MCID: USH001
MIFTS: 56

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, 35MedlinePlus, 65UMLS, 24GTR, 36MeSH, 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 eye, retina and cerebellum, 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 314)
idRelated DiseaseScoreTop Affiliating Genes
1usher syndrome, type 2a33.9PDZD7, USH2A
2usher syndrome type 1k33.2CIB2, DFNB31, MYO7A
3pulmonary tuberculosis29.9CDH23, MYO7A, USH1C, USH2A
4usher syndrome, type 1b12.7
5usher syndrome, type 3a12.6
6usher syndrome, type 2c12.6
7usher syndrome, type 1d12.6
8usher syndrome, type 1c12.6
9osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome12.5
10usher syndrome, type 1f12.5
11usher syndrome, type 2d12.5
12usher syndrome type 3b12.5
13usher syndrome, type 1g12.5
14usher syndrome, type ij12.5
15usher syndrome, type ik12.4
16usher syndrome, type 2b12.3
17usher syndrome type ii12.3
18usher syndrome type 1h12.2
19usher syndrome type 1j12.2
20pemphigus erythematosus11.6
21alstrom syndrome11.3
22polycystic kidney disease10.7
23prostatitis10.5
24breast cancer10.4
25cerebritis10.4
26hepatitis10.3
27lymphoma10.3
28endotheliitis10.3
29leukemia10.3
30pancreatitis10.3
31retinitis pigmentosa10.3
32adenocarcinoma10.3
33myopathy10.3
34thyroiditis10.3
35lung cancer10.2
36prostate cancer10.2
37gastric cancer10.2
38thrombocytopenia10.2
39filariasis10.2
40viral hepatitis10.2
41neuropathy10.2
42dhdds-cdg10.1MYO7A, PCDH15
43deafness, autosomal recessive 18a10.1MYO7A, USH1C, USH1G
44malaria10.1
45coronary artery disease10.1
46hodgkin lymphoma10.1
47cystic fibrosis10.1
48aspergillosis10.1
49insulin-like growth factor i10.1
50fabry disease10.1

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

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
Eye, Retina, Cerebellum, T cells, Liver, Breast, Heart

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 410)
idTitleAuthorsYear
1
Potential genetic biomarkers in the early diagnosis of Alzheimer disease: APOE and BIN1. (26738348)
2015
2
Validation of AshTest as a Non-Invasive Alternative to Transjugular Liver Biopsy in Patients with Suspected Severe Acute Alcoholic Hepatitis. (26252713)
2015
3
Successful management of acute mesenteric ischaemia in a pregnant woman with protein s deficiency. (24652435)
2014
4
The spleen-derived autoimmune response to ADAMTS13 in Thrombotic Thrombocytopenic Purpura contains recurrent antigen-binding CDR3 motifs. (25261198)
2014
5
Towards the development of a surface plasmon resonance assay to evaluate the glycosylation pattern of monoclonal antibodies using the extracellular domains of CD16a and CD64. (24810583)
2014
6
Adenoid cystic carcinoma on the dorsum of the tongue. (23798839)
2013
7
Prospective multicenter randomized intermediate biomarker study of oral contraceptive versus depo-provera for prevention of endometrial cancer in women with Lynch syndrome. (23639481)
2013
8
Retinopathy of prematurity in neonatal patients with birth weight greater than 1500 g in Taiwan. (23644237)
2013
9
PI3K p110I^ deletion attenuates murine atherosclerosis by reducing macrophage proliferation but not polarization or apoptosis in lesions. (23991137)
2013
10
Association of NAT1 and NAT2 genes with nonsyndromic cleft lip and palate. (23660777)
2013
11
let-7b and miR-126 are down-regulated in tumor tissue and correlate with microvessel density and survival outcomes in non--small--cell lung cancer. (23029111)
2012
12
Increased interleukin-1I^ gene expression in peripheral blood leukocytes is associated with increased pain and predicts risk for progression of symptomatic knee osteoarthritis. (21717421)
2011
13
Notch and EGFR pathway interaction regulates neural stem cell number and self-renewal. (20844536)
2010
14
Renal and cardiorespiratory effects of treatment with lactated Ringer's solution or physiologic saline (0.9% NaCl) solution in cats with experimentally induced urethral obstruction. (20594088)
2010
15
Thoracic outlet syndrome due to an axillary band: what if it ruptures? (20013268)
2010
16
Common polymorphisms influencing serum uric acid levels contribute to susceptibility to gout, but not to coronary artery disease. (19890391)
2009
17
Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle. (18691976)
2008
18
Application of micellar electrokinetic capillary chromatography for evaluation of inhibitory effects on cytochrome P450 reaction. (18036599)
2008
19
Immunotherapeutic activity of a conjugate of a Toll-like receptor 7 ligand. (17360465)
2007
20
Chronic inflammation, immune response, and infection in abdominal aortic aneurysms. (16414293)
2006
21
Pharmacogenomics and pharmacogenetics of hypertension: update and perspectives--the adducin paradigm. (16565244)
2006
22
Production of soluble tumor necrosis factor receptors and tumor necrosis factor-alpha by alveolar macrophages in sarcoidosis and extrinsic allergic alveolitis. (15653992)
2005
23
Mutation identification in a canine model of X-linked ectodermal dysplasia. (16151697)
2005
24
Serum response factor regulates a muscle-specific microRNA that targets Hand2 during cardiogenesis. (15951802)
2005
25
Striatal Amphetamine-induced Dopamine Release in Schizotypal Personality Disorder. (15717985)
2005
26
Autosomal dominant microtia and ocular coloboma: new syndrome or an extension of the oculo-auriculo-vertebral spectrum? (15800906)
2005
27
Functional pharmacology of human prostanoid EP2 and EP4 receptors. (15464062)
2004
28
Ocular hypotensive effect and safety of brinzolamide ophthalmic solution in open angle glaucoma patients. (15216404)
2004
29
The ubiquitin-proteasome system is responsible for cysteine-responsive regulation of cysteine dioxygenase concentration in liver. (14644768)
2004
30
Translational and post-translational modifications of proteins as a new mechanism of action of alpha-interferon: review article. (15290347)
2004
31
Effect of danshen injection on expression of platelet membrane glycoproteins in patients with type II diabetes mellitus]. (14768394)
2003
32
Gastric-type mucin and TFF-peptide expression in Barrett's oesophagus is disturbed during increased expression of MUC2. (12786891)
2003
33
Yeast Rio1p is the founding member of a novel subfamily of protein serine kinases involved in the control of cell cycle progression. (11972772)
2002
34
Orbital cellulitis and abscess secondary to dacryocystitis. (12149070)
2002
35
Silencing expression of the catalytic subunit of DNA-dependent protein kinase by small interfering RNA sensitizes human cells for radiation-induced chromosome damage, cell killing, and mutation. (12438223)
2002
36
Identification of potential physiological activators of protein phosphatase 5. (11969423)
2002
37
Cholesterol, a cell size-dependent signal that regulates glucose metabolism and gene expression in adipocytes. (11278795)
2001
38
E2 and not P4 increases NO release from NANC nerves of the gastrointestinal tract: implications in pregnancy. (11294780)
2001
39
COX-2 specific inhibitors offer improved advantages over traditional NSAIDs. (10914695)
2000
40
Cytoskeletal organization defects and abortive activation in human oocytes after IVF and ICSI failure. (10825367)
2000
41
Epidermal nuclear CIq deposits in a patient with amyopathic dermatomyositis. (10066959)
1999
42
Hypercalcemia associated with all-trans-retinoic acid in the treatment of acute promyelocytic leukemia. (8501972)
1993
43
Reduced GAP-43 message levels are associated with increased neurofibrillary tangle density in the frontal association cortex (area 9) in Alzheimer's disease. (1283445)
1992
44
Branched chain acyltransferase absence due to an Alu-based genomic deletion allele and an exon skipping allele in a compound heterozygote proband expressing maple syrup urine disease. (1547285)
1992
45
Idiopathic restrictive cardiomyopathy in the young: report of two cases. (2269532)
1990
46
Hereditary dwarfism. Recent advances in molecular genetics of the growth hormone receptor]. (2147483)
1990
47
The mas oncogene encodes an angiotensin receptor. (3419518)
1988
48
Dermatoglyphs in skeletal dysplasias. (917958)
1977
49
Hemoglobin Freiburg: abnormal hemoglobin due to deletion of a single amino acid residue. (5919752)
1966
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