MCID: USH001
MIFTS: 55

Usher Syndrome malady

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

Aliases & Classifications for Usher Syndrome

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Sources:
10Disease Ontology, 68Wikipedia, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 36MeSH, 24GTR, 35MedlinePlus, 65UMLS, 42NCIt, 59SNOMED-CT, 66UMLS via Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet
See all MalaCards sources

Aliases & Descriptions for Usher Syndrome:

Name: Usher Syndrome 10 68 45 22 23 47 12 51 35 65
Retinitis Pigmentosa-Deafness Syndrome 68 45 23 51 24
Dystrophia Retinae Pigmentosa-Dysostosis Syndrome 68 45 23
Deafness-Retinitis Pigmentosa Syndrome 68 45 23
Graefe-Usher Syndrome 68 45 23
Hallgren Syndrome 68 45 23
Usher's Syndrome 45 23
 
Retinitis Pigmentosa 21, Formerly 45
Retinitis Pigmentosa 8, Formerly 45
Usher Syndromes 36
Rp21, Formerly 45
Rp8, Formerly 45
Ush 51

Characteristics:

Orphanet epidemiological data:

51
usher syndrome:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

Classifications:



External Ids:

Disease Ontology10 DOID:0050439
MeSH36 D052245
NCIt42 C85217
Orphanet51 886
SNOMED-CT59 57838006, 73119000
UMLS via Orphanet66 C0271097
ICD10 via Orphanet28 H35.5
MESH via Orphanet37 D052245
UMLS65 C0271097, C1568248, C1568249 C2931205, more

Summaries for Usher Syndrome

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MedlinePlus:35 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 based summary: Usher Syndrome, also known as retinitis pigmentosa-deafness syndrome, is related to usher syndrome, type 2a and usher syndrome type 1k, and has symptoms including sensorineural hearing impairment, visual impairment and abnormal electroretinogram. An important gene associated with Usher Syndrome is MT-TS2 (Mitochondrially Encoded TRNA Serine 2 (AGU/C)). Affiliated tissues include retina, eye and thyroid, and related mouse phenotypes are integument and behavior/neurological.

Disease Ontology:10 A syndrome characterized by a combination of hearing loss and visual impairment.

Genetics Home Reference:23 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:45 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:68 Usher syndrome is a relatively rare genetic disorder caused by a mutation in any one of at least 11... 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 Ii Usher Syndrome, Type 2b
Usher Syndrome Type 1h Usher Syndrome Type 1j
Usher Syndrome Type 1k

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

(show top 50)    (show all 78)
idRelated DiseaseScoreTop Affiliating Genes
1usher syndrome, type 2a33.5PDZD7, USH2A
2usher syndrome type 1k32.5CIB2, DFNB31, MYO7A
3usher syndrome, type 1b12.4
4usher syndrome, type 3a12.3
5usher syndrome, type 1d12.3
6usher syndrome, type 1c12.3
7usher syndrome, type 1f12.2
8usher syndrome, type 1g12.2
9usher syndrome, type 2c12.2
10osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome12.1
11usher syndrome, type 2d12.1
12usher syndrome type 3b12.1
13usher syndrome type ii12.1
14usher syndrome, type ij12.1
15usher syndrome, type ik12.0
16usher syndrome, type 2b11.9
17usher syndrome type 1j11.9
18usher syndrome type 1h11.8
19pemphigus erythematosus11.4
20alstrom syndrome10.9
21retinitis pigmentosa10.8
22retinitis10.5
23polycystic kidney disease10.3
24dhdds-cdg10.2MYO7A, PCDH15
25deafness, autosomal recessive 18a10.2MYO7A, USH1C, USH1G
26pemphigus10.2
27retinitis pigmentosa 6110.1CLRN1, MT-TS2
28deafness, autosomal recessive 1210.1CDH23, PCDH15, USH1C
29nonsyndromic deafness10.0
30uveitis10.0
31retinal disease10.0
32trichohepatoenteric syndrome 110.0ADGRV1, PDZD7
33pulmonary tuberculosis10.0CDH23, MYO7A, USH1C, USH2A
34choroideremia10.0
35retinal degeneration10.0
36deafness, autosomal recessive 239.9MYO7A, PCDH15, USH1C, USH1G
37bipolar disorder9.9
38ciliopathy9.9
39lupus erythematosus9.9
40fuchs' heterochromic uveitis9.9
41pyeloureteritis cystica9.8CDH23, MYO7A, PCDH15, USH1C
42intermittent squint9.8CDH23, PCDH15, USH1C, USH2A
43schizophrenia9.7
44asthma9.7
45charge syndrome9.7
46cataract9.7
47leber congenital amaurosis9.7
48pemphigus foliaceus9.7
49sensorineural hearing loss9.7
50choroiditis9.7

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



Diseases related to usher syndrome

Symptoms for Usher Syndrome

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Symptoms:

 51 (show all 32)
  • retinitis pigmentosa/retinal pigmentary changes
  • visual loss/blindness/amblyopia
  • night blindness/hemeralopia
  • abnormal erg/electroretinogram/electroretinography
  • abnormal visual field/hemianopsia/hemianopia/scotoma/visual peripheral rim
  • structural anomalies of inner ear/cochlea/vestible/semicircular canals
  • sensorineural deafness/hearing loss
  • autosomal recessive inheritance
  • cataract/lens opacification
  • hypermetropia
  • myopia
  • ataxia/incoordination/trouble of the equilibrium
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • astigmatism
  • nystagmus
  • complete/partial microdontia
  • enamel anomaly
  • dental staining anomaly/spotted teeth/erythrodontia
  • multiple caries
  • tinnitus
  • hyperacusia
  • cardiomyopathy/hypertrophic/dilated
  • functional anomalies of the cardio-circulatory system
  • sterility/hypofertility
  • cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy
  • cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia
  • delirium/hallucination
  • humour troubles/anxiety/depression/apathy/euphoria/irritability
  • psychosis/schizophrenia/maniac disorder
  • myopathy
  • abnormal muscle biopsy/muscle enzymes/cpk/ldh/aldolase/creatin phosphokinase
  • abnormal emg/electromyogram/electropmyography

HPO human phenotypes related to Usher Syndrome:

(show all 27)
id Description Frequency HPO Source Accession
1 sensorineural hearing impairment hallmark (90%) HP:0000407
2 visual impairment hallmark (90%) HP:0000505
3 abnormal electroretinogram hallmark (90%) HP:0000512
4 nyctalopia hallmark (90%) HP:0000662
5 visual field defect hallmark (90%) HP:0001123
6 abnormality of retinal pigmentation hallmark (90%) HP:0007703
7 cataract typical (50%) HP:0000518
8 hypermetropia typical (50%) HP:0000540
9 myopia typical (50%) HP:0000545
10 incoordination typical (50%) HP:0002311
11 cognitive impairment typical (50%) HP:0100543
12 decreased fertility occasional (7.5%) HP:0000144
13 tinnitus occasional (7.5%) HP:0000360
14 astigmatism occasional (7.5%) HP:0000483
15 nystagmus occasional (7.5%) HP:0000639
16 carious teeth occasional (7.5%) HP:0000670
17 abnormality of dental enamel occasional (7.5%) HP:0000682
18 microdontia occasional (7.5%) HP:0000691
19 hallucinations occasional (7.5%) HP:0000738
20 hypertrophic cardiomyopathy occasional (7.5%) HP:0001639
21 cerebral cortical atrophy occasional (7.5%) HP:0002120
22 myopathy occasional (7.5%) HP:0003198
23 emg abnormality occasional (7.5%) HP:0003457
24 aplasia/hypoplasia of the cerebellum occasional (7.5%) HP:0007360
25 hyperacusis occasional (7.5%) HP:0010780
26 abnormality of cardiovascular system physiology occasional (7.5%) HP:0011025
27 abnormality of dental color occasional (7.5%) HP:0011073

UMLS symptoms related to Usher Syndrome:


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

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 AcidNutraceutical912

Interventional clinical trials:

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 PigmentosaRecruitingNCT01530659Phase 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
4Study of Usher Syndromes, Type 1 and Type 2CompletedNCT00001347
5A Genetic Analysis of Usher Syndrome in Ashkenazi JewsCompletedNCT00016471
6Clinical and Genetic Examination of Usher Syndrome Patients' Cohort in EuropeRecruitingNCT01954953
7Inherited Retinal Degenerative Disease RegistryRecruitingNCT02435940
8Molecular Genetics of Retinal DegenerationsRecruitingNCT00231010
9Natural History and Genetic Studies of Usher SyndromeActive, not recruitingNCT00106743
10Study 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 Syndrome22

Anatomical Context for Usher Syndrome

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MalaCards organs/tissues related to Usher Syndrome:

33
Retina, Eye, Thyroid, Breast, Liver, Prostate, Cerebellum

Animal Models for Usher Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Usher Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.2CDH23, CLRN1, DFNB31, EML1, MYO7A, USH1C
2MP:00053866.3ADGRV1, CDH23, CIB2, CLRN1, DFNB31, EML1
3MP:00053915.9ADGRV1, CDH23, CLRN1, DFNB31, EML1, MYO7A
4MP:00053775.8ADGRV1, CDH23, CIB2, CLRN1, DFNB31, MYO7A
5MP:00036315.1ADGRV1, CDH23, CIB2, CLRN1, DFNB31, EML1

Publications for Usher Syndrome

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Articles related to Usher Syndrome:

(show top 50)    (show all 421)
idTitleAuthorsYear
1
Senear-Usher syndrome presenting with bipolar disorder: Management challenges. (26814382)
2015
2
Zebrafish Models for the Mechanosensory Hair Cell Dysfunction in Usher Syndrome 3 Reveal That Clarin-1 Is an Essential Hair Bundle Protein. (26180195)
2015
3
Correction: Novel Compound Heterozygous Mutations in MYO7A Associated with Usher Syndrome 1 in a Chinese Family. (26425852)
2015
4
Simultaneous bilateral cochlear implantation in a five-month-old child with Usher syndrome. (26177750)
2015
5
Screening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndrome. (25333064)
2014
6
Deletion of PDZD7 disrupts the Usher syndrome type 2 protein complex in cochlear hair cells and causes hearing loss in mice. (24334608)
2014
7
Comprehensive molecular diagnosis of a large cohort of Japanese retinitis pigmentosa and Usher syndrome patients by next-generation sequencing. (25324289)
2014
8
The giant spectrin I^V couples the molecular motors to phototransduction and Usher syndrome type I proteins along their trafficking route. (23704327)
2013
9
Nongranulomatous anterior uveitis in a patient with Usher syndrome. (24371428)
2013
10
An Usher syndrome type 1 patient diagnosed before the appearance of visual symptoms by MYO7A mutation analysis. (23237960)
2013
11
Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapy. (22009552)
2012
12
Evidence of genetic heterogeneity in Alberta Hutterites with Usher syndrome type I. (22690115)
2012
13
Usher syndrome. (22314473)
2012
14
Mutational frequencies in usherin(USH2A gene) in 26 Colombian individuals with Usher syndrome type II]. (22159486)
2011
15
Novel USH2A mutations in Japanese Usher syndrome type 2 patients: marked differences in the mutation spectrum between the Japanese and other populations. (21593743)
2011
16
Myosin VIIa and sans localization at stereocilia upper tip-link density implicates these Usher syndrome proteins in mechanotransduction. (21709241)
2011
17
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
18
A novel 5-bp deletion in Clarin 1 in a family with Usher syndrome. (21675857)
2011
19
Identification of large rearrangements of the PCDH15 gene by combined MLPA and a CGH: large duplications are responsible for Usher syndrome. (20538994)
2010
20
Microarray-based mutation analysis of 183 Spanish families with Usher syndrome. (19683999)
2010
21
Usher syndrome type 1: early detection of electroretinographic changes. (19006676)
2009
22
Update on Usher syndrome. (19165952)
2009
23
Usher syndrome and psychiatric symptoms: a challenge in psychiatric management. (19270624)
2009
24
"Minimized rotational vestibular testing" as a screening procedure detecting vestibular areflexy in deaf children: screening cochlear implant candidates for Usher syndrome type I. (18058117)
2008
25
UMD-USHbases: a comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genes. (18484607)
2008
26
Lentiviral gene replacement therapy of retinas in a mouse model for Usher syndrome type 1B. (17268537)
2007
27
MYO7A mutation screening in Usher syndrome type I patients from diverse origins. (17361009)
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
Molecular genetic study of Usher syndrome in Spain]. (16240916)
2005
30
Characterization of vestibular dysfunction in the mouse model for Usher syndrome 1F. (15952048)
2005
31
Clinical and genetic linkage analysis of a large Venezuelan kindred with Usher syndrome. (15236894)
2004
32
Genetic heterogeneity in Usher syndrome. (15368488)
2004
33
Mutational spectrum in Usher syndrome type II. (15025721)
2004
34
Usher syndrome: correlation between visual field size and maximal ERG response b-wave amplitude. (15180256)
2003
35
Usher syndrome and cochlear implantation. (12621335)
2003
36
Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC. (12107438)
2002
37
Usher syndrome type III: revised genomic structure of the USH3 gene and identification of novel mutations. (12145752)
2002
38
Genetic heterogeneity of Usher syndrome: analysis of 151 families with Usher type I. (11060213)
2000
39
Early diagnosis of Usher syndrome in children. (11190026)
2000
40
Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I. (10930322)
2000
41
The usher syndromes. (10704190)
1999
42
A gene for recessive nonsyndromic sensorineural deafness (DFNB18) maps to the chromosomal region 11p14-p15.1 containing the Usher syndrome type 1C gene. (9653658)
1998
43
Epidemiology of Usher syndrome in Valencia and Spain. (15178965)
1998
44
Mutations in the myosin VIIA gene cause a wide phenotypic spectrum, including atypical Usher syndrome. (9718356)
1998
45
Molecular cloning and domain structure of human myosin-VIIa, the gene product defective in usher syndrome 1B. (8884267)
1996
46
Defective myosin VIIA gene responsible for Usher syndrome type 1B. (7870171)
1995
47
Linkage studies of Usher syndrome type 1: exclusion results from the Usher syndrome consortium. (1427898)
1992
48
Usher syndrome type I is not linked to D1S81 (pTHH 33): evidence for genetic heterogeneity. (1978628)
1990
49
A case for diagnosis (lupus erythematosus with superimposed Senear-Usher syndrome). (20277314)
1946
50

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
1MT-TS2m.12258C> Asingle nucleotide variantPathogenicrs118203888GRCh37Chr MT, 12258: 12258

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:

idNameGO IDScoreTop Affiliating Genes
1microvillusGO:000590210.4CLRN1, MYO7A
2stereocilium bundleGO:003242110.3PCDH15, USH2A
3photoreceptor inner segmentGO:000191710.1DFNB31, MYO7A
4ciliary basal bodyGO:00360649.8DFNB31, USH1G, USH2A
5USH2 complexGO:19906969.6DFNB31, PDZD7
6stereocilia ankle linkGO:00021419.3DFNB31, PDZD7, USH2A
7cytoplasmGO:00057378.4CIB2, MYO7A, PCDH15, USH1C, USH1G, USH2A

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

idNameGO IDScoreTop Affiliating Genes
1response to stimulusGO:00508969.9CDH23, CLRN1
2sensory perception of soundGO:00076059.9CLRN1, USH1G
3photoreceptor cell maintenanceGO:00454949.6ADGRV1, CDH23, PCDH15
4sensory perception of light stimulusGO:00509539.5CDH23, CLRN1, PCDH15, USH1C
5visual perceptionGO:00076019.0ADGRV1, CDH23, CLRN1

Sources for Usher Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet