USH3A
MCID: USH033
MIFTS: 45

Usher Syndrome, Type 3a (USH3A) malady

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

Aliases & Classifications for Usher Syndrome, Type 3a

Aliases & Descriptions for Usher Syndrome, Type 3a:

Name: Usher Syndrome, Type 3a 54 13
Usher Syndrome Type 3 12 50 24 56 66 14
Ush3a 12 50 24 66
Ush3 12 50 56 66
Usher Syndrome Type 3a 12 24 14
Usher Syndrome 3a 66 29
Usher Syndrome Type Iiia 12
Usher Syndrome, Type Iii 69
Usher Syndrome Type Iii 66
Usher's Syndrome Type 3 66
Usher Syndrome Iii 66

Characteristics:

Orphanet epidemiological data:

56
usher syndrome type 3
Inheritance: Autosomal recessive; Age of onset: Adolescent,Childhood;

HPO:

32
usher syndrome, type 3a:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 276902
Disease Ontology 12 DOID:0110828 DOID:0110841
ICD10 33 H35.5
Orphanet 56 ORPHA231183
UMLS via Orphanet 70 C1568248
ICD10 via Orphanet 34 H35.5
MedGen 40 C1568248
MeSH 42 D052245
UMLS 69 C1568248

Summaries for Usher Syndrome, Type 3a

NIH Rare Diseases : 50 usher syndrome is a genetic disorder characterized by sensorineural hearing loss or deafness and progressive vision loss due to retinitis pigmentosa. sensorineural hearing means it is caused by abnormalities of the inner ear. retinitis pigmentosa is an eye disease that 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, that can enlarge and merge to produce tunnel vision (loss of all peripheral vision). in some cases, vision is further impaired by clouding of the lens of the eye (cataracts). 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. treatment for the hearing loss may include hearing aids or surgery for a cochlear implant. vitamin a palmitate is useful for treating the vision loss in people with usher syndrome type ii. last updated: 3/16/2017

MalaCards based summary : Usher Syndrome, Type 3a, also known as usher syndrome type 3, is related to usher syndrome, type 1f and usher syndrome type 3b, and has symptoms including ataxia, depression and cataract. An important gene associated with Usher Syndrome, Type 3a is CLRN1 (Clarin 1). Affiliated tissues include retina and eye, and related phenotypes are hearing/vestibular/ear and behavior/neurological

Disease Ontology : 12 An Usher syndrome characterized by progressive hearing loss typically beginning in late childhood, variable vestibular dysfunction and onset of retinitis pigmentosa by the second decade of life.

OMIM : 54 Usher syndrome type III is characterized by postlingual, progressive hearing loss, variable vestibular dysfunction, and... (276902) more...

UniProtKB/Swiss-Prot : 66 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.

Related Diseases for Usher Syndrome, Type 3a

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 2 Usher Syndrome Type 1h
Usher Syndrome, Type 2b

Diseases related to Usher Syndrome, Type 3a via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 40)
id Related Disease Score Top Affiliating Genes
1 usher syndrome, type 1f 30.1 ADGRV1 CDH23 MYO7A PCDH15 USH1C USH1G
2 usher syndrome type 3b 11.1
3 usher syndrome, type 2d 10.9
4 usher syndrome, type 1d 10.9
5 usher syndrome, type 1c 10.9
6 usher syndrome, type 1b 10.9
7 usher syndrome, type ij 10.9
8 usher syndrome, type 1g 10.9
9 usher syndrome, type 2a 10.9
10 usher syndrome, type 2c 10.9
11 pnpla6-related disorders 10.2 CLRN1 USH2A
12 retinitis pigmentosa 39 10.1 USH1C USH2A
13 fibrochondrogenesis 2 10.1 MYO7A USH2A
14 die smulders droog van dijk syndrome 10.1 MYO7A PCDH15
15 manitoba oculotrichoanal syndrome 10.0 CDH23 MYO7A
16 sjogren-larsson syndrome 10.0 CDH23 MYO7A
17 autosomal dominant nonsyndromic deafness 68 10.0 USH1C USH1G
18 adult liposarcoma 10.0 MYO7A PCDH15 USH2A
19 autosomal dominant nonsyndromic deafness 69 9.9 CDH23 MYO7A
20 usher syndrome 9.9
21 charcot-marie-tooth disease, type 1d 9.9 CDH23 MYO7A PCDH15
22 robinow syndrome, autosomal dominant 1 9.9 ADGRV1 MYO7A USH2A
23 autosomal recessive nonsyndromic deafness 97 9.9 CDH23 MYO7A
24 cardiomyopathy, dilated, 1kk 9.8 MYO7A PCDH15 USH1C USH1G
25 obesity susceptibility, adrb3-related 9.8 CDH23 MYO7A USH1C USH2A
26 rhizomelic chondrodysplasia punctata type 5 9.8 ADGRV1 CLRN1 MT-TS2 MYO7A
27 fanconi anemia, complementation group f 9.8 CDH23 MYO7A USH1C USH1G
28 deafness, autosomal recessive 23 9.7 CDH23 MYO7A PCDH15 USH1C
29 narcissistic personality disorder 9.7 CDH23 MYO7A PCDH15 USH1C
30 x-linked nonsyndromic deafness 9.7 CDH23 MYO7A PCDH15 USH2A
31 mitochondrial non-syndromic sensorineural deafness 9.7 CDH23 MYO7A PCDH15 USH1C
32 trichomoniasis 9.6 CDH23 MYO7A PCDH15 USH1C USH2A
33 pierre robin syndrome 9.6 CDH23 MYO7A PCDH15 USH1C USH1G
34 46xy sex reversal 3 9.1 ADGRV1 CDH23 MYO7A PCDH15 USH1C USH1G
35 lissencephaly 8.9 ADGRV1 CDH23 CLRN1 MT-TS2 MYO7A PCDH15
36 peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads 8.8 ADGRV1 CDH23 CLRN1 MYO7A PCDH15 SLC4A7
37 deafness, autosomal dominant 11 8.8 ADGRV1 CDH23 CLRN1 MYO7A PCDH15 SLC4A7
38 sertoli cell-only syndrome 8.8 ADGRV1 CDH23 CLRN1 HARS MT-TS2 MYO7A
39 xeroderma pigmentosum group e 8.7 ADGRV1 CDH23 CLRN1 HARS MYO7A PCDH15
40 dyskeratosis congenita, autosomal dominant 1 8.6 ADGRV1 CDH23 CLRN1 HARS MT-TS2 MYO7A

Graphical network of the top 20 diseases related to Usher Syndrome, Type 3a:



Diseases related to Usher Syndrome, Type 3a

Symptoms & Phenotypes for Usher Syndrome, Type 3a

Symptoms by clinical synopsis from OMIM:

276902

Clinical features from OMIM:

276902

Human phenotypes related to Usher Syndrome, Type 3a:

56 32 (show all 23)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 56 32 Frequent (79-30%) HP:0001251
2 depression 56 32 Occasional (29-5%) HP:0000716
3 cataract 56 32 Frequent (79-30%) HP:0000518
4 hallucinations 56 32 Occasional (29-5%) HP:0000738
5 sensorineural hearing impairment 56 32 Very frequent (99-80%) HP:0000407
6 abnormal electroretinogram 56 32 Very frequent (99-80%) HP:0000512
7 anxiety 56 32 Occasional (29-5%) HP:0000739
8 visual loss 56 32 Very frequent (99-80%) HP:0000572
9 schizophrenia 56 32 Occasional (29-5%) HP:0100753
10 high-grade hypermetropia 56 32 Frequent (79-30%) HP:0008499
11 abnormality of cochlea 56 32 Very frequent (99-80%) HP:0000375
12 iris hypopigmentation 56 32 Very frequent (99-80%) HP:0007730
13 astigmatism 56 32 Frequent (79-30%) HP:0000483
14 scotoma 56 32 Very frequent (99-80%) HP:0000575
15 vestibular hypofunction 56 32 Very frequent (99-80%) HP:0001756
16 reduced visual acuity 32 HP:0007663
17 night blindness 56 Very frequent (99-80%)
18 visual field defect 32 HP:0001123
19 hemianopsia 56 Very frequent (99-80%)
20 rod-cone dystrophy 32 HP:0000510
21 vestibular dysfunction 32 HP:0001751
22 nyctalopia 32 HP:0000662
23 hemianopia 32 HP:0012377

MGI Mouse Phenotypes related to Usher Syndrome, Type 3a:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.85 SLC4A7 USH1C USH1G USH2A ADGRV1 CDH23
2 behavior/neurological MP:0005386 9.8 ADGRV1 CDH23 CLRN1 MYO7A PCDH15 USH1C
3 nervous system MP:0003631 9.61 ADGRV1 CDH23 CLRN1 MYO7A PCDH15 SLC4A7
4 vision/eye MP:0005391 9.28 ADGRV1 CDH23 CLRN1 MYO7A PCDH15 SLC4A7

Drugs & Therapeutics for Usher Syndrome, Type 3a

Interventional clinical trials:


id Name Status NCT ID Phase
1 Study of UshStat in Patients With Retinitis Pigmentosa Associated With Usher Syndrome Type 1B Recruiting NCT01505062 Phase 1, Phase 2
2 Retinal Imaging of Subjects Implanted With Ciliary Neurotrophic Factor (CNTF)-Releasing Encapsulated Cell Implant for Early-stage Retinitis Pigmentosa Active, not recruiting NCT01530659 Phase 2
3 Natural History and Genetic Studies of Usher Syndrome Active, not recruiting NCT00106743

Search NIH Clinical Center for Usher Syndrome, Type 3a

Genetic Tests for Usher Syndrome, Type 3a

Genetic tests related to Usher Syndrome, Type 3a:

id Genetic test Affiliating Genes
1 Usher Syndrome, Type 3a 29
2 Usher Syndrome Type 3 24 HARS
3 Usher Syndrome Type 3a 24 CLRN1

Anatomical Context for Usher Syndrome, Type 3a

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

39
Retina, Eye

Publications for Usher Syndrome, Type 3a

Articles related to Usher Syndrome, Type 3a:

id Title Authors Year
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

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

66
id Symbol AA change Variation ID SNP ID
1 CLRN1 p.Met120Lys VAR_012241 rs121908141
2 CLRN1 p.Asn48Lys VAR_030345 rs111033258
3 CLRN1 p.Leu150Pro VAR_030346 rs121908142
4 CLRN1 p.Cys40Gly VAR_054555 rs121908143
5 CLRN1 p.Ser105Pro VAR_054556
6 CLRN1 p.Ile168Asn VAR_071434

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

6 (show all 14)
id Gene Variation Type Significance SNP ID Assembly Location
1 CLRN1 NM_001195794.1(CLRN1): c.567T> G (p.Tyr189Ter) single nucleotide variant Pathogenic rs121908140 GRCh37 Chromosome 3, 150645894: 150645894
2 CLRN1 NM_001195794.1(CLRN1): c.359T> A (p.Met120Lys) single nucleotide variant Pathogenic rs121908141 GRCh37 Chromosome 3, 150659443: 150659443
3 CLRN1 CLRN1, 3-BP DEL, 459ATT deletion Pathogenic
4 CLRN1 NM_001195794.1(CLRN1): c.488T> C (p.Leu163Pro) single nucleotide variant Pathogenic rs121908142 GRCh37 Chromosome 3, 150645973: 150645973
5 CLRN1 NM_001195794.1(CLRN1): c.189C> A (p.Tyr63Ter) single nucleotide variant Pathogenic rs111033267 GRCh37 Chromosome 3, 150690307: 150690307
6 CLRN1 CLRN1, 23-BP DEL, NT187 deletion Pathogenic
7 CLRN1 NM_001195794.1(CLRN1): c.127G> A (p.Gly43Arg) single nucleotide variant Likely pathogenic rs111033434 GRCh37 Chromosome 3, 150690369: 150690369
8 CLRN1 NM_001195794.1(CLRN1): c.301_305delGTCAT (p.Val101Serfs) deletion Pathogenic/Likely pathogenic rs397517932 GRCh37 Chromosome 3, 150659497: 150659501
9 CLRN1 NM_174878.2(CLRN1): c.368C> A (p.Ala123Asp) single nucleotide variant Pathogenic/Likely pathogenic rs374963432 GRCh37 Chromosome 3, 150659434: 150659434
10 CLRN1 NM_174878.2(CLRN1): c.502dupA (p.Ile168Asnfs) duplication Likely pathogenic rs746523071 GRCh37 Chromosome 3, 150645920: 150645920
11 CLRN1 NM_174878.2(CLRN1): c.149_152delCAGGinsTGTCCAAT (p.Ser50Leufs) indel Pathogenic/Likely pathogenic rs786204428 GRCh37 Chromosome 3, 150690344: 150690347
12 CLRN1 NM_174878.2(CLRN1): c.619C> T (p.Arg207Ter) single nucleotide variant Pathogenic rs373208120 GRCh38 Chromosome 3, 150928016: 150928016
13 CLRN1 NM_174878.2(CLRN1): c.433+2dupT duplication Likely pathogenic rs1057516687 GRCh37 Chromosome 3, 150659367: 150659367
14 CLRN1 NM_174878.2(CLRN1): c.13C> T (p.Gln5Ter) single nucleotide variant Likely pathogenic rs1057517224 GRCh38 Chromosome 3, 150972696: 150972696

Expression for Usher Syndrome, Type 3a

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

Pathways for Usher Syndrome, Type 3a

GO Terms for Usher Syndrome, Type 3a

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

id Name GO ID Score Top Affiliating Genes
1 synapse GO:0045202 9.65 ADGRV1 MYO7A PCDH15 SLC4A7 USH1C
2 apical plasma membrane GO:0016324 9.63 MYO7A SLC4A7 USH2A
3 microvillus GO:0005902 9.54 CLRN1 MYO7A USH1C
4 photoreceptor outer segment GO:0001750 9.5 MYO7A PCDH15 USH1C
5 stereocilium bundle GO:0032421 9.4 PCDH15 USH2A
6 photoreceptor connecting cilium GO:0032391 9.33 MYO7A USH1G USH2A
7 photoreceptor inner segment GO:0001917 9.26 MYO7A USH1C USH1G USH2A
8 stereocilium GO:0032420 9.17 ADGRV1 CDH23 CLRN1 MYO7A PCDH15 SLC4A7
9 plasma membrane GO:0005886 10.03 ADGRV1 CDH23 CLRN1 PCDH15 SLC4A7 USH1C

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

(show all 15)
id Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 9.86 ADGRV1 CDH23 CLRN1 MYO7A PCDH15 USH1C
2 visual perception GO:0007601 9.85 ADGRV1 CDH23 CLRN1 MYO7A PCDH15 USH2A
3 response to stimulus GO:0050896 9.83 ADGRV1 CDH23 CLRN1 USH2A
4 sensory perception of light stimulus GO:0050953 9.76 ADGRV1 CDH23 CLRN1 MYO7A PCDH15 USH1C
5 inner ear receptor stereocilium organization GO:0060122 9.72 CDH23 MYO7A PCDH15 USH1C USH1G
6 inner ear morphogenesis GO:0042472 9.67 MYO7A USH1C USH1G
7 auditory receptor cell stereocilium organization GO:0060088 9.63 CLRN1 MYO7A PCDH15
8 auditory receptor cell differentiation GO:0042491 9.61 MYO7A PCDH15 USH1C
9 inner ear receptor cell differentiation GO:0060113 9.58 MYO7A USH1G USH2A
10 inner ear development GO:0048839 9.55 MYO7A PCDH15
11 actin filament bundle assembly GO:0051017 9.54 PCDH15 USH1C
12 auditory receptor cell development GO:0060117 9.51 CLRN1 SLC4A7
13 photoreceptor cell maintenance GO:0045494 9.5 ADGRV1 CDH23 CLRN1 PCDH15 USH1C USH1G
14 maintenance of animal organ identity GO:0048496 9.48 ADGRV1 USH2A
15 equilibrioception GO:0050957 9.1 CDH23 CLRN1 MYO7A PCDH15 USH1C USH1G

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

id Name GO ID Score Top Affiliating Genes
1 spectrin binding GO:0030507 8.8 MYO7A USH1C USH1G

Sources for Usher Syndrome, Type 3a

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
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42 MeSH
43 MESH via Orphanet
44 MGI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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