MCID: USH001
MIFTS: 54

Usher Syndrome

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

Aliases & Classifications for Usher Syndrome

MalaCards integrated aliases for Usher Syndrome:

Name: Usher Syndrome 12 72 50 24 25 56 52 41 14 38 69
Retinitis Pigmentosa-Deafness Syndrome 25 56
Deafness-Retinitis Pigmentosa Syndrome 50 25
Graefe-Usher Syndrome 50 25
Hallgren Syndrome 50 25
Usher's Syndrome 50 25
Dystrophia Retinae Pigmentosa-Dysostosis Syndrome 50
Usher Syndromes 42
Ush 56

Characteristics:

Orphanet epidemiological data:

56
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 : 50 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 2a and usher syndrome type 1h, and has symptoms including progressive visual loss, nystagmus and ataxia. 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 behavior/neurological and hearing/vestibular/ear

MedlinePlus : 41 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

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.

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

Wikipedia : 72 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 2a Usher Syndrome, Type 3a
Usher Syndrome, Type 2c Usher Syndrome Type 3b
Usher Syndrome, Type 2d Usher Syndrome, Type Ik
Usher Syndrome, Type 1d Usher Syndrome, Type 1f
Usher Syndrome, Type 1c Usher Syndrome, Type 1b
Usher Syndrome, Type Ij Usher Syndrome, Type 1g
Usher Syndrome Type 2 Usher Syndrome Type 1h
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)
id Related Disease Score Top Affiliating Genes
1 usher syndrome, type 2a 34.4 PDZD7 USH1C USH2A WHRN
2 usher syndrome type 1h 32.0 ADGRV1 CDH23 CIB2 CLRN1 HARS MYO7A
3 usher syndrome, type 1b 12.4
4 usher syndrome, type 3a 12.4
5 usher syndrome, type 1d 12.4
6 usher syndrome, type 1c 12.4
7 usher syndrome, type 1f 12.3
8 usher syndrome, type 1g 12.3
9 usher syndrome, type 2c 12.3
10 usher syndrome, type 2d 12.2
11 usher syndrome, type ij 12.2
12 usher syndrome type 3b 12.2
13 usher syndrome type 2 12.2
14 usher syndrome, type ik 12.1
15 osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome 12.0
16 usher syndrome, type 2b 11.7
17 pemphigus erythematosus 11.5
18 retinitis pigmentosa 11.2
19 alstrom syndrome 10.8
20 retinitis pigmentosa-deafness syndrome 10.7
21 peroxisomal acyl-coa oxidase deficiency 10.7
22 mohr-tranebjaerg syndrome 10.7
23 hyperphenylalaninemia, mild, non-bh4-deficient 10.7 CDH23 MYO7A PCDH15
24 otof-related deafness 10.7 CLRN1 USH2A
25 robinow syndrome, autosomal dominant 1 10.7 ADGRV1 MYO7A USH2A
26 diabetes persistent mullerian ducts 10.6 MYO7A PCDH15
27 narcissistic personality disorder 10.6 CDH23 MYO7A PCDH15
28 corneal dystrophy, posterior polymorphous, 3 10.6 PCDH15 USH1K
29 deafness, autosomal recessive 23 10.6 MYO7A PCDH15 USH1C USH1G
30 osteopoikilosis and dacryocystitis 10.6 CLRN1 USH2A
31 pituitary adenoma 10.6 CDH23 MYO7A PCDH15 USH1C
32 fundus albipunctatus 10.5 CIB2 MYO7A
33 hereditary breast ovarian cancer 10.5 MYO7A PCDH15 USH1C USH2A
34 colorectal adenocarcinoma 10.5 CIB2 CLRN1 HARS
35 bifid nose with or without anorectal and renal anomalies 10.5 CDH23 MYO7A
36 amelogenesis imperfecta, type ig 10.5 CDH23 MYO7A PCDH15 USH1C USH1G
37 endometritis 10.4 CDH23 CEP78 MYO7A USH2A
38 retinitis 10.4
39 deafness, autosomal recessive 18a 10.4 CDH23 MYO7A USH1C USH1G USHBP1
40 trichomoniasis 10.4 CDH23 MYO7A PCDH15 USH1C USH2A
41 ectodermal dysplasia 6, hair/nail type 10.3 CDH23 MYO7A
42 polycystic kidney disease 10.2
43 discrete papular lichen myxedematosus 10.2 CDH23 CIB2 MYO7A PCDH15 USH1C WHRN
44 deafness, autosomal recessive 12 10.2 ADGRV1 CDH23 MYO7A PCDH15 USH1C USH1G
45 pemphigus 10.0
46 nonsyndromic deafness 9.9
47 retinal disease 9.9
48 retinal degeneration 9.9
49 uveitis 9.9
50 choroideremia 9.9

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:

56 32 (show all 35)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 progressive visual loss 56 32 hallmark (90%) Very frequent (99-80%) HP:0000529
2 nystagmus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000639
3 ataxia 56 32 frequent (33%) Frequent (79-30%) HP:0001251
4 myopia 56 32 frequent (33%) Frequent (79-30%) HP:0000545
5 cognitive impairment 56 32 frequent (33%) Frequent (79-30%) HP:0100543
6 hypertrophic cardiomyopathy 56 32 occasional (7.5%) Occasional (29-5%) HP:0001639
7 depression 56 32 occasional (7.5%) Occasional (29-5%) HP:0000716
8 hallucinations 56 32 occasional (7.5%) Occasional (29-5%) HP:0000738
9 blindness 56 32 hallmark (90%) Very frequent (99-80%) HP:0000618
10 cataract 56 32 frequent (33%) Frequent (79-30%) HP:0000518
11 myopathy 56 32 occasional (7.5%) Occasional (29-5%) HP:0003198
12 cerebral cortical atrophy 56 32 occasional (7.5%) Occasional (29-5%) HP:0002120
13 psychosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000709
14 astigmatism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000483
15 tinnitus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000360
16 microdontia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000691
17 sensorineural hearing impairment 56 32 hallmark (90%) Very frequent (99-80%) HP:0000407
18 anxiety 56 32 occasional (7.5%) Occasional (29-5%) HP:0000739
19 visual field defect 56 32 hallmark (90%) Very frequent (99-80%) HP:0001123
20 hyperacusis 56 32 occasional (7.5%) Occasional (29-5%) HP:0010780
21 vestibular areflexia 56 32 hallmark (90%) Very frequent (99-80%) HP:0008568
22 decreased fertility 56 32 occasional (7.5%) Occasional (29-5%) HP:0000144
23 abnormal electroretinogram 56 32 hallmark (90%) Very frequent (99-80%) HP:0000512
24 carious teeth 56 32 occasional (7.5%) Occasional (29-5%) HP:0000670
25 abnormality of retinal pigmentation 56 32 hallmark (90%) Very frequent (99-80%) HP:0007703
26 emg abnormality 56 32 occasional (7.5%) Occasional (29-5%) HP:0003457
27 aplasia/hypoplasia of the cerebellum 56 32 occasional (7.5%) Occasional (29-5%) HP:0007360
28 abnormality of dental enamel 56 32 occasional (7.5%) Occasional (29-5%) HP:0000682
29 high-grade hypermetropia 56 32 frequent (33%) Frequent (79-30%) HP:0008499
30 abnormality of cardiovascular system physiology 56 32 occasional (7.5%) Occasional (29-5%) HP:0011025
31 abnormality of dental color 56 32 occasional (7.5%) Occasional (29-5%) HP:0011073
32 visual impairment 56 Very frequent (99-80%)
33 nyctalopia 32 hallmark (90%) HP:0000662
34 night blindness 56 Very frequent (99-80%)
35 vestibular dysfunction 56 Very frequent (99-80%)

UMLS symptoms related to Usher Syndrome:


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

MGI Mouse Phenotypes related to Usher Syndrome:

44
id 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 MYO7A PCDH15 PDZD7 USH1C USH1G USH2A
3 nervous system MP:0003631 9.77 USH1G USH2A WHRN ABHD12 ADGRV1 CDH23
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):


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

Interventional clinical trials:

(show all 12)

id 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 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:

id Genetic test Affiliating Genes
1 Usher Syndrome 24

Anatomical Context for Usher Syndrome

MalaCards organs/tissues related to Usher Syndrome:

39
Retina, Eye, Cerebellum, Bone, Testes

Publications for Usher Syndrome

Articles related to Usher Syndrome:

(show top 50) (show all 451)
id Title Authors Year
1
A novel mutation in the MYO7A gene is associated with Usher syndrome type 1 in a Chinese family. ( 28688563 )
2017
2
Rescue of peripheral vestibular function in Usher syndrome mice using a splice-switching antisense oligonucleotide. ( 28633508 )
2017
3
Characterization of the ternary Usher syndrome SANS/ush2a/whirlin protein complex. ( 28137943 )
2017
4
A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula. ( 28469144 )
2017
5
A homozygous MYO7A mutation associated to Usher syndrome and unilateral auditory neuropathy spectrum disorder. ( 28731162 )
2017
6
Usher syndrome type 1-associated cadherins shape the photoreceptor outer segment. ( 28495838 )
2017
7
Gene Therapy Restores Balance and Auditory Functions in a Mouse Model of Usher Syndrome. ( 28254438 )
2017
8
Usher syndrome and late-onset psychosis. ( 28541731 )
2017
9
Visual Outcomes in Japanese Patients with Retinitis Pigmentosa and Usher Syndrome Caused by USH2A Mutations. ( 28678594 )
2017
10
Outcomes of Late Implantation in Usher Syndrome Patients. ( 28382120 )
2017
11
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
12
Prevalence of macular abnormalities assessed by optical coherence tomography in patients with Usher syndrome. ( 28704163 )
2017
13
The Usher Syndrome Type IIIB Histidyl-tRNA Synthetase Mutation Confers Temperature Sensitivity. ( 28632987 )
2017
14
Local gene therapy durably restores vestibular function in a mouse model of Usher syndrome type 1G. ( 28835534 )
2017
15
Cochlear Implantation in Patients With Usher Syndrome Type IIa Increases Performance and Quality of Life. ( 28498263 )
2017
16
Gene therapy approaches for prevention of retinal degeneration in Usher syndrome. ( 28054582 )
2017
17
Psychosocial well-being and health-related quality of life in a UK population with Usher syndrome. ( 28082366 )
2017
18
Gene therapy restores auditory and vestibular function in a mouse model of Usher syndrome type 1c. ( 28165476 )
2017
19
A small molecule mitigates hearing loss in a mouse model of Usher syndrome III. ( 27110679 )
2016
20
CEP78 is mutated in a distinct type of Usher syndrome. ( 27627988 )
2016
21
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
22
The E3 ligase Ubr3 regulates Usher syndrome and MYH9 disorder proteins in the auditory organs of Drosophila and mammals. ( 27331610 )
2016
23
Impairment of Vision in a Mouse Model of Usher Syndrome Type III. ( 26943149 )
2016
24
Compound heterozygous MYO7A mutations segregating Usher syndrome type 2 in a Han family. ( 27729122 )
2016
25
An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients. ( 27460420 )
2016
26
A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa. ( 27318125 )
2016
27
Genetic analysis of Tunisian families with Usher syndrome type 1: toward improving early molecular diagnosis. ( 27440999 )
2016
28
Assessing Photoreceptor Structure in Retinitis Pigmentosa and Usher Syndrome. ( 27145477 )
2016
29
Diversity of the Genes Implicated in Algerian Patients Affected by Usher Syndrome. ( 27583663 )
2016
30
Frequency of Usher syndrome type 1 in deaf children by massively parallel DNA sequencing. ( 26791358 )
2016
31
The Time Course of Deafness and Retinal Degeneration in a Kunming Mouse Model for Usher Syndrome. ( 27186975 )
2016
32
CLINICAL PRESENTATION AND DISEASE COURSE OF USHER SYNDROME BECAUSE OF MUTATIONS IN MYO7A OR USH2A. ( 27828912 )
2016
33
The combination of vestibular impairment and congenital sensorineural hearing loss predisposes patients to ocular anomalies, including Usher syndrome. ( 27743452 )
2016
34
Outer Retinal Changes Including the Ellipsoid Zone Band in Usher Syndrome 1B due to MYO7A Mutations. ( 27409480 )
2016
35
Hearing aid fitting for visual and hearing impaired patients with Usher Syndrome type IIa. ( 27759911 )
2016
36
Usher syndrome in Denmark: mutation spectrum and some clinical observations. ( 27957503 )
2016
37
Impact of the Usher syndrome on olfaction. ( 26620972 )
2016
38
Novel grading system for quantification of cystic macular lesions in Usher syndrome. ( 26654877 )
2015
39
Usher syndrome: Hearing loss, retinal degeneration and associated abnormalities. ( 25481835 )
2015
40
MACULAR COLOBOMA IN A CHILD WITH USHER SYNDROME. ( 26411142 )
2015
41
[Identification of novel compound heterozygous mutations of USH2A gene in a family with Usher syndrome type II]. ( 26037342 )
2015
42
Whole exome sequencing identifies mutations in usher syndrome genes in profoundly deaf tunisian patients. ( 25798947 )
2015
43
Cone responses in Usher syndrome types 1 and 2 by microvolt electroretinography. ( 25425308 )
2015
44
Correction: Novel Compound Heterozygous Mutations in MYO7A Associated with Usher Syndrome 1 in a Chinese Family. ( 26425852 )
2015
45
Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients. ( 26338283 )
2015
46
Gene Therapy for the Retinal Degeneration of Usher Syndrome Caused by Mutations in MYO7A. ( 25605753 )
2015
47
Phenotype of Usher syndrome type II assosiated with compound missense mutations of c.721 C>T and c.1969 C>T in MYO7A in a Chinese Usher syndrome family. ( 26309859 )
2015
48
Choroidal Thickness Analysis in Patients with Usher Syndrome Type 2 Using EDI OCT. ( 26075083 )
2015
49
Simultaneous bilateral cochlear implantation in a five-month-old child with Usher syndrome. ( 26177750 )
2015
50
Duane retraction syndrome type 1 with Usher syndrome type 2: an unreported association. ( 25955520 )
2015

Variations for Usher Syndrome

ClinVar genetic disease variations for Usher Syndrome:

6 (show all 49)
id Gene Variation Type Significance SNP ID Assembly Location
1 USH2A NM_206933.2(USH2A): c.2299delG (p.Glu767Serfs) deletion Pathogenic rs80338903 GRCh37 Chromosome 1, 216420437: 216420437
2 USH2A NM_206933.2(USH2A): c.1256G> T (p.Cys419Phe) single nucleotide variant Pathogenic/Likely pathogenic rs121912600 GRCh37 Chromosome 1, 216497582: 216497582
3 USH1C NM_005709.3(USH1C): c.238dupC (p.Arg80Profs) duplication Pathogenic rs397515359 GRCh37 Chromosome 11, 17552956: 17552956
4 USH1C NM_005709.3(USH1C): c.216G> A (p.Val72=) single nucleotide variant Pathogenic/Likely pathogenic rs151045328 GRCh37 Chromosome 11, 17552978: 17552978
5 ADGRV1 NM_032119.3(ADGRV1): c.6901C> T (p.Gln2301Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121909762 GRCh37 Chromosome 5, 89986808: 89986808
6 MT-TS2 m.12258C> A single nucleotide variant Pathogenic rs118203888 GRCh37 Chromosome MT, 12258: 12258
7 USH2A NM_206933.2(USH2A): c.7595-2144A> G single nucleotide variant Pathogenic/Likely pathogenic rs786200928 GRCh37 Chromosome 1, 216064540: 216064540
8 MYO7A NM_000260.3(MYO7A): c.2005C> T (p.Arg669Ter) single nucleotide variant Pathogenic/Likely pathogenic rs111033201 GRCh37 Chromosome 11, 76885871: 76885871
9 MYO7A NM_000260.3(MYO7A): c.3719G> A (p.Arg1240Gln) single nucleotide variant Pathogenic/Likely pathogenic rs111033178 GRCh37 Chromosome 11, 76901153: 76901153
10 MYO7A NM_000260.3(MYO7A): c.3764delA (p.Lys1255Argfs) deletion Pathogenic/Likely pathogenic rs111033347 GRCh37 Chromosome 11, 76901755: 76901755
11 USH2A NM_206933.2(USH2A): c.10561T> C (p.Trp3521Arg) single nucleotide variant Pathogenic/Likely pathogenic rs111033264 GRCh37 Chromosome 1, 215956104: 215956104
12 USH2A NM_206933.2(USH2A): c.920_923dupGCCA (p.His308Glnfs) duplication Pathogenic rs397518043 GRCh37 Chromosome 1, 216498867: 216498870
13 USH2A NM_206933.2(USH2A): c.7595-3C> G single nucleotide variant Likely pathogenic rs201657446 GRCh37 Chromosome 1, 216062399: 216062399
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
id 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)
id Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.91 CIB2 PDZD7 USH1C USH2A WHRN
2 ciliary basal body GO:0036064 9.76 CEP78 USH1G USH2A WHRN
3 photoreceptor outer segment GO:0001750 9.71 CIB2 MYO7A PCDH15 USH1C
4 cilium GO:0005929 9.7 CIB2 PDZD7 WHRN
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 9.17 ADGRV1 CDH23 CIB2 MYO7A PCDH15 USH1C

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

(show all 14)
id 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 stereocilium organization GO:0060122 9.8 CDH23 MYO7A PCDH15 USH1C USH1G WHRN
5 inner ear morphogenesis GO:0042472 9.69 MYO7A USH1C USH1G
6 auditory receptor cell stereocilium organization GO:0060088 9.67 MYO7A PCDH15 PDZD7 WHRN
7 establishment of protein localization GO:0045184 9.65 PDZD7 USH2A WHRN
8 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 9.54 ABHD12 PCDH15
12 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.52 PCDH15 PDZD7
13 maintenance of animal organ identity GO:0048496 9.49 ADGRV1 USH2A
14 equilibrioception GO:0050957 9.1 CDH23 CLRN1 MYO7A PCDH15 USH1C USH1G

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

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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