MCID: USH033
MIFTS: 44

Usher Syndrome, Type 3a

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

Aliases & Classifications for Usher Syndrome, Type 3a

MalaCards integrated aliases for Usher Syndrome, Type 3a:

Name: Usher Syndrome, Type 3a 54 29 13
Usher Syndrome Type 3 12 50 24 56 71 14
Ush3a 12 50 24 71
Ush3 12 50 56 71
Usher Syndrome Type 3a 12 24 14
Usher Syndrome Type Iiia 12
Usher Syndrome, Type Iii 69
Usher Syndrome Type Iii 71
Usher's Syndrome Type 3 71
Usher Syndrome Iii 71
Usher Syndrome 3a 71

Characteristics:

Orphanet epidemiological data:

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

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
increased frequency in finland
ush3 cases account for 40% of all usher patients in finland


HPO:

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


Classifications:



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 2a and usher syndrome type 3b, and has symptoms including ataxia, depression and hallucinations. 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

UniProtKB/Swiss-Prot : 71 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.

OMIM : 54
Usher syndrome type III 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 (Karjalainen et al., 1985; Pakarinen et al., 1995). For a discussion of phenotypic heterogeneity of Usher syndrome, see USH1 (276900). (276902)

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.

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 43)
id Related Disease Score Top Affiliating Genes
1 usher syndrome, type 2a 31.8 USH1C USH2A
2 usher syndrome type 3b 11.1
3 usher syndrome, type 2c 10.9
4 usher syndrome, type 2d 10.9
5 usher syndrome, type 1d 10.9
6 usher syndrome, type 1f 10.9
7 usher syndrome, type 1c 10.9
8 usher syndrome, type 1b 10.9
9 usher syndrome, type ij 10.9
10 usher syndrome, type 1g 10.9
11 otof-related deafness 10.5 CLRN1 USH2A
12 osteopoikilosis and dacryocystitis 10.4 CLRN1 USH2A
13 colorectal adenocarcinoma 10.3 CLRN1 HARS
14 diabetes persistent mullerian ducts 10.2 MYO7A PCDH15
15 autosomal dominant nonsyndromic deafness 69 10.1 USH1C USH1G
16 deafness, autosomal recessive 53 10.1 MYO7A USH2A
17 bifid nose with or without anorectal and renal anomalies 10.1 CDH23 MYO7A
18 ectodermal dysplasia 6, hair/nail type 10.1 CDH23 MYO7A
19 congenital muscular dystrophy due to lmna mutation 10.0 CDH23 MYO7A
20 autosomal recessive nonsyndromic deafness 8 9.9 CDH23 MYO7A
21 usher syndrome 9.9
22 endometritis 9.8 CDH23 MYO7A USH2A
23 mixed lacrimal gland cancer 9.8 CDH23 MYO7A
24 hyperphenylalaninemia, mild, non-bh4-deficient 9.7 CDH23 MYO7A PCDH15
25 narcissistic personality disorder 9.6 CDH23 MYO7A PCDH15
26 robinow syndrome, autosomal dominant 1 9.6 ADGRV1 MYO7A USH2A
27 dihydrolipoamide dehydrogenase deficiency 9.6 CDH23 MYO7A
28 hereditary breast ovarian cancer 9.5 MYO7A PCDH15 USH1C USH2A
29 deafness, autosomal recessive 23 9.4 MYO7A PCDH15 USH1C USH1G
30 deafness, autosomal recessive 18a 9.3 CDH23 MYO7A USH1C USH1G
31 pituitary adenoma 9.3 CDH23 MYO7A PCDH15 USH1C
32 discrete papular lichen myxedematosus 9.3 CDH23 MYO7A PCDH15 USH1C
33 trichomoniasis 8.9 CDH23 MYO7A PCDH15 USH1C USH2A
34 amelogenesis imperfecta, type ig 8.8 CDH23 MYO7A PCDH15 USH1C USH1G
35 asthma-related traits 8 7.7 ADGRV1 CDH23 MYO7A PCDH15 USH1C USH1G
36 deafness, autosomal recessive 12 7.7 ADGRV1 CDH23 MYO7A PCDH15 USH1C USH1G
37 autosomal recessive nonsyndromic deafness 7.6 ADGRV1 CDH23 MYO7A PCDH15 USH1C USH1G
38 scar contracture 7.1 ADGRV1 CDH23 CLRN1 HARS MYO7A PCDH15
39 trichohepatoenteric syndrome 1 6.9 ADGRV1 CDH23 CLRN1 MYO7A PCDH15 SLC4A7
40 deafness, autosomal recessive 2 6.9 ADGRV1 CDH23 CLRN1 MYO7A PCDH15 SLC4A7
41 usher syndrome type 1h 6.6 ADGRV1 CDH23 CLRN1 HARS MYO7A PCDH15
42 retinitis pigmentosa 61 6.2 ADGRV1 CDH23 CLRN1 HARS MT-TS2 MYO7A
43 brugada syndrome 6.2 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 via clinical synopsis from OMIM:

54

Head And Neck- Nose:
nyctalopia
retinitis pigmentosa
progressive restriction of visual feilds
reduction of central visual acuity

Head And Neck- Eyes:
hearing loss, sensorineural, progressive post-lingual
vestibular dysfunction, variable


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 (33%) Frequent (79-30%) HP:0001251
2 depression 56 32 occasional (7.5%) Occasional (29-5%) HP:0000716
3 hallucinations 56 32 occasional (7.5%) Occasional (29-5%) HP:0000738
4 cataract 56 32 frequent (33%) Frequent (79-30%) HP:0000518
5 astigmatism 56 32 frequent (33%) Frequent (79-30%) HP:0000483
6 schizophrenia 56 32 occasional (7.5%) Occasional (29-5%) HP:0100753
7 sensorineural hearing impairment 56 32 frequent (33%) Very frequent (99-80%) HP:0000407
8 anxiety 56 32 occasional (7.5%) Occasional (29-5%) HP:0000739
9 vestibular hypofunction 56 32 hallmark (90%) Very frequent (99-80%) HP:0001756
10 visual loss 56 32 hallmark (90%) Very frequent (99-80%) HP:0000572
11 abnormal electroretinogram 56 32 hallmark (90%) Very frequent (99-80%) HP:0000512
12 high-grade hypermetropia 56 32 frequent (33%) Frequent (79-30%) HP:0008499
13 abnormality of cochlea 56 32 hallmark (90%) Very frequent (99-80%) HP:0000375
14 iris hypopigmentation 56 32 hallmark (90%) Very frequent (99-80%) HP:0007730
15 scotoma 56 32 hallmark (90%) Very frequent (99-80%) HP:0000575
16 nyctalopia 32 hallmark (90%) HP:0000662
17 reduced visual acuity 32 HP:0007663
18 night blindness 56 Very frequent (99-80%)
19 rod-cone dystrophy 32 HP:0000510
20 visual field defect 32 frequent (33%) HP:0001123
21 vestibular dysfunction 32 frequent (33%) HP:0001751
22 hemianopsia 56 Very frequent (99-80%)
23 hemianopia 32 hallmark (90%) 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 ADGRV1 CDH23 CLRN1 HARS MYO7A PCDH15
2 behavior/neurological MP:0005386 9.8 ADGRV1 CDH23 CLRN1 MYO7A PCDH15 USH1C
3 nervous system MP:0003631 9.61 PCDH15 SLC4A7 USH1C USH1G USH2A ADGRV1
4 vision/eye MP:0005391 9.28 ADGRV1 CDH23 CLRN1 MYO7A PCDH15 SLC4A7

Drugs & Therapeutics for Usher Syndrome, Type 3a

Search Clinical Trials , 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:

71
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 NM_001195794.1(CLRN1): c.498_500delATT (p.Ile166_Leu167delinsMet) deletion Pathogenic rs1085307049 GRCh37 Chromosome 3, 150645961: 150645963
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 NM_001195794.1(CLRN1): c.188_210del23 (p.Tyr63Cysfs) deletion Pathogenic rs1085307050 GRCh37 Chromosome 3, 150690286: 150690308
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 9.1 ADGRV1 CDH23 MYO7A PCDH15 SLC4A7 USH1C
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 14)
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 9.81 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 9.65 MYO7A USH1C USH1G
7 auditory receptor cell differentiation GO:0042491 9.61 MYO7A PCDH15 USH1C
8 inner ear receptor cell differentiation GO:0060113 9.58 MYO7A USH1G USH2A
9 inner ear development GO:0048839 9.54 MYO7A PCDH15
10 actin filament bundle assembly GO:0051017 9.52 PCDH15 USH1C
11 photoreceptor cell maintenance GO:0045494 9.5 ADGRV1 CDH23 CLRN1 PCDH15 USH1C USH1G
12 auditory receptor cell stereocilium organization GO:0060088 9.49 MYO7A PCDH15
13 maintenance of animal organ identity GO:0048496 9.46 ADGRV1 USH2A
14 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
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43 MESH via Orphanet
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55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
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69 UMLS
70 UMLS via Orphanet
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