MCID: USH001
MIFTS: 53

Usher Syndrome malady

Eye diseases, Ear diseases categories

Summaries for Usher Syndrome

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21Genetics Home Reference, 42NIH Rare Diseases, 33MedlinePlus, 63Wikipedia, 46OMIM, 32MalaCards
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MedlinePlus:33 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, eye and bone, 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:42 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 disease-causing gene in each cell have mutations. last updated: 3/3/2014

Wikipedia:63 Usher syndrome is a relatively rare genetic disorder caused by a mutation in any one of 10 genes... more...

Description from OMIM:46 605472, 276904, 602083, 276900, 601067 276901, 276902, 606943, 611383 more

Aliases & Classifications for Usher Syndrome

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Sources:
8Disease Ontology, 63Wikipedia, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 33MedlinePlus, 60UMLS, 46OMIM, 34MeSH
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Classifications:

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


Aliases & Descriptions:

usher syndrome 8 63 42 21 10 44 33 60
retinitis pigmentosa-deafness syndrome 63 42 22 21
dystrophia retinae pigmentosa-dysostosis syndrome 63 42 21
deafness-retinitis pigmentosa syndrome 63 42 21
graefe-usher syndrome 63 42 21
hallgren syndrome 63 42 21
usher's syndrome 42 20 21
retinitis pigmentosa-deafness-ataxia syndrome 60
retinitis pigmentosa 21, formerly 42
retinitis pigmentosa 8, formerly 42
rp21, formerly 42
rp8, formerly 42


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Disease Ontology8 DOID:0050439
MeSH34 D052245

Related Diseases for Usher Syndrome

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17GeneCards, 18GeneDecks
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Diseases in the Usher Syndrome Type 2a family:

usher syndrome Usher Syndrome Type I
Usher Syndrome Type Ii 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 1g
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 67)
idRelated DiseaseScoreTop Affiliating Genes
1usher syndrome type i30.6PCDH15, CDH23, MYO7A, USH1G, USH1C
2usher syndrome, type 2c30.6FEB4, GPR98
3nonsyndromic deafness30.6USH1C, DFNB31, MYO7A, CDH23, PCDH15
4usher syndrome type 2d30.5USH2A, DFNB31, GPR98
5usher syndrome, type 1d/f digenic30.2CDH23, PCDH15
6sensorineural hearing loss29.9MYO7A, USH2A
7retinitis10.7
8usher syndrome type 2a10.6
9retinitis pigmentosa10.5
10usher syndrome, type 1b10.5
11usher syndrome, type 1c10.5
12usher syndrome, type 1f10.5
13usher syndrome type 1g10.4
14usher syndrome, type 1d10.4
15usher syndrome type 3a10.4
16pemphigus10.4
17usher syndrome, type 1e10.4
18usher syndrome type 310.4
19retinal disease10.3
20usher syndrome type ii10.3
21usher syndrome, type 2b10.3
22usher syndrome type 1h10.3
23usher syndrome type 3b10.3
24choroideremia10.2
25uveitis10.2
26usher syndrome type 1j10.2
27usher syndrome, type 2c, gpr98/pdzd7 digenic10.2
28fuchs' heterochromic uveitis10.1
29lupus erythematosus10.1
30usher syndrome type 1k10.1
31usher syndrome, type ik10.1
32retinal disease in usher syndrome type iia, modifier of10.1
33usher syndrome, type ij10.1
34pemphigus erythematosus10.1
35alstrom syndrome10.1
36blindness10.0PCDH15, MYO7A
37rhyns syndrome10.0CLRN1, PCDH15, CDH23, MYO7A, DFNB31, USH2A
38retinal degeneration10.0USH1C, USH2A, MYO7A, CDH23
39dfnb110.0MYO7A
40dandy-walker syndrome10.0
41bardet-biedl syndrome10.0
42leber congenital amaurosis10.0
43autosomal recessive nonsyndromic deafness10.0
44bronchiectasis10.0
45neuronitis10.0
46macular holes10.0
47hyperinsulinism10.0
48adult syndrome10.0
49n syndrome10.0
50adenoma10.0

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



Diseases related to usher syndrome

Clinical Features for Usher Syndrome

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46OMIM
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Clinical features from OMIM:

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

Drugs & Therapeutics for Usher Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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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

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20GeneTests, 22GTR
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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

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32MalaCards
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MalaCards organs/tissues related to Usher Syndrome:

32
Retina, Eye, Bone

Animal Models for Usher Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Usher Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537710.1GPR98, USH1C, USH1G, USH2A, DFNB31, MYO7A
2MP:000538610.0USH1G, DFNB31, OMP, MYO7A, CDH23, PCDH15
3MP:00053919.9PDC, USH1C, USH1G, USH2A, DFNB31, MYO7A
4MP:00036319.6USH2A, USH1G, USH1C, PDC, DFNB31, OMP

Publications for Usher Syndrome

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50PubMed
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Articles related to Usher Syndrome:

(show top 50)    (show all 367)
idTitleAuthorsYear
1
The giant spectrin I^V couples the molecular motors to phototransduction and Usher syndrome type I proteins along their trafficking route. (23704327)
2013
2
Labyrinthitis ossificans in a cochlear implant patient with Usher syndrome. (23455060)
2013
3
Gene repair of an Usher syndrome causing mutation by zinc-finger nuclease mediated homologous recombination. (22661463)
2012
4
Children with Usher syndrome: mental and behavioral disorders. (22449032)
2012
5
USH1K, a novel locus for type I Usher syndrome, maps to chromosome 10p11.21-q21.1. (22718019)
2012
6
Pigmentary glaucoma accompanied by Usher syndrome. (21467951)
2012
7
Mutation screening of the PCDH15 gene in Spanish patients with Usher syndrome type I. (22815625)
2012
8
Gene therapy strategies for Usher syndrome type 1B. (22183338)
2012
9
Myosin VIIa and sans localization at stereocilia upper tip-link density implicates these Usher syndrome proteins in mechanotransduction. (21709241)
2011
10
Novel mutations of MYO7A and USH1G in Israeli Arab families with Usher syndrome type 1. (22219650)
2011
11
Phenotypes in defined genotypes including siblings with Usher syndrome. (21174530)
2011
12
Treatment of enamel hypoplasia in a patient with Usher syndrome. (21804060)
2011
13
Molecular epidemiology of Usher syndrome in Italy. (21738395)
2011
14
Identification of large rearrangements of the PCDH15 gene by combined MLPA and a CGH: large duplications are responsible for Usher syndrome. (20538994)
2010
15
Comorbid bipolar disorder and Usher syndrome. (20694130)
2010
16
Nasal epithelial cells are a reliable source to study splicing variants in Usher syndrome. (20513143)
2010
17
Usher syndrome associated with Fuchs' heterochromic uveitis. (20574746)
2010
18
Usher syndrome and psychiatric symptoms: a challenge in psychiatric management. (19270624)
2009
19
Expression of cadherin 23 isoforms is not conserved: implications for a mouse model of Usher syndrome type 1D. (19756182)
2009
20
Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II. (19881469)
2009
21
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
22
Long-term ophthalmic health care in Usher syndrome type I from an ICF perspective. (19280439)
2009
23
UMD-USHbases: a comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genes. (18484607)
2008
24
Usher syndrome: animal models, retinal function of Usher proteins, and prospects for gene therapy. (17936325)
2008
25
MYO7A mutation screening in Usher syndrome type I patients from diverse origins. (17361009)
2007
26
Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II. (17085681)
2006
27
Bilateral macular holes in usher syndrome. (16622392)
2006
28
Molecular genetic study of Usher syndrome in Spain]. (16240916)
2005
29
Usherin, the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cells. (16301217)
2005
30
Identification of a rat model for usher syndrome type 1B by N-ethyl-N-nitrosourea mutagenesis-driven forward genetics. (15965244)
2005
31
Novel mutations in MYO7A and USH2A in Usher syndrome. (15823922)
2005
32
Kinetics of visual field loss in Usher syndrome Type II. (14985291)
2004
33
Immunohistochemistry and reverse transcriptase-polymerase chain reaction as methods for diagnostic determination of usher syndrome type IIa. (15235367)
2004
34
Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III. (14569126)
2003
35
Genetic heterogeneity of Usher syndrome. (10868209)
2000
36
A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C. (10973247)
2000
37
Molecular genetics of Usher syndrome. (11212353)
1999
38
A mutation (2314delG) in the Usher syndrome type IIA gene: high prevalence and phenotypic variation. (10090909)
1999
39
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
40
Map refinement of the Usher syndrome type 1B gene, MYO7A, relative to 11q13.5 microsatellite markers. (9761396)
1998
41
Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB. (9002678)
1997
42
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
43
Construction of a YAC contig encompassing the Usher syndrome type 1C and familial hyperinsulinism loci on chromosome 11p14-15.1. (8828039)
1996
44
Defective myosin VIIA gene responsible for Usher syndrome type 1B. (7870171)
1995
45
Ophthalmologic findings in Usher syndrome type 2A. (8749051)
1995
46
A gene for Usher syndrome type I (USH1A) maps to chromosome 14q. (1478676)
1992
47
Usher syndrome: definition and estimate of prevalence from two high-risk populations. (6885960)
1983
48
Senear-Usher syndrome and internal malignancy. (4557734)
1972
49
A case for diagnosis: Senear-Usher syndrome? (14867873)
1951
50
Senear-Usher syndrome. (18898890)
1948

Genetic Variations for Usher Syndrome

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Expression for genes affiliated with Usher Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Usher Syndrome

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Pathways for genes affiliated with Usher Syndrome

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Compounds for genes affiliated with Usher Syndrome

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GO Terms for genes affiliated with Usher Syndrome

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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

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet