MCID: USH001
MIFTS: 59

Usher Syndrome

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

Aliases & Classifications for Usher Syndrome

MalaCards integrated aliases for Usher Syndrome:

Name: Usher Syndrome 12 72 72 49 24 55 36 28 51 40 14 37 69
Retinitis Pigmentosa-Deafness Syndrome 24 55
Deafness-Retinitis Pigmentosa Syndrome 49 24
Graefe-Usher Syndrome 49 24
Hallgren Syndrome 49 24
Usher's Syndrome 49 24
Dystrophia Retinae Pigmentosa-Dysostosis Syndrome 49
Usher Syndromes 41
Ush 55

Characteristics:

Orphanet epidemiological data:

55
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:



Summaries for Usher Syndrome

NIH Rare Diseases : 49 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. Last updated: 3/16/2017

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 decreased fertility, tinnitus and sensorineural hearing impairment. 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 behavior/neurological and hearing/vestibular/ear

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

Genetics Home Reference : 24 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.

MedlinePlus : 40 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

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 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 91)
# Related Disease Score Top Affiliating Genes
1 usher syndrome, type iia 34.3 PDZD7 USH1C USH2A WHRN
2 usher syndrome, type ic 34.3 CDH23 MYO7A USH1C USHBP1
3 usher syndrome, type ig 34.3 CDH23 MYO7A PCDH15 USH1G
4 usher syndrome, type ik 34.2 PCDH15 USH1K
5 usher syndrome, type if 34.1 CDH23 MYO7A PCDH15 USH1C USH1G
6 usher syndrome, type id 33.9 ADGRV1 CDH23 MYO7A PCDH15 USH1C USH1G
7 usher syndrome, type iid 33.5 ADGRV1 CDH23 MYO7A PCDH15 PDZD7 USH1C
8 usher syndrome, type iic 33.3 ADGRV1 CDH23 CLRN1 MYO7A PCDH15 PDZD7
9 usher syndrome, type i 32.7 ADGRV1 CDH23 CIB2 CLRN1 EML1 MYO7A
10 usher syndrome, type iiia 32.7 ADGRV1 CDH23 CEP78 CLRN1 HARS MT-TS2
11 usher syndrome type 2 32.6 ADGRV1 CDH23 CIB2 CLRN1 HARS MYO7A
12 retinal disease 30.5 MYO7A PCDH15 USH1C USH2A
13 nonsyndromic retinitis pigmentosa 30.5 CLRN1 USH2A
14 deafness, autosomal recessive 12 30.4 CDH23 MYO7A PCDH15 USH1C
15 deafness, autosomal recessive 23 30.2 CDH23 MYO7A PCDH15
16 retinitis pigmentosa 30.2 ABHD12 ADGRV1 CDH23 CEP78 CIB2 CLRN1
17 sensorineural hearing loss 30.1 CDH23 CEP78 MYO7A USH2A
18 bardet-biedl syndrome 29.8 CDH23 MYO7A PCDH15 USH1C
19 nonsyndromic deafness 29.8 CDH23 CIB2 MYO7A PCDH15 PDZD7 USH1C
20 usher syndrome, type ij 12.4
21 usher syndrome, type iiib 12.4
22 usher syndrome, type ih 12.4
23 osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome 12.2
24 usher syndrome, type 2b 12.0
25 retinitis pigmentosa-deafness syndrome 11.9
26 pemphigus erythematosus 11.6
27 peroxisomal acyl-coa oxidase deficiency 10.8
28 mohr-tranebjaerg syndrome 10.8
29 dfnb1 10.5 MYO7A PCDH15
30 deafness, autosomal recessive 6 10.5 ADGRV1 MYO7A USH2A
31 retinitis 10.5
32 auditory system disease 10.4 CDH23 MYO7A PCDH15
33 deafness, autosomal dominant 48 10.4 CIB2 MYO7A
34 deafness, autosomal recessive 85 10.4 CDH23 MYO7A
35 polycystic kidney disease 10.4
36 perrault syndrome 10.4 CIB2 CLRN1 HARS
37 leber congenital amaurosis 4 10.3
38 deafness, autosomal recessive 83 10.3 CDH23 MYO7A
39 deafness, autosomal recessive 10.3 CDH23 CIB2 PCDH15 USH1C
40 branchiootic syndrome 1 10.3
41 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
42 blood group, i system 10.2
43 rhyns syndrome 10.2 CLRN1 USH2A
44 autosomal recessive non-syndromic sensorineural deafness type dfnb 10.1 CDH23 CIB2 MYO7A PCDH15 USH1C WHRN
45 pemphigus 10.1
46 uveitis 10.0
47 retinal degeneration 10.0
48 choroideremia 9.9
49 deafness, autosomal recessive 18a 9.8
50 deafness, autosomal recessive 31 9.8

