USH3
MCID: USH005
MIFTS: 31

Usher Syndrome Type 3 (USH3) malady

Genetic diseases, Rare diseases, Eye diseases, Ear diseases, Fetal diseases categories
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Summaries for Usher Syndrome Type 3

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43NIH Rare Diseases, 33MalaCards
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NIH Rare Diseases:43 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), and among its related pathways is Thyroid hormone signaling pathway.

Aliases & Classifications for Usher Syndrome Type 3

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43NIH Rare Diseases, 20GeneTests, 22GTR, 62UMLS
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Classifications:



Aliases & Descriptions:

usher syndrome type 3 43 20 22
usher syndrome, type iii 62
ush3a 43
ush3 43


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

Symptoms for Usher Syndrome Type 3

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Drugs & Therapeutics for Usher Syndrome Type 3

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Usher Syndrome Type 3

Search NIH Clinical Center 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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Publications for Usher Syndrome Type 3

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52PubMed
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Articles related to Usher Syndrome Type 3:

idTitleAuthorsYear
1
Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3. (22938382)
2012
2
Speech recognition and communication outcomes with cochlear implantation in Usher syndrome type 3. (22143301)
2012
3
Two novel disease-causing mutations in the CLRN1 gene in patients with Usher syndrome type 3. (23304067)
2012
4
Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3. (11524702)
2001

Variations for Usher Syndrome Type 3

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Usher Syndrome Type 3:

1
id Gene Name Type Significance SNP ID Assembly Location
1CLRN1NM_001195794.1(CLRN1): c.567T> G (p.Tyr189Ter)single nucleotide variantPathogenicrs121908140GRCh37Chr 3, 150645894: 150645894
2CLRN1NM_001195794.1(CLRN1): c.359T> A (p.Met120Lys)single nucleotide variantPathogenicrs121908141GRCh37Chr 3, 150659443: 150659443
3CLRN1NM_001195794.1(CLRN1): c.144T> G (p.Asn48Lys)single nucleotide variantPathogenicrs111033258GRCh37Chr 3, 150690352: 150690352
4CLRN1NM_001195794.1(CLRN1): c.488T> C (p.Leu163Pro)single nucleotide variantPathogenicrs121908142GRCh37Chr 3, 150645973: 150645973
5CLRN1NM_001195794.1(CLRN1): c.189C> A (p.Tyr63Ter)single nucleotide variantPathogenicrs111033267GRCh37Chr 3, 150690307: 150690307
6CLRN1NM_001195794.1(CLRN1): c.118T> G (p.Cys40Gly)single nucleotide variantPathogenicrs121908143GRCh37Chr 3, 150690378: 150690378

Expression for genes affiliated with Usher Syndrome Type 3

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2BioGPS, 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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50PathCards, 30KEGG
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Pathways related to Usher Syndrome Type 3 according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5MED12L, MED12

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
1mediator complexGO:0165929.5MED12L, MED12

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

idNameGO IDScoreTop Affiliating Genes
1G-protein coupled receptor signaling pathwayGO:0071869.3P2RY14, GPR171

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

idNameGO IDScoreTop Affiliating Genes
1beta-catenin bindingGO:0080139.5MED12L, MED12
2RNA polymerase II transcription cofactor activityGO:0011049.2MED12L, MED12

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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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet