USH3A
MCID: USH038
MIFTS: 53

Usher Syndrome, Type Iiia (USH3A)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Usher Syndrome, Type Iiia

MalaCards integrated aliases for Usher Syndrome, Type Iiia:

Name: Usher Syndrome, Type Iiia 57
Usher Syndrome Type 3 11 58 73 28 5 14
Usher Syndrome Type 3a 11 19 28 5 14
Ush3 57 11 19 58 73
Ush3a 57 11 19 73
Usher Syndrome, Type Iii 57 71
Usher Syndrome, Type 3 75 12
Usher Syndrome Type Iiia 11
Usher Syndrome, Type 3a 57
Usher's Syndrome Type 3 73
Usher Syndrome Type Iii 73
Usher Syndrome Iii 73
Usher Syndrome 3a 73

Characteristics:


Inheritance:

Usher Syndrome, Type Iiia: Autosomal recessive 57
Usher Syndrome Type 3: Autosomal recessive 58

Prevelance:

Usher Syndrome Type 3: 1-9/1000000 (Denmark) 1-9/100000 (Specific population) 58

Age Of Onset:

Usher Syndrome Type 3: Adolescent,Childhood 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
increased frequency in finland
ush3 cases account for 40% of all usher patients in finland


Classifications:

Orphanet: 58  
Rare eye diseases
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 11 DOID:0110828 DOID:0110841
OMIM® 57 276902
OMIM Phenotypic Series 57 PS276900
MeSH 43 D052245
NCIt 49 C126329
ICD10 31 H35.5
ICD10 via Orphanet 32 H35.5
UMLS via Orphanet 72 C1568248
Orphanet 58 ORPHA231183
MedGen 40 C1568248
UMLS 71 C1568248

Summaries for Usher Syndrome, Type Iiia

GARD: 19 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). It is inherited in an autosomal recessive manner.

MalaCards based summary: Usher Syndrome, Type Iiia, also known as usher syndrome type 3, is related to usher syndrome, type ij and usher syndrome, type if. An important gene associated with Usher Syndrome, Type Iiia is CLRN1 (Clarin 1), and among its related pathways/superpathways are Olfactory Signaling Pathway and Sensory processing of sound. Affiliated tissues include eye, retina and brain, and related phenotypes are sensorineural hearing impairment and abnormal electroretinogram

UniProtKB/Swiss-Prot: 73 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.

Orphanet: 58 A rare ciliopathy characterized by progressive hearing and visual loss in the first decades of life and, in some cases, vestibular dysfunction. Patients have normal hearing at birth. Onset of hearing loss is usually in late childhood or adolescence after development of speech. Profound deafness is mostly reported by middle age. Retinitis pigmentosa related visual loss also develops in late childhood or adolescence. Developmental motor milestones are generally normal but vestibular dysfunction may occur in adulthood.

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) (Updated 08-Dec-2022)

Disease Ontology 11 Usher syndrome type 3: 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.

Usher syndrome type 3a: An Usher syndrome type 3 that has material basis in homozygous or compound heterozygous mutation in the CLRN1 gene on chromosome 3q25.

Wikipedia: 75 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 Iv
Usher Syndrome, Type 1m Usher Syndrome Type 2

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

(show top 50) (show all 98)
# Related Disease Score Top Affiliating Genes
1 usher syndrome, type ij 32.1 WHRN TMC2
2 usher syndrome, type if 31.8 USH1G USH1C MYO7A
3 usher syndrome, type iic 31.8 WHRN USH1C MYO15A
4 usher syndrome, type id 31.7 WHRN USH1G USH1C TMC1 MYO7A MYO15A
5 usher syndrome, type ig 31.6 WHRN USH1G USH1C TMC2 MYO7A
6 usher syndrome, type iid 31.6 WHRN USH1G USH1C MYO7A MYO15A CLRN1
7 usher syndrome, type ic 31.5 WHRN USH1G USH1C TMC2 TMC1 MYO7A
8 polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 30.8 WHRN CEP78 ARSG
9 usher syndrome, type iia 30.5 WHRN USH1G USH1C TMC1 MYO7A MYO15A
10 deafness, autosomal recessive 15 30.3 USH1C MYO15A
11 usher syndrome type 2 30.3 WHRN USH1G USH1C TMC1 MYO7A MYO15A
12 rare genetic deafness 30.0 WHRN USH1C TMC1 MYO7A MYO15A CLRN1-AS1
13 fundus dystrophy 29.9 WHRN USH1G USH1C MYO7A CLRN1-AS1 CLRN1
14 cone-rod dystrophy 2 29.8 WHRN USH1G USH1C TMC1 MYO7A CLRN1-AS1
15 usher syndrome, type i 29.7 WHRN USH1G USH1C TMC2 TMC1 MYO7A
16 usher syndrome 29.6 WHRN USH1G USH1C TMC2 TMC1 MYO7A
17 sensorineural hearing loss 29.3 WHRN USH1G USH1C TMC2 TMC1 MYO7A
18 retinitis pigmentosa 29.3 WHRN USH1G USH1C TMC2 TMC1 MYO7A
19 usher syndrome, type iiib 11.0
20 usher syndrome, type ih 10.9
21 usher syndrome, type ik 10.9
22 usher syndrome, type 1m 10.9
23 ceroid lipofuscinosis, neuronal, 5 10.4
24 deafness, autosomal recessive 31 10.4 WHRN CLRN1
25 retinitis pigmentosa-deafness syndrome 10.4 MYO7A MT-TS2
26 deafness, autosomal recessive 3 10.4 MYO7A MYO15A
27 deafness, autosomal dominant 48 10.3 MYO7A MYO15A
28 deafness, autosomal dominant 65 10.3 USH1C CLRN2
29 cochlear disease 10.3 WHRN TMC1
30 leber congenital amaurosis with early-onset deafness 10.3 WHRN USH1G CLRN1
31 deafness and myopia 10.3 MYO7A MYO15A
32 autosomal recessive nonsyndromic deafness 36 10.3 WHRN USH1C MYO15A
33 deafness, autosomal recessive 102 10.3 WHRN MYO15A
34 deafness, autosomal recessive 57 10.3 WHRN USH1G USH1C
35 deafness, autosomal recessive 76 10.3 TMC1 MYO7A
36 labyrinthitis 10.3 MYO7A ATOH1
37 deafness, autosomal recessive 25 10.3 USH1C MYO15A
38 deafness, autosomal recessive 30 10.3 WHRN MYO7A MYO15A
39 deafness, autosomal recessive 83 10.3 MYO7A MYO15A LHFPL5
40 acute hemorrhagic leukoencephalitis 10.3 TMC2 MYO7A CLRN2
41 deafness, autosomal dominant 17 10.3 MYO7A MYO15A
42 deafness, autosomal recessive 103 10.3 TMC2 TMC1
43 y-linked deafness 10.3 USH1C TMC1 MYO15A
44 deafness, autosomal recessive 79 10.3 WHRN MYO15A
45 drug-induced hearing loss 10.3 MYO7A ATOH1
46 deafness, autosomal recessive 49 10.3 WHRN MYO15A
47 deafness, autosomal recessive 7 10.3 USH1C TMC2 TMC1
48 deafness, autosomal recessive 1b 10.3 TMC1 MYO15A LHFPL5
49 deafness, autosomal dominant 22 10.3 TMC1 MYO7A MYO15A
50 deafness, autosomal recessive 18a 10.3 WHRN USH1C MYO7A MYO15A

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

Human phenotypes related to Usher Syndrome, Type Iiia:

58 30 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment 58 30 Very rare (1%) Very frequent (99-80%)
HP:0000407
2 abnormal electroretinogram 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000512
3 nyctalopia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000662
4 abnormal cochlea morphology 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000375
5 scotoma 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000575
6 iris hypopigmentation 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0007730
7 hemianopia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0012377
8 visual loss 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000572
9 vestibular hypofunction 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001756
10 ataxia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001251
11 cataract 58 30 Frequent (33%) Frequent (79-30%)
HP:0000518
12 high hypermetropia 58 30 Frequent (33%) Frequent (79-30%)
HP:0008499
13 astigmatism 58 30 Frequent (33%) Frequent (79-30%)
HP:0000483
14 visual field defect 30 Frequent (33%) HP:0001123
15 depression 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000716
16 hallucinations 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000738
17 anxiety 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000739
18 schizophrenia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100753
19 reduced visual acuity 30 Very rare (1%) HP:0007663
20 rod-cone dystrophy 30 Very rare (1%) HP:0000510
21 vestibular dysfunction 30 Very rare (1%) HP:0001751

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Eyes:
nyctalopia
retinitis pigmentosa
progressive restriction of visual fields
reduction of central visual acuity

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

Clinical features from OMIM®:

276902 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Usher Syndrome, Type Iiia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.1 ARSG ATOH1 CACNG2 CLRN1 CLRN2 ELMOD1
2 hearing/vestibular/ear MP:0005377 10 ATOH1 CACNG2 CLRN1 CLRN2 ELMOD1 HARS1
3 behavior/neurological MP:0005386 9.8 ARSG ATOH1 CACNG2 CLRN1 CLRN2 ELMOD1
4 vision/eye MP:0005391 9.28 ARSG CLRN1 CLRN2 CLRN3 MYO15A MYO7A

Drugs & Therapeutics for Usher Syndrome, Type Iiia

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Photoreceptor Structure in A Phase 2 Study of Encapsulated Human NTC-201 Cell Implants Releasing Ciliary Neurotrophic Factor (CNTF) for Participants With Retinitis Pigmentosa Using Rates of Change in Cone Spacing and Density Completed 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 3 28
2 Usher Syndrome Type 3a 28 CLRN1

Anatomical Context for Usher Syndrome, Type Iiia

Organs/tissues related to Usher Syndrome, Type Iiia:

MalaCards : Eye, Retina, Brain
ODiseA: Brain

Publications for Usher Syndrome, Type Iiia

Articles related to Usher Syndrome, Type Iiia:

(show top 50) (show all 111)
# Title Authors PMID Year
1
Mutation screening of USH3 gene (clarin-1) in Spanish patients with Usher syndrome: low prevalence and phenotypic variability. 62 57 5
15521980 2004
2
Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III. 62 57 5
14569126 2003
3
Usher syndrome type III: revised genomic structure of the USH3 gene and identification of novel mutations. 62 57 5
12145752 2002
4
USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses. 62 57 5
12080385 2002
5
Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3. 62 57 5
11524702 2001
6
Zebrafish Models for the Mechanosensory Hair Cell Dysfunction in Usher Syndrome 3 Reveal That Clarin-1 Is an Essential Hair Bundle Protein. 62 5
26180195 2015
7
The mechanosensory structure of the hair cell requires clarin-1, a protein encoded by Usher syndrome III causative gene. 62 5
22787034 2012
8
Two novel disease-causing mutations in the CLRN1 gene in patients with Usher syndrome type 3. 62 5
23304067 2012
9
A novel 5-bp deletion in Clarin 1 in a family with Usher syndrome. 62 5
21675857 2011
10
Disease-causing mutations in the CLRN1 gene alter normal CLRN1 protein trafficking to the plasma membrane. 62 5
19753315 2009
11
Usher syndrome IIIA gene clarin-1 is essential for hair cell function and associated neural activation. 62 57
19414487 2009
12
Clarin-1, encoded by the Usher Syndrome III causative gene, forms a membranous microdomain: possible role of clarin-1 in organizing the actin cytoskeleton. 62 5
19423712 2009
13
Retinal disease in Usher syndrome III caused by mutations in the clarin-1 gene. 62 5
18281613 2008
14
Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II. 62 5
18273898 2008
15
Two truncating USH3A mutations, including one novel, in a German family with Usher syndrome. 62 5
17893653 2007
16
Development of a genotyping microarray for Usher syndrome. 62 5
16963483 2007
17
Audiological and vestibular features in affected subjects with USH3: a genotype/phenotype correlation. 62 5
16028794 2005
18
Possible interaction between USH1B and USH3 gene products as implied by apparent digenic deafness inheritance. 62 57
10364543 1999
19
Usher syndrome type III (USH3) linked to chromosome 3q in an Italian family. 62 57
9719374 1998
20
Refined mapping of the Usher syndrome type III locus on chromosome 3, exclusion of candidate genes, and identification of the putative mouse homologous region. 62 57
8975700 1996
21
Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q. 62 57
7711740 1995
22
The ophthalmological course of Usher syndrome type III. 62 57
8864816 1995
23
Histopathology of the inner ear in Usher's syndrome as observed by light and electron microscopy. 62 57
3717858 1986
24
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. 5
28041643 2017
25
Strategies for genetic study of hearing loss in the Brazilian northeastern region. 5
24596593 2014
26
Molecular diagnosis of Usher syndrome: application of two different next generation sequencing-based procedures. 5
22952768 2012
27
Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study. 5
22135276 2012
28
Phenotypes in defined genotypes including siblings with Usher syndrome. 57
21174530 2011
29
Deafblindness in French Canadians from Quebec: a predominant founder mutation in the USH1C gene provides the first genetic link with the Acadian population. 5
17407589 2007
30
Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins. 57
9382091 1997
31
Clinical variability and genetic heterogeneity within the Acadian Usher population. 57
1415347 1992
32
Retinal Phenotype of Patients with CLRN1-Associated Usher 3A Syndrome in French Light4Deaf Cohort. 62
35481838 2022
33
The genetic and phenotypic landscapes of Usher syndrome: from disease mechanisms to a new classification. 62
35353227 2022
34
Usher syndrome IIIA: a review of the disorder and preclinical research advances in therapeutic approaches. 62
35320418 2022
35
Review of Genotype-Phenotype Correlations in Usher Syndrome. 62
34039936 2022
36
AAV-S: A versatile capsid variant for transduction of mouse and primate inner ear. 62
33869656 2021
37
A rare case of type 3 usher syndrome with bilateral cystoid macular edema treated with topical dorzolamide. 62
34295626 2021
38
Antisense Oligonucleotide- and CRISPR-Cas9-Mediated Rescue of mRNA Splicing for a Deep Intronic CLRN1 Mutation. 62
32841912 2020
39
Bi-allelic mutations in HARS1 severely impair histidyl-tRNA synthetase expression and enzymatic activity causing a novel multisystem ataxic syndrome. 62
32333447 2020
40
Clarin-1 expression in adult mouse and human retina highlights a role of Müller glia in Usher syndrome. 62
31625146 2020
41
Similarities and Differences in Health, Social Trust, and Financial Situation in People With Usher Syndrome, a Bio-Psychosocial Perspective. 62
32982818 2020
42
Identification of whirlin domains interacting with espin: A study of the mechanism of Usher syndrome type II. 62
31638198 2019
43
Full-field electroretinography, visual acuity and visual fields in Usher syndrome: a multicentre European study. 62
31267413 2019
44
A novel ABHD12 nonsense variant in Usher syndrome type 3 family with genotype-phenotype spectrum review. 62
30974196 2019
45
Gene Transfer with AAV9-PHP.B Rescues Hearing in a Mouse Model of Usher Syndrome 3A and Transduces Hair Cells in a Non-human Primate. 62
30581889 2019
46
Unconventional secretory pathway activation restores hair cell mechanotransduction in an USH3A model. 62
31097578 2019
47
Clarin-1 gene transfer rescues auditory synaptopathy in model of Usher syndrome. 62
29985171 2018
48
The Genetics of Usher Syndrome in the Israeli and Palestinian Populations. 62
29490346 2018
49
Ciliopathy: Usher Syndrome. 62
30578505 2018
50
Modeling and Preventing Progressive Hearing Loss in Usher Syndrome III. 62
29044151 2017

Variations for Usher Syndrome, Type Iiia

ClinVar genetic disease variations for Usher Syndrome, Type Iiia:

5 (show top 50) (show all 120)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CLRN1 NM_174878.3(CLRN1):c.459_461del (p.Ile153_Leu154delinsMet) DEL Pathogenic
4394 rs1085307049 GRCh37: 3:150645961-150645963
GRCh38: 3:150928174-150928176
2 CLRN1 NM_174878.3(CLRN1):c.449T>C (p.Leu150Pro) SNV Pathogenic
4396 rs121908142 GRCh37: 3:150645973-150645973
GRCh38: 3:150928186-150928186
3 CLRN1 NM_174878.3(CLRN1):c.188_210del (p.Tyr63fs) DEL Pathogenic
4398 rs1553776036 GRCh37: 3:150690286-150690308
GRCh38: 3:150972499-150972521
4 CLRN1 NM_174878.3(CLRN1):c.323T>C (p.Leu108Pro) SNV Pathogenic
633701 rs1559982739 GRCh37: 3:150659479-150659479
GRCh38: 3:150941692-150941692
5 CLRN1 NM_174878.3(CLRN1):c.349_358del (p.Ala117fs) DEL Pathogenic
812272 rs1576631624 GRCh37: 3:150659444-150659453
GRCh38: 3:150941657-150941666
6 CLRN1 NM_174878.3(CLRN1):c.254-2A>G SNV Pathogenic
932234 rs1713861377 GRCh37: 3:150659550-150659550
GRCh38: 3:150941763-150941763
7 CLRN1 NM_174878.3(CLRN1):c.65T>A (p.Leu22His) SNV Pathogenic
812104 rs1576651623 GRCh37: 3:150690431-150690431
GRCh38: 3:150972644-150972644
8 CLRN1 NM_174878.3(CLRN1):c.528T>G (p.Tyr176Ter) SNV Pathogenic
4392 rs121908140 GRCh37: 3:150645894-150645894
GRCh38: 3:150928107-150928107
9 CLRN1 NM_174878.3(CLRN1):c.189C>A (p.Tyr63Ter) SNV Pathogenic
Pathogenic
4397 rs111033267 GRCh37: 3:150690307-150690307
GRCh38: 3:150972520-150972520
10 CLRN1 NM_174878.3(CLRN1):c.619C>T (p.Arg207Ter) SNV Pathogenic
Pathogenic
371628 rs373208120 GRCh37: 3:150645803-150645803
GRCh38: 3:150928016-150928016
11 CLRN1 NM_174878.3(CLRN1):c.359T>A (p.Met120Lys) SNV Pathogenic
4393 rs121908141 GRCh37: 3:150659443-150659443
GRCh38: 3:150941656-150941656
12 CLRN1 NM_174878.3(CLRN1):c.433+1G>A SNV Pathogenic
638640 rs201205811 GRCh37: 3:150659368-150659368
GRCh38: 3:150941581-150941581
13 CLRN1 NM_174878.3(CLRN1):c.502dup (p.Ile168fs) DUP Pathogenic
Likely Pathogenic
188875 rs746523071 GRCh37: 3:150645919-150645920
GRCh38: 3:150928132-150928133
14 CLRN1-AS1, CLRN1 NM_174878.3(CLRN1):c.144T>G (p.Asn48Lys) SNV Pathogenic
Pathogenic
Not Provided
4395 rs111033258 GRCh37: 3:150690352-150690352
GRCh38: 3:150972565-150972565
15 CLRN1 NM_174878.3(CLRN1):c.149_152delinsTGTCCAAT (p.Ser50fs) INDEL Pathogenic/Likely Pathogenic
188726 rs786204428 GRCh37: 3:150690344-150690347
GRCh38: 3:150972557-150972560
16 CLRN1 NM_174878.3(CLRN1):c.437C>A (p.Ser146Tyr) SNV Likely Pathogenic
812271 rs201625237 GRCh37: 3:150645985-150645985
GRCh38: 3:150928198-150928198
17 CLRN1 NM_174878.3(CLRN1):c.368C>A (p.Ala123Asp) SNV Likely Pathogenic
Likely Pathogenic
48146 rs374963432 GRCh37: 3:150659434-150659434
GRCh38: 3:150941647-150941647
18 CLRN1 NM_174878.3(CLRN1):c.128G>T (p.Gly43Val) SNV Likely Pathogenic
802016 rs933370216 GRCh37: 3:150690368-150690368
GRCh38: 3:150972581-150972581
19 CLRN1 NM_174878.3(CLRN1):c.151_154del (p.Gly51fs) DEL Likely Pathogenic
555763 rs1553776061 GRCh37: 3:150690342-150690345
GRCh38: 3:150972555-150972558
20 CLRN1-AS1, CLRN1 NM_174878.3(CLRN1):c.13C>T (p.Gln5Ter) SNV Likely Pathogenic
371376 rs1057517224 GRCh37: 3:150690483-150690483
GRCh38: 3:150972696-150972696
21 CLRN1 NM_174878.3(CLRN1):c.433+2dup DUP Likely Pathogenic
370687 rs1057516687 GRCh37: 3:150659366-150659367
GRCh38: 3:150941579-150941580
22 CLRN1 NM_174878.3(CLRN1):c.541C>T (p.Gln181Ter) SNV Likely Pathogenic
552163 rs376155416 GRCh37: 3:150645881-150645881
GRCh38: 3:150928094-150928094
23 CLRN1-AS1, CLRN1 NM_174878.3(CLRN1):c.3G>A (p.Met1Ile) SNV Likely Pathogenic
552903 rs1553776132 GRCh37: 3:150690493-150690493
GRCh38: 3:150972706-150972706
24 CLRN1-AS1, CLRN1 NM_174878.3(CLRN1):c.2T>C (p.Met1Thr) SNV Likely Pathogenic
555368 rs1553776135 GRCh37: 3:150690494-150690494
GRCh38: 3:150972707-150972707
25 CLRN1 NM_174878.3(CLRN1):c.184C>T (p.Gln62Ter) SNV Likely Pathogenic
556984 rs1553776052 GRCh37: 3:150690312-150690312
GRCh38: 3:150972525-150972525
26 CLRN1 NM_174878.3(CLRN1):c.372del (p.Phe124fs) DEL Likely Pathogenic
557009 rs1553772595 GRCh37: 3:150659430-150659430
GRCh38: 3:150941643-150941643
27 CLRN1 NM_174878.3(CLRN1):c.40G>T (p.Gly14Ter) SNV Likely Pathogenic
558249 rs1553776112 GRCh37: 3:150690456-150690456
GRCh38: 3:150972669-150972669
28 CLRN1 NM_174878.3(CLRN1):c.188A>C (p.Tyr63Ser) SNV Likely Pathogenic
992423 rs1715589813 GRCh37: 3:150690308-150690308
GRCh38: 3:150972521-150972521
29 CLRN1 NM_174878.3(CLRN1):c.301_305del (p.Val101fs) DEL Likely Pathogenic
48145 rs397517932 GRCh37: 3:150659497-150659501
GRCh38: 3:150941710-150941714
30 CLRN1 NM_174878.3(CLRN1):c.697T>C (p.Ter233Arg) SNV Likely Pathogenic
1185681 GRCh37: 3:150645725-150645725
GRCh38: 3:150927938-150927938
31 CLRN1 NM_174878.3(CLRN1):c.118T>G (p.Cys40Gly) SNV Likely Pathogenic
Conflicting Interpretations Of Pathogenicity
4399 rs121908143 GRCh37: 3:150690378-150690378
GRCh38: 3:150972591-150972591
32 CLRN1 NM_174878.3(CLRN1):c.*1038G>A SNV Uncertain Significance
Uncertain Significance
343799 rs201534956 GRCh37: 3:150644685-150644685
GRCh38: 3:150926898-150926898
33 CLRN1 NM_174878.3(CLRN1):c.218A>G (p.Gln73Arg) SNV Uncertain Significance
Uncertain Significance
504559 rs201008540 GRCh37: 3:150690278-150690278
GRCh38: 3:150972491-150972491
34 CLRN1 NM_174878.3(CLRN1):c.183G>A (p.Met61Ile) SNV Uncertain Significance
Uncertain Significance
501869 rs140094683 GRCh37: 3:150690313-150690313
GRCh38: 3:150972526-150972526
35 CLRN1 NM_174878.3(CLRN1):c.66C>A (p.Leu22=) SNV Uncertain Significance
842883 rs375543586 GRCh37: 3:150690430-150690430
GRCh38: 3:150972643-150972643
36 CLRN1 NM_174878.3(CLRN1):c.400C>T (p.Pro134Ser) SNV Uncertain Significance
938719 rs368175674 GRCh37: 3:150659402-150659402
GRCh38: 3:150941615-150941615
37 CLRN1 NM_174878.3(CLRN1):c.437C>T (p.Ser146Phe) SNV Uncertain Significance
850284 rs201625237 GRCh37: 3:150645985-150645985
GRCh38: 3:150928198-150928198
38 CLRN1 NM_174878.3(CLRN1):c.670A>G (p.Thr224Ala) SNV Uncertain Significance
1036925 rs764632225 GRCh37: 3:150645752-150645752
GRCh38: 3:150927965-150927965
39 CLRN1 NM_174878.3(CLRN1):c.456_458del (p.Met152del) DEL Uncertain Significance
555917 rs1553770929 GRCh37: 3:150645964-150645966
GRCh38: 3:150928177-150928179
40 CLRN1 NM_174878.3(CLRN1):c.433+1102G>T SNV Uncertain Significance
556437 rs1553772414 GRCh37: 3:150658267-150658267
GRCh38: 3:150940480-150940480
41 CLRN1 NM_174878.3(CLRN1):c.*249G>A SNV Uncertain Significance
899879 rs528690106 GRCh37: 3:150645474-150645474
GRCh38: 3:150927687-150927687
42 CLRN1 NM_174878.3(CLRN1):c.*93T>C SNV Uncertain Significance
899880 rs567265508 GRCh37: 3:150645630-150645630
GRCh38: 3:150927843-150927843
43 CLRN1 NM_174878.3(CLRN1):c.*9C>G SNV Uncertain Significance
899881 rs201624666 GRCh37: 3:150645714-150645714
GRCh38: 3:150927927-150927927
44 CLRN1 NM_174878.3(CLRN1):c.502A>T (p.Ile168Phe) SNV Uncertain Significance
899882 rs780412161 GRCh37: 3:150645920-150645920
GRCh38: 3:150928133-150928133
45 CLRN1 NM_174878.3(CLRN1):c.*1262G>A SNV Uncertain Significance
900991 rs1477382233 GRCh37: 3:150644461-150644461
GRCh38: 3:150926674-150926674
46 CLRN1 NM_174878.3(CLRN1):c.*1181T>C SNV Uncertain Significance
900993 rs775798558 GRCh37: 3:150644542-150644542
GRCh38: 3:150926755-150926755
47 CLRN1 NM_174878.3(CLRN1):c.*1032T>C SNV Uncertain Significance
900994 rs564545961 GRCh37: 3:150644691-150644691
GRCh38: 3:150926904-150926904
48 CLRN1 NM_174878.3(CLRN1):c.434-3C>A SNV Uncertain Significance
901060 rs1712938572 GRCh37: 3:150645991-150645991
GRCh38: 3:150928204-150928204
49 CLRN1 NM_174878.3(CLRN1):c.411G>A (p.Leu137=) SNV Uncertain Significance
901061 rs1713844994 GRCh37: 3:150659391-150659391
GRCh38: 3:150941604-150941604
50 CLRN1 NM_174878.3(CLRN1):c.185A>G (p.Gln62Arg) SNV Uncertain Significance
901062 rs903439082 GRCh37: 3:150690311-150690311
GRCh38: 3:150972524-150972524

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

73
# 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

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 microvillus GO:0005902 9.88 USH1C MYO7A CLRN1
2 photoreceptor inner segment GO:0001917 9.86 WHRN USH1G USH1C MYO7A
3 stereocilium GO:0032420 9.85 CLRN1 MYO15A MYO7A USH1C WHRN
4 photoreceptor connecting cilium GO:0032391 9.8 WHRN USH1G MYO7A
5 stereocilia ankle link complex GO:0002142 9.67 WHRN USH1C
6 stereocilium bundle GO:0032421 9.35 WHRN MYO15A LHFPL5 CLRN2
7 stereocilium tip GO:0032426 9.32 WHRN USH1C TMC2 TMC1 LHFPL5

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 inner ear morphogenesis GO:0042472 10.06 USH1G USH1C MYO7A MYO15A ATOH1
2 inner ear receptor cell stereocilium organization GO:0060122 9.98 MYO7A USH1C USH1G WHRN
3 photoreceptor cell maintenance GO:0045494 9.97 USH1G USH1C CLRN1
4 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.92 LHFPL5 TMC1 TMC2 WHRN
5 equilibrioception GO:0050957 9.86 USH1G USH1C MYO7A CLRN1
6 auditory receptor cell stereocilium organization GO:0060088 9.85 WHRN MYO7A LHFPL5 CLRN2 CLRN1
7 regulation of calcium ion transmembrane transport GO:1903169 9.83 TMC2 TMC1
8 vestibular reflex GO:0060005 9.78 TMC2 TMC1
9 inner ear auditory receptor cell differentiation GO:0042491 9.77 USH1C MYO7A CLRN2 ATOH1
10 inner ear receptor cell differentiation GO:0060113 9.76 WHRN USH1G MYO7A
11 auditory receptor cell development GO:0060117 9.69 TMC1 CLRN1
12 sensory perception of light stimulus GO:0050953 9.65 CLRN1 MYO7A USH1C USH1G WHRN
13 sensory perception of sound GO:0007605 9.6 WHRN USH1G USH1C TMC1 MYO7A MYO15A

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

# Name GO ID Score Top Affiliating Genes
1 mechanosensitive monoatomic ion channel activity GO:0008381 9.46 TMC2 TMC1
2 voltage-gated calcium channel activity GO:0005245 9.43 TMC2 TMC1 CACNG2
3 spectrin binding GO:0030507 9.1 USH1G USH1C MYO7A

Sources for Usher Syndrome, Type Iiia

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....