USH
MCID: USH001
MIFTS: 53

Usher Syndrome (USH) malady

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

Aliases & Classifications for Usher Syndrome

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Sources:
11Disease Ontology, 13DISEASES, 24GeneTests, 25Genetics Home Reference, 31ICD10 via Orphanet, 35LifeMap Discovery®, 38MedlinePlus, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 50Novoseek, 54Orphanet, 62SNOMED-CT, 68UMLS, 69UMLS via Orphanet, 71Wikipedia
See all MalaCards sources

Aliases & Descriptions for Usher Syndrome:

Name: Usher Syndrome 11 71 48 24 25 54 50 38 13 35 68
Retinitis Pigmentosa-Deafness Syndrome 25 54
Deafness-Retinitis Pigmentosa Syndrome 48 25
Graefe-Usher Syndrome 48 25
Hallgren Syndrome 48 25
 
Usher's Syndrome 48 25
Dystrophia Retinae Pigmentosa-Dysostosis Syndrome 48
Usher Syndromes 39
Ush 54

Characteristics:

Orphanet epidemiological data:

54
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 Ontology11 DOID:0050439
MeSH39 D052245
NCIt45 C85217
Orphanet54 ORPHA886
SNOMED-CT62 57838006, 73119000
UMLS via Orphanet69 C0271097
MESH via Orphanet40 D052245
ICD10 via Orphanet31 H35.5

Summaries for Usher Syndrome

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NIH Rare Diseases:48 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 coughing, snoring and sore throat. An important gene associated with Usher Syndrome is MT-TS2 (Mitochondrially Encoded TRNA Serine 2 (AGU/C)). Affiliated tissues include retina, eye and cerebellum, and related mouse phenotypes are behavior/neurological and hearing/vestibular/ear.

Disease Ontology:11 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:38 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:71 Usher syndrome, also known as Hallgren syndrome, Usher-Hallgren syndrome, retinitis pigmentosa-dysacusis... more...

Related Diseases for Usher Syndrome

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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)
idRelated DiseaseScoreTop Affiliating Genes
1usher syndrome, type 1f33.1ADGRV1, CDH23, MYO7A, PCDH15, USH1C, USH1G
2usher syndrome, type 1b12.5
3usher syndrome, type 3a12.4
4usher syndrome, type 2a12.4
5usher syndrome, type 1d12.4
6usher syndrome, type 1c12.4
7usher syndrome, type 1g12.3
8usher syndrome, type 2c12.3
9usher syndrome, type 2d12.2
10usher syndrome, type ij12.2
11usher syndrome type 3b12.2
12usher syndrome type 212.2
13usher syndrome, type ik12.2
14usher syndrome type 1h12.0
15osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome12.0
16usher syndrome, type 2b11.7
17pemphigus erythematosus11.5
18retinitis pigmentosa-deafness syndrome11.3
19retinitis pigmentosa11.2
20alstrom syndrome10.8
21retinitis10.4
22pnpla6-related disorders10.2CLRN1, USH2A
23polycystic kidney disease10.2
24manitoba oculotrichoanal syndrome10.2CDH23, MYO7A
25sjogren-larsson syndrome10.2CDH23, MYO7A
26fibrochondrogenesis 210.2MYO7A, USH2A
2746xy partial gonadal dysgenesis, with minifascicular neuropathy10.2CIB2, MYO7A
28die smulders droog van dijk syndrome10.2MYO7A, PCDH15
29autosomal dominant nonsyndromic deafness 6810.2USH1C, USH1G
30charcot-marie-tooth disease, type 1d10.2CDH23, MYO7A, PCDH15
31robinow syndrome, autosomal dominant 110.1ADGRV1, MYO7A, USH2A
32autosomal dominant nonsyndromic deafness 6910.1CDH23, MYO7A
33obesity susceptibility, adrb3-related10.1CDH23, MYO7A, USH1C, USH2A
34cardiomyopathy, dilated, 1kk10.1MYO7A, PCDH15, USH1C, USH1G
35deafness, autosomal recessive 2310.0CDH23, MYO7A, PCDH15, USH1C
36autosomal recessive nonsyndromic deafness 9710.0CDH23, MYO7A
37narcissistic personality disorder10.0CDH23, MYO7A, PCDH15, USH1C
38pemphigus10.0
39adult liposarcoma10.0MYO7A, PCDH15, PDZD7, USH2A
40pierre robin syndrome10.0CDH23, MYO7A, PCDH15, USH1C, USH1G
41retinitis pigmentosa 3910.0PDZD7, USH1C, USH2A, WHRN
42rhizomelic chondrodysplasia punctata type 59.9ADGRV1, CLRN1, MT-TS2, MYO7A
43trichomoniasis9.9CDH23, MYO7A, PCDH15, USH1C, USH2A
44duodenum cancer9.9CEP78, MYO7A, USH2A
45nonsyndromic deafness9.9
46uveitis9.9
47retinal disease9.9
48retinal degeneration9.9
49fanconi anemia, complementation group f9.9CDH23, MYO7A, USH1C, USH1G, USHBP1
50choroideremia9.9

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



Diseases related to usher syndrome

Symptoms & Phenotypes for Usher Syndrome

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Human phenotypes related to Usher Syndrome:

 54 64 (show all 35)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 decreased fertility64 54 Occasional (29-5%) HP:0000144
2 tinnitus64 54 Occasional (29-5%) HP:0000360
3 sensorineural hearing impairment64 54 Very frequent (99-80%) HP:0000407
4 astigmatism64 54 Occasional (29-5%) HP:0000483
5 visual impairment54 Very frequent (99-80%)
6 abnormal electroretinogram64 54 Very frequent (99-80%) HP:0000512
7 cataract64 54 Frequent (79-30%) HP:0000518
8 progressive visual loss64 54 Very frequent (99-80%) HP:0000529
9 myopia64 54 Frequent (79-30%) HP:0000545
10 blindness64 54 Very frequent (99-80%) HP:0000618
11 nystagmus64 54 Occasional (29-5%) HP:0000639
12 night blindness54 Very frequent (99-80%)
13 carious teeth64 54 Occasional (29-5%) HP:0000670
14 abnormality of dental enamel64 54 Occasional (29-5%) HP:0000682
15 microdontia64 54 Occasional (29-5%) HP:0000691
16 psychosis64 54 Occasional (29-5%) HP:0000709
17 depression64 54 Occasional (29-5%) HP:0000716
18 hallucinations64 54 Occasional (29-5%) HP:0000738
19 anxiety64 54 Occasional (29-5%) HP:0000739
20 visual field defect64 54 Very frequent (99-80%) HP:0001123
21 ataxia64 54 Frequent (79-30%) HP:0001251
22 hypertrophic cardiomyopathy64 54 Occasional (29-5%) HP:0001639
23 vestibular dysfunction54 Very frequent (99-80%)
24 cerebral cortical atrophy64 54 Occasional (29-5%) HP:0002120
25 myopathy64 54 Occasional (29-5%) HP:0003198
26 emg abnormality64 54 Occasional (29-5%) HP:0003457
27 aplasia/hypoplasia of the cerebellum64 54 Occasional (29-5%) HP:0007360
28 abnormality of retinal pigmentation64 54 Very frequent (99-80%) HP:0007703
29 high-grade hypermetropia64 54 Frequent (79-30%) HP:0008499
30 vestibular areflexia64 54 Very frequent (99-80%) HP:0008568
31 hyperacusis64 54 Occasional (29-5%) HP:0010780
32 abnormality of cardiovascular system physiology64 54 Occasional (29-5%) HP:0011025
33 abnormality of dental color64 54 Occasional (29-5%) HP:0011073
34 cognitive impairment64 54 Frequent (79-30%) HP:0100543
35 nyctalopia64 HP:0000662

UMLS symptoms related to Usher Syndrome:


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

MGI Mouse Phenotypes related to Usher Syndrome according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053867.4ADGRV1, CDH23, CIB2, CLRN1, EML1, MYO7A
2MP:00053777.1ADGRV1, CDH23, CIB2, CLRN1, MYO7A, PCDH15
3MP:00036316.6ADGRV1, CDH23, CIB2, CLRN1, EML1, MYO7A
4MP:00053916.3ADGRV1, CDH23, CLRN1, EML1, MYO7A, PCDH15

Drugs & Therapeutics for Usher Syndrome

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Drugs for Usher Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Omega 3 Fatty AcidNutraceutical1018

Interventional clinical trials:

(show all 14)
idNameStatusNCT IDPhase
1Study of UshStat in Patients With Retinitis Pigmentosa Associated With Usher Syndrome Type 1BRecruitingNCT01505062Phase 1, Phase 2
2Retinal Imaging of Subjects Implanted With Ciliary Neurotrophic Factor (CNTF)-Releasing Encapsulated Cell Implant for Early-stage Retinitis PigmentosaActive, not recruitingNCT01530659Phase 2
3A Study to Determine the Long-Term Safety, Tolerability and Biological Activity of UshStat® in Patients With Usher Syndrome Type 1BEnrolling by invitationNCT02065011Phase 1, Phase 2
4Clinical and Genetic Examination of Usher Syndrome Patients' Cohort in EuropeUnknown statusNCT01954953
5A Genetic Analysis of Usher Syndrome in Ashkenazi JewsCompletedNCT00016471
6Study of Usher Syndromes, Type 1 and Type 2CompletedNCT00001347
7Molecular Genetics of Retinal DegenerationsCompletedNCT00231010
8Two Approaches to Routine HIV Testing in a Hospital Emergency DepartmentCompletedNCT01258582
9Two Approaches to Routine HIV Testing in a Hospital Emergency DepartmentCompletedNCT00502944
10Rate of Progression in USH2A Related Retinal DegenerationRecruitingNCT03146078
11Inherited Retinal Degenerative Disease RegistryRecruitingNCT02435940
12Stem Cell Ophthalmology Treatment Study IIRecruitingNCT03011541
13Natural History and Genetic Studies of Usher SyndromeActive, not recruitingNCT00106743
14Study of Dietary N-3 Fatty Acids in Patients With Retinitis Pigmentosa and Usher SyndromeTerminatedNCT00004345

Search NIH Clinical Center for Usher Syndrome


Cochrane evidence based reviews: usher syndromes

Genetic Tests for Usher Syndrome

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Genetic tests related to Usher Syndrome:

id Genetic test Affiliating Genes
1 Usher Syndrome24

Anatomical Context for Usher Syndrome

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MalaCards organs/tissues related to Usher Syndrome:

36
Retina, Eye, Cerebellum, Bone, Testes

Publications for Usher Syndrome

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Articles related to Usher Syndrome:

(show top 50)    (show all 441)
idTitleAuthorsYear
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

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Clinvar genetic disease variations for Usher Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1ADGRV1NM_ 032119.3(ADGRV1): c.6901C> T (p.Gln2301Ter)SNVPathogenic/ Likely pathogenicrs121909762GRCh37Chr 5, 89986808: 89986808
2MT-TS2m.12258C> ASNVPathogenicrs118203888GRCh37Chr MT, 12258: 12258

Copy number variations for Usher Syndrome from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
144193105330000082000000Deletion,duplicationPCDH15Usher syndrome
244195105330000098000000Deletion,duplicationCDH23Usher syndrome
344196117651695776603934Deletion,duplicationMYO7AUsher syndrome
444198111747201717522539Deletion,duplicationUSH1CUsher syndrome
544199177042377070430946Deletion,duplicationUSH1GUsher syndrome
659431117520000077100000Copy numberMYO7AUsher syndrome

Expression for genes affiliated with Usher Syndrome

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Search GEO for disease gene expression data for Usher Syndrome.

Pathways for genes affiliated with Usher Syndrome

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GO Terms for genes affiliated with Usher Syndrome

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1microvillusGO:000590210.3CLRN1, MYO7A, USH1C
2periciliary membrane compartmentGO:199007510.1USH2A, WHRN
3stereocilia ankle link complexGO:000214210.1USH2A, WHRN
4photoreceptor outer segmentGO:00017509.8CIB2, MYO7A, PCDH15, USH1C
5stereocilium bundleGO:00324219.7PCDH15, USH2A, WHRN
6photoreceptor connecting ciliumGO:00323919.6MYO7A, USH1G, USH2A, WHRN
7stereocilia ankle linkGO:00021419.5PDZD7, USH2A, WHRN
8ciliary basal bodyGO:00360649.3CEP78, USH1G, USH2A, WHRN
9synapseGO:00452029.2ADGRV1, MYO7A, PCDH15, USH1C
10USH2 complexGO:19906968.9PDZD7, USH2A, WHRN
11cell projectionGO:00429958.9CIB2, PDZD7, USH1C, USH2A, WHRN
12photoreceptor inner segmentGO:00019178.9CIB2, MYO7A, USH1C, USH1G, USH2A, WHRN
13stereociliumGO:00324208.0ADGRV1, CDH23, CIB2, CLRN1, MYO7A, PCDH15

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1maintenance of animal organ identityGO:004849610.6ADGRV1, USH2A
2actin filament bundle assemblyGO:005101710.5PCDH15, USH1C
3inner ear receptor cell differentiationGO:006011310.4MYO7A, USH1G, USH2A
4inner ear morphogenesisGO:004247210.4MYO7A, USH1C, USH1G
5auditory receptor cell developmentGO:006011710.4CLRN1, PDZD7
6detection of mechanical stimulus involved in sensory perception of soundGO:005091010.3PCDH15, PDZD7
7auditory receptor cell differentiationGO:004249110.3MYO7A, PCDH15, USH1C
8response to stimulusGO:00508969.9ADGRV1, CDH23, CLRN1, USH2A
9establishment of protein localizationGO:00451849.6PDZD7, USH2A, WHRN
10equilibrioceptionGO:00509579.4CDH23, CLRN1, MYO7A, PCDH15, USH1C, USH1G
11auditory receptor cell stereocilium organizationGO:00600888.9CLRN1, MYO7A, PCDH15, PDZD7, WHRN
12inner ear receptor stereocilium organizationGO:00601228.8CDH23, MYO7A, PCDH15, USH1C, USH1G, WHRN
13photoreceptor cell maintenanceGO:00454948.6ADGRV1, CDH23, CIB2, CLRN1, PCDH15, USH1C
14visual perceptionGO:00076018.6ADGRV1, CDH23, CLRN1, MYO7A, PCDH15, USH2A
15sensory perception of light stimulusGO:00509537.9ADGRV1, CDH23, CLRN1, MYO7A, PCDH15, USH1C
16sensory perception of soundGO:00076057.9ADGRV1, CDH23, CLRN1, MYO7A, PCDH15, USH1C

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

idNameGO IDScoreTop Affiliating Genes
1spectrin bindingGO:00305079.7MYO7A, USH1C, USH1G
2calcium ion bindingGO:00055099.3ADGRV1, CDH23, CIB2, EML1, PCDH15
3protein homodimerization activityGO:00428038.3CIB2, MYO7A, PDZD7, USH1G, USH2A, WHRN

Sources for Usher Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet