MCID: USH038
MIFTS: 45

Usher Syndrome, Type Iiia

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

Aliases & Classifications for Usher Syndrome, Type Iiia

MalaCards integrated aliases for Usher Syndrome, Type Iiia:

Name: Usher Syndrome, Type Iiia 53
Usher Syndrome Type 3 12 49 55 71 14
Ush3 53 12 49 55 71
Ush3a 53 12 49 71
Usher Syndrome, Type 3a 53 28 13
Usher Syndrome, Type Iii 53 69
Usher Syndrome Type 3a 12 14
Usher Syndrome, Type Iii; Ush3 53
Usher Syndrome Type Iiia 12
Usher's Syndrome Type 3 71
Usher Syndrome Type Iii 71
Usher Syndrome, Type 3 72
Usher Syndrome Iii 71
Usher Syndrome 3a 71

Characteristics:

Orphanet epidemiological data:

55
usher syndrome type 3
Inheritance: Autosomal recessive; Age of onset: Adolescent,Childhood;

OMIM:

53
Inheritance:
autosomal recessive

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


HPO:

31
usher syndrome, type iiia:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Usher Syndrome, Type Iiia

NIH Rare Diseases : 49 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 Iiia, also known as usher syndrome type 3, is related to usher syndrome, type ic and usher syndrome, type id, and has symptoms including ataxia, cataract and hallucinations. An important gene associated with Usher Syndrome, Type Iiia is CLRN1 (Clarin 1). Affiliated tissues include retina and eye, and related phenotypes are hearing/vestibular/ear and nervous system

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 : 53 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)

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.

Wikipedia : 72 Usher syndrome, also known as Hallgren syndrome, Usher-Hallgren syndrome, retinitis pigmentosa-dysacusis... more...

Related Diseases for Usher Syndrome, Type Iiia

Diseases in the Usher Syndrome family:

Usher Syndrome, Type I Usher Syndrome, Type Iia
Usher Syndrome, Type Iiia Usher Syndrome, Type Ic
Usher Syndrome, Type Id Usher Syndrome, Type if
Usher Syndrome, Type Iic Usher Syndrome, Type Ig
Usher Syndrome, Type Iid Usher Syndrome, Type Ih
Usher Syndrome, Type Iiib Usher Syndrome, Type Ij
Usher Syndrome, Type Ik Usher Syndrome Type 2
Usher Syndrome, Type 2b

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

(show all 36)
# Related Disease Score Top Affiliating Genes
1 usher syndrome, type ic 31.1 CDH23 MYO7A USH1C
2 usher syndrome, type id 28.8 ADGRV1 CDH23 MYO7A PCDH15 USH1C USH1G
3 usher syndrome, type i 28.5 ADGRV1 CDH23 CLRN1 MYO7A PCDH15 USH1C
4 usher syndrome 25.6 ADGRV1 CDH23 CEP78 CLRN1 HARS MT-TS2
5 usher syndrome, type iiib 11.0
6 usher syndrome, type ij 11.0
7 nonsyndromic retinitis pigmentosa 10.3 CLRN1 USH2A
8 rhyns syndrome 10.3 CLRN1 USH2A
9 usher syndrome, type iia 10.2 USH1C USH2A
10 dfnb1 10.1 MYO7A PCDH15
11 retinitis pigmentosa-deafness syndrome 10.1
12 deafness, autosomal dominant 20 10.1 USH1C USH1G
13 deafness, autosomal dominant 13 10.1 MYO7A USH2A
14 deafness, autosomal recessive 85 10.0 CDH23 MYO7A
15 deafness, autosomal recessive 83 10.0 CDH23 MYO7A
16 autosomal recessive nonsyndromic deafness 3 10.0 CDH23 MYO7A
17 perrault syndrome 10.0 CLRN1 HARS
18 deafness, autosomal dominant 6 9.9 CDH23 MYO7A
19 inner ear disease 9.8 CDH23 MYO7A
20 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.7 CDH23 MYO7A
21 deafness, autosomal recessive 23 9.7 CDH23 MYO7A PCDH15
22 auditory system disease 9.7 CDH23 MYO7A PCDH15
23 deafness, autosomal recessive 9.7 CDH23 PCDH15 USH1C
24 deafness, autosomal recessive 6 9.7 ADGRV1 MYO7A USH2A
25 retinal disease 9.6 MYO7A PCDH15 USH1C USH2A
26 sensorineural hearing loss 9.6 CDH23 CEP78 MYO7A USH2A
27 deafness, autosomal recessive 12 9.4 CDH23 MYO7A PCDH15 USH1C
28 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.4 CDH23 MYO7A PCDH15 USH1C
29 bardet-biedl syndrome 9.4 CDH23 MYO7A PCDH15 USH1C
30 usher syndrome, type ig 9.4 CDH23 MYO7A PCDH15 USH1G
31 nonsyndromic deafness 9.2 CDH23 MYO7A PCDH15 USH1C USH2A
32 usher syndrome, type if 9.1 CDH23 MYO7A PCDH15 USH1C USH1G
33 usher syndrome, type iid 8.2 ADGRV1 CDH23 MYO7A PCDH15 USH1C USH1G
34 usher syndrome, type iic 7.6 ADGRV1 CDH23 CLRN1 MYO7A PCDH15 SLC4A7
35 retinitis pigmentosa 7.6 ADGRV1 CDH23 CEP78 CLRN1 HARS MYO7A
36 usher syndrome type 2 7.4 ADGRV1 CDH23 CLRN1 HARS MYO7A PCDH15

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



Diseases related to Usher Syndrome, Type Iiia

Symptoms & Phenotypes for Usher Syndrome, Type Iiia

Symptoms via clinical synopsis from OMIM:

53
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 Iiia:

55 31 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 55 31 frequent (33%) Frequent (79-30%) HP:0001251
2 cataract 55 31 frequent (33%) Frequent (79-30%) HP:0000518
3 hallucinations 55 31 occasional (7.5%) Occasional (29-5%) HP:0000738
4 sensorineural hearing impairment 55 31 frequent (33%) Very frequent (99-80%) HP:0000407
5 abnormal electroretinogram 55 31 hallmark (90%) Very frequent (99-80%) HP:0000512
6 anxiety 55 31 occasional (7.5%) Occasional (29-5%) HP:0000739
7 nyctalopia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000662
8 visual loss 55 31 hallmark (90%) Very frequent (99-80%) HP:0000572
9 schizophrenia 55 31 occasional (7.5%) Occasional (29-5%) HP:0100753
10 iris hypopigmentation 55 31 hallmark (90%) Very frequent (99-80%) HP:0007730
11 astigmatism 55 31 frequent (33%) Frequent (79-30%) HP:0000483
12 scotoma 55 31 hallmark (90%) Very frequent (99-80%) HP:0000575
13 vestibular hypofunction 55 31 hallmark (90%) Very frequent (99-80%) HP:0001756
14 depression 55 Occasional (29-5%)
15 reduced visual acuity 31 HP:0007663
16 visual field defect 31 frequent (33%) HP:0001123
17 hemianopsia 55 Very frequent (99-80%)
18 high-grade hypermetropia 55 Frequent (79-30%)
19 abnormality of cochlea 55 Very frequent (99-80%)
20 rod-cone dystrophy 31 HP:0000510
21 vestibular dysfunction 31 frequent (33%) HP:0001751
22 high hypermetropia 31 frequent (33%) HP:0008499
23 depressivity 31 occasional (7.5%) HP:0000716
24 hemianopia 31 hallmark (90%) HP:0012377
25 abnormal cochlea morphology 31 hallmark (90%) HP:0000375

MGI Mouse Phenotypes related to Usher Syndrome, Type Iiia:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.85 ADGRV1 CDH23 CLRN1 HARS MYO7A PCDH15
2 nervous system MP:0003631 9.61 USH2A ADGRV1 CDH23 CLRN1 MYO7A PCDH15
3 vision/eye MP:0005391 9.28 ADGRV1 CDH23 CLRN1 MYO7A PCDH15 SLC4A7

Drugs & Therapeutics for Usher Syndrome, Type Iiia

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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 NT-501

Search NIH Clinical Center for Usher Syndrome, Type Iiia

Genetic Tests for Usher Syndrome, Type Iiia

Genetic tests related to Usher Syndrome, Type Iiia:

# Genetic test Affiliating Genes
1 Usher Syndrome, Type 3a 28 CLRN1

Anatomical Context for Usher Syndrome, Type Iiia

MalaCards organs/tissues related to Usher Syndrome, Type Iiia:

38
Retina, Eye

Publications for Usher Syndrome, Type Iiia

Articles related to Usher Syndrome, Type Iiia:

# Title Authors Year
1
Identification of a Novel CLRN1 Gene Mutation in Usher Syndrome Type 3: Two Case Reports. ( 25743179 )
2015
2
Two novel disease-causing mutations in the CLRN1 gene in patients with Usher syndrome type 3. ( 23304067 )
2012
3
Speech recognition and communication outcomes with cochlear implantation in Usher syndrome type 3. ( 22143301 )
2012
4
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
5
Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3. ( 11524702 )
2001

Variations for Usher Syndrome, Type Iiia

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

71
# 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 Iiia:

6 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 CLRN1 NM_001195794.1(CLRN1): c.127G> A (p.Gly43Arg) single nucleotide variant Likely pathogenic rs111033434 GRCh37 Chromosome 3, 150690369: 150690369
2 CLRN1 NM_001195794.1(CLRN1): c.301_305delGTCAT (p.Val101Serfs) deletion Pathogenic/Likely pathogenic rs397517932 GRCh37 Chromosome 3, 150659497: 150659501
3 CLRN1 NM_174878.2(CLRN1): c.368C> A (p.Ala123Asp) single nucleotide variant Pathogenic/Likely pathogenic rs374963432 GRCh37 Chromosome 3, 150659434: 150659434
4 CLRN1 NM_174878.2(CLRN1): c.502dupA (p.Ile168Asnfs) duplication Likely pathogenic rs746523071 GRCh37 Chromosome 3, 150645920: 150645920
5 CLRN1 NM_174878.2(CLRN1): c.149_152delCAGGinsTGTCCAAT (p.Ser50Leufs) indel Pathogenic/Likely pathogenic rs786204428 GRCh37 Chromosome 3, 150690344: 150690347
6 CLRN1 NM_001195794.1(CLRN1): c.567T> G (p.Tyr189Ter) single nucleotide variant Pathogenic rs121908140 GRCh37 Chromosome 3, 150645894: 150645894
7 CLRN1 NM_001195794.1(CLRN1): c.359T> A (p.Met120Lys) single nucleotide variant Pathogenic rs121908141 GRCh37 Chromosome 3, 150659443: 150659443
8 CLRN1 NM_001195794.1(CLRN1): c.498_500delATT (p.Ile166_Leu167delinsMet) deletion Pathogenic rs1085307049 GRCh37 Chromosome 3, 150645961: 150645963
9 CLRN1 NM_001195794.1(CLRN1): c.488T> C (p.Leu163Pro) single nucleotide variant Pathogenic rs121908142 GRCh37 Chromosome 3, 150645973: 150645973
10 CLRN1 NM_001195794.1(CLRN1): c.189C> A (p.Tyr63Ter) single nucleotide variant Pathogenic rs111033267 GRCh37 Chromosome 3, 150690307: 150690307
11 CLRN1 NM_001195794.1(CLRN1): c.188_210del23 (p.Tyr63Cysfs) deletion Pathogenic rs1085307050 GRCh37 Chromosome 3, 150690286: 150690308
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 Iiia

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

Pathways for Usher Syndrome, Type Iiia

GO Terms for Usher Syndrome, Type Iiia

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

# 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 ciliary basal body GO:0036064 9.61 CEP78 USH1G USH2A
4 microvillus GO:0005902 9.54 CLRN1 MYO7A USH1C
5 photoreceptor outer segment GO:0001750 9.5 MYO7A PCDH15 USH1C
6 stereocilium bundle GO:0032421 9.4 PCDH15 USH2A
7 photoreceptor connecting cilium GO:0032391 9.33 MYO7A USH1G USH2A
8 photoreceptor inner segment GO:0001917 9.26 MYO7A USH1C USH1G USH2A
9 stereocilium GO:0032420 9.17 ADGRV1 CDH23 CLRN1 MYO7A PCDH15 SLC4A7

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

(show all 15)
# 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 cell 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 inner ear 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 Iiia according to GeneCards Suite gene sharing:

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

Sources for Usher Syndrome, Type Iiia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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