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MCID: USH001
MIFTS: 58

Usher Syndrome

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs
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Aliases & Classifications for Usher Syndrome

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MalaCards integrated aliases for Usher Syndrome:

Name: Usher Syndrome 12 77 54 26 60 38 30 56 6 44 15 39 41 74
Retinitis Pigmentosa-Deafness Syndrome 26 60
Deafness-Retinitis Pigmentosa Syndrome 54 26
Graefe-Usher Syndrome 54 26
Hallgren Syndrome 54 26
Usher's Syndrome 54 26
Dystrophia Retinae Pigmentosa-Dysostosis Syndrome 54
Usher Syndromes 45
Ush 60

Characteristics:

Orphanet epidemiological data:

60
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:

MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases
Anatomical: Eye diseases Ear diseases
See all MalaCards categories (disease lists)
ICD10: 35
Orphanet: 60  
Rare eye diseases
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Usher Syndrome

About this section
NIH Rare Diseases : 54 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 iia and usher syndrome, type ig, 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 cerebellum, and related phenotypes are sensorineural hearing impairment and abnormality of retinal pigmentation

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

Genetics Home Reference : 26 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 : 44 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 : 77 Usher syndrome, also known as Hallgren syndrome, Usher–Hallgren syndrome, retinitis pigmentosa–dysacusis... more...

Sources

Related Diseases for Usher Syndrome

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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 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 108)
# Related Disease Score Top Affiliating Genes
1 usher syndrome, type iia 34.6 PDZD7 USH1C USH2A WHRN
2 usher syndrome, type ig 34.5 CDH23 MYO7A PCDH15 USH1G
3 usher syndrome, type ic 34.5 CDH23 CLRN1 MYO7A USH1C USHBP1
4 usher syndrome, type if 34.5 CDH23 MYO7A PCDH15 USH1C USH1G
5 usher syndrome, type id 34.3 ADGRV1 CDH23 MYO7A PCDH15 USH1C USH1G
6 usher syndrome, type iid 34.0 ADGRV1 CDH23 MYO7A PCDH15 PDZD7 USH1C
7 usher syndrome, type iic 34.0 ADGRV1 CDH23 CLRN1 MYO7A PCDH15 PDZD7
8 usher syndrome, type iiia 33.8 ADGRV1 CDH23 CEP78 CLRN1 HARS MYO7A
9 usher syndrome, type i 33.8 ADGRV1 CDH23 CIB2 CLRN1 EML1 MYO7A
10 usher syndrome type 2 33.4 ADGRV1 CDH23 CIB2 CLRN1 HARS MYO7A
11 retinitis pigmentosa-deafness syndrome 33.4 ADGRV1 CDH23 MYO7A PCDH15 USH2A WHRN
12 deafness, autosomal recessive 12 30.9 CDH23 MYO7A PCDH15
13 deafness, autosomal recessive 23 30.7 CDH23 MYO7A PCDH15
14 retinitis pigmentosa 30.7 ABHD12 ADGRV1 CDH23 CEP78 CIB2 CLRN1
15 nonsyndromic retinitis pigmentosa 30.6 CLRN1 USH2A
16 sensorineural hearing loss 30.2 CDH23 CEP78 MYO7A PCDH15 USH2A WHRN
17 nonsyndromic deafness 30.1 ADGRV1 CDH23 CIB2 MYO7A PCDH15 PDZD7
18 bardet-biedl syndrome 30.1 CDH23 MYO7A PCDH15 USH1C
19 fundus dystrophy 29.8 ABHD12 MYO7A PROM1 USH2A
20 usher syndrome, type ij 12.6
21 usher syndrome, type iiib 12.6
22 usher syndrome, type iv 12.6
23 usher syndrome, type ik 12.6
24 usher syndrome, type ih 12.4
25 osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome 12.4
26 usher syndrome, type 2b 12.1
27 alstrom syndrome 11.7
28 pemphigus erythematosus 11.4
29 peroxisomal acyl-coa oxidase deficiency 11.0
30 mohr-tranebjaerg syndrome 11.0
31 neonatal adrenoleukodystrophy 11.0
32 polycystic kidney disease 10.6
33 leber congenital amaurosis 4 10.5
34 retinitis 10.5
35 dfnb1 10.4 MYO7A PCDH15
36 retinitis pigmentosa 61 10.4 CLRN1 CLRN1-AS1
37 deafness, autosomal recessive 6 10.4 ADGRV1 MYO7A USH2A
38 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
39 auditory system disease 10.3 CDH23 MYO7A PCDH15 USH1C
40 deafness, autosomal dominant 48 10.3 CIB2 MYO7A
41 perrault syndrome 10.3 CIB2 CLRN1 HARS
42 deafness, autosomal recessive 85 10.3 CDH23 MYO7A
43 branchiootic syndrome 1 10.3 CDH23 MYO7A USH1G USH2A WHRN
44 deafness, autosomal recessive 83 10.3 CDH23 MYO7A
45 deafness, autosomal recessive 10.2 CIB2 PCDH15 PDZD7 USH1C WHRN
46 pemphigus 10.2
47 retinal degeneration 10.2
48 autosomal recessive nonsyndromic deafness 3 10.1 CDH23 MYO7A
49 autosomal recessive non-syndromic sensorineural deafness type dfnb 10.1 CDH23 CIB2 MYO7A PCDH15 USH1C USH1G
50 uveitis 10.1

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



Diseases related to Usher Syndrome
Sources

Symptoms & Phenotypes for Usher Syndrome

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Human phenotypes related to Usher Syndrome:

60 33 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000407
2 abnormality of retinal pigmentation 60 33 hallmark (90%) Very frequent (99-80%) HP:0007703
3 blindness 60 33 hallmark (90%) Very frequent (99-80%) HP:0000618
4 progressive visual loss 60 33 hallmark (90%) Very frequent (99-80%) HP:0000529
5 abnormal electroretinogram 60 33 hallmark (90%) Very frequent (99-80%) HP:0000512
6 nyctalopia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000662
7 visual field defect 60 33 hallmark (90%) Very frequent (99-80%) HP:0001123
8 vestibular areflexia 60 33 hallmark (90%) Very frequent (99-80%) HP:0008568
9 ataxia 60 33 frequent (33%) Frequent (79-30%) HP:0001251
10 cataract 60 33 frequent (33%) Frequent (79-30%) HP:0000518
11 cognitive impairment 60 33 frequent (33%) Frequent (79-30%) HP:0100543
12 myopia 60 33 frequent (33%) Frequent (79-30%) HP:0000545
13 high hypermetropia 33 frequent (33%) HP:0008499
14 nystagmus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000639
15 depressivity 60 33 occasional (7.5%) Occasional (29-5%) HP:0000716
16 hallucinations 60 33 occasional (7.5%) Occasional (29-5%) HP:0000738
17 carious teeth 60 33 occasional (7.5%) Occasional (29-5%) HP:0000670
18 myopathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0003198
19 hypertrophic cardiomyopathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0001639
20 emg abnormality 60 33 occasional (7.5%) Occasional (29-5%) HP:0003457
21 microdontia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000691
22 anxiety 60 33 occasional (7.5%) Occasional (29-5%) HP:0000739
23 cerebral cortical atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0002120
24 aplasia/hypoplasia of the cerebellum 60 33 occasional (7.5%) Occasional (29-5%) HP:0007360
25 psychosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000709
26 decreased fertility 60 33 occasional (7.5%) Occasional (29-5%) HP:0000144
27 abnormality of dental enamel 60 33 occasional (7.5%) Occasional (29-5%) HP:0000682
28 hyperacusis 60 33 occasional (7.5%) Occasional (29-5%) HP:0010780
29 tinnitus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000360
30 astigmatism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000483
31 abnormality of dental color 60 33 occasional (7.5%) Occasional (29-5%) HP:0011073
32 abnormal cardiovascular system physiology 33 occasional (7.5%) HP:0011025
33 visual impairment 60 Very frequent (99-80%)
34 high-grade hypermetropia 60 Frequent (79-30%)
35 abnormality of cardiovascular system physiology 60 Occasional (29-5%)
36 vestibular dysfunction 60 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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.07 ABHD12 ADGRV1 ARSG CDH23 CIB2 CLRN1
2 hearing/vestibular/ear MP:0005377 9.97 ABHD12 ADGRV1 CDH23 CIB2 CLRN1 HARS
3 nervous system MP:0003631 9.83 ABHD12 ADGRV1 ARSG CDH23 CIB2 CLRN1
4 vision/eye MP:0005391 9.47 ABHD12 ADGRV1 CDH23 CIB2 CLRN1 EML1
Sources

Drugs & Therapeutics for Usher Syndrome

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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 16)
# Name Status NCT ID Phase Drugs
1 Study of SAR421869 in Patients With Retinitis Pigmentosa Associated With Usher Syndrome Type 1B Recruiting NCT01505062 Phase 1, Phase 2
2 Study to Evaluate Safety and Tolerability of QR-421a in Subjects With RP Due to Mutations in Exon 13 of the USH2A Gene Recruiting NCT03780257 Phase 1, Phase 2 QR-421a
3 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
4 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
5 Clinical and Genetic Examination of Usher Syndrome Patients' Cohort in Europe Unknown status NCT01954953
6 Natural History and Genetic Studies of Usher Syndrome Completed NCT00106743
7 A Genetic Analysis of Usher Syndrome in Ashkenazi Jews Completed NCT00016471
8 Study of Usher Syndromes, Type 1 and Type 2 Completed NCT00001347
9 Clinical and Genetic Testing of Patients With Usher Syndrome Completed NCT03319524
10 Molecular Genetics of Retinal Degenerations Completed NCT00231010
11 Natural History Study in Subjects With Usher Syndrome Recruiting NCT03814499
12 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940
13 Stem Cell Ophthalmology Treatment Study II Recruiting NCT03011541 Not Applicable
14 Rate of Progression in USH2A Related Retinal Degeneration Active, not recruiting NCT03146078
15 Prospective Open Clinical and Genetic Study of Patients With Retinitis Pigmentosa Enrolling by invitation NCT03901391
16 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

Sources

Genetic Tests for Usher Syndrome

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Genetic tests related to Usher Syndrome:

# Genetic test Affiliating Genes
1 Usher Syndrome 30
Sources

Anatomical Context for Usher Syndrome

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MalaCards organs/tissues related to Usher Syndrome:

42
Retina, Eye, Cerebellum, Testes, Brain, Kidney
Sources

Publications for Usher Syndrome

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Articles related to Usher Syndrome:

(show top 50) (show all 500)
# Title Authors Year
1
Usher syndrome in a patient with Ellis-van Creveld syndrome. ( 30991842 )
2019
2
Identification of four novel mutations in MYO7A gene and their association with nonsyndromic deafness and Usher Syndrome 1B. ( 30826590 )
2019
3
Whole exome sequencing identifies novel USH2A mutations and confirms Usher syndrome 2 diagnosis in Chinese retinitis pigmentosa patients. ( 30948794 )
2019
4
Genetics of Usher Syndrome: New Insights From a Meta-analysis. ( 30531642 )
2019
5
Gene Transfer with AAV9-PHP.B Rescues Hearing in a Mouse Model of Usher Syndrome 3A and Transduces Hair Cells in a Non-human Primate. ( 30581889 )
2019
6
Novel compound heterozygous CDH23 variants in a patient with Usher syndrome type I. ( 30774966 )
2019
7
Unanticipated prognosis for a patient with type 2 Usher syndrome. ( 30796641 )
2019
8
Usher syndrome and non-syndromic deafness: Functions of different whirlin isoforms in the cochlea, vestibular organs, and retina. ( 30831381 )
2019
9
Evidence for impaired olfactory function and structural brain integrity in a disorder of ciliary function, Usher syndrome. ( 30897432 )
2019
10
A novel ABHD12 nonsense variant in Usher syndrome type 3 family with genotype-phenotype spectrum review. ( 30974196 )
2019
11
Psychosocial determinants associated with quality of life in people with usher syndrome. A scoping review. ( 30974979 )
2019
12
Detecting novel mutations and combined Klinefelter syndrome in Usher syndrome cases. ( 31035849 )
2019
13
Novel Usher syndrome pathogenic variants identified in cases with hearing and vision loss. ( 31046701 )
2019
14
Severe retinal degeneration at an early age in Usher syndrome type 1B associated with homozygous splice site mutations in MYO7A gene. ( 29942180 )
2018
15
Visual Outcomes in Japanese Patients with Retinitis Pigmentosa and Usher Syndrome Caused by USH2A Mutations. ( 28678594 )
2018
16
Prevalence of macular abnormalities assessed by optical coherence tomography in patients with Usher syndrome. ( 28704163 )
2018
17
Antisense oligonucleotide therapy rescues disruptions in organization of exploratory movements associated with Usher syndrome type 1C in mice. ( 29037661 )
2018
18
Targeted next generation sequencing identified a novel mutation in MYO7A causing Usher syndrome type 1 in an Iranian consanguineous pedigree. ( 29287847 )
2018
19
Identification of two novel pathogenic compound heterozygous MYO7A mutations in Usher syndrome by whole exome sequencing. ( 29287864 )
2018
20
A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans. ( 29300381 )
2018
21
Identification of a novel MYO7A mutation in Usher syndrome type 1. ( 29416772 )
2018
22
The Genetics of Usher Syndrome in the Israeli and Palestinian Populations. ( 29490346 )
2018
23
SD-OCT imaging as a valuable tool to support molecular genetic diagnostics of Usher syndrome type 1. ( 29551606 )
2018
24
Utility of whole exome sequencing in the diagnosis of Usher syndrome: Report of novel compound heterozygous MYO7A mutations. ( 29605349 )
2018
25
Comprehensive Molecular Screening in Chinese Usher Syndrome Patients. ( 29625443 )
2018
26
Health, work, social trust, and financial situation in persons with Usher syndrome type 1. ( 29865098 )
2018
27
Identification of two novel compound heterozygous mutations of ADGRV1 in a Chinese family with Usher syndrome type IIC. ( 29883260 )
2018
28
A novel homozygous variant of GPR98 causes usher syndrome type IIC in a consanguineous Chinese family by next generation sequencing. ( 29890953 )
2018
29
A Natural Occurring Mouse Model with Adgrv1 Mutation of Usher Syndrome 2C and Characterization of its Recombinant Inbred Strains. ( 29961073 )
2018
30
Clarin-1 gene transfer rescues auditory synaptopathy in model of Usher syndrome. ( 29985171 )
2018
31
Usher Syndrome and Color Vision. ( 30012035 )
2018
32
Central Retina Functional Damage in Usher Syndrome Type 2: 22 Years of Focal Macular ERG Analysis in a Patient Population From Central and Southern Italy. ( 30073356 )
2018
33
Establishment of a human iPSC line, IISHDOi004-A, from a patient with Usher syndrome associated with the mutation c.2276G>T; p.Cys759Phe in the USH2A gene. ( 30096711 )
2018
34
Long-term visual outcomes and rehabilitation in Usher syndrome type II after retinal implant Argus II. ( 30134849 )
2018
35
Preferential Binding of Mg2+ Over Ca2+ to CIB2 Triggers an Allosteric Switch Impaired in Usher Syndrome Type 1J. ( 30174586 )
2018
36
Genetic screening of Russian Usher syndrome patients toward selection for gene therapy. ( 30358468 )
2018
37
Grxcr1 Promotes Hair Bundle Development by Destabilizing the Physical Interaction between Harmonin and Sans Usher Syndrome Proteins. ( 30380418 )
2018
38
Overcoming barriers to the involvement of deafblind people in conversations about research: recommendations from individuals with Usher syndrome. ( 30386632 )
2018
39
New compound heterozygous USH2A mutations in Usher syndrome. ( 30390381 )
2018
40
High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative. ( 30459346 )
2018
41
Generation of a human iPSC line, INMi002-A, carrying the most prevalent USH2A variant associated with Usher syndrome type 2. ( 30468996 )
2018
42
Ciliopathy: Usher Syndrome. ( 30578505 )
2018
43
A homozygous MYO7A mutation associated to Usher syndrome and unilateral auditory neuropathy spectrum disorder. ( 28731162 )
2017
44
Gene therapy approaches for prevention of retinal degeneration in Usher syndrome. ( 28054582 )
2017
45
The combination of vestibular impairment and congenital sensorineural hearing loss predisposes patients to ocular anomalies, including Usher syndrome. ( 27743452 )
2017
46
CEP78 is mutated in a distinct type of Usher syndrome. ( 27627988 )
2017
47
Hearing aid fitting for visual and hearing impaired patients with Usher syndrome type IIa. ( 27759911 )
2017
48
CLINICAL PRESENTATION AND DISEASE COURSE OF USHER SYNDROME BECAUSE OF MUTATIONS IN MYO7A OR USH2A. ( 27828912 )
2017
49
Psychosocial well-being and health-related quality of life in a UK population with Usher syndrome. ( 28082366 )
2017
50
Characterization of the ternary Usher syndrome SANS/ush2a/whirlin protein complex. ( 28137943 )
2017
Sources

Variations for Usher Syndrome

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ClinVar genetic disease variations for Usher Syndrome:

6 (show top 50) (show all 158)
# 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_007123.5(USH2A): c.4338_4339delCT (p.Cys1447Glnfs) deletion Pathogenic rs111033367 GRCh37 Chromosome 1, 216363622: 216363623
4 USH2A NM_007123.5(USH2A): c.4338_4339delCT (p.Cys1447Glnfs) deletion Pathogenic rs111033367 GRCh38 Chromosome 1, 216190280: 216190281
5 USH2A NM_206933.2(USH2A): c.2276G> T (p.Cys759Phe) single nucleotide variant Pathogenic/Likely pathogenic rs80338902 GRCh37 Chromosome 1, 216420460: 216420460
6 USH2A NM_206933.2(USH2A): c.2276G> T (p.Cys759Phe) single nucleotide variant Pathogenic/Likely pathogenic rs80338902 GRCh38 Chromosome 1, 216247118: 216247118
7 USH2A NM_206933.2(USH2A): c.1256G> T (p.Cys419Phe) single nucleotide variant Pathogenic rs121912600 GRCh37 Chromosome 1, 216497582: 216497582
8 USH2A NM_206933.2(USH2A): c.1256G> T (p.Cys419Phe) single nucleotide variant Pathogenic rs121912600 GRCh38 Chromosome 1, 216324240: 216324240
9 USH1C NM_005709.3(USH1C): c.238dupC (p.Arg80Profs) duplication Pathogenic rs397515359 GRCh37 Chromosome 11, 17552956: 17552956
10 USH1C NM_005709.3(USH1C): c.238dupC (p.Arg80Profs) duplication Pathogenic rs397515359 GRCh38 Chromosome 11, 17531409: 17531409
11 USH1C NM_005709.3(USH1C): c.216G> A (p.Val72=) single nucleotide variant Pathogenic/Likely pathogenic rs151045328 GRCh37 Chromosome 11, 17552978: 17552978
12 USH1C NM_005709.3(USH1C): c.216G> A (p.Val72=) single nucleotide variant Pathogenic/Likely pathogenic rs151045328 GRCh38 Chromosome 11, 17531431: 17531431
13 ADGRV1 NM_032119.3(ADGRV1): c.6901C> T (p.Gln2301Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121909762 GRCh37 Chromosome 5, 89986808: 89986808
14 ADGRV1 NM_032119.3(ADGRV1): c.6901C> T (p.Gln2301Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121909762 GRCh38 Chromosome 5, 90690991: 90690991
15 MYO7A NM_000260.4(MYO7A): c.905G> A (p.Arg302His) single nucleotide variant Likely benign rs41298135 GRCh37 Chromosome 11, 76869378: 76869378
16 MYO7A NM_000260.4(MYO7A): c.905G> A (p.Arg302His) single nucleotide variant Likely benign rs41298135 GRCh38 Chromosome 11, 77158332: 77158332
17 USH2A NM_206933.2(USH2A): c.7595-2144A> G single nucleotide variant Pathogenic rs786200928 GRCh37 Chromosome 1, 216064540: 216064540
18 USH2A NM_206933.2(USH2A): c.7595-2144A> G single nucleotide variant Pathogenic rs786200928 GRCh38 Chromosome 1, 215891198: 215891198
19 MYO7A NM_000260.3(MYO7A): c.2005C> T (p.Arg669Ter) single nucleotide variant Pathogenic/Likely pathogenic rs111033201 GRCh37 Chromosome 11, 76885871: 76885871
20 MYO7A NM_000260.3(MYO7A): c.2005C> T (p.Arg669Ter) single nucleotide variant Pathogenic/Likely pathogenic rs111033201 GRCh38 Chromosome 11, 77174825: 77174825
21 MYO7A NM_000260.3(MYO7A): c.3719G> A (p.Arg1240Gln) single nucleotide variant Pathogenic/Likely pathogenic rs111033178 GRCh37 Chromosome 11, 76901153: 76901153
22 MYO7A NM_000260.3(MYO7A): c.3719G> A (p.Arg1240Gln) single nucleotide variant Pathogenic/Likely pathogenic rs111033178 GRCh38 Chromosome 11, 77190108: 77190108
23 MYO7A NM_000260.3(MYO7A): c.3764delA (p.Lys1255Argfs) deletion Pathogenic/Likely pathogenic rs111033347 GRCh37 Chromosome 11, 76901755: 76901755
24 MYO7A NM_000260.3(MYO7A): c.3764delA (p.Lys1255Argfs) deletion Pathogenic/Likely pathogenic rs111033347 GRCh38 Chromosome 11, 77190710: 77190710
25 CDH23 NM_022124.5(CDH23): c.6614C> T (p.Pro2205Leu) single nucleotide variant Uncertain significance rs397517349 GRCh37 Chromosome 10, 73553299: 73553299
26 CDH23 NM_022124.5(CDH23): c.6614C> T (p.Pro2205Leu) single nucleotide variant Uncertain significance rs397517349 GRCh38 Chromosome 10, 71793542: 71793542
27 ADGRV1 NM_032119.3(ADGRV1): c.3443G> A (p.Gly1148Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs200945405 GRCh37 Chromosome 5, 89948189: 89948189
28 ADGRV1 NM_032119.3(ADGRV1): c.3443G> A (p.Gly1148Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs200945405 GRCh38 Chromosome 5, 90652372: 90652372
29 ADGRV1 NM_032119.3(ADGRV1): c.746G> A (p.Arg249Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs41303344 GRCh37 Chromosome 5, 89923101: 89923101
30 ADGRV1 NM_032119.3(ADGRV1): c.746G> A (p.Arg249Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs41303344 GRCh38 Chromosome 5, 90627284: 90627284
31 USH2A NM_206933.3(USH2A): c.1036A> C (p.Asn346His) single nucleotide variant Pathogenic rs369522997 GRCh37 Chromosome 1, 216498754: 216498754
32 USH2A NM_206933.3(USH2A): c.1036A> C (p.Asn346His) single nucleotide variant Pathogenic rs369522997 GRCh38 Chromosome 1, 216325412: 216325412
33 USH2A NM_206933.2(USH2A): c.10561T> C (p.Trp3521Arg) single nucleotide variant Pathogenic/Likely pathogenic rs111033264 GRCh37 Chromosome 1, 215956104: 215956104
34 USH2A NM_206933.2(USH2A): c.10561T> C (p.Trp3521Arg) single nucleotide variant Pathogenic/Likely pathogenic rs111033264 GRCh38 Chromosome 1, 215782762: 215782762
35 USH2A NM_206933.3(USH2A): c.15297+3A> G single nucleotide variant Benign rs57754754 GRCh37 Chromosome 1, 215807798: 215807798
36 USH2A NM_206933.3(USH2A): c.15297+3A> G single nucleotide variant Benign rs57754754 GRCh38 Chromosome 1, 215634456: 215634456
37 USH2A NM_206933.3(USH2A): c.15562A> G (p.Ser5188Gly) single nucleotide variant Benign rs58257972 GRCh37 Chromosome 1, 215799170: 215799170
38 USH2A NM_206933.3(USH2A): c.15562A> G (p.Ser5188Gly) single nucleotide variant Benign rs58257972 GRCh38 Chromosome 1, 215625828: 215625828
39 USH2A NM_206933.2(USH2A): c.3158-6A> G single nucleotide variant Uncertain significance rs397518010 GRCh37 Chromosome 1, 216380779: 216380779
40 USH2A NM_206933.2(USH2A): c.3158-6A> G single nucleotide variant Uncertain significance rs397518010 GRCh38 Chromosome 1, 216207437: 216207437
41 USH2A NM_206933.3(USH2A): c.5581G> A (p.Gly1861Ser) single nucleotide variant Pathogenic rs375668376 GRCh37 Chromosome 1, 216246634: 216246634
42 USH2A NM_206933.3(USH2A): c.5581G> A (p.Gly1861Ser) single nucleotide variant Pathogenic rs375668376 GRCh38 Chromosome 1, 216073292: 216073292
43 USH2A NM_206933.3(USH2A): c.8559-2A> G single nucleotide variant Pathogenic rs397518039 GRCh37 Chromosome 1, 216051224: 216051224
44 USH2A NM_206933.3(USH2A): c.8559-2A> G single nucleotide variant Pathogenic rs397518039 GRCh38 Chromosome 1, 215877882: 215877882
45 USH2A NM_206933.2(USH2A): c.920_923dupGCCA (p.His308Glnfs) duplication Pathogenic rs397518043 GRCh37 Chromosome 1, 216498867: 216498870
46 USH2A NM_206933.2(USH2A): c.920_923dupGCCA (p.His308Glnfs) duplication Pathogenic rs397518043 GRCh38 Chromosome 1, 216325525: 216325528
47 USH2A NM_206933.3(USH2A): c.4510dup (p.Arg1504Lysfs) duplication Pathogenic rs727503731 GRCh37 Chromosome 1, 216348711: 216348711
48 USH2A NM_206933.3(USH2A): c.4510dup (p.Arg1504Lysfs) duplication Pathogenic rs727503731 GRCh38 Chromosome 1, 216175369: 216175369
49 USH2A NM_206933.3(USH2A): c.5039A> G (p.Lys1680Arg) single nucleotide variant Uncertain significance rs150982499 GRCh37 Chromosome 1, 216258168: 216258168
50 USH2A NM_206933.3(USH2A): c.5039A> G (p.Lys1680Arg) single nucleotide variant Uncertain significance rs150982499 GRCh38 Chromosome 1, 216084826: 216084826

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
Sources

Expression for Usher Syndrome

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Search GEO for disease gene expression data for Usher Syndrome.
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Pathways for Usher Syndrome

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GO Terms for Usher Syndrome

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 cilium GO:0005929 9.91 CEP78 CIB2 PDZD7 PROM1 WHRN
2 ciliary basal body GO:0036064 9.78 CEP78 USH1G USH2A WHRN
3 photoreceptor outer segment GO:0001750 9.77 CIB2 MYO7A PCDH15 PROM1 USH1C
4 microvillus GO:0005902 9.73 CLRN1 MYO7A PROM1 USH1C
5 stereocilium tip GO:0032426 9.63 PDZD7 USH1C WHRN
6 photoreceptor connecting cilium GO:0032391 9.63 MYO7A PDZD7 USH1C USH1G USH2A WHRN
7 stereocilia ankle link GO:0002141 9.62 PDZD7 USH1C USH2A WHRN
8 USH2 complex GO:1990696 9.58 PDZD7 USH2A WHRN
9 stereocilia ankle link complex GO:0002142 9.56 PDZD7 USH1C USH2A WHRN
10 stereocilium bundle GO:0032421 9.54 USH2A WHRN
11 periciliary membrane compartment GO:1990075 9.52 USH2A WHRN
12 photoreceptor inner segment GO:0001917 9.5 CIB2 MYO7A PDZD7 USH1C USH1G USH2A
13 stereocilium GO:0032420 9.28 ADGRV1 CDH23 CIB2 CLRN1 MYO7A PCDH15
14 cytoplasm GO:0005737 10.37 ABHD12 ADGRV1 CEP78 CHML CIB2 EML1
15 plasma membrane GO:0005886 10.33 ABHD12 ADGRV1 CDH23 CIB2 CLRN1 PCDH15
16 cell projection GO:0042995 10.04 CEP78 CIB2 PDZD7 PROM1 USH1C USH2A

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 visual perception GO:0007601 9.88 ADGRV1 CDH23 CLRN1 MYO7A PCDH15 USH2A
3 photoreceptor cell maintenance GO:0045494 9.81 ADGRV1 CDH23 CIB2 CLRN1 PCDH15 PROM1
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 sensory perception of light stimulus GO:0050953 9.61 ADGRV1 CDH23 CLRN1 MYO7A 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

Sources for Usher Syndrome

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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