MCID: USH033
MIFTS: 33

Usher Syndrome, Type 3a malady

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

Aliases & Classifications for Usher Syndrome, Type 3a

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Sources:
50OMIM, 46NIH Rare Diseases, 23GeneTests, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 66UMLS, 29ICD10 via Orphanet, 67UMLS via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Usher Syndrome, Type 3a:

Name: Usher Syndrome, Type 3a 50 12
Usher Syndrome Type 3 46 23 52 68
Ush3a 46 23 68
Ush3 46 52 68
Usher Syndrome 3a 68 25
 
Usher Syndrome, Type Iii 66
Usher's Syndrome Type 3 68
Usher Syndrome Type Iii 68
Usher Syndrome Type 3a 23
Usher Syndrome Iii 68

Characteristics:

Orphanet epidemiological data:

52
usher syndrome type 3:
Inheritance: Autosomal recessive; Age of onset: Adolescent,Childhood

HPO:

62
usher syndrome, type 3a:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 276902
Orphanet52 ORPHA231183
ICD10 via Orphanet29 H35.5
UMLS via Orphanet67 C1568248
MedGen35 C1568248
MeSH37 D052245

Summaries for Usher Syndrome, Type 3a

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UniProtKB/Swiss-Prot:68 Usher syndrome 3A: USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH3 is characterized by postlingual, progressive hearing loss, variable vestibular dysfunction, and onset of retinitis pigmentosa symptoms, including nyctalopia, constriction of the visual fields, and loss of central visual acuity, usually by the second decade of life.

MalaCards based summary: Usher Syndrome, Type 3a, also known as usher syndrome type 3, is related to usher syndrome and x-linked hypophosphatemic rickets, and has symptoms including sensorineural hearing impairment, visual impairment and abnormal electroretinogram. An important gene associated with Usher Syndrome, Type 3a is CLRN1 (Clarin 1), and among its related pathways is tRNA Aminoacylation. Affiliated tissues include eye and retina.

NIH Rare Diseases:46 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

OMIM:50 Usher syndrome type III is characterized by postlingual, progressive hearing loss, variable vestibular dysfunction, and... (276902) more...

Related Diseases for Usher Syndrome, Type 3a

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Symptoms for Usher Syndrome, Type 3a

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Symptoms by clinical synopsis from OMIM:

276902

Clinical features from OMIM:

276902

Symptoms:

 52 (show all 17)
  • abnormality of cochlea
  • sensorineural hearing impairment
  • astigmatism
  • abnormal electroretinogram
  • cataract
  • visual loss
  • scotoma
  • night blindness
  • depression
  • hallucinations
  • anxiety
  • ataxia
  • vestibular hypofunction
  • iris hypopigmentation
  • high-grade hypermetropia
  • hemianopsia
  • schizophrenia

HPO human phenotypes related to Usher Syndrome, Type 3a:

(show all 17)
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 astigmatism typical (50%) HP:0000483
8 cataract typical (50%) HP:0000518
9 hypermetropia typical (50%) HP:0000540
10 incoordination typical (50%) HP:0002311
11 hallucinations occasional (7.5%) HP:0000738
12 sensorineural hearing impairment HP:0000407
13 rod-cone dystrophy HP:0000510
14 nyctalopia HP:0000662
15 visual field defect HP:0001123
16 vestibular dysfunction HP:0001751
17 reduced visual acuity HP:0007663

Drugs & Therapeutics for Usher Syndrome, Type 3a

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Retinal Imaging of Subjects Implanted With Ciliary Neurotrophic Factor (CNTF)-Releasing Encapsulated Cell Implant for Early-stage Retinitis PigmentosaRecruitingNCT01530659Phase 2
2Study of UshStat in Patients With Retinitis Pigmentosa Associated With Usher Syndrome Type 1BRecruitingNCT01505062Phase 1, Phase 2
3Natural History and Genetic Studies of Usher SyndromeActive, not recruitingNCT00106743

Search NIH Clinical Center for Usher Syndrome, Type 3a

Genetic Tests for Usher Syndrome, Type 3a

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Genetic tests related to Usher Syndrome, Type 3a:

id Genetic test Affiliating Genes
1 Usher Syndrome, Type 3a25
2 Usher Syndrome Type 323 HARS
3 Usher Syndrome Type 3a23 CLRN1

Anatomical Context for Usher Syndrome, Type 3a

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MalaCards organs/tissues related to Usher Syndrome, Type 3a:

34
Eye, Retina

Animal Models for Usher Syndrome, Type 3a or affiliated genes

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Publications for Usher Syndrome, Type 3a

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Articles related to Usher Syndrome, Type 3a:

idTitleAuthorsYear
1
The cone-dominant retina and the inner ear of zebrafish express the ortholog of CLRN1, the causative gene of human Usher syndrome type 3A. (24045267)
2013

Variations for Usher Syndrome, Type 3a

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UniProtKB/Swiss-Prot genetic disease variations for Usher Syndrome, Type 3a:

68
id Symbol AA change Variation ID SNP ID
1CLRN1p.Met120LysVAR_012241rs121908141
2CLRN1p.Asn48LysVAR_030345rs111033258
3CLRN1p.Leu150ProVAR_030346rs121908142
4CLRN1p.Cys40GlyVAR_054555rs121908143
5CLRN1p.Ser105ProVAR_054556
6CLRN1p.Ile168AsnVAR_071434

Clinvar genetic disease variations for Usher Syndrome, Type 3a:

5 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1CLRN1NM_174878.2(CLRN1): c.149_152delCAGGinsTGTCCAAT (p.Ser50Leufs)indelLikely pathogenic, Pathogenicrs786204428GRCh38Chr 3, 150972557: 150972560
2CLRN1NM_174878.2(CLRN1): c.502dupA (p.Ile168Asnfs)duplicationLikely pathogenicrs746523071GRCh37Chr 3, 150645920: 150645920
3CLRN1NM_001195794.1(CLRN1): c.567T> G (p.Tyr189Ter)single nucleotide variantPathogenicrs121908140GRCh37Chr 3, 150645894: 150645894
4CLRN1NM_001195794.1(CLRN1): c.359T> A (p.Met120Lys)single nucleotide variantPathogenicrs121908141GRCh37Chr 3, 150659443: 150659443
5CLRN1CLRN1, 3-BP DEL, 459ATTdeletionPathogenic
6CLRN1NM_001195794.1(CLRN1): c.144T> G (p.Asn48Lys)single nucleotide variantPathogenicrs111033258GRCh37Chr 3, 150690352: 150690352
7CLRN1NM_001195794.1(CLRN1): c.488T> C (p.Leu163Pro)single nucleotide variantPathogenicrs121908142GRCh37Chr 3, 150645973: 150645973
8CLRN1NM_001195794.1(CLRN1): c.189C> A (p.Tyr63Ter)single nucleotide variantPathogenicrs111033267GRCh37Chr 3, 150690307: 150690307
9CLRN1CLRN1, 23-BP DEL, NT187deletionPathogenic
10CLRN1NM_001195794.1(CLRN1): c.118T> G (p.Cys40Gly)single nucleotide variantPathogenicrs121908143GRCh37Chr 3, 150690378: 150690378
11CLRN1NM_001195794.1(CLRN1): c.127G> A (p.Gly43Arg)single nucleotide variantLikely pathogenicrs111033434GRCh37Chr 3, 150690369: 150690369
12CLRN1NM_001195794.1(CLRN1): c.301_305delGTCAT (p.Val101Serfs)deletionLikely pathogenic, Pathogenicrs397517932GRCh37Chr 3, 150659497: 150659501
13CLRN1NM_174878.2(CLRN1): c.368C> A (p.Ala123Asp)single nucleotide variantLikely pathogenic, Pathogenicrs374963432GRCh37Chr 3, 150659434: 150659434

Expression for genes affiliated with Usher Syndrome, Type 3a

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Search GEO for disease gene expression data for Usher Syndrome, Type 3a.

Pathways for genes affiliated with Usher Syndrome, Type 3a

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Pathways related to Usher Syndrome, Type 3a according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.0HARS, MT-TS2

GO Terms for genes affiliated with Usher Syndrome, Type 3a

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Sources for Usher Syndrome, Type 3a

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet