 6
10973247 2000
14
A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene. 54 61 6
10973248 2000
15
Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa. 54 61 6
10729113 2000
16
The Usher syndrome in the Lebanese population and further refinement of the USH2A candidate region. 54 61 6
9760205 1998
17
Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa. 54 61 6
9624053 1998
18
Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48. 61 6
23023331 2012
19
Non-USH2A mutations in USH2 patients. 61 6
22147658 2012
20
Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study. 61 6
22135276 2012
21
Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapy. 61 6
22009552 2012
22
Clinical utility gene card for: Usher syndrome. 61 6
21697857 2011
23
A frameshift mutation in SANS results in atypical Usher syndrome. 61 6
21044053 2010
24
PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome. 61 6
20440071 2010
25
Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family. 61 6
18854872 2009
26
A large deletion in GPR98 causes type IIC Usher syndrome in male and female members of an Iranian family. 61 6
19357116 2009
27
GPR98 mutations cause Usher syndrome type 2 in males. 61 6
19357117 2009
28
USH1H, a novel locus for type I Usher syndrome, maps to chromosome 15q22-23. 61 6
18505454 2009
29
A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss. 61 6
17171570 2007
30
Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%. 61 6
16679490 2006
31
Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II. 61 6
15015129 2004
32
A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome. 61 6
12711741 2003
33
Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin. 61 6
12588794 2003
34
CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness. 61 6
12075507 2002
35
USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses. 61 6
12080385 2002
36
The USH1C 216G-->A mutation and the 9-repeat VNTR(t,t) allele are in complete linkage disequilibrium in the Acadian population. 61 6
11810303 2002
37
Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F. 61 6
11487575 2001
38
Identification of three novel mutations in the USH1C gene and detection of thirty-one polymorphisms used for haplotype analysis. 61 6
11139240 2001
39
Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23. 61 6
11090341 2001
40
Usher Syndrome Type II 61 6
20301515 1999
41
Usher Syndrome Type I 61 6
20301442 1999
42
A novel locus for Usher syndrome type II, USH2B, maps to chromosome 3 at p23-24.2. 61 6
10234513 1999
43
A mutation (2314delG) in the Usher syndrome type IIA gene: high prevalence and phenotypic variation. 61 6
10090909 1999
44
Full-field electroretinography, visual acuity and visual fields in Usher syndrome: a multicentre European study. 61 42
31267413 2019
45
A novel ABHD12 nonsense variant in Usher syndrome type 3 family with genotype-phenotype spectrum review. 61 42
30974196 2019
46
Novel Usher syndrome pathogenic variants identified in cases with hearing and vision loss. 61 42
31046701 2019
47
Novel recessive PDZD7 biallelic mutations in two Chinese families with non-syndromic hearing loss. 6
29048736 2018
48
Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants. 6
25262649 2014
49
American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss. 6
24651602 2014
50
A population-based study of autosomal-recessive disease-causing mutations in a founder population. 6
22981120 2012

Variations for Usher Syndrome

ClinVar genetic disease variations for Usher Syndrome:

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# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 USH2A NM_007123.5(USH2A):c.4510dup (p.Arg1504fs)duplication Pathogenic 166504 rs727503731 1:216348710-216348711 1:216175368-216175369
2 USH2A NM_206933.3(USH2A):c.8682-9A>GSNV Pathogenic 197510 rs372347027 1:216040521-216040521 1:215867179-215867179
3 USH2A NM_206933.3(USH2A):c.8681+1G>ASNV Pathogenic 228416 rs876657733 1:216051099-216051099 1:215877757-215877757
4 USH2A NM_206933.3(USH2A):c.4334_4335CT[2] (p.Cys1447fs)short repeat Pathogenic 2353 rs111033367 1:216363622-216363623 1:216190280-216190281
5 BBS1 NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)SNV Pathogenic 12143 rs113624356 11:66293652-66293652 11:66526181-66526181
6 USH2A NM_206933.3(USH2A):c.7595-2144A>GSNV Pathogenic 30722 rs786200928 1:216064540-216064540 1:215891198-215891198
7 USH1C NM_005709.3(USH1C):c.238dupC (p.Arg80Profs)duplication Pathogenic 5141 rs397515359 11:17552955-17552956 11:17531408-17531409
8 USH1C NM_153676.4(USH1C):c.216G>A (p.Val72=)SNV Pathogenic 5143 rs151045328 11:17552978-17552978 11:17531431-17531431
9 USH2A NM_206933.3(USH2A):c.11864G>A (p.Trp3955Ter)SNV Pathogenic 2357 rs111033364 1:215901574-215901574 1:215728232-215728232
10 USH2A NM_206933.3(USH2A):c.1256G>T (p.Cys419Phe)SNV Pathogenic 2359 rs121912600 1:216497582-216497582 1:216324240-216324240
11 USH2A NM_007123.5(USH2A):c.1036A>C (p.Asn346His)SNV Pathogenic 48347 rs369522997 1:216498754-216498754 1:216325412-216325412
12 USH2A NM_206933.3(USH2A):c.5581G>A (p.Gly1861Ser)SNV Pathogenic 48535 rs375668376 1:216246634-216246634 1:216073292-216073292
13 USH2A NM_206933.3(USH2A):c.8559-2A>GSNV Pathogenic 48604 rs397518039 1:216051224-216051224 1:215877882-215877882
14 USH2A NM_007123.5(USH2A):c.920_923dup (p.His308fs)duplication Pathogenic 48615 rs397518043 1:216498866-216498867 1:216325524-216325525
15 USH2A NM_206933.3(USH2A):c.9424G>T (p.Gly3142Ter)SNV Pathogenic 48626 rs397518048 1:215990485-215990485 1:215817143-215817143
16 USH2A NM_007123.5(USH2A):c.3187_3188del (p.Gln1063fs)deletion Pathogenic 265288 rs886039450 1:216380743-216380744 1:216207401-216207402
17 USH2A NM_206933.3(USH2A):c.12954C>A (p.Tyr4318Ter)SNV Pathogenic 438009 rs762159022 1:215848299-215848299 1:215674957-215674957
18 USH2A NM_206933.3(USH2A):c.12819T>A (p.Tyr4273Ter)SNV Pathogenic 438008 rs1362058696 1:215848434-215848434 1:215675092-215675092
19 USH2A NM_206933.3(USH2A):c.1055C>T (p.Thr352Ile)SNV Pathogenic 438002 rs780308389 1:216498735-216498735 1:216325393-216325393
20 ADGRV1 NM_032119.4(ADGRV1):c.12798T>A (p.Tyr4266Ter)SNV Pathogenic 438168 rs777309662 5:90074375-90074375 5:90778558-90778558
21 ADGRV1 NM_032119.4(ADGRV1):c.17314C>T (p.Arg5772Ter)SNV Pathogenic 438170 rs749956288 5:90149210-90149210 5:90853393-90853393
22 MYO7A NM_000260.4(MYO7A):c.4838del (p.Asp1613fs)deletion Pathogenic 438178 rs1199012623 11:76910849-76910849 11:77199804-77199804
23 USH2A NM_007123.5(USH2A):c.1803del (p.Gly602fs)deletion Pathogenic 503555 rs1553327452 1:216465554-216465554 1:216292212-216292212
24 USH2A NM_206933.2:c.(?_4628)_(9371_?)deldeletion Pathogenic 503557 1:216011333-216270555
25 USH2A NM_206933.3(USH2A):c.11241C>A (p.Tyr3747Ter)SNV Pathogenic 506273 rs777465132 1:215932085-215932085 1:215758743-215758743
26 USH2A NM_206933.3(USH2A):c.2610C>A (p.Cys870Ter)SNV Pathogenic 557167 rs767078782 1:216420126-216420126 1:216246784-216246784
