USH3A
MCID: USH033
MIFTS: 45

Usher Syndrome, Type 3a (USH3A) malady

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

Aliases & Classifications for Usher Syndrome, Type 3a

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Aliases & Descriptions for Usher Syndrome, Type 3a:

Name: Usher Syndrome, Type 3a 52 12
Usher Syndrome Type 3 11 48 24 54 70 13
Ush3a 11 48 24 70
Ush3 11 48 54 70
Usher Syndrome Type 3a 11 24 13
Usher Syndrome 3a 70 27
 
Usher Syndrome Type Iiia 11
Usher Syndrome, Type Iii 68
Usher Syndrome Type Iii 70
Usher's Syndrome Type 3 70
Usher Syndrome Iii 70

Characteristics:

Orphanet epidemiological data:

54
usher syndrome type 3:
Inheritance: Autosomal recessive; Age of onset: Adolescent,Childhood

HPO:

64
usher syndrome, type 3a:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 276902
Disease Ontology11 DOID:0110828, DOID:0110841
ICD1030 H35.5
Orphanet54 ORPHA231183
UMLS via Orphanet69 C1568248
ICD10 via Orphanet31 H35.5
MedGen37 C1568248
MeSH39 D052245

Summaries for Usher Syndrome, Type 3a

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NIH Rare Diseases:48 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 1f and usher syndrome type 3b, and has symptoms including Array, Array and Array. An important gene associated with Usher Syndrome, Type 3a is CLRN1 (Clarin 1). Affiliated tissues include retina and eye, and related mouse phenotypes are behavior/neurological and nervous system.

Disease Ontology:11 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:52 Usher syndrome type III is characterized by postlingual, progressive hearing loss, variable vestibular dysfunction, and... (276902) more...

UniProtKB/Swiss-Prot:70 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.

Related Diseases for Usher Syndrome, Type 3a

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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 40)
idRelated DiseaseScoreTop Affiliating Genes
1usher syndrome, type 1f30.1ADGRV1, CDH23, MYO7A, PCDH15, USH1C, USH1G
2usher syndrome type 3b11.1
3usher syndrome, type 2a10.9
4usher syndrome, type 2c10.9
5usher syndrome, type 2d10.9
6usher syndrome, type 1d10.9
7usher syndrome, type 1c10.9
8usher syndrome, type 1b10.9
9usher syndrome, type ij10.9
10usher syndrome, type 1g10.9
11pnpla6-related disorders10.2CLRN1, USH2A
12retinitis pigmentosa 3910.1USH1C, USH2A
13fibrochondrogenesis 210.1MYO7A, USH2A
14die smulders droog van dijk syndrome10.1MYO7A, PCDH15
15manitoba oculotrichoanal syndrome10.0CDH23, MYO7A
16sjogren-larsson syndrome10.0CDH23, MYO7A
17autosomal dominant nonsyndromic deafness 6810.0USH1C, USH1G
18adult liposarcoma10.0MYO7A, PCDH15, USH2A
19autosomal dominant nonsyndromic deafness 699.9CDH23, MYO7A
20usher syndrome9.9
21charcot-marie-tooth disease, type 1d9.9CDH23, MYO7A, PCDH15
22robinow syndrome, autosomal dominant 19.9ADGRV1, MYO7A, USH2A
23autosomal recessive nonsyndromic deafness 979.9CDH23, MYO7A
24cardiomyopathy, dilated, 1kk9.8MYO7A, PCDH15, USH1C, USH1G
25obesity susceptibility, adrb3-related9.8CDH23, MYO7A, USH1C, USH2A
26rhizomelic chondrodysplasia punctata type 59.8ADGRV1, CLRN1, MT-TS2, MYO7A
27fanconi anemia, complementation group f9.8CDH23, MYO7A, USH1C, USH1G
28deafness, autosomal recessive 239.7CDH23, MYO7A, PCDH15, USH1C
29narcissistic personality disorder9.7CDH23, MYO7A, PCDH15, USH1C
30x-linked nonsyndromic deafness9.7CDH23, MYO7A, PCDH15, USH2A
31mitochondrial non-syndromic sensorineural deafness9.7CDH23, MYO7A, PCDH15, USH1C
32trichomoniasis9.6CDH23, MYO7A, PCDH15, USH1C, USH2A
33pierre robin syndrome9.6CDH23, MYO7A, PCDH15, USH1C, USH1G
3446xy sex reversal 39.1ADGRV1, CDH23, MYO7A, PCDH15, USH1C, USH1G
35lissencephaly8.9ADGRV1, CDH23, CLRN1, MT-TS2, MYO7A, PCDH15
36peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads8.8ADGRV1, CDH23, CLRN1, MYO7A, PCDH15, SLC4A7
37deafness, autosomal dominant 118.8ADGRV1, CDH23, CLRN1, MYO7A, PCDH15, SLC4A7
38sertoli cell-only syndrome8.8ADGRV1, CDH23, CLRN1, HARS, MT-TS2, MYO7A
39xeroderma pigmentosum group e8.7ADGRV1, CDH23, CLRN1, HARS, MYO7A, PCDH15
40dyskeratosis congenita, autosomal dominant 18.6ADGRV1, 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

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Symptoms by clinical synopsis from OMIM:

276902

Clinical features from OMIM:

276902

Human phenotypes related to Usher Syndrome, Type 3a:

 54 64 (show all 23)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of cochlea64 54 Very frequent (99-80%) HP:0000375
2 sensorineural hearing impairment64 54 Very frequent (99-80%) HP:0000407
3 astigmatism64 54 Frequent (79-30%) HP:0000483
4 abnormal electroretinogram64 54 Very frequent (99-80%) HP:0000512
5 cataract64 54 Frequent (79-30%) HP:0000518
6 visual loss64 54 Very frequent (99-80%) HP:0000572
7 scotoma64 54 Very frequent (99-80%) HP:0000575
8 night blindness54 Very frequent (99-80%)
9 depression64 54 Occasional (29-5%) HP:0000716
10 hallucinations64 54 Occasional (29-5%) HP:0000738
11 anxiety64 54 Occasional (29-5%) HP:0000739
12 ataxia64 54 Frequent (79-30%) HP:0001251
13 vestibular hypofunction64 54 Very frequent (99-80%) HP:0001756
14 iris hypopigmentation64 54 Very frequent (99-80%) HP:0007730
15 high-grade hypermetropia64 54 Frequent (79-30%) HP:0008499
16 hemianopsia54 Very frequent (99-80%)
17 schizophrenia64 54 Occasional (29-5%) HP:0100753
18 rod-cone dystrophy64 HP:0000510
19 nyctalopia64 HP:0000662
20 visual field defect64 HP:0001123
21 vestibular dysfunction64 HP:0001751
22 reduced visual acuity64 HP:0007663
23 hemianopia64 HP:0012377

MGI Mouse Phenotypes related to Usher Syndrome, Type 3a according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053867.8ADGRV1, CDH23, CLRN1, MYO7A, PCDH15, USH1C
2MP:00036316.8ADGRV1, CDH23, CLRN1, MYO7A, PCDH15, SLC4A7
3MP:00053776.6ADGRV1, CDH23, CLRN1, HARS, MYO7A, PCDH15
4MP:00053916.1ADGRV1, CDH23, CLRN1, MYO7A, PCDH15, SLC4A7

Drugs & Therapeutics for Usher Syndrome, Type 3a

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Study of UshStat in Patients With Retinitis Pigmentosa Associated With Usher Syndrome Type 1BRecruitingNCT01505062Phase 1, Phase 2
2Retinal Imaging of Subjects Implanted With Ciliary Neurotrophic Factor (CNTF)-Releasing Encapsulated Cell Implant for Early-stage Retinitis PigmentosaActive, not recruitingNCT01530659Phase 2
3Natural History and Genetic Studies of Usher SyndromeActive, not recruitingNCT00106743

Search NIH Clinical Center for Usher Syndrome, Type 3a

Genetic Tests for Usher Syndrome, Type 3a

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Genetic tests related to Usher Syndrome, Type 3a:

id Genetic test Affiliating Genes
1 Usher Syndrome, Type 3a27
2 Usher Syndrome Type 324 HARS
3 Usher Syndrome Type 3a24 CLRN1

Anatomical Context for Usher Syndrome, Type 3a

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MalaCards organs/tissues related to Usher Syndrome, Type 3a:

36
Retina, Eye

Publications for Usher Syndrome, Type 3a

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Articles related to Usher Syndrome, Type 3a:

idTitleAuthorsYear
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

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UniProtKB/Swiss-Prot genetic disease variations for Usher Syndrome, Type 3a:

70
id Symbol AA change Variation ID SNP ID
1CLRN1p.Met120LysVAR_012241rs121908141
2CLRN1p.Asn48LysVAR_030345rs111033258
3CLRN1p.Leu150ProVAR_030346rs121908142
4CLRN1p.Cys40GlyVAR_054555rs121908143
5CLRN1p.Ser105ProVAR_054556
6CLRN1p.Ile168AsnVAR_071434

Clinvar genetic disease variations for Usher Syndrome, Type 3a:

5 (show all 14)
id Gene Variation Type Significance SNP ID Assembly Location
1CLRN1NM_ 174878.2(CLRN1): c.149_ 152delCAGGinsTGTCCAAT (p.Ser50Leufs)indelPathogenic/ Likely pathogenicrs786204428GRCh37Chr 3, 150690344: 150690347
2CLRN1NM_ 174878.2(CLRN1): c.502dupA (p.Ile168Asnfs)duplicationLikely pathogenicrs746523071GRCh37Chr 3, 150645920: 150645920
3CLRN1NM_ 174878.2(CLRN1): c.433+2dupTduplicationLikely pathogenicrs1057516687GRCh37Chr 3, 150659367: 150659367
4CLRN1NM_ 174878.2(CLRN1): c.13C> T (p.Gln5Ter)SNVLikely pathogenicrs1057517224GRCh38Chr 3, 150972696: 150972696
5CLRN1NM_ 174878.2(CLRN1): c.619C> T (p.Arg207Ter)SNVPathogenicrs373208120GRCh38Chr 3, 150928016: 150928016
6CLRN1NM_ 001195794.1(CLRN1): c.567T> G (p.Tyr189Ter)SNVPathogenicrs121908140GRCh37Chr 3, 150645894: 150645894
7CLRN1NM_ 001195794.1(CLRN1): c.359T> A (p.Met120Lys)SNVPathogenicrs121908141GRCh37Chr 3, 150659443: 150659443
8CLRN1CLRN1, 3-BP DEL, 459ATTdeletionPathogenic
9CLRN1NM_ 001195794.1(CLRN1): c.488T> C (p.Leu163Pro)SNVPathogenicrs121908142GRCh37Chr 3, 150645973: 150645973
10CLRN1NM_ 001195794.1(CLRN1): c.189C> A (p.Tyr63Ter)SNVPathogenicrs111033267GRCh37Chr 3, 150690307: 150690307
11CLRN1CLRN1, 23-BP DEL, NT187deletionPathogenic
12CLRN1NM_ 001195794.1(CLRN1): c.127G> A (p.Gly43Arg)SNVLikely pathogenicrs111033434GRCh37Chr 3, 150690369: 150690369
13CLRN1NM_ 001195794.1(CLRN1): c.301_ 305delGTCAT (p.Val101Serfs)deletionPathogenic/ Likely pathogenicrs397517932GRCh37Chr 3, 150659497: 150659501
14CLRN1NM_ 174878.2(CLRN1): c.368C> A (p.Ala123Asp)SNVPathogenic/ Likely pathogenicrs374963432GRCh37Chr 3, 150659434: 150659434

Expression for genes affiliated with Usher Syndrome, Type 3a

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Search GEO for disease gene expression data for Usher Syndrome, Type 3a.

Pathways for genes affiliated with Usher Syndrome, Type 3a

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GO Terms for genes affiliated with Usher Syndrome, Type 3a

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Cellular components related to Usher Syndrome, Type 3a according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1stereocilium bundleGO:003242110.3PCDH15, USH2A
2microvillusGO:000590210.2CLRN1, MYO7A, USH1C
3photoreceptor connecting ciliumGO:003239110.1MYO7A, USH1G, USH2A
4apical plasma membraneGO:001632410.0MYO7A, SLC4A7, USH2A
5photoreceptor outer segmentGO:000175010.0MYO7A, PCDH15, USH1C
6photoreceptor inner segmentGO:00019179.7MYO7A, USH1C, USH1G, USH2A
7synapseGO:00452027.8ADGRV1, MYO7A, PCDH15, SLC4A7, USH1C
8stereociliumGO:00324207.6ADGRV1, CDH23, CLRN1, MYO7A, PCDH15, SLC4A7
9plasma membraneGO:00058867.1ADGRV1, CDH23, CLRN1, PCDH15, SLC4A7, USH1C

Biological processes related to Usher Syndrome, Type 3a according to GeneCards Suite gene sharing:

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1auditory receptor cell developmentGO:006011710.4CLRN1, SLC4A7
2inner ear developmentGO:004883910.3MYO7A, PCDH15
3actin filament bundle assemblyGO:005101710.3PCDH15, USH1C
4maintenance of animal organ identityGO:004849610.0ADGRV1, USH2A
5auditory receptor cell stereocilium organizationGO:006008810.0CLRN1, MYO7A, PCDH15
6inner ear receptor cell differentiationGO:006011310.0MYO7A, USH1G, USH2A
7inner ear morphogenesisGO:00424729.9MYO7A, USH1C, USH1G
8auditory receptor cell differentiationGO:00424919.9MYO7A, PCDH15, USH1C
9response to stimulusGO:00508969.0ADGRV1, CDH23, CLRN1, USH2A
10inner ear receptor stereocilium organizationGO:00601228.8CDH23, MYO7A, PCDH15, USH1C, USH1G
11equilibrioceptionGO:00509578.5CDH23, CLRN1, MYO7A, PCDH15, USH1C, USH1G
12photoreceptor cell maintenanceGO:00454947.7ADGRV1, CDH23, CLRN1, PCDH15, USH1C, USH1G
13visual perceptionGO:00076017.5ADGRV1, CDH23, CLRN1, MYO7A, PCDH15, USH2A
14sensory perception of light stimulusGO:00509537.3ADGRV1, CDH23, CLRN1, MYO7A, PCDH15, USH1C
15sensory perception of soundGO:00076057.2ADGRV1, CDH23, CLRN1, MYO7A, PCDH15, USH1C

Molecular functions related to Usher Syndrome, Type 3a according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1spectrin bindingGO:00305079.2MYO7A, USH1C, USH1G

Sources for Usher Syndrome, Type 3a

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet