USH3A
MCID: USH038
MIFTS: 50

Usher Syndrome, Type Iiia (USH3A)

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

Aliases & Classifications for Usher Syndrome, Type Iiia

MalaCards integrated aliases for Usher Syndrome, Type Iiia:

Name: Usher Syndrome, Type Iiia 56
Usher Syndrome, Type 3a 56 29 13 6 39
Ush3 56 12 52 58 73
Usher Syndrome Type 3 12 58 73 15
Ush3a 56 12 52 73
Usher Syndrome, Type Iii 56 39 71
Usher Syndrome Type 3a 12 52 15
Usher Syndrome, Type Iii; Ush3 56
Usher Syndrome Type Iiia 12
Usher's Syndrome Type 3 73
Usher Syndrome Type Iii 73
Usher Syndrome, Type 3 74
Usher Syndrome Iii 73
Usher Syndrome 3a 73

Characteristics:

Orphanet epidemiological data:

58
usher syndrome type 3
Inheritance: Autosomal recessive; Age of onset: Adolescent,Childhood;

OMIM:

56
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:

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


External Ids:

Disease Ontology 12 DOID:0110828 DOID:0110841
OMIM 56 276902
OMIM Phenotypic Series 56 PS276900
MeSH 43 D052245
NCIt 49 C126329
ICD10 32 H35.5
ICD10 via Orphanet 33 H35.5
UMLS via Orphanet 72 C1568248
Orphanet 58 ORPHA231183
MedGen 41 C1568248
UMLS 71 C1568248

Summaries for Usher Syndrome, Type Iiia

NIH Rare Diseases : 52 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 iiib and usher syndrome, type ih. An important gene associated with Usher Syndrome, Type Iiia is CLRN1 (Clarin 1), and among its related pathways/superpathways are Phototransduction and Metabolism of fat-soluble vitamins. Affiliated tissues include retina and eye, and related phenotypes are nyctalopia and abnormal electroretinogram

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 : 56 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 : 73 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 : 74 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
Usher Syndrome, Type 2b

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

(show top 50) (show all 99)
# Related Disease Score Top Affiliating Genes
1 usher syndrome, type iiib 32.6 WHRN USH1G MYO7A HARS1 CLRN1
2 usher syndrome, type ih 32.5 WHRN USH1G USH1C PCDH15 MYO7A CLRN1
3 usher syndrome, type ik 32.4 PCDH15 CLRN1 CIB2 CDH23
4 usher syndrome, type ig 32.4 USH1G USH1C PCDH15 CDH23
5 usher syndrome, type ic 32.4 WHRN USH1G USH1C PCDH15 MYO7A CLRN1
6 usher syndrome, type iia 32.2 WHRN USH2A USH1C PDZD7 CDH23 ADGRV1
7 usher syndrome, type ij 31.8 WHRN USH2A USH1G USH1C PDZD7 PCDH15
8 usher syndrome, type id 31.8 WHRN USH2A USH1G USH1C PDZD7 PCDH15
9 usher syndrome, type iid 31.6 WHRN USH2A USH1G USH1C PDZD7 PCDH15
10 usher syndrome, type if 31.6 WHRN USH2A USH1G USH1C PDZD7 PCDH15
11 usher syndrome, type iic 31.4 WHRN USH2A USH1G USH1C PDZD7 PDE6A
12 retinitis pigmentosa-deafness syndrome 31.3 WHRN USH2A PCDH15 MYO7A MT-TS2 CDH23
13 branchiootic syndrome 1 31.0 WHRN USH2A USH1G MYO7A CDH23
14 deafness, autosomal recessive 48 31.0 WHRN MYO7A CIB2
15 fundus albipunctatus 30.7 USH2A TULP1 RDH12
16 inherited retinal disorder 30.7 USH2A RDH12 MYO7A CNGA1 CDH23
17 usher syndrome, type i 30.4 WHRN USH2A USH1G USH1C PDZD7 PCDH15
18 yemenite deaf-blind hypopigmentation syndrome 30.4 USH2A MYO7A
19 retinal degeneration 30.3 USH2A USH1C TULP1 RDH12 MYO7A CNGB1
20 sensorineural hearing loss 29.8 WHRN USH2A USH1G USH1C PDZD7 PCDH15
21 usher syndrome 29.5 WHRN USH2A USH1G USH1C TULP1 RDH12
22 usher syndrome type 2 29.4 WHRN USH2A USH1G USH1C TULP1 PDZD7
23 retinal disease 29.2 USH2A USH1G USH1C TULP1 RDH12 PDZD7
24 fundus dystrophy 29.1 WHRN USH2A USH1G USH1C TULP1 RDH12
25 retinitis pigmentosa 28.8 WHRN USH2A USH1G USH1C TULP1 RDH12
26 nonsyndromic retinitis pigmentosa 10.6 USH2A CLRN1
27 dfnb1 10.6 PCDH15 MYO7A
28 drug-induced hearing loss 10.6 MYO7A CDH23
29 deafness, autosomal dominant 48 10.6 MYO7A CIB2
30 deafness, autosomal recessive 83 10.6 MYO7A CDH23
31 autosomal recessive nonsyndromic deafness 36 10.6 WHRN USH1C PCDH15
32 deafness, autosomal recessive 30 10.6 WHRN PCDH15 MYO7A
33 acute hemorrhagic leukoencephalitis 10.6 USH1G CDH23
34 autosomal recessive nonsyndromic deafness 3 10.6 WHRN MYO7A CDH23
35 deafness, autosomal dominant 56 10.6 WHRN USH2A
36 deafness, autosomal recessive 16 10.6 USH1C PCDH15 CDH23
37 deafness, autosomal dominant 17 10.6 PCDH15 MYO7A
38 vestibular disease 10.5 PCDH15 MYO7A CDH23
39 baraitser-winter syndrome 10.5 WHRN CIB2 CDH23
40 retinitis pigmentosa 45 10.5 CNGB1 CNGA1
41 leber congenital amaurosis 13 10.5 TULP1 RDH12
42 leber congenital amaurosis 15 10.5 TULP1 RDH12
43 deafness, autosomal dominant 36 10.5 PCDH15 CDH23
44 leber congenital amaurosis 7 10.5 TULP1 RDH12
45 deafness, autosomal dominant 20 10.5 USH1G CDH23
46 leber congenital amaurosis 8 10.5 TULP1 RDH12
47 retinitis pigmentosa 35 10.5 RDH12 CNGB1
48 hereditary retinal dystrophy 10.5 USH2A RDH12 CNGA1
49 perrault syndrome 10.5 PCDH15 HARS1 CLRN1 CDH23
50 retinitis pigmentosa 29 10.5 PDE6A CNGB1 CNGA1

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 31 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nyctalopia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000662
2 abnormal electroretinogram 58 31 hallmark (90%) Very frequent (99-80%) HP:0000512
3 sensorineural hearing impairment 58 31 frequent (33%) Very frequent (99-80%) HP:0000407
4 hemianopia 58 31 hallmark (90%) Very frequent (99-80%) HP:0012377
5 visual loss 58 31 hallmark (90%) Very frequent (99-80%) HP:0000572
6 abnormal cochlea morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0000375
7 iris hypopigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007730
8 scotoma 58 31 hallmark (90%) Very frequent (99-80%) HP:0000575
9 vestibular hypofunction 58 31 hallmark (90%) Very frequent (99-80%) HP:0001756
10 ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0001251
11 cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000518
12 high hypermetropia 58 31 frequent (33%) Frequent (79-30%) HP:0008499
13 astigmatism 58 31 frequent (33%) Frequent (79-30%) HP:0000483
14 visual field defect 31 frequent (33%) HP:0001123
15 vestibular dysfunction 31 frequent (33%) HP:0001751
16 depressivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0000716
17 hallucinations 58 31 occasional (7.5%) Occasional (29-5%) HP:0000738
18 anxiety 58 31 occasional (7.5%) Occasional (29-5%) HP:0000739
19 schizophrenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0100753
20 rod-cone dystrophy 31 HP:0000510
21 reduced visual acuity 31 HP:0007663

