MCID: USH033
MIFTS: 35

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:
12diseasecard, 24GeneTests, 26GTR, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 47NIH Rare Diseases, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
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Aliases & Descriptions for Usher Syndrome, Type 3a:

Name: Usher Syndrome, Type 3a 51 12
Usher Syndrome Type 3 47 24 53 69
Ush3a 47 24 69
Ush3 47 53 69
Usher Syndrome 3a 69 26
 
Usher Syndrome, Type Iii 67
Usher's Syndrome Type 3 69
Usher Syndrome Type Iii 69
Usher Syndrome Type 3a 24
Usher Syndrome Iii 69

Characteristics:

Orphanet epidemiological data:

53
usher syndrome type 3:
Inheritance: Autosomal recessive; Age of onset: Adolescent,Childhood

HPO:

63
usher syndrome, type 3a:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 276902
Orphanet53 ORPHA231183
UMLS via Orphanet68 C1568248
ICD10 via Orphanet30 H35.5
MedGen36 C1568248
MeSH38 D052245

Summaries for Usher Syndrome, Type 3a

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UniProtKB/Swiss-Prot:69 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, type 2a and usher syndrome, type 2c, 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:47 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:51 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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Graphical network of diseases related to Usher Syndrome, Type 3a:



Diseases related to usher syndrome, type 3a

Symptoms for Usher Syndrome, Type 3a

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Symptoms by clinical synopsis from OMIM:

276902

Clinical features from OMIM:

276902

Human phenotypes related to Usher Syndrome, Type 3a:

 63 53 (show all 26)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment63 53 hallmark (90%) Very frequent (99-80%) HP:0000407
2 visual impairment63 hallmark (90%) HP:0000505
3 abnormal electroretinogram63 53 hallmark (90%) Very frequent (99-80%) HP:0000512
4 nyctalopia63 hallmark (90%) HP:0000662
5 visual field defect63 hallmark (90%) HP:0001123
6 abnormality of retinal pigmentation63 hallmark (90%) HP:0007703
7 astigmatism63 53 typical (50%) Frequent (79-30%) HP:0000483
8 cataract63 53 typical (50%) Frequent (79-30%) HP:0000518
9 hypermetropia63 typical (50%) HP:0000540
10 incoordination63 typical (50%) HP:0002311
11 hallucinations63 53 occasional (7.5%) Occasional (29-5%) HP:0000738
12 rod-cone dystrophy63 HP:0000510
13 vestibular dysfunction63 HP:0001751
14 reduced visual acuity63 HP:0007663
15 abnormality of cochlea53 Very frequent (99-80%)
16 visual loss53 Very frequent (99-80%)
17 scotoma53 Very frequent (99-80%)
18 night blindness53 Very frequent (99-80%)
19 depression53 Occasional (29-5%)
20 anxiety53 Occasional (29-5%)
21 ataxia53 Frequent (79-30%)
22 vestibular hypofunction53 Very frequent (99-80%)
23 iris hypopigmentation53 Very frequent (99-80%)
24 high-grade hypermetropia53 Frequent (79-30%)
25 hemianopsia53 Very frequent (99-80%)
26 schizophrenia53 Occasional (29-5%)

Drugs & Therapeutics for Usher Syndrome, Type 3a

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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 PigmentosaActive, not recruitingNCT01530659Phase 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 3a26
2 Usher Syndrome Type 324 HARS
3 Usher Syndrome Type 3a24 CLRN1

Anatomical Context for Usher Syndrome, Type 3a

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

35
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:

69
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 16)
id Gene Variation Type Significance SNP ID Assembly Location
1CLRN1NM_174878.2(CLRN1): c.149_152delCAGGinsTGTCCAAT (p.Ser50Leufs)indelLikely pathogenic, Pathogenicrs786204428GRCh37Chr 3, 150690344: 150690347
2CLRN1NM_174878.2(CLRN1): c.502dupA (p.Ile168Asnfs)duplicationLikely pathogenicrs746523071GRCh37Chr 3, 150645920: 150645920
3CLRN1NM_174878.2: c.433+2dupTduplicationLikely pathogenicChr na, -1: -1
4CLRN1NM_174878.2: c.13C> TSNVLikely pathogenicChr na, -1: -1
5CLRN1NM_174878.2: c.619C> TSNVPathogenicChr na, -1: -1
6CLRN1NM_001195794.1(CLRN1): c.567T> G (p.Tyr189Ter)SNVPathogenicrs121908140GRCh37Chr 3, 150645894: 150645894
7CLRN1NM_001195794.1(CLRN1): c.359T> A (p.Met120Lys)SNVPathogenicrs121908141GRCh37Chr 3, 150659443: 150659443
8CLRN1CLRN1, 3-BP DEL, 459ATTdeletionPathogenicChr na, -1: -1
9CLRN1NM_001195794.1(CLRN1): c.144T> G (p.Asn48Lys)SNVPathogenicrs111033258GRCh37Chr 3, 150690352: 150690352
10CLRN1NM_001195794.1(CLRN1): c.488T> C (p.Leu163Pro)SNVPathogenicrs121908142GRCh37Chr 3, 150645973: 150645973
11CLRN1NM_001195794.1(CLRN1): c.189C> A (p.Tyr63Ter)SNVPathogenicrs111033267GRCh37Chr 3, 150690307: 150690307
12CLRN1CLRN1, 23-BP DEL, NT187deletionPathogenicChr na, -1: -1
13CLRN1NM_001195794.1(CLRN1): c.118T> G (p.Cys40Gly)SNVPathogenicrs121908143GRCh37Chr 3, 150690378: 150690378
14CLRN1NM_001195794.1(CLRN1): c.127G> A (p.Gly43Arg)SNVLikely pathogenicrs111033434GRCh37Chr 3, 150690369: 150690369
15CLRN1NM_001195794.1(CLRN1): c.301_305delGTCAT (p.Val101Serfs)deletionLikely pathogenic, Pathogenicrs397517932GRCh37Chr 3, 150659497: 150659501
16CLRN1NM_174878.2(CLRN1): c.368C> A (p.Ala123Asp)SNVLikely 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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet