USH
MCID: USH001
MIFTS: 64

Usher Syndrome (USH)

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

Aliases & Classifications for Usher Syndrome

MalaCards integrated aliases for Usher Syndrome:

Name: Usher Syndrome 12 73 20 43 58 36 29 54 6 42 15 37 39 70
Dystrophia Retinae Pigmentosa-Dysostosis Syndrome 20 6
Retinitis Pigmentosa-Deafness Syndrome 43 58
Deafness-Retinitis Pigmentosa Syndrome 20 43
Graefe-Usher Syndrome 20 43
Hallgren Syndrome 20 43
Usher's Syndrome 20 43
Retinitis Pigmentosa-Hearing Loss Syndrome 58
Usher Syndromes 44
Ush 58

Characteristics:

Orphanet epidemiological data:

58
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:

Orphanet: 58  
Rare eye diseases
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


Summaries for Usher Syndrome

MedlinePlus Genetics : 43 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.Researchers have identified three major types of Usher syndrome, designated as types I, II, and III. These types are distinguished by the severity of hearing loss, the presence or absence of balance problems, and the age at which signs and symptoms appear. The types are further divided into subtypes based on their genetic cause.Most individuals with Usher syndrome type I are born with severe to profound hearing loss. Progressive vision loss caused by retinitis pigmentosa becomes apparent in childhood. This type of Usher syndrome also causes abnormalities of the vestibular system, which is the part of the inner ear that helps maintain the body's balance and orientation in space. As a result of the vestibular abnormalities, children with the condition have trouble with balance. They begin sitting independently and walking later than usual, and they may have difficulty riding a bicycle and playing certain sports.Usher syndrome type II is characterized by hearing loss from birth and progressive vision loss that begins in adolescence or adulthood. The hearing loss associated with this form of Usher syndrome ranges from mild to severe and mainly affects the ability to hear high-frequency sounds. For example, it is difficult for affected individuals to hear high, soft speech sounds, such as those of the letters d and t. The degree of hearing loss varies within and among families with this condition, and it may become more severe over time. Unlike the other forms of Usher syndrome, type II is not associated with vestibular abnormalities that cause difficulties with balance.People with Usher syndrome type III experience hearing loss and vision loss beginning somewhat later in life. Unlike the other forms of Usher syndrome, type III is usually associated with normal hearing at birth. Hearing loss typically begins during late childhood or adolescence, after the development of speech, and becomes more severe over time. By middle age, most affected individuals have profound hearing loss. Vision loss caused by retinitis pigmentosa also develops in late childhood or adolescence. Some people with Usher syndrome type III develop vestibular abnormalities that cause problems with balance.

MalaCards based summary : Usher Syndrome, also known as dystrophia retinae pigmentosa-dysostosis syndrome, is related to usher syndrome, type i and usher syndrome, type id, and has symptoms including tinnitus, snoring and sore throat. An important gene associated with Usher Syndrome is USH1G (USH1 Protein Network Component Sans). The drug Omega 3 Fatty Acid has been mentioned in the context of this disorder. Affiliated tissues include eye, retina 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.

GARD : 20 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.

MedlinePlus : 42 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

KEGG : 36 Usher syndrome (USH) is a group of autosomal recessively inherited disorders characterized by deafness and vision loss. Three clinical types USH1, USH2, and USH3, are distinguished on the basis of severity of hearing loss and the presence or absence of vestibular dysfunction. USH1 patients are congenitally profoundly deaf, and have vestibular dysfunction as well as prepubertal onset of progressive retinitis pigmentosa (RP). USH2 is characterized by congenital mild hearing impairment with normal vestibular responses. USH3 is characterized by a progressive hearing loss, a variable vestibular dysfunction, and RP. USH shows significant genetic heterogeneity, and at least 11 distinct loci have been identified and genes for 9 of them have been cloned.

Wikipedia : 73 Usher syndrome, also known as Hallgren syndrome, Usher-Hallgren syndrome, retinitis pigmentosa-dysacusis... more...

Related Diseases for Usher Syndrome

Diseases in the Usher Syndrome family:

Usher Syndrome, Type I Usher Syndrome, Type Iia
Usher Syndrome, Type Iiia Usher Syndrome, Type Ic
Usher Syndrome, Type Id Usher Syndrome, Type if
Usher Syndrome, Type Iic Usher Syndrome, Type Ig
Usher Syndrome, Type Iid Usher Syndrome, Type Ih
Usher Syndrome, Type Iiib Usher Syndrome, Type Ij
Usher Syndrome, Type Ik Usher Syndrome, Type Iv
Usher Syndrome, Type 1m 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 227)
# Related Disease Score Top Affiliating Genes
1 usher syndrome, type i 34.6 WHRN USH2A-AS1 USH2A USH1G USH1C PDZD7
2 usher syndrome, type id 34.3 WHRN USH2A USH1G USH1C PDZD7 PCDH15
3 usher syndrome, type iiia 34.3 WHRN USH2A USH1G USH1C PDZD7 PCDH15
4 usher syndrome, type iia 34.2 WHRN USH2A-AS2 USH2A-AS1 USH2A USH1C PDZD7
5 usher syndrome, type iic 34.2 WHRN USH2A USH1G USH1C PDZD7 PCDH15
6 usher syndrome, type if 34.1 WHRN USH2A USH1G USH1C PDZD7 PCDH15
7 usher syndrome, type iid 34.1 WHRN USH2A USH1G USH1C PDZD7 PCDH15
8 usher syndrome, type ij 34.0 WHRN USH2A USH1G USH1C PDZD7 PCDH15
9 usher syndrome type 2 34.0 WHRN USH2A-AS2 USH2A-AS1 USH2A USH1G USH1C
10 usher syndrome, type ic 33.9 USH1G USH1C PCDH15 MYO7A CDH23
11 usher syndrome, type iiib 33.9 WHRN USH2A USH1G USH1C PCDH15 MYO7A
12 usher syndrome, type ig 33.8 WHRN USH1G USH1C PCDH15 OTOP2 MYO7A
13 retinitis pigmentosa-deafness syndrome 33.8 WHRN USH2A-AS2 USH2A-AS1 USH2A USH1G USH1C
14 retinitis pigmentosa 33.8 WHRN USH2A-AS2 USH2A-AS1 USH2A USH1G USH1C
15 usher syndrome, type ih 33.7 WHRN USH1G USH1C PCDH15 MYO7A CIB2
16 usher syndrome, type ik 33.4 PCDH15 CIB2 CDH23
17 rare genetic deafness 32.6 WHRN USH2A-AS2 USH2A-AS1 USH2A USH1C PCDH15
18 sensorineural hearing loss 32.6 WHRN USH2A USH1G USH1C PDZD7 PCDH15
19 branchiootic syndrome 1 32.5 WHRN USH2A-AS1 USH2A USH1G MYO7A CDH23
20 autosomal recessive non-syndromic sensorineural deafness type dfnb 32.4 WHRN USH2A USH1G USH1C PCDH15 MYO7A
21 deafness, autosomal recessive 2 32.2 WHRN USH1G USH1C PDZD7 PCDH15 MYO7A
22 fundus dystrophy 32.0 WHRN USH2A-AS2 USH2A-AS1 USH2A USH1G USH1C
23 retinal degeneration 32.0 USH2A USH1C MYO7A CDH23 BBS1
24 retinal disease 32.0 USH2A USH1G USH1C PDZD7 PCDH15 MYO7A
25 retinitis pigmentosa 39 31.9 USH2A-AS2 USH2A-AS1 USH2A
26 cone-rod dystrophy 2 31.9 USH2A-AS2 USH2A-AS1 USH2A USH1C PCDH15 MYO7A
27 yemenite deaf-blind hypopigmentation syndrome 31.8 USH2A MYO7A
28 deafness, autosomal recessive 12 31.7 WHRN USH2A USH1G USH1C PCDH15 MYO7A
29 deafness, autosomal recessive 31 31.6 WHRN USH2A PDZD7 CIB2 ADGRV1
30 deafness, autosomal recessive 23 31.6 WHRN USH2A USH1G USH1C PCDH15 MYO7A
31 nonsyndromic hearing loss 31.5 USH2A-AS1 USH2A PCDH15 MYO7A CDH23
32 deafness, autosomal recessive 18a 31.5 USH1C PCDH15 MYO7A CDH23
33 nonsyndromic retinitis pigmentosa 31.2 USH2A BBS1
34 deafness, autosomal dominant 11 31.2 WHRN USH1G USH1C PDZD7 PCDH15 MYO7A
35 bardet-biedl syndrome 31.2 WHRN USH2A USH1C PCDH15 MYO7A CDH23
36 autosomal dominant non-syndromic sensorineural deafness type dfna 31.1 USH1G PCDH15 MYO7A ESPN CIB2 CDH23
37 deafness, autosomal recessive 48 31.1 WHRN PDZD7 MYO7A CIB2
38 deafness, autosomal recessive 31.0 WHRN USH1G USH1C PCDH15 MYO7A ESPN
39 deafness, autosomal recessive 57 31.0 WHRN PDZD7 CIB2 ADGRV1
40 leber plus disease 30.9 WHRN USH2A-AS2 USH2A USH1C MYO7A CDH23
41 non-syndromic genetic deafness 30.7 USH2A-AS1 USH2A MYO7A CDH23
42 rare deafness 30.6 PCDH15 CDH23
43 deafness, autosomal dominant 20 30.4 USH1G CDH23
44 usher syndrome, type iv 11.6
45 usher syndrome, type 1m 11.6
46 osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome 11.4
47 alstrom syndrome 11.3
48 usher syndrome, type 2b 11.2
49 pemphigus erythematosus 11.2
50 neuroretinitis 11.0