27 PROM1 NM_001145847.2(PROM1):c.1435G>T (p.Gly479Ter)SNV Pathogenic 560483 rs1560449207 4:16002235-16002235 4:16000612-16000612
28 USH2A NM_206933.2(USH2A):c.4396+6857_6486-425deldeletion Pathogenic 503556 1:216172825-216356708 1:215999483-216183366
29 ADGRV1 NM_032119.4(ADGRV1):c.14315C>G (p.Ser4772Ter)SNV Pathogenic 635159 rs1561740143 5:90086961-90086961 5:90791144-90791144
30 USH2A NM_206933.3(USH2A):c.802G>A (p.Gly268Arg)SNV Pathogenic/Likely pathogenic 48592 rs111033280 1:216500979-216500979 1:216327637-216327637
31 USH2A NM_007123.5(USH2A):c.2299del (p.Glu767fs)deletion Pathogenic/Likely pathogenic 2351 rs80338903 1:216420437-216420437 1:216247095-216247095
32 USH2A NM_206933.3(USH2A):c.10561T>C (p.Trp3521Arg)SNV Pathogenic/Likely pathogenic 48352 rs111033264 1:215956104-215956104 1:215782762-215782762
33 ADGRV1 NM_032119.4(ADGRV1):c.6901C>T (p.Gln2301Ter)SNV Pathogenic/Likely pathogenic 6798 rs121909762 5:89986808-89986808 5:90690991-90690991
34 MYO7A NM_000260.4(MYO7A):c.2005C>T (p.Arg669Ter)SNV Pathogenic/Likely pathogenic 43169 rs111033201 11:76885871-76885871 11:77174825-77174825
35 MYO7A NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln)SNV Pathogenic/Likely pathogenic 43218 rs111033178 11:76901153-76901153 11:77190108-77190108
36 MYO7A NM_000260.4(MYO7A):c.3764del (p.Lys1255fs)deletion Pathogenic/Likely pathogenic 43223 rs111033347 11:76901754-76901754 11:77190709-77190709
37 USH2A NM_206933.3(USH2A):c.2276G>T (p.Cys759Phe)SNV Pathogenic/Likely pathogenic 2356 rs80338902 1:216420460-216420460 1:216247118-216247118
38 USH2A NM_206933.3(USH2A):c.7595-3C>GSNV Pathogenic/Likely pathogenic 197447 rs201657446 1:216062399-216062399 1:215889057-215889057
39 USH2A NM_206933.3(USH2A):c.12700A>C (p.Thr4234Pro)SNV Likely pathogenic 228311 rs577938494 1:215848553-215848553 1:215675211-215675211
40 CDH23 NM_022124.6(CDH23):c.380A>G (p.Asp127Gly)SNV Likely pathogenic 228491 rs876657754 10:73270920-73270920 10:71511163-71511163
41 USH2A NM_206933.3(USH2A):c.12295-?_14133+?deldeletion Likely pathogenic 177859 1:215844314-215848958 1:215670972-215675616
42 USH2A NM_206933.3(USH2A):c.3158-6A>GSNV Likely pathogenic 48497 rs397518010 1:216380779-216380779 1:216207437-216207437
43 MYO7A NM_000260.4(MYO7A):c.3728C>T (p.Pro1243Leu)SNV Likely pathogenic 418368 rs750358148 11:76901162-76901162 11:77190117-77190117
44 PCDH15 NM_033056.4(PCDH15):c.4462_4469dup (p.Glu1491fs)duplication Likely pathogenic 432938 rs774056663 10:55583016-55583017 10:53823256-53823257
45 USH2A NM_206933.3(USH2A):c.820C>G (p.Arg274Gly)SNV Likely pathogenic 438026 rs397518036 1:216500961-216500961 1:216327619-216327619
46 ADGRV1 NM_032119.4(ADGRV1):c.14517G>C (p.Gln4839His)SNV Likely pathogenic 438169 rs1554117973 5:90087163-90087163 5:90791346-90791346
47 ADGRV1 NM_032119.4(ADGRV1):c.8807C>G (p.Ser2936Ter)SNV Likely pathogenic 438171 rs1554090072 5:90004709-90004709 5:90708892-90708892
48 USH2A NM_007123.5(USH2A):c.3831_3834delinsG (p.Leu1278del)indel Likely pathogenic 438019 rs1215540106 1:216371904-216371907 1:216198562-216198565
49 USH2A NM_206933.3(USH2A):c.12309del (p.Phe4103fs)deletion Likely pathogenic 438006 rs1553252528 1:215848944-215848944 1:215675602-215675602
50 USH2A NM_206933.3(USH2A):c.11694del (p.Asn3899fs)deletion Likely pathogenic 438004 rs1553257502 1:215914734-215914734 1:215741392-215741392

Copy number variations for Usher Syndrome from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 44193 10 53300000 82000000 Deletion,duplication PCDH15 Usher syndrome
2 44195 10 53300000 98000000 Deletion,duplication CDH23 Usher syndrome
3 44196 11 76516957 76603934 Deletion,duplication MYO7A Usher syndrome
4 44198 11 17472017 17522539 Deletion,duplication USH1C Usher syndrome
5 44199 17 70423770 70430946 Deletion,duplication USH1G Usher syndrome
6 59431 11 75200000 77100000 Copy number MYO7A Usher syndrome

Expression for Usher Syndrome

Search GEO for disease gene expression data for Usher Syndrome.

Pathways for Usher Syndrome

GO Terms for Usher Syndrome

Cellular components related to Usher Syndrome according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.36 WHRN USH2A USH1G USH1C PROM1 PDZD7
2 cell projection GO:0042995 10.11 WHRN USH2A USH1C PROM1 PDZD7 CIB2
3 cilium GO:0005929 9.99 WHRN PROM1 PDZD7 CIB2 CEP78 BBS1
4 synapse GO:0045202 9.97 WHRN USH1C PCDH15 MYO7A ADGRV1
5 ciliary basal body GO:0036064 9.88 WHRN USH2A USH1G CEP78 BBS1
6 microvillus GO:0005902 9.8 USH1C PROM1 MYO7A CLRN1
7 photoreceptor outer segment GO:0001750 9.8 USH1C PROM1 PCDH15 MYO7A CIB2
8 photoreceptor connecting cilium GO:0032391 9.8 WHRN USH2A USH1G USH1C PDZD7 MYO7A
9 stereocilium tip GO:0032426 9.7 WHRN USH1C PDZD7
10 USH2 complex GO:1990696 9.67 WHRN USH2A PDZD7 ADGRV1
11 stereocilia ankle link complex GO:0002142 9.65 WHRN USH2A USH1C PDZD7 ADGRV1
12 periciliary membrane compartment GO:1990075 9.61 WHRN USH2A ADGRV1
13 stereocilium bundle GO:0032421 9.56 WHRN USH2A
14 photoreceptor inner segment GO:0001917 9.56 WHRN USH2A USH1G USH1C PDZD7 MYO7A
15 stereocilia ankle link GO:0002141 9.55 WHRN USH2A USH1C PDZD7 ADGRV1
16 stereocilium membrane GO:0060171 9.54 USH2A ADGRV1
17 stereocilium GO:0032420 9.28 WHRN USH1C PDZD7 PCDH15 MYO7A CLRN1

Biological processes related to Usher Syndrome according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.96 USH2A CLRN1 CDH23 BBS1 ADGRV1
2 visual perception GO:0007601 9.95 USH2A PCDH15 MYO7A CLRN1 CDH23 BBS1
3 sensory perception of light stimulus GO:0050953 9.81 WHRN USH2A USH1G USH1C PCDH15 MYO7A
4 establishment of protein localization GO:0045184 9.8 WHRN USH2A PDZD7 ADGRV1
5 equilibrioception GO:0050957 9.8 USH1G USH1C PCDH15 MYO7A CLRN1 CDH23
6 inner ear receptor cell stereocilium organization GO:0060122 9.8 WHRN USH1G USH1C PCDH15 MYO7A CDH23
7 auditory receptor cell stereocilium organization GO:0060088 9.77 WHRN PDZD7 PCDH15 MYO7A CLRN1
8 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.73 WHRN PDZD7 PCDH15 ADGRV1
9 inner ear morphogenesis GO:0042472 9.72 USH1G USH1C MYO7A
10 inner ear development GO:0048839 9.7 PCDH15 MYO7A ADGRV1
11 inner ear receptor cell differentiation GO:0060113 9.65 USH2A USH1G MYO7A
12 photoreceptor cell maintenance GO:0045494 9.65 USH2A USH1G USH1C PROM1 PCDH15 CLRN1
13 inner ear auditory receptor cell differentiation GO:0042491 9.63 USH1C PCDH15 MYO7A
14 auditory receptor cell development GO:0060117 9.54 PDZD7 CLRN1
15 maintenance of animal organ identity GO:0048496 9.51 USH2A ADGRV1
16 sensory perception of sound GO:0007605 9.32 WHRN USH2A USH1G USH1C PDZD7 PCDH15

Molecular functions related to Usher Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.55 PCDH15 EML1 CIB2 CDH23 ADGRV1
2 protein homodimerization activity GO:0042803 9.5 WHRN USH2A USH1G PDZD7 MYO7A CIB2
3 spectrin binding GO:0030507 8.8 USH1G USH1C MYO7A

Sources for Usher Syndrome

3 CDC
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9 Cosmic
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