MCID: USH001
MIFTS: 58

Usher Syndrome

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

Aliases & Classifications for Usher Syndrome

MalaCards integrated aliases for Usher Syndrome:

Name: Usher Syndrome 12 76 53 25 59 37 29 55 6 43 15 38 40 73
Retinitis Pigmentosa-Deafness Syndrome 25 59
Deafness-Retinitis Pigmentosa Syndrome 53 25
Graefe-Usher Syndrome 53 25
Hallgren Syndrome 53 25
Usher's Syndrome 53 25
Dystrophia Retinae Pigmentosa-Dysostosis Syndrome 53
Usher Syndromes 44
Ush 59

Characteristics:

Orphanet epidemiological data:

59
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 : 53 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.

MalaCards based summary : Usher Syndrome, also known as retinitis pigmentosa-deafness syndrome, is related to usher syndrome, type ig and usher syndrome, type iia, and has symptoms including coughing, snoring and tinnitus. 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 decreased fertility and tinnitus

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

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.

MedlinePlus : 43 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

Wikipedia : 76 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 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 89)
# Related Disease Score Top Affiliating Genes
1 usher syndrome, type ig 34.7 CDH23 MYO7A PCDH15 USH1G
2 usher syndrome, type iia 34.7 PDZD7 USH1C USH2A WHRN
3 usher syndrome, type ic 34.7 CDH23 MYO7A USH1C USHBP1
4 usher syndrome, type ik 34.6 PCDH15 USH1K
5 usher syndrome, type if 34.5 CDH23 MYO7A PCDH15 USH1C USH1G
6 usher syndrome, type id 34.1 ADGRV1 CDH23 MYO7A PCDH15 USH1C USH1G
7 retinitis pigmentosa-deafness syndrome 33.8 ADGRV1 CDH23 MYO7A PCDH15
8 usher syndrome, type iid 33.5 ADGRV1 CDH23 MYO7A PCDH15 PDZD7 USH1C
9 usher syndrome, type iic 33.2 ADGRV1 CDH23 CLRN1 MYO7A PCDH15 PDZD7
10 usher syndrome, type iiia 33.1 ADGRV1 CDH23 CEP78 CLRN1 HARS MYO7A
11 usher syndrome type 2 32.3 ADGRV1 CDH23 CIB2 CLRN1 HARS MYO7A
12 usher syndrome, type i 31.4 ADGRV1 CDH23 CIB2 CLRN1 EML1 MYO7A
13 nonsyndromic retinitis pigmentosa 31.0 CLRN1 USH2A
14 retinal disease 30.9 MYO7A PCDH15 USH1C USH2A
15 bardet-biedl syndrome 30.2 CDH23 MYO7A PCDH15 USH1C
16 sensorineural hearing loss 30.0 CDH23 CEP78 MYO7A PCDH15 USH2A WHRN
17 fundus dystrophy 30.0 ABHD12 MYO7A USH2A
18 retinitis pigmentosa 29.4 ABHD12 ADGRV1 CDH23 CEP78 CIB2 CLRN1
19 nonsyndromic deafness 29.3 ADGRV1 CDH23 CIB2 MYO7A PCDH15 PDZD7
20 usher syndrome, type ij 12.4
21 usher syndrome, type iiib 12.4
22 usher syndrome, type ih 12.3
23 osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome 12.2
24 usher syndrome, type 2b 11.8
25 pemphigus erythematosus 11.6
26 alstrom syndrome 11.5
27 dfnb1 10.9 MYO7A PCDH15
28 peroxisomal acyl-coa oxidase deficiency 10.8
29 mohr-tranebjaerg syndrome 10.8
30 neonatal adrenoleukodystrophy 10.8
31 deafness, autosomal recessive 23 10.8 CDH23 MYO7A PCDH15
32 deafness, autosomal recessive 12 10.8 CDH23 MYO7A PCDH15
33 deafness, autosomal recessive 6 10.8 ADGRV1 MYO7A USH2A
34 auditory system disease 10.8 CDH23 MYO7A PCDH15
35 deafness, autosomal dominant 48 10.7 CIB2 MYO7A
36 deafness, autosomal recessive 85 10.7 CDH23 MYO7A
37 deafness, autosomal recessive 83 10.7 CDH23 MYO7A
38 perrault syndrome 10.6 CIB2 CLRN1 HARS
39 yemenite deaf-blind hypopigmentation syndrome 10.5 MYO7A USH2A
40 deafness, autosomal recessive 10.5 CIB2 PCDH15 USH1C WHRN
41 retinitis 10.5
42 type i 10.5
43 polycystic kidney disease 10.4
44 leber congenital amaurosis 4 10.3
45 autosomal recessive non-syndromic sensorineural deafness type dfnb 10.3 CDH23 CIB2 MYO7A PCDH15 USH1C WHRN
46 autosomal recessive nonsyndromic deafness 3 10.3 CDH23 MYO7A
47 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
48 pemphigus 10.1
49 retinal degeneration 10.0
50 uveitis 10.0