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



Diseases related to Usher Syndrome

Symptoms & Phenotypes for Usher Syndrome

Human phenotypes related to Usher Syndrome:

58 31 (show all 35)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000407
2 abnormality of retinal pigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007703
3 blindness 58 31 hallmark (90%) Very frequent (99-80%) HP:0000618
4 progressive visual loss 58 31 hallmark (90%) Very frequent (99-80%) HP:0000529
5 abnormal electroretinogram 58 31 hallmark (90%) Very frequent (99-80%) HP:0000512
6 nyctalopia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000662
7 visual field defect 58 31 hallmark (90%) Very frequent (99-80%) HP:0001123
8 vestibular areflexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008568
9 ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0001251
10 cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000518
11 cognitive impairment 58 31 frequent (33%) Frequent (79-30%) HP:0100543
12 myopia 58 31 frequent (33%) Frequent (79-30%) HP:0000545
13 high hypermetropia 58 31 frequent (33%) Frequent (79-30%) HP:0008499
14 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
15 depressivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0000716
16 hallucinations 58 31 occasional (7.5%) Occasional (29-5%) HP:0000738
17 carious teeth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000670
18 myopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003198
19 microdontia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000691
20 anxiety 58 31 occasional (7.5%) Occasional (29-5%) HP:0000739
21 hypertrophic cardiomyopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001639
22 emg abnormality 58 31 occasional (7.5%) Occasional (29-5%) HP:0003457
23 cerebral cortical atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002120
24 decreased fertility 58 31 occasional (7.5%) Occasional (29-5%) HP:0000144
25 aplasia/hypoplasia of the cerebellum 58 31 occasional (7.5%) Occasional (29-5%) HP:0007360
26 abnormality of dental enamel 58 31 occasional (7.5%) Occasional (29-5%) HP:0000682
27 hyperacusis 58 31 occasional (7.5%) Occasional (29-5%) HP:0010780
28 psychosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000709
29 astigmatism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000483
30 abnormality of dental color 58 31 occasional (7.5%) Occasional (29-5%) HP:0011073
31 tinnitus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000360
32 abnormal cardiovascular system physiology 31 occasional (7.5%) HP:0011025
33 visual impairment 58 Very frequent (99-80%)
34 abnormality of cardiovascular system physiology 58 Occasional (29-5%)
35 vestibular dysfunction 58 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.07 ADGRV1 ARSG BBS1 CDH23 CEP250 CIB2
2 hearing/vestibular/ear MP:0005377 9.97 ADGRV1 BBS1 CDH23 CEP250 CIB2 ESPN
3 nervous system MP:0003631 9.83 ADGRV1 ARSG BBS1 CDH23 CEP250 CIB2
4 vision/eye MP:0005391 9.47 ADGRV1 ARSG BBS1 CDH23 CEP250 CIB2

Drugs & Therapeutics for Usher Syndrome

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


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

Interventional clinical trials:

(show all 18)
# Name Status NCT ID Phase Drugs
1 Photoreceptor Structure in A Phase 2 Study of Encapsulated Human NTC-201 Cell Implants Releasing Ciliary Neurotrophic Factor (CNTF) for Participants With Retinitis Pigmentosa Using Rates of Change in Cone Spacing and Density Unknown status NCT01530659 Phase 2 NT-501
2 Safety and Efficacy of NPI-001 Tablets Versus Placebo for Treatment of Retinitis Pigmentosa Associated With Usher Syndrome Recruiting NCT04355689 Phase 1, Phase 2 NPI-001
3 A First-in-Human Study to Evaluate the Safety and Tolerability of QR-421a in Subjects With Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene Recruiting NCT03780257 Phase 1, Phase 2 QR-421a
4 An Open-label Study to Determine the Long-term Safety, Tolerability and Biological Activity of SAR421869 in Patients With Usher Syndrome Type 1B Active, not recruiting NCT02065011 Phase 1, Phase 2 Blood draw for the laboratory assessment
5 A Phase I/IIA Dose Escalation Safety Study of Subretinally Injected SAR421869, Administered to Patients With Retinitis Pigmentosa Associated With Usher Syndrome Type 1B Terminated NCT01505062 Phase 1, Phase 2 SAR421869
6 European Research Projects on Rare Diseases Driven by Young Investigators Unknown status NCT01954953
7 Prospective Open Label Clinical and Genetic Testing of Patients With Retinitis Pigment Unknown status NCT03901391
8 A Genetic Analysis of Usher Syndrome in Ashkenazi Jews Completed NCT00016471
9 Prospective Open Label Clinical and Genetic Testing of Patients With Usher Syndrome Completed NCT03319524
10 Natural History and Genetic Studies of Usher Syndrome Completed NCT00106743
11 Usher Syndrome - Clinical and Molecular Studies Completed NCT00001347
12 Natural History Study of Usher Syndrome in a Cohort of Patients Followed Longitudinally for 5 Years Recruiting NCT04665726
13 A Multicentre Longitudinal, Observational Natural History Study to Evaluate Disease Progression in Subjects With Usher Syndrome Type 1B (USH1B) Recruiting NCT03814499
14 Foundation Fighting Blindness Registry, My Retina Tracker Recruiting NCT02435940
15 Phenotype Correlates Genotype of Inherited Retina Dystrophies Recruiting NCT03990727
16 Rate of Progression in USH2A-related Retinal Degeneration Active, not recruiting NCT03146078
17 Characterizing Rate of Progression in USHer Syndrome (CRUSH) Study Active, not recruiting NCT04820244
18 Study of Dietary N-3 Fatty Acids in Patients With Retinitis Pigmentosa and Usher Syndrome Terminated NCT00004345

Search NIH Clinical Center for Usher Syndrome

Cochrane evidence based reviews: usher syndromes

Genetic Tests for Usher Syndrome

Genetic tests related to Usher Syndrome:

# Genetic test Affiliating Genes
1 Usher Syndrome 29

Anatomical Context for Usher Syndrome

MalaCards organs/tissues related to Usher Syndrome:

40
Eye, Retina, Cerebellum, Breast, Skin, Bone Marrow, Cortex

Publications for Usher Syndrome

Articles related to Usher Syndrome:

(show top 50) (show all 1340)
# Title Authors PMID Year
1
Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genes. 61 54 6
20052763 2010
2
Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II. 6 54 61
19881469 2009
3
Identification of 11 novel mutations in USH2A among Japanese patients with Usher syndrome type 2. 6 54 61
19737284 2009
4
Disease boundaries in the retina of patients with Usher syndrome caused by MYO7A gene mutations. 54 6 61
19074810 2009
5
An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians. 6 61 54
18665195 2009
6
Disease course in patients with autosomal recessive retinitis pigmentosa due to the USH2A gene. 6 54 61
18641288 2008
7
Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome. 6 54 61
18719945 2008
8
Impacts of Usher syndrome type IB mutations on human myosin VIIa motor function. 61 54 6
18700726 2008
9
Four USH2A founder mutations underlie the majority of Usher syndrome type 2 cases among non-Ashkenazi Jews. 6 54 61
18452394 2008
10
Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function. 6 61 54
18181211 2008
11
Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II. 61 54 6
18273898 2008
12
Identification of five novel mutations in the long isoform of the USH2A gene in Chinese families with Usher syndrome type II. 54 6 61
19023448 2008
13
Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients. 54 61 6
17405132 2007
14
MYO7A mutation screening in Usher syndrome type I patients from diverse origins. 54 6 61
17361009 2007
15
Novel USH2A mutations in Israeli patients with retinitis pigmentosa and Usher syndrome type 2. 61 54 6
17296898 2007
16
Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II. 6 54 61
17085681 2006
17
Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I. 61 54 6
16470552 2006
18
Novel mutations in MYO7A and USH2A in Usher syndrome. 61 6 54
15823922 2005
19
Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population. 61 54 6
15660226 2005
20
Disease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotype. 6 61 54
15671307 2005
21
Variable clinical features in patients with CDH23 mutations (USH1D-DFNB12). 61 54 6
15353998 2004
22
Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa. 54 6 61
15325563 2004
23
USH2A mutation analysis in 70 Dutch families with Usher syndrome type II. 54 6 61
15241801 2004
24
Mutational spectrum in Usher syndrome type II. 61 54 6
15025721 2004
25
Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II. 61 6 54
14740321 2004
26
PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23. 61 6 54
14570705 2003
27
The contribution of USH1C mutations to syndromic and non-syndromic deafness in the UK. 6 54 61
12702164 2003
28
Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F. 6 54 61
11398101 2001
29
A common ancestral origin of the frequent and widespread 2299delG USH2A mutation. 6 61 54
11402400 2001
30
Spectrum of mutations in USH2A in British patients with Usher syndrome type II. 54 6 61
11311042 2001
31
Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D. 54 61 6
11138009 2001
32
A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene. 6 61 54
10973248 2000
33
A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C. 61 6 54
10973247 2000
34
Identification of novel USH2A mutations: implications for the structure of USH2A protein. 6 61 54
10909849 2000
35
Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa. 6 54 61
10729113 2000
36
The Usher syndrome in the Lebanese population and further refinement of the USH2A candidate region. 61 6 54
9760205 1998
37
Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa. 54 61 6
9624053 1998
38
Mutations in the myosin VIIA gene cause non-syndromic recessive deafness. 54 61 6
9171832 1997
39
Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients. 61 54 6
8900236 1996
40
The Genetics of Usher Syndrome in the Israeli and Palestinian Populations. 6 61
29490346 2018
41
Electroretinography Reveals Difference in Cone Function between Syndromic and Nonsyndromic USH2A Patients. 6 61
28894305 2017
42
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. 6 61
28944237 2017
43
The combination of vestibular impairment and congenital sensorineural hearing loss predisposes patients to ocular anomalies, including Usher syndrome. 61 6
27743452 2017
44
Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss. 6 61
28472130 2017
45
An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients. 61 6
27460420 2016
46
Compound heterozygous MYO7A mutations segregating Usher syndrome type 2 in a Han family. 61 6
27729122 2016
47
A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa. 6 61
27318125 2016
48
Usher syndrome in Denmark: mutation spectrum and some clinical observations. 61 6
27957503 2016
49
Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa. 61 6
26927203 2016
50
Frequency of Usher syndrome type 1 in deaf children by massively parallel DNA sequencing. 61 6
26791358 2016

Variations for Usher Syndrome

ClinVar genetic disease variations for Usher Syndrome:

6 (show top 50) (show all 4293)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 USH2A NM_007123.5(USH2A):c.779T>G (p.Leu260Ter) SNV Pathogenic 2354 rs121912598 GRCh37: 1:216538300-216538300
GRCh38: 1:216364958-216364958
2 WHRN DFNB31, IVS2DS, G-A, +1 SNV Pathogenic 2691 GRCh37:
GRCh38:
3 USH1C USH1C, IVS5DS, G-A, +1 SNV Pathogenic 5145 GRCh37:
GRCh38:
4 USH1C USH1C, 1-BP DEL, 1220G Deletion Pathogenic 39429 GRCh37:
GRCh38:
5 USH2A NM_206933.3(USH2A):c.4474G>T (p.Glu1492Ter) SNV Pathogenic 224745 rs869312179 GRCh37: 1:216348747-216348747
GRCh38: 1:216175405-216175405
6 USH2A NM_007123.5(USH2A):c.485+3A>T SNV Pathogenic 427861 rs1553258031 GRCh37: 1:216595191-216595191
GRCh38: 1:216421849-216421849
7 USH2A NM_007123.5(USH2A):c.2279_2280del (p.Asn760fs) Deletion Pathogenic 522464 rs1553320542 GRCh37: 1:216420456-216420457
GRCh38: 1:216247114-216247115
8 USH2A NM_206933.3(USH2A):c.9372-1G>A SNV Pathogenic 599145 rs1558111861 GRCh37: 1:215990538-215990538
GRCh38: 1:215817196-215817196
9 USH2A NC_000001.11:g.(215728385_215741374)_(215759844_215766680)dup Duplication Pathogenic 812102 GRCh37: 1:215901727-215940022
GRCh38:
10 USH2A-AS1 , USH2A NM_206933.3(USH2A):c.2983C>T (p.Gln995Ter) SNV Pathogenic 143180 rs527236135 GRCh37: 1:216405305-216405305
GRCh38: 1:216231963-216231963
11 USH2A and overlap with 2 gene(s) NC_000001.10:g.216144119_216591855del447737 Deletion Pathogenic 437432 GRCh37: 1:216144119-216591855
GRCh38: 1:215970777-216418513
12 USH2A and overlap with 2 gene(s) NM_206933.2(USH2A):c.(784+1_785-1)_(5572+1_5573-1)dup Duplication Pathogenic 565301 GRCh37:
GRCh38: 1:216073301-216364952
13 USH2A NM_206933.3(USH2A):c.11389+3A>T SNV Pathogenic 427867 rs753886165 GRCh37: 1:215931934-215931934
GRCh38: 1:215758592-215758592
14 USH2A-AS1 , USH2A NM_206933.3(USH2A):c.3158-2A>G SNV Pathogenic 236533 rs878853404 GRCh37: 1:216380775-216380775
GRCh38: 1:216207433-216207433
15 USH2A NM_206933.3(USH2A):c.11389+1G>A SNV Pathogenic 801610 rs368770647 GRCh37: 1:215931936-215931936
GRCh38: 1:215758594-215758594
16 USH2A NM_206933.3(USH2A):c.9827C>A (p.Ser3276Ter) SNV Pathogenic 801612 rs863224941 GRCh37: 1:215972380-215972380
GRCh38: 1:215799038-215799038
17 USH2A NM_206933.3(USH2A):c.7932G>A (p.Trp2644Ter) SNV Pathogenic 801613 rs1571783742 GRCh37: 1:216062059-216062059
GRCh38: 1:215888717-215888717
18 USH2A NM_007123.5(USH2A):c.402del (p.Cys135fs) Deletion Pathogenic 801623 rs1255535680 GRCh37: 1:216595277-216595277
GRCh38: 1:216421935-216421935
19 USH2A NM_206933.4(USH2A):c.6657+1G>A SNV Pathogenic 812103 rs1571876788 GRCh37: 1:216172228-216172228
GRCh38: 1:215998886-215998886
20 USH2A NM_206933.4(USH2A):c.12067-1G>A SNV Pathogenic 812105 rs397517977 GRCh37: 1:215853719-215853719
GRCh38: 1:215680377-215680377
21 USH2A NM_206933.4(USH2A):c.11699A>G (p.Tyr3900Cys) SNV Pathogenic 812117 rs1386612395 GRCh37: 1:215914729-215914729
GRCh38: 1:215741387-215741387
22 USH2A-AS1 , USH2A NM_206933.4(USH2A):c.3841A>T (p.Arg1281Ter) SNV Pathogenic 932236 GRCh37: 1:216371897-216371897
GRCh38: 1:216198555-216198555
23 USH2A NM_206933.4(USH2A):c.14649del (p.Ile4883fs) Deletion Pathogenic 866663 GRCh37: 1:215821006-215821006
GRCh38: 1:215647664-215647664
24 USH2A NM_206933.4(USH2A):c.4396+2T>G SNV Pathogenic 932237 GRCh37: 1:216363563-216363563
GRCh38: 1:216190221-216190221
25 USH2A NM_206933.3(USH2A):c.7501C>T (p.Gln2501Ter) SNV Pathogenic 560525 rs1558151555 GRCh37: 1:216073510-216073510
GRCh38: 1:215900168-215900168
26 USH2A NM_206933.3(USH2A):c.2809+1G>A SNV Pathogenic 801616 rs759433119 GRCh37: 1:216419926-216419926
GRCh38: 1:216246584-216246584
