USH
MCID: USH001
MIFTS: 53

Usher Syndrome (USH) malady

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

Aliases & Classifications for Usher Syndrome

Aliases & Descriptions for Usher Syndrome:

Name: Usher Syndrome 12 71 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:



External Ids:

Disease Ontology 12 DOID:0050439
MeSH 42 D052245
NCIt 47 C85217
SNOMED-CT 64 57838006 73119000
Orphanet 56 ORPHA886
UMLS via Orphanet 70 C0271097
MESH via Orphanet 43 D052245
ICD10 via Orphanet 34 H35.5

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 1f and usher syndrome, type 1b, and has symptoms including ataxia, hyperacusis and nystagmus. An important gene associated with Usher Syndrome is MT-TS2 (Mitochondrially Encoded TRNA Serine 2 (AGU/C)). 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 : 71 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 88)
id Related Disease Score Top Affiliating Genes
1 usher syndrome, type 1f 33.1 ADGRV1 CDH23 MYO7A PCDH15 USH1C USH1G
2 usher syndrome, type 1b 12.5
3 usher syndrome, type 3a 12.4
4 usher syndrome, type 2a 12.4
5 usher syndrome, type 1d 12.4
6 usher syndrome, type 1c 12.4
7 usher syndrome, type 1g 12.3
8 usher syndrome, type 2c 12.3
9 usher syndrome, type 2d 12.2
10 usher syndrome, type ij 12.2
11 usher syndrome type 3b 12.2
12 usher syndrome type 2 12.2
13 usher syndrome, type ik 12.2
14 usher syndrome type 1h 12.0
15 osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome 12.0
16 usher syndrome, type 2b 11.7
17 pemphigus erythematosus 11.5
18 retinitis pigmentosa-deafness syndrome 11.3
19 retinitis pigmentosa 11.2
20 alstrom syndrome 10.8
21 retinitis 10.4
22 pnpla6-related disorders 10.2 CLRN1 USH2A
23 polycystic kidney disease 10.2
24 manitoba oculotrichoanal syndrome 10.2 CDH23 MYO7A
25 sjogren-larsson syndrome 10.2 CDH23 MYO7A
26 fibrochondrogenesis 2 10.2 MYO7A USH2A
27 46xy partial gonadal dysgenesis, with minifascicular neuropathy 10.2 CIB2 MYO7A
28 die smulders droog van dijk syndrome 10.2 MYO7A PCDH15
29 autosomal dominant nonsyndromic deafness 68 10.2 USH1C USH1G
30 charcot-marie-tooth disease, type 1d 10.2 CDH23 MYO7A PCDH15
31 robinow syndrome, autosomal dominant 1 10.1 ADGRV1 MYO7A USH2A
32 autosomal dominant nonsyndromic deafness 69 10.1 CDH23 MYO7A
33 obesity susceptibility, adrb3-related 10.1 CDH23 MYO7A USH1C USH2A
34 cardiomyopathy, dilated, 1kk 10.1 MYO7A PCDH15 USH1C USH1G
35 deafness, autosomal recessive 23 10.0 CDH23 MYO7A PCDH15 USH1C
36 autosomal recessive nonsyndromic deafness 97 10.0 CDH23 MYO7A
37 narcissistic personality disorder 10.0 CDH23 MYO7A PCDH15 USH1C
38 pemphigus 10.0
39 adult liposarcoma 10.0 MYO7A PCDH15 PDZD7 USH2A
40 pierre robin syndrome 10.0 CDH23 MYO7A PCDH15 USH1C USH1G
41 retinitis pigmentosa 39 10.0 PDZD7 USH1C USH2A WHRN
42 rhizomelic chondrodysplasia punctata type 5 9.9 ADGRV1 CLRN1 MT-TS2 MYO7A
43 trichomoniasis 9.9 CDH23 MYO7A PCDH15 USH1C USH2A
44 duodenum cancer 9.9 CEP78 MYO7A USH2A
45 retinal degeneration 9.9
46 uveitis 9.9
47 nonsyndromic deafness 9.9
48 retinal disease 9.9
49 fanconi anemia, complementation group f 9.9 CDH23 MYO7A USH1C USH1G USHBP1
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 ataxia 56 32 Frequent (79-30%) HP:0001251
2 hyperacusis 56 32 Occasional (29-5%) HP:0010780
3 nystagmus 56 32 Occasional (29-5%) HP:0000639
4 depression 56 32 Occasional (29-5%) HP:0000716
5 cataract 56 32 Frequent (79-30%) HP:0000518
6 hallucinations 56 32 Occasional (29-5%) HP:0000738
7 carious teeth 56 32 Occasional (29-5%) HP:0000670
8 sensorineural hearing impairment 56 32 Very frequent (99-80%) HP:0000407
9 abnormality of retinal pigmentation 56 32 Very frequent (99-80%) HP:0007703
10 blindness 56 32 Very frequent (99-80%) HP:0000618
11 cognitive impairment 56 32 Frequent (79-30%) HP:0100543
12 myopathy 56 32 Occasional (29-5%) HP:0003198
13 hypertrophic cardiomyopathy 56 32 Occasional (29-5%) HP:0001639
14 emg abnormality 56 32 Occasional (29-5%) HP:0003457
15 progressive visual loss 56 32 Very frequent (99-80%) HP:0000529
16 abnormal electroretinogram 56 32 Very frequent (99-80%) HP:0000512
17 microdontia 56 32 Occasional (29-5%) HP:0000691
18 anxiety 56 32 Occasional (29-5%) HP:0000739
19 visual field defect 56 32 Very frequent (99-80%) HP:0001123
20 cerebral cortical atrophy 56 32 Occasional (29-5%) HP:0002120
21 aplasia/hypoplasia of the cerebellum 56 32 Occasional (29-5%) HP:0007360
22 myopia 56 32 Frequent (79-30%) HP:0000545
23 psychosis 56 32 Occasional (29-5%) HP:0000709
24 decreased fertility 56 32 Occasional (29-5%) HP:0000144
25 abnormality of dental enamel 56 32 Occasional (29-5%) HP:0000682
26 high-grade hypermetropia 56 32 Frequent (79-30%) HP:0008499
27 tinnitus 56 32 Occasional (29-5%) HP:0000360
28 abnormality of cardiovascular system physiology 56 32 Occasional (29-5%) HP:0011025
29 astigmatism 56 32 Occasional (29-5%) HP:0000483
30 abnormality of dental color 56 32 Occasional (29-5%) HP:0011073
31 vestibular areflexia 56 32 Very frequent (99-80%) HP:0008568
32 visual impairment 56 Very frequent (99-80%)
33 night blindness 56 Very frequent (99-80%)
34 vestibular dysfunction 56 Very frequent (99-80%)
35 nyctalopia 32 HP:0000662

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 9.96 ADGRV1 CDH23 CIB2 CLRN1 EML1 MYO7A
2 hearing/vestibular/ear MP:0005377 9.9 ADGRV1 CDH23 CIB2 CLRN1 MYO7A PCDH15
3 nervous system MP:0003631 9.73 ADGRV1 CDH23 CIB2 CLRN1 EML1 MYO7A
4 vision/eye MP:0005391 9.36 PDZD7 USH1C USH1G USH2A WHRN ADGRV1

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 14)
id Name Status NCT ID Phase
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
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
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 Two Approaches to Routine HIV Testing in a Hospital Emergency Department Completed NCT01258582
9 Two Approaches to Routine HIV Testing in a Hospital Emergency Department Completed NCT00502944
10 Rate of Progression in USH2A Related Retinal Degeneration Recruiting NCT03146078
11 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940
12 Stem Cell Ophthalmology Treatment Study II Recruiting NCT03011541
13 Natural History and Genetic Studies of Usher Syndrome Active, not recruiting NCT00106743
14 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 441)
id Title Authors Year
1
Characterization of the ternary Usher syndrome SANS/ush2a/whirlin protein complex. ( 28137943 )
2017
2
A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula. ( 28469144 )
2017
3
Usher syndrome type 1-associated cadherins shape the photoreceptor outer segment. ( 28495838 )
2017
4
Outcomes of Late Implantation in Usher Syndrome Patients. ( 28382120 )
2017
5
Gene Therapy Restores Balance and Auditory Functions in a Mouse Model of Usher Syndrome. ( 28254438 )
2017
6
Psychosocial well-being and health-related quality of life in a UK population with Usher syndrome. ( 28082366 )
2017
7
Gene therapy approaches for prevention of retinal degeneration in Usher syndrome. ( 28054582 )
2017
8
Cochlear Implantation in Patients With Usher Syndrome Type IIa Increases Performance and Quality of Life. ( 28498263 )
2017
9
Gene therapy restores auditory and vestibular function in a mouse model of Usher syndrome type 1c. ( 28165476 )
2017
10
The combination of vestibular impairment and congenital sensorineural hearing loss predisposes patients to ocular anomalies, including Usher syndrome. ( 27743452 )
2016
11
The Time Course of Deafness and Retinal Degeneration in a Kunming Mouse Model for Usher Syndrome. ( 27186975 )
2016
12
CLINICAL PRESENTATION AND DISEASE COURSE OF USHER SYNDROME BECAUSE OF MUTATIONS IN MYO7A OR USH2A. ( 27828912 )
2016
13
Outer Retinal Changes Including the Ellipsoid Zone Band in Usher Syndrome 1B due to MYO7A Mutations. ( 27409480 )
2016
14
Impact of the Usher syndrome on olfaction. ( 26620972 )
2016
15
An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients. ( 27460420 )
2016
16
A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa. ( 27318125 )
2016
17
Compound heterozygous MYO7A mutations segregating Usher syndrome type 2 in a Han family. ( 27729122 )
2016
18
Hearing aid fitting for visual and hearing impaired patients with Usher Syndrome type IIa. ( 27759911 )
2016
19
Assessing Photoreceptor Structure in Retinitis Pigmentosa and Usher Syndrome. ( 27145477 )
2016
20
Usher syndrome in Denmark: mutation spectrum and some clinical observations. ( 27957503 )
2016
21
Impairment of Vision in a Mouse Model of Usher Syndrome Type III. ( 26943149 )
2016
22
Frequency of Usher syndrome type 1 in deaf children by massively parallel DNA sequencing. ( 26791358 )
2016
23
A small molecule mitigates hearing loss in a mouse model of Usher syndrome III. ( 27110679 )
2016
24
The E3 ligase Ubr3 regulates Usher syndrome and MYH9 disorder proteins in the auditory organs of Drosophila and mammals. ( 27331610 )
2016
25
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
26
CEP78 is mutated in a distinct type of Usher syndrome. ( 27627988 )
2016
27
Diversity of the Genes Implicated in Algerian Patients Affected by Usher Syndrome. ( 27583663 )
2016
28
Genetic analysis of Tunisian families with Usher syndrome type 1: toward improving early molecular diagnosis. ( 27440999 )
2016
29
MACULAR COLOBOMA IN A CHILD WITH USHER SYNDROME. ( 26411142 )
2015
30
Whole exome sequencing identifies mutations in usher syndrome genes in profoundly deaf tunisian patients. ( 25798947 )
2015
31
Novel grading system for quantification of cystic macular lesions in Usher syndrome. ( 26654877 )
2015
32
Targeted exome sequencing identified two novel truncation mutations in GPR98 causing Usher syndrome. ( 26432996 )
2015
33
A Founder Mutation in MYO7A Underlies a Significant Proportion of Usher Syndrome in Indigenous South Africans: Implications for the African Diaspora. ( 26469752 )
2015
34
Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients. ( 26338283 )
2015
35
Identification of a Novel CLRN1 Gene Mutation in Usher Syndrome Type 3: Two Case Reports. ( 25743179 )
2015
36
[Analysis of USH2A gene mutation in a Chinese family affected with Usher syndrome]. ( 26252086 )
2015
37
Whole-exome sequencing identifies USH2A mutations in a pseudo-dominant Usher syndrome family. ( 26310143 )
2015
38
Cone responses in Usher syndrome types 1 and 2 by microvolt electroretinography. ( 25425308 )
2015
39
Correction: Novel Compound Heterozygous Mutations in MYO7A Associated with Usher Syndrome 1 in a Chinese Family. ( 26425852 )
2015
40
Zebrafish Models for the Mechanosensory Hair Cell Dysfunction in Usher Syndrome 3 Reveal That Clarin-1 Is an Essential Hair Bundle Protein. ( 26180195 )
2015
41
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
42
Usher syndrome: an effective sequencing approach to establish a genetic and clinical diagnosis. ( 25575603 )
2015
43
Choroidal Thickness Analysis in Patients with Usher Syndrome Type 2 Using EDI OCT. ( 26075083 )
2015
44
Duane retraction syndrome type 1 with Usher syndrome type 2: an unreported association. ( 25955520 )
2015
45
Partial USH2A deletions contribute to Usher syndrome in Denmark. ( 25804404 )
2015
46
Whole-exome sequencing revealed two novel mutations in Usher syndrome. ( 25834954 )
2015
47
Partial USH2A deletions contribute to Usher syndrome in Denmark. ( 26559128 )
2015
48
Senear-Usher syndrome presenting with bipolar disorder: Management challenges. ( 26814382 )
2015
49
Apparent Usher Syndrome Caused by the Combination of BBS1-Associated Retinitis Pigmentosa and SLC26A4-Associated Deafness. ( 26022370 )
2015
50
Simultaneous bilateral cochlear implantation in a five-month-old child with Usher syndrome. ( 26177750 )
2015

Variations for Usher Syndrome

ClinVar genetic disease variations for Usher Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 ADGRV1 NM_032119.3(ADGRV1): c.6901C> T (p.Gln2301Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121909762 GRCh37 Chromosome 5, 89986808: 89986808
2 MT-TS2 m.12258C> A single nucleotide variant Pathogenic rs118203888 GRCh37 Chromosome MT, 12258: 12258

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 synapse GO:0045202 9.83 ADGRV1 MYO7A PCDH15 USH1C
3 ciliary basal body GO:0036064 9.73 CEP78 USH1G USH2A WHRN
4 photoreceptor outer segment GO:0001750 9.71 CIB2 MYO7A PCDH15 USH1C
5 microvillus GO:0005902 9.67 CLRN1 MYO7A USH1C
6 photoreceptor connecting cilium GO:0032391 9.62 MYO7A USH1G USH2A WHRN
7 stereocilium bundle GO:0032421 9.54 PCDH15 USH2A WHRN
8 periciliary membrane compartment GO:1990075 9.48 USH2A WHRN
9 stereocilia ankle link complex GO:0002142 9.46 USH2A WHRN
10 USH2 complex GO:1990696 9.43 PDZD7 USH2A WHRN
11 photoreceptor inner segment GO:0001917 9.43 CIB2 MYO7A USH1C USH1G USH2A WHRN
12 stereocilia ankle link GO:0002141 9.33 PDZD7 USH2A WHRN
13 stereocilium GO:0032420 9.23 ADGRV1 CDH23 CIB2 CLRN1 MYO7A PCDH15

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

(show all 16)
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 response to stimulus GO:0050896 9.86 ADGRV1 CDH23 CLRN1 USH2A
4 sensory perception of light stimulus GO:0050953 9.81 ADGRV1 CDH23 CLRN1 MYO7A PCDH15 USH1C
5 inner ear receptor stereocilium organization GO:0060122 9.8 CDH23 MYO7A PCDH15 USH1C USH1G WHRN
6 auditory receptor cell stereocilium organization GO:0060088 9.77 CLRN1 MYO7A PCDH15 PDZD7 WHRN
7 inner ear morphogenesis GO:0042472 9.7 MYO7A USH1C USH1G
8 establishment of protein localization GO:0045184 9.65 PDZD7 USH2A WHRN
9 auditory receptor cell differentiation GO:0042491 9.63 MYO7A PCDH15 USH1C
10 inner ear receptor cell differentiation GO:0060113 9.61 MYO7A USH1G USH2A
11 photoreceptor cell maintenance GO:0045494 9.56 ADGRV1 CDH23 CIB2 CLRN1 PCDH15 USH1C
12 actin filament bundle assembly GO:0051017 9.55 PCDH15 USH1C
13 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.54 PCDH15 PDZD7
14 auditory receptor cell development GO:0060117 9.51 CLRN1 PDZD7
15 maintenance of animal organ identity GO:0048496 9.49 ADGRV1 USH2A
16 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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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