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:

59 32 (show all 35)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 decreased fertility 59 32 occasional (7.5%) Occasional (29-5%) HP:0000144
2 tinnitus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000360
3 sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000407
4 astigmatism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000483
5 abnormal electroretinogram 59 32 hallmark (90%) Very frequent (99-80%) HP:0000512
6 cataract 59 32 frequent (33%) Frequent (79-30%) HP:0000518
7 progressive visual loss 59 32 hallmark (90%) Very frequent (99-80%) HP:0000529
8 myopia 59 32 frequent (33%) Frequent (79-30%) HP:0000545
9 blindness 59 32 hallmark (90%) Very frequent (99-80%) HP:0000618
10 nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000639
11 nyctalopia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000662
12 carious teeth 59 32 occasional (7.5%) Occasional (29-5%) HP:0000670
13 abnormality of dental enamel 59 32 occasional (7.5%) Occasional (29-5%) HP:0000682
14 microdontia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000691
15 psychosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000709
16 depressivity 59 32 occasional (7.5%) Occasional (29-5%) HP:0000716
17 hallucinations 59 32 occasional (7.5%) Occasional (29-5%) HP:0000738
18 anxiety 59 32 occasional (7.5%) Occasional (29-5%) HP:0000739
19 visual field defect 59 32 hallmark (90%) Very frequent (99-80%) HP:0001123
20 ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0001251
21 hypertrophic cardiomyopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001639
22 cerebral cortical atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0002120
23 myopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0003198
24 emg abnormality 59 32 occasional (7.5%) Occasional (29-5%) HP:0003457
25 aplasia/hypoplasia of the cerebellum 59 32 occasional (7.5%) Occasional (29-5%) HP:0007360
26 abnormality of retinal pigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007703
27 vestibular areflexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0008568
28 hyperacusis 59 32 occasional (7.5%) Occasional (29-5%) HP:0010780
29 abnormality of cardiovascular system physiology 59 32 occasional (7.5%) Occasional (29-5%) HP:0011025
30 abnormality of dental color 59 32 occasional (7.5%) Occasional (29-5%) HP:0011073
31 cognitive impairment 59 32 frequent (33%) Frequent (79-30%) HP:0100543
32 visual impairment 59 Very frequent (99-80%)
33 vestibular dysfunction 59 Very frequent (99-80%)
34 high-grade hypermetropia 59 Frequent (79-30%)
35 high hypermetropia 32 frequent (33%) HP:0008499

UMLS symptoms related to Usher Syndrome:


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

MGI Mouse Phenotypes related to Usher Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.03 ABHD12 ADGRV1 CDH23 CIB2 CLRN1 EML1
2 hearing/vestibular/ear MP:0005377 9.97 PDZD7 USH1C USH1G USH2A WHRN ABHD12
3 nervous system MP:0003631 9.8 USH2A WHRN ABHD12 ADGRV1 CDH23 CIB2
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 Not Applicable
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 29

Anatomical Context for Usher Syndrome

MalaCards organs/tissues related to Usher Syndrome:

41
Retina, Eye, Testes, Cerebellum, Bone

Publications for Usher Syndrome

Articles related to Usher Syndrome:

(show top 50) (show all 475)
# Title Authors Year
1
Identification of two novel compound heterozygous mutations of ADGRV1 in a Chinese family with Usher syndrome type IIC. ( 29883260 )
2018
2
Utility of whole exome sequencing in the diagnosis of Usher syndrome: Report of novel compound heterozygous MYO7A mutations. ( 29605349 )
2018
3
The Genetics of Usher Syndrome in the Israeli and Palestinian Populations. ( 29490346 )
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
A novel homozygous variant of GPR98 causes usher syndrome type IIC in a consanguineous Chinese family by next generation sequencing. ( 29890953 )
2018
7
Targeted next generation sequencing identified a novel mutation in MYO7A causing Usher syndrome type 1 in an Iranian consanguineous pedigree. ( 29287847 )
2018
8
A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans. ( 29300381 )
2018
9
A Natural Occurring Mouse Model with Adgrv1 Mutation of Usher Syndrome 2C and Characterization of its Recombinant Inbred Strains. ( 29961073 )
2018
10
Identification of two novel pathogenic compound heterozygous MYO7A mutations in Usher syndrome by whole exome sequencing. ( 29287864 )
2018
11
Comprehensive Molecular Screening in Chinese Usher Syndrome Patients. ( 29625443 )
2018
12
SD-OCT imaging as a valuable tool to support molecular genetic diagnostics of Usher syndrome type 1. ( 29551606 )
2018
13
Severe retinal degeneration at an early age in Usher syndrome type 1B associated with homozygous splice site mutations in MYO7A gene. ( 29942180 )
2018
14
Characterization of the ternary Usher syndrome SANS/ush2a/whirlin protein complex. ( 28137943 )
2017
15
The Usher Syndrome Type IIIB Histidyl-tRNA Synthetase Mutation Confers Temperature Sensitivity. ( 28632987 )
2017
16
Targeted next generation sequencing in Italian patients with Usher syndrome: phenotype-genotype correlations. ( 29142287 )
2017
17
Visual Outcomes in Japanese Patients with Retinitis Pigmentosa and Usher Syndrome Caused by USH2A Mutations. ( 28678594 )
2017
18
Usher syndrome and late-onset psychosis. ( 28541731 )
2017
19
Usher syndrome type 1-associated cadherins shape the photoreceptor outer segment. ( 28495838 )
2017
20
Gene therapy approaches for prevention of retinal degeneration in Usher syndrome. ( 28054582 )
2017
21
Outcomes of Late Implantation in Usher Syndrome Patients. ( 28382120 )
2017
22
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
23
Rescue of peripheral vestibular function in Usher syndrome mice using a splice-switching antisense oligonucleotide. ( 28633508 )
2017
24
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
25
A homozygous MYO7A mutation associated to Usher syndrome and unilateral auditory neuropathy spectrum disorder. ( 28731162 )
2017
26
Prevalence of macular abnormalities assessed by optical coherence tomography in patients with Usher syndrome. ( 28704163 )
2017
27
Psychosocial well-being and health-related quality of life in a UK population with Usher syndrome. ( 28082366 )
2017
28
A novel mutation in the MYO7A gene is associated with Usher syndrome type 1 in a Chinese family. ( 28688563 )
2017
29
Adenocarcinoma of the Rectum in a 27-year-old Patient with Usher Syndrome : Is there a Genetic Correlation? ( 29364104 )
2017
30
Genetic analysis of a Chinese family with members affected with Usher syndrome type II and Waardenburg syndrome type IV. ( 29106856 )
2017
31
Gene Therapy Restores Balance and Auditory Functions in a Mouse Model of Usher Syndrome. ( 28254438 )
2017
32
Cochlear Implantation in Patients With Usher Syndrome Type IIa Increases Performance and Quality of Life. ( 28498263 )
2017
33
[Usher syndrome: about a case]. ( 28979619 )
2017
34
Gene therapy restores auditory and vestibular function in a mouse model of Usher syndrome type 1c. ( 28165476 )
2017
35
Modeling and Preventing Progressive Hearing Loss in Usher Syndrome III. ( 29044151 )
2017
36
Local gene therapy durably restores vestibular function in a mouse model of Usher syndrome type 1G. ( 28835534 )
2017
37
A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula. ( 28469144 )
2017
38
Usher syndrome Type I in an adult Nepalese male: a rare case report. ( 29634714 )
2017
39
An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients. ( 27460420 )
2016
40
Impact of the Usher syndrome on olfaction. ( 26620972 )
2016
41
The combination of vestibular impairment and congenital sensorineural hearing loss predisposes patients to ocular anomalies, including Usher syndrome. ( 27743452 )
2016
42
Genetic analysis of Tunisian families with Usher syndrome type 1: toward improving early molecular diagnosis. ( 27440999 )
2016
43
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
44
A small molecule mitigates hearing loss in a mouse model of Usher syndrome III. ( 27110679 )
2016
45
Assessing Photoreceptor Structure in Retinitis Pigmentosa and Usher Syndrome. ( 27145477 )
2016
46
CEP78 is mutated in a distinct type of Usher syndrome. ( 27627988 )
2016
47
Compound heterozygous MYO7A mutations segregating Usher syndrome type 2 in a Han family. ( 27729122 )
2016
48
Frequency of Usher syndrome type 1 in deaf children by massively parallel DNA sequencing. ( 26791358 )
2016
49
CLINICAL PRESENTATION AND DISEASE COURSE OF USHER SYNDROME BECAUSE OF MUTATIONS IN MYO7A OR USH2A. ( 27828912 )
2016
50
The Time Course of Deafness and Retinal Degeneration in a Kunming Mouse Model for Usher Syndrome. ( 27186975 )
2016

Variations for Usher Syndrome

ClinVar genetic disease variations for Usher Syndrome:

6
(show top 50) (show all 107)
# Gene Variation Type Significance SNP ID Assembly Location
1 USH2A NM_206933.2(USH2A): c.2299delG (p.Glu767Serfs) deletion Pathogenic/Likely pathogenic rs80338903 GRCh37 Chromosome 1, 216420437: 216420437
2 USH2A NM_206933.2(USH2A): c.2299delG (p.Glu767Serfs) deletion Pathogenic/Likely pathogenic rs80338903 GRCh38 Chromosome 1, 216247095: 216247095
3 USH2A NM_206933.2(USH2A): c.1256G> T (p.Cys419Phe) single nucleotide variant Pathogenic rs121912600 GRCh37 Chromosome 1, 216497582: 216497582
4 USH2A NM_206933.2(USH2A): c.1256G> T (p.Cys419Phe) single nucleotide variant Pathogenic rs121912600 GRCh38 Chromosome 1, 216324240: 216324240
5 USH1C NM_005709.3(USH1C): c.238dupC (p.Arg80Profs) duplication Pathogenic rs397515359 GRCh37 Chromosome 11, 17552956: 17552956
6 USH1C NM_005709.3(USH1C): c.238dupC (p.Arg80Profs) duplication Pathogenic rs397515359 GRCh38 Chromosome 11, 17531409: 17531409
7 USH1C NM_005709.3(USH1C): c.216G> A (p.Val72=) single nucleotide variant Pathogenic rs151045328 GRCh37 Chromosome 11, 17552978: 17552978
8 USH1C NM_005709.3(USH1C): c.216G> A (p.Val72=) single nucleotide variant Pathogenic rs151045328 GRCh38 Chromosome 11, 17531431: 17531431
9 ADGRV1 NM_032119.3(ADGRV1): c.6901C> T (p.Gln2301Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121909762 GRCh37 Chromosome 5, 89986808: 89986808
10 ADGRV1 NM_032119.3(ADGRV1): c.6901C> T (p.Gln2301Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121909762 GRCh38 Chromosome 5, 90690991: 90690991
11 USH2A NM_206933.2(USH2A): c.7595-2144A> G single nucleotide variant Pathogenic/Likely pathogenic rs786200928 GRCh37 Chromosome 1, 216064540: 216064540
12 USH2A NM_206933.2(USH2A): c.7595-2144A> G single nucleotide variant Pathogenic/Likely pathogenic rs786200928 GRCh38 Chromosome 1, 215891198: 215891198
13 MYO7A NM_000260.3(MYO7A): c.2005C> T (p.Arg669Ter) single nucleotide variant Pathogenic/Likely pathogenic rs111033201 GRCh37 Chromosome 11, 76885871: 76885871
14 MYO7A NM_000260.3(MYO7A): c.2005C> T (p.Arg669Ter) single nucleotide variant Pathogenic/Likely pathogenic rs111033201 GRCh38 Chromosome 11, 77174825: 77174825
15 MYO7A NM_000260.3(MYO7A): c.3719G> A (p.Arg1240Gln) single nucleotide variant Pathogenic rs111033178 GRCh37 Chromosome 11, 76901153: 76901153
16 MYO7A NM_000260.3(MYO7A): c.3719G> A (p.Arg1240Gln) single nucleotide variant Pathogenic rs111033178 GRCh38 Chromosome 11, 77190108: 77190108
17 MYO7A NM_000260.3(MYO7A): c.3764delA (p.Lys1255Argfs) deletion Pathogenic/Likely pathogenic rs111033347 GRCh37 Chromosome 11, 76901755: 76901755
18 MYO7A NM_000260.3(MYO7A): c.3764delA (p.Lys1255Argfs) deletion Pathogenic/Likely pathogenic rs111033347 GRCh38 Chromosome 11, 77190710: 77190710
19 USH2A NM_206933.2(USH2A): c.10561T> C (p.Trp3521Arg) single nucleotide variant Pathogenic rs111033264 GRCh37 Chromosome 1, 215956104: 215956104
20 USH2A NM_206933.2(USH2A): c.10561T> C (p.Trp3521Arg) single nucleotide variant Pathogenic rs111033264 GRCh38 Chromosome 1, 215782762: 215782762
21 USH2A NM_206933.2(USH2A): c.920_923dupGCCA (p.His308Glnfs) duplication Pathogenic rs397518043 GRCh37 Chromosome 1, 216498867: 216498870
22 USH2A NM_206933.2(USH2A): c.920_923dupGCCA (p.His308Glnfs) duplication Pathogenic rs397518043 GRCh38 Chromosome 1, 216325525: 216325528
23 USH2A NM_206933.2(USH2A): c.6590C> T (p.Thr2197Ile) single nucleotide variant Uncertain significance rs140487302 GRCh37 Chromosome 1, 216172296: 216172296
24 USH2A NM_206933.2(USH2A): c.6590C> T (p.Thr2197Ile) single nucleotide variant Uncertain significance rs140487302 GRCh38 Chromosome 1, 215998954: 215998954
25 USH2A NM_206933.2(USH2A): c.3395G> A (p.Gly1132Asp) single nucleotide variant Benign rs34596189 GRCh37 Chromosome 1, 216373385: 216373385
26 USH2A NM_206933.2(USH2A): c.3395G> A (p.Gly1132Asp) single nucleotide variant Benign rs34596189 GRCh38 Chromosome 1, 216200043: 216200043
27 USH2A NM_206933.2(USH2A): c.7595-3C> G single nucleotide variant Likely pathogenic rs201657446 GRCh37 Chromosome 1, 216062399: 216062399
28 USH2A NM_206933.2(USH2A): c.7595-3C> G single nucleotide variant Likely pathogenic rs201657446 GRCh38 Chromosome 1, 215889057: 215889057
29 USH2A NM_206933.2(USH2A): c.3187_3188delCA (p.Gln1063Serfs) deletion Pathogenic rs886039450 GRCh37 Chromosome 1, 216380743: 216380744
30 USH2A NM_206933.2(USH2A): c.3187_3188delCA (p.Gln1063Serfs) deletion Pathogenic rs886039450 GRCh38 Chromosome 1, 216207401: 216207402
31 USH2A NM_206933.2(USH2A): c.2081G> A (p.Cys694Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs137954284 GRCh38 Chromosome 1, 216250989: 216250989
32 USH2A NM_206933.2(USH2A): c.2081G> A (p.Cys694Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs137954284 GRCh37 Chromosome 1, 216424331: 216424331
33 MYO7A NM_000260.3(MYO7A): c.3728C> T (p.Pro1243Leu) single nucleotide variant Likely pathogenic rs750358148 GRCh38 Chromosome 11, 77190117: 77190117
34 MYO7A NM_000260.3(MYO7A): c.3728C> T (p.Pro1243Leu) single nucleotide variant Likely pathogenic rs750358148 GRCh37 Chromosome 11, 76901162: 76901162
35 PCDH15 NM_033056.3(PCDH15): c.4462_4469dup (p.Glu1491Ilefs) duplication Likely pathogenic rs774056663 GRCh37 Chromosome 10, 55583017: 55583024
36 PCDH15 NM_033056.3(PCDH15): c.4462_4469dup (p.Glu1491Ilefs) duplication Likely pathogenic rs774056663 GRCh38 Chromosome 10, 53823257: 53823264
37 USH2A NM_206933.2(USH2A): c.15298-1176A> G single nucleotide variant Likely pathogenic rs144467375 GRCh37 Chromosome 1, 215803553: 215803553
38 USH2A NM_206933.2(USH2A): c.15298-1176A> G single nucleotide variant Likely pathogenic rs144467375 GRCh38 Chromosome 1, 215630211: 215630211
39 USH2A NM_206933.2(USH2A): c.14426C> T (p.Thr4809Ile) single nucleotide variant Uncertain significance rs770553471 GRCh37 Chromosome 1, 215822026: 215822026
40 USH2A NM_206933.2(USH2A): c.14426C> T (p.Thr4809Ile) single nucleotide variant Uncertain significance rs770553471 GRCh38 Chromosome 1, 215648684: 215648684
41 USH2A NM_206933.2(USH2A): c.13750dup (p.Thr4584Asnfs) duplication Likely pathogenic GRCh37 Chromosome 1, 215847503: 215847503
42 USH2A NM_206933.2(USH2A): c.13750dup (p.Thr4584Asnfs) duplication Likely pathogenic GRCh38 Chromosome 1, 215674161: 215674161
43 USH2A NM_206933.2(USH2A): c.12954C> A (p.Tyr4318Ter) single nucleotide variant Pathogenic rs762159022 GRCh37 Chromosome 1, 215848299: 215848299
44 USH2A NM_206933.2(USH2A): c.12954C> A (p.Tyr4318Ter) single nucleotide variant Pathogenic rs762159022 GRCh38 Chromosome 1, 215674957: 215674957
45 USH2A NM_206933.2(USH2A): c.12819T> A (p.Tyr4273Ter) single nucleotide variant Likely pathogenic GRCh37 Chromosome 1, 215848434: 215848434
46 USH2A NM_206933.2(USH2A): c.12819T> A (p.Tyr4273Ter) single nucleotide variant Likely pathogenic GRCh38 Chromosome 1, 215675092: 215675092
47 USH2A NM_206933.2(USH2A): c.12309delC (p.Phe4103Leufs) deletion Likely pathogenic GRCh37 Chromosome 1, 215848944: 215848944
48 USH2A NM_206933.2(USH2A): c.12309delC (p.Phe4103Leufs) deletion Likely pathogenic GRCh38 Chromosome 1, 215675602: 215675602
49 USH2A NM_206933.2(USH2A): c.11694delC (p.Asn3899Thrfs) deletion Likely pathogenic GRCh37 Chromosome 1, 215914734: 215914734
50 USH2A NM_206933.2(USH2A): c.11694delC (p.Asn3899Thrfs) deletion Likely pathogenic GRCh38 Chromosome 1, 215741392: 215741392

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 9.97 CEP78 CIB2 PDZD7 USH1C USH2A WHRN
2 ciliary basal body GO:0036064 9.7 CEP78 USH1G USH2A
3 photoreceptor outer segment GO:0001750 9.67 CIB2 MYO7A PCDH15 USH1C
4 microvillus GO:0005902 9.63 CLRN1 MYO7A USH1C
5 photoreceptor connecting cilium GO:0032391 9.63 MYO7A PDZD7 USH1C USH1G USH2A WHRN
6 stereocilia ankle link GO:0002141 9.62 PDZD7 USH1C USH2A WHRN
7 stereocilium tip GO:0032426 9.58 PDZD7 USH1C WHRN
8 stereocilia ankle link complex GO:0002142 9.56 PDZD7 USH1C USH2A WHRN
9 photoreceptor inner segment GO:0001917 9.5 CIB2 MYO7A PDZD7 USH1C USH1G USH2A
10 stereocilium bundle GO:0032421 9.48 PCDH15 USH2A
11 USH2 complex GO:1990696 9.43 PDZD7 USH2A
12 stereocilium GO:0032420 9.23 ADGRV1 CDH23 CIB2 MYO7A PCDH15 PDZD7
13 cytoplasm GO:0005737 10.36 ABHD12 ADGRV1 CEP78 CHML CIB2 EML1

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 9.96 ADGRV1 CDH23 CLRN1 MYO7A PCDH15 PDZD7
2 response to stimulus GO:0050896 9.93 ADGRV1 CDH23 CLRN1 OMP USH2A
3 visual perception GO:0007601 9.93 ADGRV1 CDH23 CLRN1 MYO7A PCDH15 USH2A
4 inner ear morphogenesis GO:0042472 9.83 MYO7A PDZD7 USH1C USH1G WHRN
5 sensory perception of light stimulus GO:0050953 9.81 ADGRV1 CDH23 CLRN1 MYO7A PCDH15 USH1C
6 inner ear receptor cell stereocilium organization GO:0060122 9.8 CDH23 MYO7A PCDH15 USH1C USH1G WHRN
7 inner ear auditory receptor cell differentiation GO:0042491 9.77 MYO7A PCDH15 PDZD7 USH1C WHRN
8 auditory receptor cell stereocilium organization GO:0060088 9.71 MYO7A PCDH15 PDZD7 WHRN
9 inner ear receptor cell development GO:0060119 9.67 PDZD7 USH1C WHRN
10 inner ear receptor cell differentiation GO:0060113 9.65 MYO7A USH1G USH2A
11 photoreceptor cell maintenance GO:0045494 9.56 ADGRV1 CDH23 CIB2 CLRN1 PCDH15 USH1C
12 adult walking behavior GO:0007628 9.55 ABHD12 PCDH15
13 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.52 PCDH15 PDZD7
14 maintenance of animal organ identity GO:0048496 9.51 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 9.35 ADGRV1 CDH23 CIB2 EML1 PCDH15
2 spectrin binding GO:0030507 8.8 MYO7A USH1C USH1G

Sources for Usher Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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