Symptoms via clinical synopsis from OMIM:

56
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

MGI Mouse Phenotypes related to Usher Syndrome, Type Iiia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10 ADGRV1 ARSG CDH23 CIB2 CLRN1 MYO7A
2 hearing/vestibular/ear MP:0005377 9.97 ADGRV1 CDH23 CIB2 CLRN1 HARS1 MYO7A
3 nervous system MP:0003631 9.83 ADGRV1 ARSG CDH23 CIB2 CLRN1 MYO7A
4 vision/eye MP:0005391 9.5 ADGRV1 ARSG CDH23 CIB2 CLRN1 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 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:

40
Retina, Eye

Publications for Usher Syndrome, Type Iiia

Articles related to Usher Syndrome, Type Iiia:

(show all 19)
# Title Authors PMID Year
1
Mutation screening of USH3 gene (clarin-1) in Spanish patients with Usher syndrome: low prevalence and phenotypic variability. 56 6
15521980 2004
2
Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III. 56 6
14569126 2003
3
Usher syndrome type III: revised genomic structure of the USH3 gene and identification of novel mutations. 56 6
12145752 2002
4
USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses. 56 6
12080385 2002
5
Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3. 56 6
11524702 2001
6
Clinical utility gene card for: Usher syndrome. 6
21697857 2011
7
Phenotypes in defined genotypes including siblings with Usher syndrome. 56
21174530 2011
8
Usher syndrome IIIA gene clarin-1 is essential for hair cell function and associated neural activation. 56
19414487 2009
9
Possible interaction between USH1B and USH3 gene products as implied by apparent digenic deafness inheritance. 56
10364543 1999
10
Usher syndrome type III (USH3) linked to chromosome 3q in an Italian family. 56
9719374 1998
11
Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins. 56
9382091 1997
12
Refined mapping of the Usher syndrome type III locus on chromosome 3, exclusion of candidate genes, and identification of the putative mouse homologous region. 56
8975700 1996
13
The ophthalmological course of Usher syndrome type III. 56
8864816 1995
14
Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q. 56
7711740 1995
15
Clinical variability and genetic heterogeneity within the Acadian Usher population. 56
1415347 1992
16
Histopathology of the inner ear in Usher's syndrome as observed by light and electron microscopy. 56
3717858 1986
17
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. 61
30581889 2019
18
Clarin-1 gene transfer rescues auditory synaptopathy in model of Usher syndrome. 61
29985171 2018
19
The cone-dominant retina and the inner ear of zebrafish express the ortholog of CLRN1, the causative gene of human Usher syndrome type 3A. 61
24045267 2013

Variations for Usher Syndrome, Type Iiia

ClinVar genetic disease variations for Usher Syndrome, Type Iiia:

6 (show all 43) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CLRN1 NM_052995.2(CLRN1):c.300T>G (p.Tyr100Ter)SNV Pathogenic 4392 rs121908140 3:150645894-150645894 3:150928107-150928107
2 CLRN1 NM_052995.2(CLRN1):c.131T>A (p.Met44Lys)SNV Pathogenic 4393 rs121908141 3:150659443-150659443 3:150941656-150941656
3 CLRN1 NM_052995.2(CLRN1):c.231_233del (p.Ile77_Leu78delinsMet)deletion Pathogenic 4394 rs1085307049 3:150645961-150645963 3:150928174-150928176
4 CLRN1 NM_052995.2(CLRN1):c.221T>C (p.Leu74Pro)SNV Pathogenic 4396 rs121908142 3:150645973-150645973 3:150928186-150928186
5 CLRN1 NM_001195794.1(CLRN1):c.189C>A (p.Tyr63Ter)SNV Pathogenic 4397 rs111033267 3:150690307-150690307 3:150972520-150972520
6 CLRN1 NM_001195794.1(CLRN1):c.188_210del (p.Tyr63fs)deletion Pathogenic 4398 rs1553776036 3:150690286-150690308 3:150972499-150972521
7 CLRN1 NM_001195794.1(CLRN1):c.658C>T (p.Arg220Ter)SNV Pathogenic 371628 rs373208120 3:150645803-150645803 3:150928016-150928016
8 CLRN1 NM_052995.2(CLRN1):c.95T>C (p.Leu32Pro)SNV Pathogenic 633701 rs1559982739 3:150659479-150659479 3:150941692-150941692
9 CLRN1 NM_052995.2(CLRN1):c.205+1G>ASNV Pathogenic 638640 3:150659368-150659368 3:150941581-150941581
10 CLRN1 NM_001195794.1(CLRN1):c.149_152delinsTGTCCAAT (p.Ser50fs)indel Pathogenic/Likely pathogenic 188726 rs786204428 3:150690344-150690347 3:150972557-150972560
11 CLRN1 NM_052995.2(CLRN1):c.73_77del (p.Val25fs)deletion Pathogenic/Likely pathogenic 48145 rs397517932 3:150659497-150659501 3:150941710-150941714
12 CLRN1 NM_052995.2(CLRN1):c.140C>A (p.Ala47Asp)SNV Pathogenic/Likely pathogenic 48146 rs374963432 3:150659434-150659434 3:150941647-150941647
13 CLRN1 NM_052995.2(CLRN1):c.205+2dupduplication Likely pathogenic 370687 rs1057516687 3:150659366-150659367 3:150941579-150941580
14 CLRN1 NM_001195794.1(CLRN1):c.13C>T (p.Gln5Ter)SNV Likely pathogenic 371376 rs1057517224 3:150690483-150690483 3:150972696-150972696
15 CLRN1 NM_052995.2(CLRN1):c.313C>T (p.Gln105Ter)SNV Likely pathogenic 552163 rs376155416 3:150645881-150645881 3:150928094-150928094
16 CLRN1 NM_001195794.1(CLRN1):c.151_154del (p.Gly51fs)deletion Likely pathogenic 555763 rs1553776061 3:150690342-150690345 3:150972555-150972558
17 CLRN1 NM_001195794.1(CLRN1):c.40G>T (p.Gly14Ter)SNV Likely pathogenic 558249 rs1553776112 3:150690456-150690456 3:150972669-150972669
18 CLRN1 NM_001195794.1(CLRN1):c.184C>T (p.Gln62Ter)SNV Likely pathogenic 556984 rs1553776052 3:150690312-150690312 3:150972525-150972525
19 CLRN1 NM_001195794.1(CLRN1):c.2T>C (p.Met1Thr)SNV Likely pathogenic 555368 rs1553776135 3:150690494-150690494 3:150972707-150972707
20 CLRN1 NM_052995.2(CLRN1):c.274dup (p.Ile92fs)duplication Likely pathogenic 188875 rs746523071 3:150645919-150645920 3:150928132-150928133
21 CLRN1 NM_052995.2(CLRN1):c.144del (p.Phe48fs)deletion Likely pathogenic 557009 rs1553772595 3:150659430-150659430 3:150941643-150941643
22 CLRN1 NM_001195794.1(CLRN1):c.128G>T (p.Gly43Val)SNV Likely pathogenic 802016 3:150690368-150690368 3:150972581-150972581
23 CLRN1 NM_001195794.1(CLRN1):c.3G>A (p.Met1Ile)SNV Likely pathogenic 552903 rs1553776132 3:150690493-150690493 3:150972706-150972706
24 CLRN1 NM_001195794.1(CLRN1):c.118T>G (p.Cys40Gly)SNV Conflicting interpretations of pathogenicity 4399 rs121908143 3:150690378-150690378 3:150972591-150972591
25 CLRN1 NM_001195794.1(CLRN1):c.144T>G (p.Asn48Lys)SNV Conflicting interpretations of pathogenicity 4395 rs111033258 3:150690352-150690352 3:150972565-150972565
26 CLRN1 NM_001195794.1(CLRN1):c.218A>G (p.Gln73Arg)SNV Uncertain significance 504559 rs201008540 3:150690278-150690278 3:150972491-150972491
27 CLRN1 NM_052995.2(CLRN1):c.205+1061A>TSNV Uncertain significance 228521 rs567709615 3:150658308-150658308 3:150940521-150940521
28 CLRN1 NM_052995.2(CLRN1):c.3G>A (p.Met1Ile)SNV Uncertain significance 555400 rs780023517 3:150661629-150661629 3:150943842-150943842
29 CLRN1 NM_052995.2(CLRN1):c.-103dupduplication Uncertain significance 554981 rs1553772899 3:150661733-150661734 3:150943946-150943947
30 CLRN1 NM_001195794.1(CLRN1):c.454_460ACCAGGC[3] (p.Gln157fs)short repeat Uncertain significance 552795 rs768093614 3:150658272-150658273 3:150940485-150940486
31 CLRN1 NM_052995.2(CLRN1):c.228_230del (p.Met76del)deletion Uncertain significance 555917 rs1553770929 3:150645964-150645966 3:150928177-150928179
32 CLRN1 NM_052995.2(CLRN1):c.205+1102G>TSNV Uncertain significance 556437 rs1553772414 3:150658267-150658267 3:150940480-150940480
33 CLRN1 NM_052995.2(CLRN1):c.179G>A (p.Gly60Glu)SNV Uncertain significance 556027 rs779258184 3:150659395-150659395 3:150941608-150941608
34 CLRN1 NM_052995.2(CLRN1):c.63C>T (p.Ile21=)SNV Uncertain significance 556088 rs1231233910 3:150659511-150659511 3:150941724-150941724
35 CLRN1 NM_052995.2(CLRN1):c.-32deldeletion Uncertain significance 554097 rs1032160668 3:150661663-150661663 3:150943876-150943876
36 CLRN1 NM_001195794.1(CLRN1):c.209G>A (p.Gly70Asp)SNV Uncertain significance 599094 rs1559996059 3:150690287-150690287 3:150972500-150972500
37 CLRN1 NM_052995.2(CLRN1):c.-16_-3deldeletion Uncertain significance 550785 rs1553772861 3:150661634-150661647 3:150943847-150943860
38 CLRN1 NM_052995.2(CLRN1):c.25+2T>CSNV Likely benign 553531 rs778574679 3:150661605-150661605 3:150943818-150943818
39 CLRN1 NM_052995.2(CLRN1):c.-49C>TSNV Likely benign 552508 rs758741442 3:150661680-150661680 3:150943893-150943893
40 CLRN1 NM_052995.2(CLRN1):c.108C>G (p.Thr36=)SNV Likely benign 552809 rs565400473 3:150659466-150659466 3:150941679-150941679
41 CLRN1 NM_052995.2(CLRN1):c.-28deldeletion Likely benign 553157 rs1211060908 3:150661659-150661659 3:150943872-150943872
42 CLRN1 NM_052995.2(CLRN1):c.2T>G (p.Met1Arg)SNV Likely benign 555657 rs963890618 3:150661630-150661630 3:150943843-150943843
43 CLRN1 NM_001195794.1(CLRN1):c.6A>C (p.Pro2=)SNV Benign/Likely benign 48148 rs111033422 3:150690490-150690490 3:150972703-150972703

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:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.34 WHRN USH2A USH1G USH1C TULP1 PDZD7
2 cell projection GO:0042995 10.08 WHRN USH2A USH1C TULP1 PDZD7 CIB2
3 synapse GO:0045202 10.02 WHRN USH1C TULP1 PCDH15 MYO7A ADGRV1
4 cilium GO:0005929 9.93 WHRN TULP1 PDZD7 CIB2 CEP78
5 photoreceptor outer segment GO:0001750 9.87 USH1C TULP1 PCDH15 MYO7A CNGB1 CNGA1
6 photoreceptor connecting cilium GO:0032391 9.85 WHRN USH2A USH1G USH1C PDZD7 MYO7A
7 ciliary basal body GO:0036064 9.81 WHRN USH2A USH1G CEP78
8 microvillus GO:0005902 9.73 USH1C MYO7A CLRN1
9 USH2 complex GO:1990696 9.71 WHRN USH2A PDZD7 ADGRV1
10 stereocilia ankle link complex GO:0002142 9.65 WHRN USH2A USH1C PDZD7 ADGRV1
11 stereocilium tip GO:0032426 9.63 WHRN USH1C PDZD7
12 periciliary membrane compartment GO:1990075 9.61 WHRN USH2A ADGRV1
13 stereocilium GO:0032420 9.61 WHRN USH1C PDZD7 PCDH15 MYO7A CLRN1
14 stereocilium bundle GO:0032421 9.57 WHRN USH2A
15 stereocilia ankle link GO:0002141 9.55 WHRN USH2A USH1C PDZD7 ADGRV1
16 stereocilium membrane GO:0060171 9.52 USH2A ADGRV1
17 photoreceptor inner segment GO:0001917 9.32 WHRN USH2A USH1G USH1C TULP1 RDH12

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 10.09 USH2A TULP1 RDH12 PDE6A CNGB1 CNGA1
2 sensory perception of light stimulus GO:0050953 9.91 WHRN USH2A USH1G USH1C PCDH15 MYO7A
3 inner ear receptor cell stereocilium organization GO:0060122 9.87 WHRN USH1G USH1C PCDH15 MYO7A CDH23
4 equilibrioception GO:0050957 9.85 USH1G USH1C PCDH15 MYO7A CLRN1 CDH23
5 sensory perception of sound GO:0007605 9.85 WHRN USH2A USH1G USH1C PDZD7 PCDH15
6 establishment of protein localization GO:0045184 9.81 WHRN USH2A PDZD7 ADGRV1
7 auditory receptor cell stereocilium organization GO:0060088 9.8 WHRN PDZD7 PCDH15 MYO7A CLRN1
8 inner ear morphogenesis GO:0042472 9.77 USH1G USH1C MYO7A
9 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.76 WHRN PDZD7 PCDH15 ADGRV1
10 inner ear development GO:0048839 9.75 PCDH15 MYO7A ADGRV1
11 retina homeostasis GO:0001895 9.73 WHRN TULP1 CNGB1
12 regulation of cytosolic calcium ion concentration GO:0051480 9.72 PDE6A CNGB1 CDH23
13 regulation of rhodopsin mediated signaling pathway GO:0022400 9.71 PDE6A CNGB1 CNGA1
14 rhodopsin mediated signaling pathway GO:0016056 9.7 PDE6A CNGB1 CNGA1
15 photoreceptor cell maintenance GO:0045494 9.7 USH2A USH1G USH1C TULP1 RDH12 PCDH15
16 inner ear receptor cell differentiation GO:0060113 9.67 USH2A USH1G MYO7A
17 inner ear auditory receptor cell differentiation GO:0042491 9.65 USH1C PCDH15 MYO7A
18 detection of light stimulus involved in visual perception GO:0050908 9.61 TULP1 CNGB1
19 eye photoreceptor cell development GO:0042462 9.6 TULP1 MYO7A
20 auditory receptor cell development GO:0060117 9.58 PDZD7 CLRN1
21 maintenance of animal organ identity GO:0048496 9.57 USH2A ADGRV1
22 visual perception GO:0007601 9.36 USH2A TULP1 RDH12 PDE6A PCDH15 MYO7A

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

# Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 9.5 WHRN USH2A USH1G PDZD7 MYO7A CIB2
2 cGMP binding GO:0030553 9.37 CNGB1 CNGA1
3 intracellular cAMP-activated cation channel activity GO:0005222 9.32 CNGB1 CNGA1
4 intracellular cGMP-activated cation channel activity GO:0005223 9.26 CNGB1 CNGA1
5 intracellular cyclic nucleotide activated cation channel activity GO:0005221 9.16 CNGB1 CNGA1
6 spectrin binding GO:0030507 8.8 USH1G USH1C MYO7A

Sources for Usher Syndrome, Type Iiia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....