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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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:

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

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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, CLRN1, PCDH15, CDH23, MYO7A, DFNB31
2MP:000538610.0CLRN1, PCDH15, CDH23, MYO7A, OMP, DFNB31
3MP:00053919.9GPR98, CLRN1, PCDH15, CDH23, MYO7A, DFNB31
4MP:00036319.6PDC, USH1C, GPR98, CLRN1, PCDH15, CDH23

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
A Novel Frameshift Mutation of the USH2A Gene in a Korean Patient with Usher Syndrome Type II. (23526569)
2013
2
Two novel disease-causing mutations in the CLRN1 gene in patients with Usher syndrome type 3. (23304067)
2012
3
Fundus autofluorescence and optical coherence tomography in relation to visual function in Usher syndrome type 1 and 2. (23000274)
2012
4
Mutational frequencies in usherin(USH2A gene) in 26 Colombian individuals with Usher syndrome type II]. (22159486)
2011
5
Seven novel mutations in the long isoform of the USH2A gene in Chinese families with nonsyndromic retinitis pigmentosa and Usher syndrome Type II. (21686329)
2011
6
Microarray-based mutation analysis of 183 Spanish families with Usher syndrome. (19683999)
2010
7
Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children. (20613545)
2010
8
Homozygous disruption of PDZD7 by reciprocal translocation in a consanguineous family: a new member of the Usher syndrome protein interactome causing congenital hearing impairment. (19028668)
2009
9
Characterization of the Drosophila ortholog of the human Usher Syndrome type 1G protein sans. (19270738)
2009
10
A large deletion in GPR98 causes type IIC Usher syndrome in male and female members of an Iranian family. (19357116)
2009
11
Secondary vasoproliferative retinal tumor associated with Usher syndrome type 1. (19022692)
2009
12
Cochlear implantation in individuals with Usher type 1 syndrome. (18395802)
2008
13
Factitious Usher syndrome: a new type of factitious disorder. (18679542)
2008
14
Retinal phenotype of an X-linked pseudo-Usher syndrome in association with the G173R mutation in the RPGR gene. (18188948)
2008
15
Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism. (18463160)
2008
16
Lentiviral gene replacement therapy of retinas in a mouse model for Usher syndrome type 1B. (17268537)
2007
17
Development of a genotyping microarray for Usher syndrome. (16963483)
2007
18
The changing face of Usher syndrome: clinical implications. (17365059)
2007
19
Visual impairment in Finnish Usher syndrome type III. (16445437)
2006
20
Tractional retinal detachment in Usher syndrome type II. (16033369)
2005
21
Early diagnosis of Usher Syndrome Type 1 now possible. (14653256)
2003
22
Psychosis in a patient with Usher syndrome: a case report. (15562754)
2003
23
Hearing impairment in Usher syndrome type II. (14535570)
2003
24
Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin. (12588794)
2003
25
Usher syndrome type III: revised genomic structure of the USH3 gene and identification of novel mutations. (12145752)
2002
26
Clinical presentation of DFNB12 and Usher syndrome type 1D. (12408077)
2002
27
Hearing loss in Usher syndrome type II is nonprogressive. (12498372)
2002
28
The Usher syndrome proteins cadherin 23 and harmonin form a complex by means of PDZ-domain interactions. (12407180)
2002
29
Prevalence and geographical distribution of Usher syndrome in Germany. (12107518)
2002
30
Spectrum of mutations in USH2A in British patients with Usher syndrome type II. (11311042)
2001
31
Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F. (11487575)
2001
32
Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3. (11524702)
2001
33
Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F. (11398101)
2001
34
Early diagnosis of Usher syndrome in children. (11190026)
2000
35
Genetic heterogeneity of Usher syndrome type II: localisation to chromosome 5q. (10745043)
2000
36
The usher syndromes. (10704190)
1999
37
A novel locus for Usher syndrome type II, USH2B, maps to chromosome 3 at p23-24.2. (10234513)
1999
38
Epidemiology of Usher syndrome in Valencia and Spain. (15178965)
1998
39
Volumetric neuroimaging in Usher syndrome: evidence of global involvement. (9738858)
1998
40
The Usher syndrome in the Lebanese population and further refinement of the USH2A candidate region. (9760205)
1998
41
Ala397Asp mutation of myosin VIIA gene segregating in a Spanish family with type-Ib Usher syndrome. (9703432)
1998
42
Giant retinal tear in Usher syndrome type II: coincidence or association? (9564703)
1998
43
Molecular cloning and domain structure of human myosin-VIIa, the gene product defective in usher syndrome 1B. (8884267)
1996
44
The construction of a yeast artificial chromosome (YAC) contig in the vicinity of the Usher syndrome type IIa (USH2A) gene in 1q41. (8661107)
1996
45
Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type 1B. (7568224)
1995
46
Localization of Usher syndrome type II to chromosome 1q. (2347588)
1990
47
Usher syndrome in four Norwegian counties. (3757293)
1986
48
Current screening procedures for the Usher syndrome at residential schools for the deaf. (7072568)
1982
49
Immunopathological investigations in the Senear-Usher syndrome (coexistence of pemphigus and lupus erythematosus). (4869676)
1968
50
A case for diagnosis: dermatitis herpetiformis? Senear-Usher syndrome? (14829074)
1951

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, USH1C, DFNB31, MYO7A, CDH23
3photoreceptor inner segmentGO:00191710.3PDC, USH1C, CIB2, MYO7A
4stereocilia ankle link complexGO:00214210.2GPR98, USH2A, DFNB31
5photoreceptor outer segmentGO:00175010.0PCDH15, PDC, USH1C, MYO7A

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:01702210.1GPR98, USH2A
3protein bindingGO:0055159.9EML1, GPR98, PDZD7, USHBP1, USH1C, USH1G

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