MCID: USH038
MIFTS: 43

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 57
Usher Syndrome, Type 3a 57 29 13 6 40
Usher Syndrome Type 3 12 53 59 75 15
Ush3 57 12 53 59 75
Ush3a 57 12 53 75
Usher Syndrome, Type Iii 57 73
Usher Syndrome Type 3a 12 15
Usher Syndrome, Type Iii; Ush3 57
Usher Syndrome Type Iiia 12
Usher's Syndrome Type 3 75
Usher Syndrome Type Iii 75
Usher Syndrome, Type 3 76
Usher Syndrome Iii 75
Usher Syndrome 3a 75

Characteristics:

Orphanet epidemiological data:

59
usher syndrome type 3
Inheritance: Autosomal recessive; Age of onset: Adolescent,Childhood;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
usher syndrome, type iiia:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Usher Syndrome, Type Iiia

NIH Rare Diseases : 53 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.

MalaCards based summary : Usher Syndrome, Type Iiia, also known as usher syndrome, type 3a, is related to usher syndrome, type ic and retinitis pigmentosa-deafness syndrome. An important gene associated with Usher Syndrome, Type Iiia is CLRN1 (Clarin 1). Affiliated tissues include retina and eye, and related phenotypes are sensorineural hearing impairment and astigmatism

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 : 57 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 : 75 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 : 76 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 34)
# Related Disease Score Top Affiliating Genes
1 usher syndrome, type ic 30.9 CDH23 MYO7A USH1C
2 retinitis pigmentosa-deafness syndrome 27.5 ADGRV1 CDH23 MT-TS2 MYO7A PCDH15
3 usher syndrome, type id 27.2 ADGRV1 CDH23 MYO7A PCDH15 USH1C USH1G
4 usher syndrome, type i 26.7 ADGRV1 CDH23 CLRN1 MYO7A PCDH15 USH1C
5 usher syndrome 23.5 ADGRV1 CDH23 CEP78 CLRN1 HARS MYO7A
6 usher syndrome, type iiib 11.0
7 usher syndrome, type ij 11.0
8 nonsyndromic retinitis pigmentosa 10.5 CLRN1 USH2A
9 yemenite deaf-blind hypopigmentation syndrome 10.3 MYO7A USH2A
10 usher syndrome, type iia 10.2 USH1C USH2A
11 dfnb1 10.2 MYO7A PCDH15
12 deafness, autosomal dominant 13 10.1 MYO7A USH2A
13 deafness, autosomal recessive 85 10.0 CDH23 MYO7A
14 deafness, autosomal recessive 83 10.0 CDH23 MYO7A
15 deafness, autosomal dominant 20 10.0 USH1C USH1G
16 autosomal recessive nonsyndromic deafness 3 10.0 CDH23 MYO7A
17 deafness, autosomal dominant 6 9.9 CDH23 MYO7A
18 inner ear disease 9.6 CDH23 MYO7A
19 deafness, autosomal recessive 23 9.5 CDH23 MYO7A PCDH15
20 deafness, autosomal recessive 12 9.5 CDH23 MYO7A PCDH15
21 auditory system disease 9.5 CDH23 MYO7A PCDH15
22 deafness, autosomal recessive 6 9.5 ADGRV1 MYO7A USH2A
23 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.4 CDH23 MYO7A
24 retinal disease 9.4 MYO7A PCDH15 USH1C USH2A
25 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.1 CDH23 MYO7A PCDH15 USH1C
26 usher syndrome, type ig 9.0 CDH23 MYO7A PCDH15 USH1G
27 bardet-biedl syndrome 9.0 CDH23 MYO7A PCDH15 USH1C
28 sensorineural hearing loss 8.8 CDH23 CEP78 MYO7A PCDH15 USH2A
29 usher syndrome, type if 8.6 CDH23 MYO7A PCDH15 USH1C USH1G
30 usher syndrome, type iid 7.2 ADGRV1 CDH23 MYO7A PCDH15 USH1C USH1G
31 nonsyndromic deafness 7.2 ADGRV1 CDH23 MYO7A PCDH15 USH1C USH1G
32 usher syndrome, type iic 6.3 ADGRV1 CDH23 CLRN1 MYO7A PCDH15 SLC4A7
33 retinitis pigmentosa 6.1 ADGRV1 CDH23 CEP78 CLRN1 HARS MYO7A
34 usher syndrome type 2 5.9 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:

57
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:

59 32 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment 59 32 frequent (33%) Very frequent (99-80%) HP:0000407
2 astigmatism 59 32 frequent (33%) Frequent (79-30%) HP:0000483
3 abnormal electroretinogram 59 32 hallmark (90%) Very frequent (99-80%) HP:0000512
4 cataract 59 32 frequent (33%) Frequent (79-30%) HP:0000518
5 visual loss 59 32 hallmark (90%) Very frequent (99-80%) HP:0000572
6 scotoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0000575
7 nyctalopia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000662
8 depressivity 59 32 occasional (7.5%) Occasional (29-5%) HP:0000716
9 hallucinations 59 32 occasional (7.5%) Occasional (29-5%) HP:0000738
10 anxiety 59 32 occasional (7.5%) Occasional (29-5%) HP:0000739
11 ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0001251
12 vestibular hypofunction 59 32 hallmark (90%) Very frequent (99-80%) HP:0001756
13 iris hypopigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007730
14 schizophrenia 59 32 occasional (7.5%) Occasional (29-5%) HP:0100753
15 abnormality of cochlea 59 Very frequent (99-80%)
16 high-grade hypermetropia 59 Frequent (79-30%)
17 hemianopsia 59 Very frequent (99-80%)
18 rod-cone dystrophy 32 HP:0000510
19 visual field defect 32 frequent (33%) HP:0001123
20 vestibular dysfunction 32 frequent (33%) HP:0001751
21 reduced visual acuity 32 HP:0007663
22 abnormal cochlea morphology 32 hallmark (90%) HP:0000375
23 high hypermetropia 32 frequent (33%) HP:0008499
24 hemianopia 32 hallmark (90%) HP:0012377

MGI Mouse Phenotypes related to Usher Syndrome, Type Iiia:

46
# 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 ADGRV1 CDH23 CLRN1 MYO7A PCDH15 SLC4A7
4 vision/eye MP:0005391 9.28 USH1C USH1G USH2A ADGRV1 CDH23 CLRN1

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 29 CLRN1

Anatomical Context for Usher Syndrome, Type Iiia

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

41
Retina, Eye

Publications for Usher Syndrome, Type Iiia

Articles related to Usher Syndrome, Type Iiia:

# 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 Iiia

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

75
# 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 28)
# 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.567T> G (p.Tyr189Ter) single nucleotide variant Pathogenic rs121908140 GRCh38 Chromosome 3, 150928107: 150928107
3 CLRN1 NM_001195794.1(CLRN1): c.359T> A (p.Met120Lys) single nucleotide variant Pathogenic rs121908141 GRCh37 Chromosome 3, 150659443: 150659443
4 CLRN1 NM_001195794.1(CLRN1): c.359T> A (p.Met120Lys) single nucleotide variant Pathogenic rs121908141 GRCh38 Chromosome 3, 150941656: 150941656
5 CLRN1 NM_001195794.1(CLRN1): c.498_500delATT (p.Ile166_Leu167delinsMet) deletion Pathogenic rs1085307049 GRCh37 Chromosome 3, 150645961: 150645963
6 CLRN1 NM_001195794.1(CLRN1): c.498_500delATT (p.Ile166_Leu167delinsMet) deletion Pathogenic rs1085307049 GRCh38 Chromosome 3, 150928174: 150928176
7 CLRN1 NM_001195794.1(CLRN1): c.488T> C (p.Leu163Pro) single nucleotide variant Pathogenic rs121908142 GRCh37 Chromosome 3, 150645973: 150645973
8 CLRN1 NM_001195794.1(CLRN1): c.488T> C (p.Leu163Pro) single nucleotide variant Pathogenic rs121908142 GRCh38 Chromosome 3, 150928186: 150928186
9 CLRN1 NM_001195794.1(CLRN1): c.189C> A (p.Tyr63Ter) single nucleotide variant Pathogenic rs111033267 GRCh37 Chromosome 3, 150690307: 150690307
10 CLRN1 NM_001195794.1(CLRN1): c.189C> A (p.Tyr63Ter) single nucleotide variant Pathogenic rs111033267 GRCh38 Chromosome 3, 150972520: 150972520
11 CLRN1 NM_001195794.1(CLRN1): c.188_210del23 (p.Tyr63Cysfs) deletion Pathogenic rs1085307050 GRCh37 Chromosome 3, 150690286: 150690308
12 CLRN1 NM_001195794.1(CLRN1): c.188_210del23 (p.Tyr63Cysfs) deletion Pathogenic rs1085307050 GRCh38 Chromosome 3, 150972499: 150972521
13 CLRN1 NM_001195794.1(CLRN1): c.127G> A (p.Gly43Arg) single nucleotide variant Likely pathogenic rs111033434 GRCh38 Chromosome 3, 150972582: 150972582
14 CLRN1 NM_001195794.1(CLRN1): c.127G> A (p.Gly43Arg) single nucleotide variant Likely pathogenic rs111033434 GRCh37 Chromosome 3, 150690369: 150690369
15 CLRN1 NM_001195794.1(CLRN1): c.301_305delGTCAT (p.Val101Serfs) deletion Pathogenic/Likely pathogenic rs397517932 GRCh37 Chromosome 3, 150659497: 150659501
16 CLRN1 NM_001195794.1(CLRN1): c.301_305delGTCAT (p.Val101Serfs) deletion Pathogenic/Likely pathogenic rs397517932 GRCh38 Chromosome 3, 150941710: 150941714
17 CLRN1 NM_174878.2(CLRN1): c.368C> A (p.Ala123Asp) single nucleotide variant Pathogenic/Likely pathogenic rs374963432 GRCh37 Chromosome 3, 150659434: 150659434
18 CLRN1 NM_174878.2(CLRN1): c.368C> A (p.Ala123Asp) single nucleotide variant Pathogenic/Likely pathogenic rs374963432 GRCh38 Chromosome 3, 150941647: 150941647
19 CLRN1 NM_174878.2(CLRN1): c.502dupA (p.Ile168Asnfs) duplication Likely pathogenic rs746523071 GRCh37 Chromosome 3, 150645920: 150645920
20 CLRN1 NM_174878.2(CLRN1): c.502dupA (p.Ile168Asnfs) duplication Likely pathogenic rs746523071 GRCh38 Chromosome 3, 150928133: 150928133
21 CLRN1 NM_174878.2(CLRN1): c.149_152delCAGGinsTGTCCAAT (p.Ser50Leufs) indel Pathogenic/Likely pathogenic rs786204428 GRCh37 Chromosome 3, 150690344: 150690347
22 CLRN1 NM_174878.2(CLRN1): c.149_152delCAGGinsTGTCCAAT (p.Ser50Leufs) indel Pathogenic/Likely pathogenic rs786204428 GRCh38 Chromosome 3, 150972557: 150972560
23 CLRN1 NM_174878.2(CLRN1): c.619C> T (p.Arg207Ter) single nucleotide variant Pathogenic rs373208120 GRCh38 Chromosome 3, 150928016: 150928016
24 CLRN1 NM_174878.2(CLRN1): c.619C> T (p.Arg207Ter) single nucleotide variant Pathogenic rs373208120 GRCh37 Chromosome 3, 150645803: 150645803
25 CLRN1 NM_174878.2(CLRN1): c.433+2dupT duplication Likely pathogenic rs1057516687 GRCh37 Chromosome 3, 150659367: 150659367
26 CLRN1 NM_174878.2(CLRN1): c.433+2dupT duplication Likely pathogenic rs1057516687 GRCh38 Chromosome 3, 150941580: 150941580
27 CLRN1 NM_174878.2(CLRN1): c.13C> T (p.Gln5Ter) single nucleotide variant Likely pathogenic rs1057517224 GRCh38 Chromosome 3, 150972696: 150972696
28 CLRN1 NM_174878.2(CLRN1): c.13C> T (p.Gln5Ter) single nucleotide variant Likely pathogenic rs1057517224 GRCh37 Chromosome 3, 150690483: 150690483

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:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 synapse GO:0045202 9.77 ADGRV1 MYO7A PCDH15 SLC4A7 USH1C
2 apical plasma membrane GO:0016324 9.67 MYO7A SLC4A7 USH2A
3 ciliary basal body GO:0036064 9.65 CEP78 USH1G USH2A
4 microvillus GO:0005902 9.61 CLRN1 MYO7A USH1C
5 photoreceptor outer segment GO:0001750 9.58 MYO7A PCDH15 USH1C
6 stereocilium bundle GO:0032421 9.46 PCDH15 USH2A
7 photoreceptor inner segment GO:0001917 9.46 MYO7A USH1C USH1G USH2A
8 stereocilia ankle link GO:0002141 9.32 USH1C USH2A
9 stereocilia ankle link complex GO:0002142 9.26 USH1C USH2A
10 photoreceptor connecting cilium GO:0032391 9.26 MYO7A USH1C USH1G USH2A
11 stereocilium GO:0032420 9.1 ADGRV1 CDH23 MYO7A PCDH15 SLC4A7 USH1C

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

(show all 14)
# 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 cell stereocilium organization GO:0060122 9.72 CDH23 MYO7A PCDH15 USH1C USH1G
6 inner ear morphogenesis GO:0042472 9.65 MYO7A USH1C USH1G
7 inner ear 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 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
17 ExPASy
19 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 MedGen
44 MeSH
45 MESH via Orphanet
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49 NCI
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51 NDF-RT
54 NINDS
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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