USH3
MCID: USH005
MIFTS: 28

Usher Syndrome Type 3 (USH3) malady

Summaries for Usher Syndrome Type 3

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42NIH Rare Diseases, 32MalaCards
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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

MalaCards: Usher Syndrome Type 3, also known as usher syndrome, type iii, is related to usher syndrome and usher syndrome type 3a. An important gene associated with Usher Syndrome Type 3 is HARS (histidyl-tRNA synthetase). Related mouse phenotypes are behavior/neurological and hearing/vestibular/ear.

Aliases & Classifications for Usher Syndrome Type 3

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42NIH Rare Diseases, 20GeneTests, 22GTR, 60UMLS
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Aliases & Descriptions:

usher syndrome type 3 42 20 22
usher syndrome, type iii 60
ush3a 42
ush3 42


Related Diseases for Usher Syndrome Type 3

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Usher Syndrome Type 3:



Diseases related to usher syndrome type 3

Clinical Features for Usher Syndrome Type 3

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Drugs & Therapeutics for Usher Syndrome Type 3

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Usher Syndrome Type 3

Search CenterWatch for Usher Syndrome Type 3

Genetic Tests for Usher Syndrome Type 3

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20GeneTests, 22GTR
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Genetic tests related to Usher Syndrome Type 3:

id Genetic test Affiliating Genes
1 Usher Syndrome Type 320 HARS
2 Usher Syndrome, Type 322

Anatomical Context for Usher Syndrome Type 3

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Animal Models for Usher Syndrome Type 3 or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Usher Syndrome Type 3:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053868.5USH1G, DFNB31, MYO7A, CDH23, PCDH15, CLRN1
2MP:00053778.2GPR98, USH1C, USH1G, USH2A, DFNB31, MYO7A
3MP:00053918.1USH1C, USH1G, USH2A, DFNB31, MYO7A, CDH23
4MP:00036317.7MED12, USH1C, USH1G, USH2A, DFNB31, MYO7A

Publications for Usher Syndrome Type 3

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Genetic Variations for Usher Syndrome Type 3

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Expression for genes affiliated with Usher Syndrome Type 3

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Usher Syndrome Type 3

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Pathways for genes affiliated with Usher Syndrome Type 3

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Compounds for genes affiliated with Usher Syndrome Type 3

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GO Terms for genes affiliated with Usher Syndrome Type 3

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16Gene Ontology
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Cellular components related to Usher Syndrome Type 3 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1photoreceptor inner segmentGO:0019179.8USH1C, CIB2, MYO7A
2mediator complexGO:0165929.7MED12L, MED12
3stereocilia ankle link complexGO:0021429.7GPR98, DFNB31, USH2A
4photoreceptor outer segmentGO:0017509.6PCDH15, MYO7A, USH1C
5synapseGO:0452029.4PCDH15, MYO7A, USH1C
6stereociliumGO:0324209.3PCDH15, CDH23, MYO7A, DFNB31, USH1C

Biological processes related to Usher Syndrome Type 3 according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1inner ear receptor stereocilium organizationGO:0601229.9GPR98, DFNB31
2maintenance of organ identityGO:0484969.9GPR98, USH2A
3inner ear receptor cell differentiationGO:0601139.7USH2A, USH1G
4response to stimulusGO:0508969.6USH2A, CDH23, CLRN1
5visual perceptionGO:0076019.3USH2A, MYO7A, CDH23, CLRN1, GPR98
6equilibrioceptionGO:0509579.2USH1C, CLRN1, PCDH15, CDH23, MYO7A, USH1G
7photoreceptor cell maintenanceGO:0454948.6GPR98, CLRN1, PCDH15, CDH23, CIB2, USH2A
8sensory perception of light stimulusGO:0509538.4USH1C, USH1G, USH2A, GPR98, CLRN1, PCDH15
9sensory perception of soundGO:0076058.3GPR98, CLRN1, PCDH15, CDH23, MYO7A, DFNB31

Molecular functions related to Usher Syndrome Type 3 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II transcription cofactor activityGO:0011049.7MED12L, MED12
2myosin bindingGO:0170229.6GPR98, USH2A

Products for genes affiliated with Usher Syndrome Type 3

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Usher Syndrome Type 3

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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