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:

55 31 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 decreased fertility 55 31 occasional (7.5%) Occasional (29-5%) HP:0000144
2 tinnitus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000360
3 sensorineural hearing impairment 55 31 hallmark (90%) Very frequent (99-80%) HP:0000407
4 astigmatism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000483
5 abnormal electroretinogram 55 31 hallmark (90%) Very frequent (99-80%) HP:0000512
6 cataract 55 31 frequent (33%) Frequent (79-30%) HP:0000518
7 progressive visual loss 55 31 hallmark (90%) Very frequent (99-80%) HP:0000529
8 myopia 55 31 frequent (33%) Frequent (79-30%) HP:0000545
9 blindness 55 31 hallmark (90%) Very frequent (99-80%) HP:0000618
10 nystagmus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000639
11 nyctalopia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000662
12 carious teeth 55 31 occasional (7.5%) Occasional (29-5%) HP:0000670
13 abnormality of dental enamel 55 31 occasional (7.5%) Occasional (29-5%) HP:0000682
14 microdontia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000691
15 psychosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000709
16 hallucinations 55 31 occasional (7.5%) Occasional (29-5%) HP:0000738
17 anxiety 55 31 occasional (7.5%) Occasional (29-5%) HP:0000739
18 visual field defect 55 31 hallmark (90%) Very frequent (99-80%) HP:0001123
19 ataxia 55 31 frequent (33%) Frequent (79-30%) HP:0001251
20 hypertrophic cardiomyopathy 55 31 occasional (7.5%) Occasional (29-5%) HP:0001639
21 cerebral cortical atrophy 55 31 occasional (7.5%) Occasional (29-5%) HP:0002120
22 myopathy 55 31 occasional (7.5%) Occasional (29-5%) HP:0003198
23 emg abnormality 55 31 occasional (7.5%) Occasional (29-5%) HP:0003457
24 aplasia/hypoplasia of the cerebellum 55 31 occasional (7.5%) Occasional (29-5%) HP:0007360
25 abnormality of retinal pigmentation 55 31 hallmark (90%) Very frequent (99-80%) HP:0007703
26 vestibular areflexia 55 31 hallmark (90%) Very frequent (99-80%) HP:0008568
27 hyperacusis 55 31 occasional (7.5%) Occasional (29-5%) HP:0010780
28 abnormality of cardiovascular system physiology 55 31 occasional (7.5%) Occasional (29-5%) HP:0011025
29 abnormality of dental color 55 31 occasional (7.5%) Occasional (29-5%) HP:0011073
30 cognitive impairment 55 31 frequent (33%) Frequent (79-30%) HP:0100543
31 visual impairment 55 Very frequent (99-80%)
32 depression 55 Occasional (29-5%)
33 vestibular dysfunction 55 Very frequent (99-80%)
34 high-grade hypermetropia 55 Frequent (79-30%)
35 depressivity 31 occasional (7.5%) HP:0000716
36 high hypermetropia 31 frequent (33%) HP:0008499

UMLS symptoms related to Usher Syndrome:


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

MGI Mouse Phenotypes related to Usher Syndrome:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10 ABHD12 ADGRV1 CDH23 CIB2 CLRN1 EML1
2 hearing/vestibular/ear MP:0005377 9.97 USH1G USH2A WHRN ABHD12 ADGRV1 CDH23
3 nervous system MP:0003631 9.77 ABHD12 ADGRV1 CDH23 CIB2 CLRN1 EML1
4 vision/eye MP:0005391 9.4 ABHD12 ADGRV1 CDH23 CLRN1 EML1 MYO7A

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 Nutraceutical

Interventional clinical trials:

(show all 13)

# Name Status NCT ID Phase Drugs
1 Study of UshStat in Patients With Retinitis Pigmentosa Associated With Usher Syndrome Type 1B Recruiting NCT01505062 Phase 1, Phase 2
2 Retinal Imaging of Subjects Implanted With Ciliary Neurotrophic Factor (CNTF)-Releasing Encapsulated Cell Implant for Early-stage Retinitis Pigmentosa Active, not recruiting NCT01530659 Phase 2 NT-501
3 A Study to Determine the Long-Term Safety, Tolerability and Biological Activity of UshStat® in Patients With Usher Syndrome Type 1B Enrolling by invitation NCT02065011 Phase 1, Phase 2 UshStat
4 Clinical and Genetic Examination of Usher Syndrome Patients' Cohort in Europe Unknown status NCT01954953
5 A Genetic Analysis of Usher Syndrome in Ashkenazi Jews Completed NCT00016471
6 Study of Usher Syndromes, Type 1 and Type 2 Completed NCT00001347
7 Molecular Genetics of Retinal Degenerations Completed NCT00231010
8 Rate of Progression in USH2A Related Retinal Degeneration Recruiting NCT03146078
9 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940
10 Stem Cell Ophthalmology Treatment Study II Recruiting NCT03011541
11 Natural History and Genetic Studies of Usher Syndrome Active, not recruiting NCT00106743
12 Clinical and Genetic Testing of Patients With Usher Syndrome Active, not recruiting NCT03319524
13 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 28

Anatomical Context for Usher Syndrome

MalaCards organs/tissues related to Usher Syndrome:

38
Retina, Eye, Testes, Cerebellum, Bone

Publications for Usher Syndrome

Articles related to Usher Syndrome:

(show top 50) (show all 461)
# Title Authors Year
1
Targeted next generation sequencing identified a novel mutation in MYO7A causing Usher syndrome type 1 in an Iranian consanguineous pedigree. ( 29287847 )
2018
2
Identification of two novel pathogenic compound heterozygous MYO7A mutations in Usher syndrome by whole exome sequencing. ( 29287864 )
2018
3
A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans. ( 29300381 )
2018
4
Antisense oligonucleotide therapy rescues disruptions in organization of exploratory movements associated with Usher syndrome type 1C in mice. ( 29037661 )
2018
5
Identification of a novel MYO7A mutation in Usher syndrome type 1. ( 29416772 )
2018
6
The Usher Syndrome Type IIIB Histidyl-tRNA Synthetase Mutation Confers Temperature Sensitivity. ( 28632987 )
2017
7
Genetic analysis of a Chinese family with members affected with Usher syndrome type II and Waardenburg syndrome type IV. ( 29106856 )
2017
8
A homozygous MYO7A mutation associated to Usher syndrome and unilateral auditory neuropathy spectrum disorder. ( 28731162 )
2017
9
Usher syndrome and late-onset psychosis. ( 28541731 )
2017
10
Prevalence of macular abnormalities assessed by optical coherence tomography in patients with Usher syndrome. ( 28704163 )
2017
11
Outcomes of Late Implantation in Usher Syndrome Patients. ( 28382120 )
2017
12
Delayed diagnosis of a patient with Usher syndrome 1C in a Louisiana Acadian family highlights the necessity of timely genetic testing for the diagnosis and management of congenital hearing loss. ( 29276601 )
2017
13
Gene therapy approaches for prevention of retinal degeneration in Usher syndrome. ( 28054582 )
2017
14
Rescue of peripheral vestibular function in Usher syndrome mice using a splice-switching antisense oligonucleotide. ( 28633508 )
2017
15
Gene Therapy Restores Balance and Auditory Functions in a Mouse Model of Usher Syndrome. ( 28254438 )
2017
16
Characterization of the ternary Usher syndrome SANS/ush2a/whirlin protein complex. ( 28137943 )
2017
17
Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome. ( 28944237 )
2017
18
Modeling and Preventing Progressive Hearing Loss in Usher Syndrome III. ( 29044151 )
2017
19
A novel mutation in the MYO7A gene is associated with Usher syndrome type 1 in a Chinese family. ( 28688563 )
2017
20
Adenocarcinoma of the Rectum in a 27-year-old Patient with Usher Syndrome : Is there a Genetic Correlation? ( 29364104 )
2017
21
Cochlear Implantation in Patients With Usher Syndrome Type IIa Increases Performance and Quality of Life. ( 28498263 )
2017
22
Gene therapy restores auditory and vestibular function in a mouse model of Usher syndrome type 1c. ( 28165476 )
2017
23
Psychosocial well-being and health-related quality of life in a UK population with Usher syndrome. ( 28082366 )
2017
24
Targeted next generation sequencing in Italian patients with Usher syndrome: phenotype-genotype correlations. ( 29142287 )
2017
25
Visual Outcomes in Japanese Patients with Retinitis Pigmentosa and Usher Syndrome Caused by USH2A Mutations. ( 28678594 )
2017
26
A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula. ( 28469144 )
2017
27
Usher syndrome type 1-associated cadherins shape the photoreceptor outer segment. ( 28495838 )
2017
28
Local gene therapy durably restores vestibular function in a mouse model of Usher syndrome type 1G. ( 28835534 )
2017
29
The E3 ligase Ubr3 regulates Usher syndrome and MYH9 disorder proteins in the auditory organs of Drosophila and mammals. ( 27331610 )
2016
30
The Time Course of Deafness and Retinal Degeneration in a Kunming Mouse Model for Usher Syndrome. ( 27186975 )
2016
31
CEP78 is mutated in a distinct type of Usher syndrome. ( 27627988 )
2016
32
Outer Retinal Changes Including the Ellipsoid Zone Band in Usher Syndrome 1B due to MYO7A Mutations. ( 27409480 )
2016
33
An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients. ( 27460420 )
2016
34
Usher syndrome in Denmark: mutation spectrum and some clinical observations. ( 27957503 )
2016
35
A small molecule mitigates hearing loss in a mouse model of Usher syndrome III. ( 27110679 )
2016
36
Assessing Photoreceptor Structure in Retinitis Pigmentosa and Usher Syndrome. ( 27145477 )
2016
37
Impairment of Vision in a Mouse Model of Usher Syndrome Type III. ( 26943149 )
2016
38
Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa. ( 26927203 )
2016
39
Compound heterozygous MYO7A mutations segregating Usher syndrome type 2 in a Han family. ( 27729122 )
2016
40
Impact of the Usher syndrome on olfaction. ( 26620972 )
2016
41
CLINICAL PRESENTATION AND DISEASE COURSE OF USHER SYNDROME BECAUSE OF MUTATIONS IN MYO7A OR USH2A. ( 27828912 )
2016
42
The combination of vestibular impairment and congenital sensorineural hearing loss predisposes patients to ocular anomalies, including Usher syndrome. ( 27743452 )
2016
43
Genetic analysis of Tunisian families with Usher syndrome type 1: toward improving early molecular diagnosis. ( 27440999 )
2016
44
A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa. ( 27318125 )
2016
45
Hearing aid fitting for visual and hearing impaired patients with Usher Syndrome type IIa. ( 27759911 )
2016
46
Diversity of the Genes Implicated in Algerian Patients Affected by Usher Syndrome. ( 27583663 )
2016
47
Frequency of Usher syndrome type 1 in deaf children by massively parallel DNA sequencing. ( 26791358 )
2016
48
Partial USH2A deletions contribute to Usher syndrome in Denmark. ( 26559128 )
2015
49
Whole-exome sequencing identifies USH2A mutations in a pseudo-dominant Usher syndrome family. ( 26310143 )
2015
50
Identification of a Novel CLRN1 Gene Mutation in Usher Syndrome Type 3: Two Case Reports. ( 25743179 )
2015

Variations for Usher Syndrome

ClinVar genetic disease variations for Usher Syndrome:

6 (show all 49)
# Gene Variation Type Significance SNP ID Assembly Location
1 MT-TS2 m.12258C> A single nucleotide variant Pathogenic rs118203888 GRCh37 Chromosome MT, 12258: 12258
2 USH2A NM_206933.2(USH2A): c.7595-2144A> G single nucleotide variant Pathogenic/Likely pathogenic rs786200928 GRCh37 Chromosome 1, 216064540: 216064540
3 MYO7A NM_000260.3(MYO7A): c.2005C> T (p.Arg669Ter) single nucleotide variant Pathogenic/Likely pathogenic rs111033201 GRCh37 Chromosome 11, 76885871: 76885871
4 MYO7A NM_000260.3(MYO7A): c.3719G> A (p.Arg1240Gln) single nucleotide variant Pathogenic/Likely pathogenic rs111033178 GRCh37 Chromosome 11, 76901153: 76901153
5 MYO7A NM_000260.3(MYO7A): c.3764delA (p.Lys1255Argfs) deletion Pathogenic/Likely pathogenic rs111033347 GRCh37 Chromosome 11, 76901755: 76901755
6 USH2A NM_206933.2(USH2A): c.10561T> C (p.Trp3521Arg) single nucleotide variant Pathogenic/Likely pathogenic rs111033264 GRCh37 Chromosome 1, 215956104: 215956104
7 USH2A NM_206933.2(USH2A): c.920_923dupGCCA (p.His308Glnfs) duplication Pathogenic rs397518043 GRCh37 Chromosome 1, 216498867: 216498870
8 USH2A NM_206933.2(USH2A): c.7595-3C> G single nucleotide variant Likely pathogenic rs201657446 GRCh37 Chromosome 1, 216062399: 216062399
9 USH2A NM_206933.2(USH2A): c.2299delG (p.Glu767Serfs) deletion Pathogenic rs80338903 GRCh37 Chromosome 1, 216420437: 216420437
10 USH2A NM_206933.2(USH2A): c.1256G> T (p.Cys419Phe) single nucleotide variant Pathogenic/Likely pathogenic rs121912600 GRCh37 Chromosome 1, 216497582: 216497582
11 USH1C NM_005709.3(USH1C): c.238dupC (p.Arg80Profs) duplication Pathogenic rs397515359 GRCh37 Chromosome 11, 17552956: 17552956
12 USH1C NM_005709.3(USH1C): c.216G> A (p.Val72=) single nucleotide variant Pathogenic/Likely pathogenic rs151045328 GRCh37 Chromosome 11, 17552978: 17552978
13 ADGRV1 NM_032119.3(ADGRV1): c.6901C> T (p.Gln2301Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121909762 GRCh37 Chromosome 5, 89986808: 89986808
14 USH2A NM_206933.2(USH2A): c.2081G> A (p.Cys694Tyr) single nucleotide variant Likely pathogenic rs137954284 GRCh37 Chromosome 1, 216424331: 216424331
15 MYO7A NM_000260.3(MYO7A): c.3728C> T (p.Pro1243Leu) single nucleotide variant Likely pathogenic rs750358148 GRCh37 Chromosome 11, 76901162: 76901162
16 USH2A NM_206933.2(USH2A): c.15298-1176A> G single nucleotide variant Likely pathogenic rs144467375 GRCh37 Chromosome 1, 215803553: 215803553
17 USH2A NM_206933.2(USH2A): c.14426C> T (p.Thr4809Ile) single nucleotide variant Likely pathogenic rs770553471 GRCh37 Chromosome 1, 215822026: 215822026
18 USH2A NM_206933.2(USH2A): c.13750dup (p.Thr4584Asnfs) duplication Likely pathogenic GRCh37 Chromosome 1, 215847503: 215847503
19 USH2A NM_206933.2(USH2A): c.12954C> A (p.Tyr4318Ter) single nucleotide variant Pathogenic rs762159022 GRCh37 Chromosome 1, 215848299: 215848299
20 USH2A NM_206933.2(USH2A): c.12819T> A (p.Tyr4273Ter) single nucleotide variant Likely pathogenic GRCh37 Chromosome 1, 215848434: 215848434
21 USH2A NM_206933.2(USH2A): c.12309delC (p.Phe4103Leufs) deletion Likely pathogenic GRCh37 Chromosome 1, 215848944: 215848944
22 USH2A NM_206933.2(USH2A): c.11694delC (p.Asn3899Thrfs) deletion Likely pathogenic GRCh37 Chromosome 1, 215914734: 215914734
23 USH2A NM_206933.2(USH2A): c.10559A> G (p.Asn3520Ser) single nucleotide variant Likely pathogenic rs777043718 GRCh37 Chromosome 1, 215956106: 215956106
24 USH2A NM_206933.2(USH2A): c.9860_9873delATGATGGCCATGGC (p.His3287Profs) deletion Likely pathogenic GRCh37 Chromosome 1, 215972334: 215972347
25 USH2A NM_206933.2(USH2A): c.5603T> G (p.Phe1868Cys) single nucleotide variant Likely pathogenic GRCh37 Chromosome 1, 216246612: 216246612
26 USH2A NM_206933.2(USH2A): c.3831_3834delACTAinsG (p.Leu1278del) indel Likely pathogenic GRCh37 Chromosome 1, 216371904: 216371907
27 USH2A NM_206933.2(USH2A): c.2994A> T (p.Arg998Ser) single nucleotide variant Likely pathogenic GRCh37 Chromosome 1, 216390892: 216390892
28 USH2A NM_206933.2(USH2A): c.1055C> T (p.Thr352Ile) single nucleotide variant Likely pathogenic rs780308389 GRCh37 Chromosome 1, 216498735: 216498735
29 USH2A NM_206933.2(USH2A): c.895delC (p.Gln299Asnfs) deletion Likely pathogenic GRCh37 Chromosome 1, 216498895: 216498895
30 USH2A NM_206933.2(USH2A): c.820C> G (p.Arg274Gly) single nucleotide variant Likely pathogenic rs397518036 GRCh37 Chromosome 1, 216500961: 216500961
31 ADGRV1 NM_032119.3(ADGRV1): c.8807C> G (p.Ser2936Ter) single nucleotide variant Likely pathogenic GRCh37 Chromosome 5, 90004709: 90004709
32 ADGRV1 NM_032119.3(ADGRV1): c.12798T> A (p.Tyr4266Ter) single nucleotide variant Likely pathogenic rs777309662 GRCh37 Chromosome 5, 90074375: 90074375
33 ADGRV1 NM_032119.3(ADGRV1): c.14517G> C (p.Gln4839His) single nucleotide variant Likely pathogenic GRCh37 Chromosome 5, 90087163: 90087163
34 ADGRV1 NM_032119.3(ADGRV1): c.17314C> T (p.Arg5772Ter) single nucleotide variant Likely pathogenic rs749956288 GRCh37 Chromosome 5, 90149210: 90149210
35 USH1C NM_005709.3(USH1C): c.748_759+5del17 deletion Likely pathogenic GRCh38 Chromosome 11, 17524446: 17524462
36 USH1C NM_153676.3(USH1C): c.440A> G (p.His147Arg) single nucleotide variant Likely pathogenic rs777591673 GRCh38 Chromosome 11, 17527279: 17527279
37 MYO7A NM_000260.3(MYO7A): c.22dup (p.Asp8Glyfs) duplication Likely pathogenic GRCh38 Chromosome 11, 77142712: 77142712
38 MYO7A NM_000260.3(MYO7A): c.324C> A (p.Tyr108Ter) single nucleotide variant Likely pathogenic rs116892396 GRCh37 Chromosome 11, 76866991: 76866991
39 MYO7A NM_000260.3(MYO7A): c.721C> T (p.Arg241Cys) single nucleotide variant Likely pathogenic rs782166819 GRCh37 Chromosome 11, 76868036: 76868036
40 MYO7A NM_000260.3(MYO7A): c.1849T> C (p.Ser617Pro) single nucleotide variant Likely pathogenic rs782063761 GRCh37 Chromosome 11, 76883845: 76883845
41 MYO7A NM_000260.3(MYO7A): c.1977delA (p.Gly660Glufs) deletion Likely pathogenic GRCh37 Chromosome 11, 76885843: 76885843
42 MYO7A NM_000260.3(MYO7A): c.2905-1G> A single nucleotide variant Likely pathogenic GRCh37 Chromosome 11, 76892996: 76892996
43 MYO7A NM_000260.3(MYO7A): c.3546C> A (p.Asn1182Lys) single nucleotide variant Likely pathogenic GRCh38 Chromosome 11, 77189386: 77189386
44 MYO7A NM_000260.3(MYO7A): c.4838delA (p.Asp1613Valfs) deletion Pathogenic GRCh38 Chromosome 11, 77199804: 77199804
45 MYO7A NM_000260.3(MYO7A): c.6551C> T (p.Thr2184Met) single nucleotide variant Likely pathogenic GRCh38 Chromosome 11, 77213972: 77213972
46 PCDH15 NC_000010.10: g.55829578_56723036del893459 deletion Likely pathogenic GRCh37 Chromosome 10, 55829578: 56723036
47 PCDH15 NC_000010.10: g.56104359_56108448del4090 deletion Likely pathogenic GRCh37 Chromosome 10, 56104359: 56108448
48 USH2A NC_000001.10: g.215958623_215961591del2969 deletion Likely pathogenic GRCh37 Chromosome 1, 215958623: 215961591
49 covers 22 genes, none of which curated to show dosage sensitivity NC_000001.10: g.216240159_222780953del6540795 deletion Likely pathogenic GRCh37 Chromosome 1, 216240159: 222780953

Copy number variations for Usher Syndrome from CNVD:

7
# CNVD ID Chromosom 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 13)
# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.99 CEP78 CIB2 PDZD7 USH1C USH2A WHRN
2 cilium GO:0005929 9.83 CEP78 CIB2 PDZD7 WHRN
3 ciliary basal body GO:0036064 9.76 CEP78 USH1G USH2A WHRN
4 photoreceptor outer segment GO:0001750 9.71 CIB2 MYO7A PCDH15 USH1C
5 microvillus GO:0005902 9.67 CLRN1 MYO7A USH1C
6 photoreceptor connecting cilium GO:0032391 9.62 MYO7A USH1G USH2A WHRN
7 stereocilium bundle GO:0032421 9.54 PCDH15 USH2A WHRN
8 periciliary membrane compartment GO:1990075 9.48 USH2A WHRN
9 stereocilia ankle link complex GO:0002142 9.43 USH2A WHRN
10 stereocilia ankle link GO:0002141 9.43 PDZD7 USH2A WHRN
11 photoreceptor inner segment GO:0001917 9.43 CIB2 MYO7A USH1C USH1G USH2A WHRN
12 USH2 complex GO:1990696 9.33 PDZD7 USH2A WHRN
13 stereocilium GO:0032420 9.23 ADGRV1 CDH23 CIB2 CLRN1 MYO7A PCDH15

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 9.91 ADGRV1 CDH23 CLRN1 MYO7A PCDH15 USH1C
2 visual perception GO:0007601 9.88 ADGRV1 CDH23 CLRN1 MYO7A PCDH15 USH2A
3 sensory perception of light stimulus GO:0050953 9.81 ADGRV1 CDH23 CLRN1 MYO7A PCDH15 USH1C
4 inner ear receptor cell stereocilium organization GO:0060122 9.8 CDH23 MYO7A PCDH15 USH1C USH1G WHRN
5 auditory receptor cell stereocilium organization GO:0060088 9.77 CLRN1 MYO7A PCDH15 PDZD7 WHRN
6 inner ear morphogenesis GO:0042472 9.7 MYO7A USH1C USH1G
7 establishment of protein localization GO:0045184 9.65 PDZD7 USH2A WHRN
8 inner ear auditory receptor cell differentiation GO:0042491 9.63 MYO7A PCDH15 USH1C
9 inner ear receptor cell differentiation GO:0060113 9.61 MYO7A USH1G USH2A
10 photoreceptor cell maintenance GO:0045494 9.56 ADGRV1 CDH23 CIB2 CLRN1 PCDH15 USH1C
11 adult walking behavior GO:0007628 9.55 ABHD12 PCDH15
12 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.54 PCDH15 PDZD7
13 auditory receptor cell development GO:0060117 9.51 CLRN1 PDZD7
14 maintenance of animal organ identity GO:0048496 9.49 ADGRV1 USH2A
15 equilibrioception GO:0050957 9.1 CDH23 CLRN1 MYO7A PCDH15 USH1C USH1G

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 ADGRV1 CDH23 CIB2 EML1 PCDH15
2 protein homodimerization activity GO:0042803 9.43 CIB2 MYO7A PDZD7 USH1G USH2A WHRN
3 spectrin binding GO:0030507 8.8 MYO7A USH1C USH1G

Sources for Usher Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....