27 USH2A NM_007123.5(USH2A):c.2534del (p.Leu845fs) Deletion Pathogenic 801617 rs1572088481 GRCh37: 1:216420202-216420202
GRCh38: 1:216246860-216246860
28 USH2A NM_007123.5(USH2A):c.1829A>C (p.His610Pro) SNV Pathogenic 801618 rs1571668556 GRCh37: 1:216465528-216465528
GRCh38: 1:216292186-216292186
29 USH2A NM_206933.4(USH2A):c.10699del (p.Gln3566_Leu3567insTer) Deletion Pathogenic 869481 GRCh37: 1:215955425-215955425
GRCh38: 1:215782083-215782083
30 USH2A NM_206933.3(USH2A):c.11174del (p.Phe3725fs) Deletion Pathogenic 635525 rs1571657875 GRCh37: 1:215933059-215933059
GRCh38: 1:215759717-215759717
31 USH1C NM_153676.4(USH1C):c.36+1G>T SNV Pathogenic 5144 rs1403777293 GRCh37: 11:17565818-17565818
GRCh38: 11:17544271-17544271
32 USH2A-AS1 , USH2A NM_007123.5(USH2A):c.3129dup (p.Val1044fs) Duplication Pathogenic 30723 rs786205115 GRCh37: 1:216390756-216390757
GRCh38: 1:216217414-216217415
33 USH2A NM_206933.3(USH2A):c.8890dup (p.Trp2964fs) Duplication Pathogenic 30724 rs786205116 GRCh37: 1:216019330-216019331
GRCh38: 1:215845988-215845989
34 USH1C NM_153676.4(USH1C):c.2227-1G>A SNV Pathogenic 39428 rs778110397 GRCh37: 11:17523083-17523083
GRCh38: 11:17501536-17501536
35 PCDH15 NM_033056.4(PCDH15):c.394dup (p.Glu132fs) Duplication Pathogenic 65739 rs397515566 GRCh37: 10:56128959-56128960
GRCh38: 10:54369199-54369200
36 USH1C NM_153676.4(USH1C):c.7C>T (p.Arg3Ter) SNV Pathogenic 218193 rs876657624 GRCh37: 11:17565848-17565848
GRCh38: 11:17544301-17544301
37 USH2A NM_007123.5(USH2A):c.4603dup (p.His1535fs) Duplication Pathogenic 801614 rs1572020896 GRCh37: 1:216348617-216348618
GRCh38: 1:216175275-216175276
38 USH2A NM_007123.5(USH2A):c.1312_1327dup (p.Asn443fs) Duplication Pathogenic 801620 rs1415157305 GRCh37: 1:216497510-216497511
GRCh38: 1:216324168-216324169
39 USH2A NM_007123.5(USH2A):c.999_1000dup (p.Arg334fs) Duplication Pathogenic 801621 rs1571703770 GRCh37: 1:216498789-216498790
GRCh38: 1:216325447-216325448
40 USH2A NM_206933.4(USH2A):c.532dup (p.Thr178fs) Duplication Pathogenic 813346 rs1571801788 GRCh37: 1:216591974-216591975
GRCh38: 1:216418632-216418633
41 USH2A NM_206933.4(USH2A):c.13465_13466insTG (p.Gly4489fs) Insertion Pathogenic 917733 GRCh37: 1:215847787-215847788
GRCh38: 1:215674445-215674446
42 PDZD7 NM_001195263.2(PDZD7):c.1012del (p.Ser338fs) Deletion Pathogenic 560723 rs1564634581 GRCh37: 10:102778891-102778891
GRCh38: 10:101019134-101019134
43 USH2A NM_206933.4(USH2A):c.11754G>A (p.Trp3918Ter) SNV Pathogenic 813344 rs1358947010 GRCh37: 1:215901684-215901684
GRCh38: 1:215728342-215728342
44 USH2A NM_206933.4(USH2A):c.1614C>A (p.Cys538Ter) SNV Pathogenic 974622 GRCh37: 1:216495255-216495255
GRCh38: 1:216321913-216321913
45 USH2A-AS1 , USH2A NM_007123.5(USH2A):c.3435del (p.Val1147fs) Deletion Pathogenic 48502 rs397518012 GRCh37: 1:216373345-216373345
GRCh38: 1:216200003-216200003
46 USH2A NM_206933.4(USH2A):c.4405C>T (p.Gln1469Ter) SNV Pathogenic 208625 rs797045113 GRCh37: 1:216348816-216348816
GRCh38: 1:216175474-216175474
47 USH2A-AS1 , USH2A NM_007123.5(USH2A):c.4129_4130TC[4] (p.Asn1379fs) Microsatellite Pathogenic 48512 rs397518015 GRCh37: 1:216370011-216370012
GRCh38: 1:216196669-216196670
48 USH2A NM_206933.4(USH2A):c.11897_12003del (p.Gln3966fs) Deletion Pathogenic 981014 GRCh37: 1:215901435-215901541
GRCh38: 1:215728093-215728199
49 USH2A NM_206933.4(USH2A):c.9371+1G>C SNV Pathogenic 48624 rs41308425 GRCh37: 1:216011332-216011332
GRCh38: 1:215837990-215837990
50 USH2A NM_206933.4(USH2A):c.13342_13347del (p.Asp4448_Ser4449del) Deletion Pathogenic 930726 GRCh37: 1:215847906-215847911
GRCh38: 1:215674564-215674569

Copy number variations for Usher Syndrome from CNVD:

7
# CNVD ID Chromosome 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 15)
# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 10.13 WHRN USH2A USH1C PDZD7 ESPN CIB2
2 cilium GO:0005929 9.92 WHRN PDZD7 CIB2 CEP250 BBS1
3 ciliary basal body GO:0036064 9.89 WHRN USH2A USH1G CEP250 BBS1
4 photoreceptor outer segment GO:0001750 9.83 USH1C PCDH15 MYO7A CIB2 CEP250
5 photoreceptor connecting cilium GO:0032391 9.73 WHRN USH2A USH1G USH1C PDZD7 MYO7A
6 microvillus GO:0005902 9.71 USH1C MYO7A ESPN
7 stereocilium tip GO:0032426 9.71 WHRN USH1C PDZD7 ESPN
8 USH2 complex GO:1990696 9.67 WHRN USH2A PDZD7 ADGRV1
9 periciliary membrane compartment GO:1990075 9.63 WHRN USH2A ADGRV1
10 stereocilia ankle link GO:0002141 9.62 WHRN USH2A PDZD7 ADGRV1
11 stereocilium GO:0032420 9.61 WHRN USH1C PDZD7 PCDH15 MYO7A ESPN
12 stereocilium bundle GO:0032421 9.55 WHRN USH2A
13 stereocilia ankle link complex GO:0002142 9.55 WHRN USH2A USH1C PDZD7 ADGRV1
14 stereocilium membrane GO:0060171 9.51 USH2A ADGRV1
15 photoreceptor inner segment GO:0001917 9.28 WHRN USH2A USH1G USH1C PDZD7 MYO7A

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.88 USH2A MYO7A CDH23 BBS1 ADGRV1
2 sensory perception of light stimulus GO:0050953 9.76 WHRN USH2A USH1G USH1C PCDH15 MYO7A
3 inner ear receptor cell stereocilium organization GO:0060122 9.73 WHRN USH1G USH1C MYO7A CDH23 ADGRV1
4 equilibrioception GO:0050957 9.72 USH1G USH1C PCDH15 MYO7A CDH23
5 establishment of protein localization GO:0045184 9.71 WHRN USH2A PDZD7 ADGRV1
6 inner ear morphogenesis GO:0042472 9.7 USH1G USH1C MYO7A
7 inner ear development GO:0048839 9.69 PCDH15 MYO7A ADGRV1
8 auditory receptor cell stereocilium organization GO:0060088 9.63 WHRN PDZD7 MYO7A
9 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.61 WHRN PDZD7 ADGRV1
10 photoreceptor cell maintenance GO:0045494 9.56 USH2A USH1G USH1C PCDH15 CIB2 CDH23
11 inner ear auditory receptor cell differentiation GO:0042491 9.54 USH1C MYO7A
12 inner ear receptor cell differentiation GO:0060113 9.54 USH2A USH1G MYO7A
13 maintenance of animal organ identity GO:0048496 9.49 USH2A ADGRV1
14 sensory perception of sound GO:0007605 9.32 WHRN USH2A USH1G USH1C PDZD7 PCDH15

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

# Name GO ID Score Top Affiliating Genes
1 spectrin binding GO:0030507 8.8 USH1G USH1C MYO7A

Sources for Usher Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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