MCID: USH001
MIFTS: 51

Usher Syndrome malady

Eye, Ear categories

Summaries for Usher Syndrome

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 34MedlinePlus, 64Wikipedia, 47OMIM, 33MalaCards
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MedlinePlus:34 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

MalaCards: Usher Syndrome, also known as retinitis pigmentosa-deafness syndrome, is related to usher syndrome type i and usher syndrome, type 2c. An important gene associated with Usher Syndrome is USH2A (Usher syndrome 2A (autosomal recessive, mild)). Affiliated tissues include retina, b cells and bronchial epithelium, and related mouse phenotypes are hearing/vestibular/ear and behavior/neurological.

Genetics Home Reference:21 Usher syndrome is a condition characterized by hearing loss or deafness and progressive vision loss. 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 of Usher syndrome, vision is further impaired by clouding of the lens of the eye (cataracts). Many people with retinitis pigmentosa retain some central vision throughout their lives, however.

NIH Rare Diseases:43 Usher syndrome is a genetic condition characterized by hearing loss or deafness and progressive vision loss due to retinitis pigmentosa.  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, which means both copies of the gene in each cell have mutations. last updated: 9/20/2011

Wikipedia:64 Usher syndrome is a relatively rare genetic disorder that is associated with a mutation in any one of 10... more...

Description from OMIM:47 605472, 276904, 602083, 276900, 601067 276901, 276902, 606943, 611383 more

Aliases & Classifications for Usher Syndrome

Sources:
8Disease Ontology, 64Wikipedia, 43NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 45Novoseek, 34MedlinePlus, 61UMLS, 22GTR, 20GeneTests, 47OMIM, 35MeSH
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Eye, Ear


Aliases & Descriptions:

usher syndrome 8 64 43 21 10 45 34 61
retinitis pigmentosa-deafness syndrome 64 43 22 21
dystrophia retinae pigmentosa-dysostosis syndrome 64 43 21
deafness-retinitis pigmentosa syndrome 64 43 21
graefe-usher syndrome 64 43 21
hallgren syndrome 64 43 21
usher's syndrome 43 20 21
retinitis pigmentosa-deafness-ataxia syndrome 61
retinitis pigmentosa 21, formerly 43
retinitis pigmentosa 8, formerly 43
rp21, formerly 43
rp8, formerly 43


External Ids:

Disease Ontology8 DOID:0050439
MeSH35 D052245

Related Diseases for Usher Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the usher syndrome type 1g family:

usher syndrome usher syndrome type i
usher syndrome type ii usher syndrome type 2a
usher syndrome, type 2b usher syndrome, type 1c
usher syndrome, type 1d usher syndrome, type 1e
usher syndrome, type 1f usher syndrome, type 2c
usher syndrome type 3 usher syndrome, type 1b
usher syndrome type 1h usher syndrome type 3b
usher syndrome type 1j usher syndrome type 1k
usher syndrome type 2d usher syndrome type 3a
usher syndrome, type ik usher syndrome, type ij

Diseases related to Usher Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 60)
idRelated DiseaseScoreTop Affiliating Genes
1usher syndrome type i31.3PCDH15, CDH23, MYO7A, USH1G, USH1C
2usher syndrome, type 2c30.6FEB4, GPR98
3usher syndrome type 2d30.5USH2A, DFNB31, GPR98
4dfnb130.5MYO7A
5usher syndrome, type 1d/f digenic30.2CDH23, PCDH15
6sensorineural hearing loss30.0MYO7A, USH2A
7n syndrome10.8
8usher syndrome type 2a10.6
9retinitis pigmentosa10.6
10usher syndrome, type 1b10.5
11usher syndrome, type 1c10.5
12usher syndrome, type 1f10.5
13usher syndrome type 1g10.5
14usher syndrome, type 1d10.4
15usher syndrome type 3a10.4
16pemphigus10.4
17usher syndrome, type 1e10.4
18usher syndrome type 310.4
19pemphigus erythematosus10.4
20micro syndrome10.4
21char syndrome10.4
22usher syndrome type 3b10.3
23usher syndrome type ii10.3
24usher syndrome, type 2b10.3
25usher syndrome type 1h10.3
26uveitis10.2
27usher syndrome type 1j10.2
28usher syndrome, type 2c, gpr98/pdzd7 digenic10.2
29fuchs' heterochromic uveitis10.1
30german syndrome10.1
31usher syndrome type 1k10.1
32usher syndrome, type ik10.1
33retinal disease in usher syndrome type iia, modifier of10.1
34usher syndrome, type ij10.1
35alstr�m syndrome10.1
36dandy-walker syndrome10.0
37bardet-biedl syndrome10.0
38leber congenital amaurosis10.0
39autosomal recessive nonsyndromic deafness10.0
40bronchiectasis10.0
41macular holes10.0
42hyperinsulinism10.0
43adult syndrome10.0
44adenoma10.0
45asthma10.0
46bipolar disorder10.0
47vestibular disease10.0
48charge syndrome10.0
49familial hyperinsulinism10.0
50short syndrome10.0

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



Diseases related to usher syndrome

Clinical Features for Usher Syndrome

Sources:
47OMIM
See all sources

Clinical features from OMIM:

605472,276904,602083,276900,601067,276901,276902,606943,611383

Drugs & Therapeutics for Usher Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Usher Syndrome

Drug clinical trials:

Search ClinicalTrials for Usher Syndrome

Search NIH Clinical Center for Usher Syndrome

Search CenterWatch for Usher Syndrome

Genetic Tests for Usher Syndrome

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Usher Syndrome:

id Genetic test Affiliating Genes
1 Usher Syndrome Multi-gene Panels20
2 Retinitis Pigmentosa-deafness Syndrome22

Anatomical Context for Usher Syndrome

Sources:
33MalaCards
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MalaCards organs/tissues related to Usher Syndrome:

33
Retina, B cells, Bronchial epithelium

Animal Models for Usher Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Usher Syndrome

Sources:
51PubMed
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Articles related to Usher Syndrome:

(show top 50)    (show all 370)
idTitleAuthorsYear
1
Heterogeneity in phenotype of usher-congenital hyperinsulinism syndrome: hearing loss, retinitis pigmentosa, and hyperinsulinemic hypoglycemia ranging from severe to mild with conversion to diabetes. (23150283)
2013
2
The giant spectrin I^V couples the molecular motors to phototransduction and Usher syndrome type I proteins along their trafficking route. (23704327)
2013
3
Natural History and Retinal Structure in Patients with Usher Syndrome Type 1 Owing to MYO7A Mutation. (24199935)
2013
4
Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families. (23737954)
2013
5
A case of senear-usher syndrome. (23919039)
2013
6
Labyrinthitis ossificans in a cochlear implant patient with Usher syndrome. (23455060)
2013
7
Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapy. (22009552)
2012
8
Current understanding of usher syndrome type II. (22201796)
2012
9
Mutation screening of the PCDH15 gene in Spanish patients with Usher syndrome type I. (22815625)
2012
10
Myosin VIIa and sans localization at stereocilia upper tip-link density implicates these Usher syndrome proteins in mechanotransduction. (21709241)
2011
11
Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis. (21569298)
2011
12
Clinical utility gene card for: Usher syndrome. (21697857)
2011
13
Phenotypes in defined genotypes including siblings with Usher syndrome. (21174530)
2011
14
Alteration of rod and cone function in children with Usher syndrome. (20544672)
2011
15
Treatment of enamel hypoplasia in a patient with Usher syndrome. (21804060)
2011
16
Molecular epidemiology of Usher syndrome in Italy. (21738395)
2011
17
Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa. (20507924)
2010
18
Usher syndrome. (20163002)
2010
19
Comorbid bipolar disorder and Usher syndrome. (20694130)
2010
20
Usher syndrome associated with Fuchs' heterochromic uveitis. (20574746)
2010
21
Usher syndrome type 1: early detection of electroretinographic changes. (19006676)
2009
22
Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II. (19881469)
2009
23
Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15. (19107147)
2009
24
Long-term ophthalmic health care in Usher syndrome type I from an ICF perspective. (19280439)
2009
25
Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II. (18273898)
2008
26
Usher syndrome: animal models, retinal function of Usher proteins, and prospects for gene therapy. (17936325)
2008
27
Analysis of MYO7A in a Moroccan family with Usher syndrome type 1B: novel loss-of-function mutation and non-pathogenicity of p.Y1719C. (17960123)
2007
28
Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease. (16545802)
2006
29
Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II. (17085681)
2006
30
Characterization of vestibular dysfunction in the mouse model for Usher syndrome 1F. (15952048)
2005
31
Identification of a rat model for usher syndrome type 1B by N-ethyl-N-nitrosourea mutagenesis-driven forward genetics. (15965244)
2005
32
The Mass1frings mutation underlies early onset hearing impairment in BUB/BnJ mice, a model for the auditory pathology of Usher syndrome IIC. (15820310)
2005
33
Clinical and genetic linkage analysis of a large Venezuelan kindred with Usher syndrome. (15236894)
2004
34
Usher syndrome and cochlear implantation. (12621335)
2003
35
The molecular genetics of Usher syndrome. (12786748)
2003
36
From gene to disease; genetic causes of hearing loss and visual impairment sometimes accompanied by vestibular problems (Usher syndrome)]. (12510399)
2002
37
Paternal uniparental heterodisomy with partial isodisomy of chromosome 1 in a patient with retinitis pigmentosa without hearing loss and a missense mutation in the Usher syndrome type II gene USH2A. (12427073)
2002
38
Histopathologic features of the temporal bone in usher syndrome type I. (10922238)
2000
39
The cochlear nuclei in two patients with Usher syndrome type I. (10595664)
1999
40
Diagnosis and treatment of a severe psychotic illness in a man with dual severe sensory impairments caused by the presence of Usher syndrome. (10546968)
1999
41
Assembly of a high-resolution map of the Acadian Usher syndrome region and localization of the nuclear EF-hand acidic gene. (9639681)
1998
42
Isolation of a gene encoding a novel member of the nuclear receptor superfamily from the critical region of Usher syndrome type IIa at 1q41. (9676434)
1998
43
Map refinement of the Usher syndrome type 1B gene, MYO7A, relative to 11q13.5 microsatellite markers. (9761396)
1998
44
Isolation of a novel human homologue of the gene coding for echinoderm microtubule-associated protein (EMAP) from the Usher syndrome type 1a locus at 14q32. (9226380)
1997
45
Mapping of the choroideremia-like (CHML) gene at 1q42-qter and mutation analysis in patients with Usher syndrome type II. (8188272)
1994
46
Usher Syndrome Type I (20301442)
1993
47
Linkage studies of Usher syndrome: analysis of an Acadian kindred in Louisiana. (3162715)
1988
48
Estimation of prognosis and prevalence of retinitis pigmentosa and Usher syndrome in Norway. (3594933)
1987
49
Usher syndrome: definition and estimate of prevalence from two high-risk populations. (6885960)
1983
50
Senear-Usher syndrome. (18228885)
1949

Genetic Variations for Usher Syndrome

Expression for genes affiliated with Usher Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Usher Syndrome

Search GEO for disease gene expression data for Usher Syndrome.

Pathways for genes affiliated with Usher Syndrome

Compounds for genes affiliated with Usher Syndrome

GO Terms for genes affiliated with Usher Syndrome

Sources:
16Gene Ontology
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Cellular components related to Usher Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1synapseGO:04520210.3PCDH15, MYO7A, USH1C
2stereociliumGO:03242010.3PCDH15, CDH23, MYO7A, DFNB31, USH1C
3photoreceptor inner segmentGO:00191710.3PDC, USH1C, CIB2, MYO7A
4stereocilia ankle link complexGO:00214210.2USH2A, DFNB31, GPR98
5photoreceptor outer segmentGO:00175010.0PCDH15, MYO7A, USH1C, PDC

Biological processes related to Usher Syndrome according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1equilibrioceptionGO:05095710.4USH1C, CLRN1, PCDH15, CDH23, MYO7A, USH1G
2maintenance of organ identityGO:04849610.4GPR98, USH2A
3inner ear receptor stereocilium organizationGO:06012210.4GPR98, DFNB31
4photoreceptor cell maintenanceGO:04549410.3GPR98, CLRN1, PCDH15, CDH23, CIB2, USH2A
5response to stimulusGO:05089610.2USH2A, CDH23, CLRN1
6sensory perception of light stimulusGO:05095310.2USH1C, USH1G, USH2A, DFNB31, MYO7A, CDH23
7visual perceptionGO:00760110.2PDC, USH2A, CHML, MYO7A, CDH23, CLRN1
8sensory perception of soundGO:00760510.2GPR98, CLRN1, PCDH15, CDH23, MYO7A, DFNB31
9inner ear receptor cell differentiationGO:06011310.1USH2A, USH1G

Molecular functions related to Usher Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1calcium ion bindingGO:00550910.1GPR98, PCDH15, CDH23, EML1, CIB2
2myosin bindingGO:01702210.1USH2A, GPR98
3protein bindingGO:0055159.9USHBP1, USH1C, USH1G, USH2A, CIB2, DFNB31

Products for genes affiliated with Usher Syndrome

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Sources for Usher Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet