MCID: USH033
MIFTS: 48

Usher Syndrome, Type 3a malady

Genetic diseases, Rare diseases, Eye diseases, Ear diseases, Fetal diseases categories

Summaries for Usher Syndrome, Type 3a

About this section


OMIM:47 Usher syndrome type III is characterized by postlingual, progressive hearing loss, variable vestibular dysfunction, and... (276902) more...

MalaCards based summary: Usher Syndrome, Type 3a, also known as usher syndrome type 3, is related to usher syndrome and usher syndrome, type 1d, and has symptoms including sensorineural hearing impairment, visual impairment and abnormal electroretinogram. An important gene associated with Usher Syndrome, Type 3a is CLRN1 (clarin 1), and among its related pathways is tRNA Aminoacylation. Affiliated tissues include eye and retina, and related mouse phenotypes are adipose tissue and reproductive system.

NIH Rare Diseases:43 Usher syndrome is a genetic condition characterized by hearing loss or deafness, and progressive vision loss due to retinitis pigmentosa. 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, which means both copies of the disease-causing gene in each cell have mutations. last updated: 3/3/2014

Aliases & Classifications for Usher Syndrome, Type 3a

About this section
Sources:
47OMIM, 11diseasecard, 22GeneTests, 43NIH Rare Diseases, 49Orphanet, 24GTR, 28ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Usher Syndrome, Type 3a, Aliases & Descriptions:

Name: Usher Syndrome, Type 3a 47 11
Usher Syndrome Type 3 43 22 49 24
Usher Syndrome, Type Iiia 47 22
 
Ush3 43 49
Ush3a 43


Classifications:



Characteristics (Orphanet epidemiological data):

49
usher syndrome type 3:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal


External Ids:

OMIM47 276902
Orphanet49 231183
ICD10 via Orphanet28 H35.5
UMLS via Orphanet63 C1568248

Related Diseases for Usher Syndrome, Type 3a

About this section

Graphical network of diseases related to Usher Syndrome, Type 3a:



Diseases related to usher syndrome, type 3a

Symptoms for Usher Syndrome, Type 3a

About this section

Symptoms by clinical synopsis from OMIM:

276902

Clinical features from OMIM:

276902

Symptoms:

 49 (show all 15)
  • retinitis pigmentosa/retinal pigmentary changes
  • visual loss/blindness/amblyopia
  • night blindness/hemeralopia
  • abnormal erg/electroretinogram/electroretinography
  • abnormal visual field/hemianopsia/hemianopia/scotoma/visual peripheral rim
  • structural anomalies of inner ear/cochlea/vestible/semicircular canals
  • sensorineural deafness/hearing loss
  • autosomal recessive inheritance
  • cataract/lens opacification
  • hypermetropia
  • astigmatism
  • ataxia/incoordination/trouble of the equilibrium
  • delirium/hallucination
  • humour troubles/anxiety/depression/apathy/euphoria/irritability
  • psychosis/schizophrenia/maniac disorder

HPO human phenotypes related to Usher Syndrome, Type 3a:

(show all 18)
id Description Frequency HPO Source Accession
1 sensorineural hearing impairment hallmark (90%) HP:0000407
2 visual impairment hallmark (90%) HP:0000505
3 abnormal electroretinogram hallmark (90%) HP:0000512
4 night blindness hallmark (90%) HP:0000662
5 visual field defect hallmark (90%) HP:0001123
6 abnormal retinal pigmentation hallmark (90%) HP:0007703
7 astigmatism typical (50%) HP:0000483
8 cataract typical (50%) HP:0000518
9 hypermetropia typical (50%) HP:0000540
10 incoordination typical (50%) HP:0002311
11 hallucinations occasional (7.5%) HP:0000738
12 autosomal recessive inheritance HP:0000007
13 sensorineural hearing impairment HP:0000407
14 retinitis pigmentosa HP:0000510
15 night blindness HP:0000662
16 visual field defect HP:0001123
17 vestibular dysfunction HP:0001751
18 decreased central vision HP:0007663

Drugs & Therapeutics for Usher Syndrome, Type 3a

About this section

Drug clinical trials:

Search ClinicalTrials for Usher Syndrome, Type 3a

Search NIH Clinical Center for Usher Syndrome, Type 3a

Genetic Tests for Usher Syndrome, Type 3a

About this section

Genetic tests related to Usher Syndrome, Type 3a:

id Genetic test Affiliating Genes
1 Usher Syndrome Type 322 HARS
2 Usher Syndrome Type 3a22 CLRN1
3 Usher Syndrome, Type 324

Anatomical Context for Usher Syndrome, Type 3a

About this section

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

33
Eye, Retina

Animal Models for Usher Syndrome, Type 3a or affiliated genes

About this section

MGI Mouse Phenotypes related to Usher Syndrome, Type 3a:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053758.7CDH23, MYO7A, DFNB31, USH1C
2MP:00053898.7CDH23, MYO7A, DFNB31, USH1C
3MP:00107718.6USH1C, DFNB31, MYO7A, CDH23
4MP:00053788.0USH1C, DFNB31, MYO7A, PCDH15, CDH23
5MP:00053867.3GPR98, USH1C, DFNB31, CLRN1, MYO7A, PCDH15
6MP:00053776.9CDH23, GPR98, USH1C, USH2A, DFNB31, CLRN1
7MP:00053916.8GPR98, USH1C, USH2A, DFNB31, CLRN1, MYO7A
8MP:00036316.8GPR98, USH1C, USH2A, DFNB31, CLRN1, MYO7A

Publications for Usher Syndrome, Type 3a

About this section

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

About this section

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

64
id Symbol AA change Variation ID SNP ID
1CLRN1p.Met120LysVAR_012241
2CLRN1p.Asn48LysVAR_030345
3CLRN1p.Leu150ProVAR_030346
4CLRN1p.Cys40GlyVAR_054555
5CLRN1p.Ser105ProVAR_054556
6CLRN1p.Ile168AsnVAR_071434

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

7 (show all 187)
id Gene Variation Type Significance SNP ID Assembly Location
1MYO7ANM_000260.3(MYO7A): c.448C> T (p.Arg150Ter)single nucleotide variantPathogenicrs121965079GRCh37Chr 11, 76867115: 76867115
2MYO7ANM_000260.3(MYO7A): c.700C> T (p.Gln234Ter)single nucleotide variantPathogenicrs41298133GRCh37Chr 11, 76868015: 76868015
3MYO7ANM_000260.3(MYO7A): c.635G> A (p.Arg212His)single nucleotide variantPathogenicrs28934610GRCh37Chr 11, 76867950: 76867950
4USH2ANM_206933.2(USH2A): c.2276G> T (p.Cys759Phe)single nucleotide variantPathogenicrs80338902GRCh37Chr 1, 216420460: 216420460
5USH2ANM_206933.2(USH2A): c.11864G> A (p.Trp3955Ter)single nucleotide variantPathogenicrs111033364GRCh37Chr 1, 215901574: 215901574
6USH2ANM_206933.2(USH2A): c.1256G> T (p.Cys419Phe)single nucleotide variantPathogenicrs121912600GRCh37Chr 1, 216497582: 216497582
7USH2ANM_206933.2(USH2A): c.2209C> T (p.Arg737Ter)single nucleotide variantPathogenicrs111033334GRCh37Chr 1, 216420527: 216420527
8HARSNM_002109.5(HARS): c.1361A> C (p.Tyr454Ser)single nucleotide variantPathogenicrs387906639GRCh37Chr 5, 140054361: 140054361
9USH2ANM_206933.2(USH2A): c.2299delG (p.Glu767Serfs)deletionPathogenicrs80338903GRCh37Chr 1, 216420437: 216420437
10MYO7ANM_000260.3(MYO7A): c.1097T> C (p.Leu366Pro)single nucleotide variantLikely pathogenicrs397516281GRCh37Chr 11, 76871225: 76871225
11MYO7ANM_000260.3(MYO7A): c.1200+1G> Asingle nucleotide variantPathogenicrs397516283GRCh37Chr 11, 76871329: 76871329
12MYO7ANM_000260.3(MYO7A): c.132+5G> Asingle nucleotide variantLikely pathogenicrs397516284GRCh37Chr 11, 76853873: 76853873
13MYO7ANM_000260.3(MYO7A): c.1344-2A> Gsingle nucleotide variantLikely pathogenicrs111033415GRCh37Chr 11, 76873164: 76873164
14MYO7ANM_000260.3(MYO7A): c.1370C> T (p.Ala457Val)single nucleotide variantLikely pathogenicrs111033286GRCh37Chr 11, 76873192: 76873192
15MYO7ANM_000260.3(MYO7A): c.1403_1404insGCA (p.Arg467_His468insGln)insertionLikely pathogenicrs111033219GRCh37Chr 11, 76873225: 76873226
16MYO7ANM_000260.3(MYO7A): c.141G> A (p.Trp47Ter)single nucleotide variantPathogenicrs397516285GRCh37Chr 11, 76858852: 76858852
17MYO7ANM_000260.3(MYO7A): c.1556G> A (p.Gly519Asp)single nucleotide variantPathogenicrs111033206GRCh37Chr 11, 76873900: 76873900
18MYO7ANM_000260.3(MYO7A): c.1556delG (p.Gly519Alafs)deletionPathogenicrs111033206GRCh37Chr 11, 76873900: 76873900
19MYO7ANM_000260.3(MYO7A): c.1690+1G> Asingle nucleotide variantLikely pathogenicrs111033389GRCh37Chr 11, 76874035: 76874035
20MYO7ANM_000260.3(MYO7A): c.1833_1838dupCAGCCA (p.Ser612_Gln613insHisSer)duplicationLikely pathogenicrs397516290GRCh37Chr 11, 76883829: 76883834
21MYO7ANM_000260.3(MYO7A): c.19-1G> Asingle nucleotide variantLikely pathogenicrs111033426GRCh37Chr 11, 76853754: 76853754
22MYO7ANM_000260.3(MYO7A): c.1900C> T (p.Arg634Ter)single nucleotide variantPathogenicrs111033180GRCh37Chr 11, 76883896: 76883896
23MYO7ANM_000260.3(MYO7A): c.1952_1953insAG (p.Cys652Glyfs)insertionLikely pathogenicrs111033510GRCh37Chr 11, 76885818: 76885819
24MYO7ANM_000260.3(MYO7A): c.1963C> T (p.Gln655Ter)single nucleotide variantPathogenicrs397516291GRCh37Chr 11, 76885829: 76885829
25MYO7ANM_000260.3(MYO7A): c.2005C> T (p.Arg669Ter)single nucleotide variantPathogenicrs111033201GRCh37Chr 11, 76885871: 76885871
26MYO7ANM_000260.3(MYO7A): c.2094+1G> Asingle nucleotide variantPathogenicrs111033404GRCh37Chr 11, 76885961: 76885961
27MYO7ANM_000260.3(MYO7A): c.2094+1G> Csingle nucleotide variantLikely pathogenicrs111033404GRCh37Chr 11, 76885961: 76885961
28MYO7ANM_000260.3(MYO7A): c.2172delC (p.Lys725Argfs)deletionPathogenicrs397516294GRCh37Chr 11, 76886495: 76886495
29MYO7ANM_000260.3(MYO7A): c.2187+1G> Asingle nucleotide variantLikely pathogenicrs111033290GRCh37Chr 11, 76886511: 76886511
30MYO7ANM_000260.3(MYO7A): c.2283-1G> Tsingle nucleotide variantPathogenicrs397516295GRCh37Chr 11, 76890090: 76890090
31MYO7ANM_000260.3(MYO7A): c.2904G> T (p.Glu968Asp)single nucleotide variantPathogenicrs111033233GRCh37Chr 11, 76892635: 76892635
32MYO7ANM_000260.3(MYO7A): c.3327delC (p.His1109Glnfs)deletionPathogenicrs111033433GRCh37Chr 11, 76894154: 76894154
33MYO7ANM_000260.3(MYO7A): c.3508G> A (p.Glu1170Lys)single nucleotide variantPathogenicrs111033214GRCh37Chr 11, 76900393: 76900393
34MYO7ANM_000260.3(MYO7A): c.3532delC (p.Gln1178Serfs)deletionLikely pathogenicrs111033239GRCh37Chr 11, 76900417: 76900417
35MYO7ANM_000260.3(MYO7A): c.3533A> C (p.Gln1178Pro)single nucleotide variantLikely pathogenicrs111033482GRCh37Chr 11, 76900418: 76900418
36MYO7ANM_000260.3(MYO7A): c.3544_3545insCA (p.Asn1182Thrfs)insertionLikely pathogenicrs111033390GRCh37Chr 11, 76900429: 76900430
37MYO7ANM_000260.3(MYO7A): c.3572G> A (p.Gly1191Asp)single nucleotide variantLikely pathogenicrs397516301GRCh37Chr 11, 76900457: 76900457
38MYO7ANM_000260.3(MYO7A): c.3696_3706delAAGGACCTTTG (p.Arg1232Serfs)deletionPathogenicrs397516303GRCh37Chr 11, 76901130: 76901140
39MYO7ANM_000260.3(MYO7A): c.3719G> A (p.Arg1240Gln)single nucleotide variantPathogenicrs111033178GRCh37Chr 11, 76901153: 76901153
40MYO7ANM_000260.3(MYO7A): c.3728dupC (p.Pro1244Alafs)duplicationPathogenicrs397516304GRCh37Chr 11, 76901162: 76901163
41MYO7ANM_000260.3(MYO7A): c.3764delA (p.Lys1255Argfs)deletionPathogenicrs111033347GRCh37Chr 11, 76901755: 76901755
42MYO7ANM_000260.3(MYO7A): c.397C> T (p.His133Tyr)single nucleotide variantLikely pathogenicrs111033403GRCh37Chr 11, 76867064: 76867064
43MYO7ANM_000260.3(MYO7A): c.397dupC (p.His133Profs)duplicationLikely pathogenicrs111033187GRCh37Chr 11, 76867064: 76867065
44MYO7ANM_000260.3(MYO7A): c.401T> A (p.Ile134Asn)single nucleotide variantLikely pathogenicrs111033181GRCh37Chr 11, 76867068: 76867068
45MYO7ANM_000260.3(MYO7A): c.4065delC (p.His1355Glnfs)deletionLikely pathogenicrs111033202GRCh37Chr 11, 76903236: 76903236
46MYO7ANM_000260.3(MYO7A): c.4293G> A (p.Trp1431Ter)single nucleotide variantPathogenicrs397516308GRCh37Chr 11, 76905539: 76905539
47MYO7ANM_000260.3(MYO7A): c.4411T> C (p.Ser1471Pro)single nucleotide variantLikely pathogenicrs397516310GRCh37Chr 11, 76908613: 76908613
48MYO7ANM_000260.3(MYO7A): c.4442-2A> Csingle nucleotide variantLikely pathogenicrs111033337GRCh37Chr 11, 76909538: 76909538
49MYO7ANM_000260.3(MYO7A): c.4544_4551delAGATCATGinsCA (p.Glu1515_Met1517delinsAla)indelPathogenicrs111033259GRCh37Chr 11, 76909642: 76909649
50MYO7ANM_000260.3(MYO7A): c.458G> A (p.Cys153Tyr)single nucleotide variantLikely pathogenicrs397516312GRCh37Chr 11, 76867125: 76867125
51MYO7ANM_000260.3(MYO7A): c.4821T> A (p.Tyr1607Ter)single nucleotide variantPathogenicrs397516315GRCh37Chr 11, 76910832: 76910832
52MYO7ANM_000260.3(MYO7A): c.494C> T (p.Thr165Met)single nucleotide variantPathogenicrs111033174GRCh37Chr 11, 76867729: 76867729
53MYO7ANM_000260.3(MYO7A): c.496delG (p.Glu166Argfs)deletionPathogenicrs111033448GRCh37Chr 11, 76867731: 76867731
54MYO7ANM_000260.3(MYO7A): c.5101C> T (p.Arg1701Ter)single nucleotide variantPathogenicrs111033182GRCh37Chr 11, 76913402: 76913402
55MYO7ANM_000260.3(MYO7A): c.5208dupC (p.Lys1737Glnfs)duplicationLikely pathogenicrs111033276GRCh37Chr 11, 76914144: 76914145
56MYO7ANM_000260.3(MYO7A): c.5392C> T (p.Gln1798Ter)single nucleotide variantPathogenicrs397516317GRCh37Chr 11, 76915186: 76915186
57MYO7ANM_000260.3(MYO7A): c.5573T> C (p.Leu1858Pro)single nucleotide variantPathogenicrs368657015GRCh37Chr 11, 76916599: 76916599
58MYO7ANM_000260.3(MYO7A): c.5581dupC (p.Arg1861Profs)duplicationPathogenicrs397516320GRCh37Chr 11, 76916607: 76916608
59MYO7ANM_000260.3(MYO7A): c.5617C> T (p.Arg1873Trp)single nucleotide variantPathogenicrs397516321GRCh37Chr 11, 76916643: 76916643
60MYO7ANM_000260.3(MYO7A): c.5618G> A (p.Arg1873Gln)single nucleotide variantLikely pathogenicrs397516322GRCh37Chr 11, 76916644: 76916644
61MYO7ANM_000260.3(MYO7A): c.5660C> T (p.Pro1887Leu)single nucleotide variantLikely pathogenicrs199606180GRCh37Chr 11, 76917165: 76917165
62MYO7ANM_000260.3(MYO7A): c.5804T> C (p.Leu1935Pro)single nucleotide variantLikely pathogenicrs397516323GRCh37Chr 11, 76918395: 76918395
63MYO7ANM_000260.3(MYO7A): c.5824G> T (p.Gly1942Ter)single nucleotide variantPathogenicrs111033192GRCh37Chr 11, 76918415: 76918415
64MYO7ANM_000260.3(MYO7A): c.582delC (p.Ile195Phefs)deletionPathogenicrs111033238GRCh37Chr 11, 76867817: 76867817
65MYO7ANM_000260.3(MYO7A): c.587T> C (p.Leu196Pro)single nucleotide variantLikely pathogenicrs397516324GRCh37Chr 11, 76867822: 76867822
66MYO7ANM_000260.3(MYO7A): c.5886_5888delCTT (p.Phe1963del)deletionPathogenicrs111033232GRCh37Chr 11, 76919504: 76919506
67MYO7ANM_000260.3(MYO7A): c.5945G> A (p.Gly1982Glu)single nucleotide variantLikely pathogenicrs111033250GRCh37Chr 11, 76919742: 76919742
68MYO7ANM_000260.3(MYO7A): c.6025delG (p.Ala2009Profs)deletionPathogenicrs397516326GRCh37Chr 11, 76919822: 76919822
69MYO7ANM_000260.3(MYO7A): c.6029A> G (p.Asp2010Gly)single nucleotide variantPathogenicrs111033175GRCh37Chr 11, 76919826: 76919826
70MYO7ANM_000260.3(MYO7A): c.6070C> T (p.Arg2024Ter)single nucleotide variantPathogenicrs111033198GRCh37Chr 11, 76922215: 76922215
71MYO7ANM_000260.3(MYO7A): c.631A> G (p.Ser211Gly)single nucleotide variantLikely pathogenicrs111033486GRCh37Chr 11, 76867946: 76867946
72MYO7ANM_000260.3(MYO7A): c.640G> A (p.Gly214Arg)single nucleotide variantPathogenicrs111033283GRCh37Chr 11, 76867955: 76867955
73MYO7ANM_000260.3(MYO7A): c.6439-2A> Gsingle nucleotide variantPathogenicrs397516330GRCh37Chr 11, 76924903: 76924903
74MYO7ANM_000260.3(MYO7A): c.6498C> A (p.Tyr2166Ter)single nucleotide variantPathogenicrs397516331GRCh37Chr 11, 76924964: 76924964
75MYO7ANM_000260.3(MYO7A): c.6560G> A (p.Gly2187Asp)single nucleotide variantLikely pathogenicrs397516332GRCh37Chr 11, 76925653: 76925653
76MYO7ANM_000260.3(MYO7A): c.722G> A (p.Arg241His)single nucleotide variantLikely pathogenicrs111033284GRCh37Chr 11, 76868037: 76868037
77MYO7ANM_000260.3(MYO7A): c.999T> G (p.Tyr333Ter)single nucleotide variantPathogenicrs111033285GRCh37Chr 11, 76869472: 76869472
78CLRN1NM_001195794.1(CLRN1): c.567T> G (p.Tyr189Ter)single nucleotide variantPathogenicrs121908140GRCh37Chr 3, 150645894: 150645894
79CLRN1NM_001195794.1(CLRN1): c.359T> A (p.Met120Lys)single nucleotide variantPathogenicrs121908141GRCh37Chr 3, 150659443: 150659443
80CLRN1CLRN1, 3-BP DEL, 459ATTdeletionPathogenic
81CLRN1NM_001195794.1(CLRN1): c.144T> G (p.Asn48Lys)single nucleotide variantPathogenicrs111033258GRCh37Chr 3, 150690352: 150690352
82CLRN1NM_001195794.1(CLRN1): c.488T> C (p.Leu163Pro)single nucleotide variantPathogenicrs121908142GRCh37Chr 3, 150645973: 150645973
83CLRN1NM_001195794.1(CLRN1): c.189C> A (p.Tyr63Ter)single nucleotide variantPathogenicrs111033267GRCh37Chr 3, 150690307: 150690307
84CLRN1CLRN1, 23-BP DEL, NT187deletionPathogenic
85CLRN1NM_001195794.1(CLRN1): c.118T> G (p.Cys40Gly)single nucleotide variantPathogenicrs121908143GRCh37Chr 3, 150690378: 150690378
86DFNB31NM_015404.3(DFNB31): c.1267C> T (p.Arg423Ter)single nucleotide variantPathogenicrs397517255GRCh37Chr 9, 117186763: 117186763
87DFNB31NM_015404.3(DFNB31): c.643delG (p.Val215Cysfs)deletionPathogenicrs397517258GRCh37Chr 9, 117241027: 117241027
88CDH23NM_022124.5(CDH23): c.2012delT (p.Phe671Serfs)deletionPathogenicrs397517313GRCh37Chr 10, 73447429: 73447429
89NM_022124.5(CDH23): c.3481C> T (p.Arg1161Ter)single nucleotide variantPathogenicrs397517323GRCh37Chr 10, 73485179: 73485179
90NM_022124.5(CDH23): c.3628C> T (p.Gln1210Ter)single nucleotide variantPathogenicrs397517326GRCh37Chr 10, 73490274: 73490274
91NM_022124.5(CDH23): c.3706C> T (p.Arg1236Ter)single nucleotide variantPathogenicrs397517327GRCh37Chr 10, 73490352: 73490352
92CDH23NM_022124.5(CDH23): c.4309C> T (p.Arg1437Ter)single nucleotide variantPathogenicrs397517329GRCh37Chr 10, 73498354: 73498354
93CDH23NM_022124.5(CDH23): c.46delG (p.Val16Cysfs)deletionPathogenicrs397517331GRCh37Chr 10, 73199634: 73199634
94CDH23NM_022124.5(CDH23): c.5272C> T (p.Gln1758Ter)single nucleotide variantPathogenicrs397517337GRCh37Chr 10, 73539108: 73539108
95CDH23NM_022124.5(CDH23): c.5712+1G> Asingle nucleotide variantPathogenicrs397517341GRCh37Chr 10, 73544858: 73544858
96CDH23NM_022124.5(CDH23): c.5712G> A (p.Thr1904=)single nucleotide variantPathogenicrs397517342GRCh37Chr 10, 73544857: 73544857
97CDH23NM_022124.5(CDH23): c.5923+1G> Asingle nucleotide variantPathogenicrs397517346GRCh37Chr 10, 73548800: 73548800
98CDH23NM_022124.5(CDH23): c.6049+1G> Asingle nucleotide variantPathogenicrs111033247GRCh37Chr 10, 73550171: 73550171
99CDH23NM_022124.5(CDH23): c.6049G> A (p.Gly2017Ser)single nucleotide variantLikely pathogenicrs183431253GRCh37Chr 10, 73550170: 73550170
100CDH23NM_022124.5(CDH23): c.6050-9G> Asingle nucleotide variantPathogenicrs367928692GRCh37Chr 10, 73550880: 73550880
101CDH23NM_022124.5(CDH23): c.6412delG (p.Glu2138Serfs)deletionLikely pathogenicrs111033473GRCh37Chr 10, 73553097: 73553097
102CDH23NM_022124.5(CDH23): c.6968delC (p.Pro2323Leufs)deletionPathogenicrs397517350GRCh37Chr 10, 73558249: 73558249
103CDH23NM_022124.5(CDH23): c.7362G> A (p.Thr2454=)single nucleotide variantLikely pathogenicrs370983472GRCh37Chr 10, 73559386: 73559386
104CDH23NM_022124.5(CDH23): c.7776G> A (p.Trp2592Ter)single nucleotide variantPathogenicrs397517353GRCh37Chr 10, 73563081: 73563081
105CDH23NM_022124.5(CDH23): c.7823G> A (p.Arg2608His)single nucleotide variantLikely pathogenicrs202052174GRCh37Chr 10, 73563128: 73563128
106CDH23NM_022124.5(CDH23): c.7921G> C (p.Asp2641His)single nucleotide variantLikely pathogenicrs397517354GRCh37Chr 10, 73565611: 73565611
107CDH23NM_022124.5(CDH23): c.8781C> A (p.Tyr2927Ter)single nucleotide variantPathogenicrs397517362GRCh37Chr 10, 73569635: 73569635
108CDH23NM_022124.5(CDH23): c.9629_9632delTCAA (p.Ile3210Argfs)deletionPathogenicrs397517367GRCh37Chr 10, 73572643: 73572646
109GPR98NM_032119.3(GPR98): c.10229_10231dupTGG (p.Val3410_Ala3411insVal)duplicationLikely pathogenicrs397517418GRCh37Chr 5, 90024553: 90024555
110GPR98NM_032119.3(GPR98): c.11253C> G (p.Tyr3751Ter)single nucleotide variantPathogenicrs376689763GRCh37Chr 5, 90049522: 90049522
111GPR98NM_032119.3(GPR98): c.14973-2A> Gsingle nucleotide variantPathogenicrs371981035GRCh37Chr 5, 90106048: 90106048
112GPR98NM_032119.3(GPR98): c.17662delT (p.Ser5888Hisfs)deletionPathogenicrs397517426GRCh37Chr 5, 90151625: 90151625
113GPR98NM_032119.3(GPR98): c.2398C> T (p.Arg800Ter)single nucleotide variantPathogenicrs373780305GRCh37Chr 5, 89938703: 89938703
114GPR98NM_032119.3(GPR98): c.2870dupA (p.Asn957Lysfs)duplicationPathogenicrs397517429GRCh37Chr 5, 89940658: 89940659
115GPR98NM_032119.3(GPR98): c.7374_7375delTG (p.Glu2459Glyfs)deletionPathogenicrs397517435GRCh37Chr 5, 89989947: 89989948
116GPR98NM_032119.3(GPR98): c.7406G> A (p.Trp2469Ter)single nucleotide variantPathogenicrs397517436GRCh37Chr 5, 89989979: 89989979
117GPR98NM_032119.3(GPR98): c.8737delG (p.Val2913Tyrfs)deletionPathogenicrs397517441GRCh37Chr 5, 90004639: 90004639
118PCDH15NM_033056.3(PCDH15): c.16delT (p.Tyr6Ilefs)deletionPathogenicrs397517451GRCh37Chr 10, 56424007: 56424007
119PCDH15NM_033056.3(PCDH15): c.1998-2A> Gsingle nucleotide variantPathogenicrs397517452GRCh37Chr 10, 55839186: 55839186
120PCDH15NM_033056.3(PCDH15): c.3316C> T (p.Arg1106Ter)single nucleotide variantPathogenicrs202033121GRCh37Chr 10, 55698632: 55698632
121USH1CNM_153676.3(USH1C): c.2167C> T (p.Gln723Ter)single nucleotide variantLikely pathogenicrs146451547GRCh37Chr 11, 17526211: 17526211
122USH1GNM_173477.4(USH1G): c.1373A> T (p.Asp458Val)single nucleotide variantLikely pathogenicrs397517925GRCh37Chr 17, 72915558: 72915558
123CLRN1NM_001195794.1(CLRN1): c.127G> A (p.Gly43Arg)single nucleotide variantLikely pathogenicrs111033434GRCh37Chr 3, 150690369: 150690369
124CLRN1NM_001195794.1(CLRN1): c.301_305delGTCAT (p.Val101Serfs)deletionPathogenicrs397517932GRCh37Chr 3, 150659497: 150659501
125CLRN1NM_001195794.1(CLRN1): c.368C> A (p.Ala123Asp)single nucleotide variantPathogenicrs374963432GRCh37Chr 3, 150659434: 150659434
126USH2ANM_206933.2(USH2A): c.10190_10191delAA (p.Lys3397Argfs)deletionPathogenicrs397517964GRCh37Chr 1, 215960208: 215960209
127USH2ANM_206933.2(USH2A): c.1036A> C (p.Asn346His)single nucleotide variantLikely pathogenicrs369522997GRCh37Chr 1, 216498754: 216498754
128USH2ANM_206933.2(USH2A): c.10450C> T (p.Arg3484Ter)single nucleotide variantLikely pathogenicrs111033379GRCh37Chr 1, 215956215: 215956215
129USH2ANM_206933.2(USH2A): c.10561T> C (p.Trp3521Arg)single nucleotide variantPathogenicrs111033264GRCh37Chr 1, 215956104: 215956104
130USH2ANM_206933.2(USH2A): c.10712C> T (p.Thr3571Met)single nucleotide variantLikely pathogenicrs202175091GRCh37Chr 1, 215955412: 215955412
131USH2ANM_206933.2(USH2A): c.10724G> A (p.Cys3575Tyr)single nucleotide variantLikely pathogenicrs111033265GRCh37Chr 1, 215955400: 215955400
132USH2ANM_206933.2(USH2A): c.10759C> T (p.Gln3587Ter)single nucleotide variantLikely pathogenicrs111033418GRCh37Chr 1, 215953365: 215953365
133USH2ANM_206933.2(USH2A): c.11048-1G> Asingle nucleotide variantPathogenicrs111033414GRCh37Chr 1, 215933186: 215933186
134USH2ANM_206933.2(USH2A): c.11231+1G> Tsingle nucleotide variantLikely pathogenicrs111033382GRCh37Chr 1, 215933001: 215933001
135USH2ANM_206933.2(USH2A): c.11411delC (p.Pro3804Leufs)deletionPathogenicrs397517973GRCh37Chr 1, 215916656: 215916656
136USH2ANM_206933.2(USH2A): c.1143+1G> Asingle nucleotide variantPathogenicrs397517974GRCh37Chr 1, 216498646: 216498646
137USH2ANM_206933.2(USH2A): c.11954G> A (p.Trp3985Ter)single nucleotide variantPathogenicrs397517976GRCh37Chr 1, 215901484: 215901484
138USH2ANM_206933.2(USH2A): c.12067-1G> Csingle nucleotide variantPathogenicrs397517977GRCh37Chr 1, 215853719: 215853719
139USH2ANM_206933.2(USH2A): c.12067-2A> Gsingle nucleotide variantPathogenicrs397517978GRCh37Chr 1, 215853720: 215853720
140USH2ANM_206933.2(USH2A): c.12295-2A> Gsingle nucleotide variantPathogenicrs151148854GRCh37Chr 1, 215848960: 215848960
141USH2ANM_206933.2(USH2A): c.1227G> C (p.Trp409Cys)single nucleotide variantLikely pathogenicrs397517979GRCh37Chr 1, 216497611: 216497611
142USH2ANM_206933.2(USH2A): c.12294+1G> Csingle nucleotide variantLikely pathogenicrs111033526GRCh37Chr 1, 215853490: 215853490
143USH2ANM_206933.2(USH2A): c.12714T> G (p.Tyr4238Ter)single nucleotide variantPathogenicrs397517981GRCh37Chr 1, 215848539: 215848539
144USH2ANM_206933.2(USH2A): c.12739G> A (p.Gly4247Arg)single nucleotide variantLikely pathogenicrs397517982GRCh37Chr 1, 215848514: 215848514
145USH2ANM_206933.2(USH2A): c.12868C> T (p.Gln4290Ter)single nucleotide variantPathogenicrs397517983GRCh37Chr 1, 215848385: 215848385
146USH2ANM_206933.2(USH2A): c.13130C> A (p.Ser4377Ter)single nucleotide variantLikely pathogenicrs111033385GRCh37Chr 1, 215848123: 215848123
147USH2ANM_206933.2(USH2A): c.13313G> A (p.Trp4438Ter)single nucleotide variantLikely pathogenicrs111033417GRCh37Chr 1, 215847940: 215847940
148USH2ANM_206933.2(USH2A): c.14031dupA (p.Ala4678Serfs)duplicationPathogenicrs397517988GRCh37Chr 1, 215844415: 215844416
149USH2ANM_206933.2(USH2A): c.14180G> A (p.Trp4727Ter)single nucleotide variantPathogenicrs397517989GRCh37Chr 1, 215824097: 215824097
150USH2ANM_206933.2(USH2A): c.14287G> A (p.Gly4763Arg)single nucleotide variantLikely pathogenicrs397517990GRCh37Chr 1, 215823990: 215823990
151USH2ANM_206933.2(USH2A): c.14911C> T (p.Arg4971Ter)single nucleotide variantPathogenicrs397517994GRCh37Chr 1, 215813957: 215813957
152USH2ANM_206933.2(USH2A): c.1606T> C (p.Cys536Arg)single nucleotide variantPathogenicrs111033273GRCh37Chr 1, 216495263: 216495263
153USH2ANM_206933.2(USH2A): c.1841-2A> Gsingle nucleotide variantPathogenicrs397518003GRCh37Chr 1, 216462754: 216462754
154USH2ANM_206933.2(USH2A): c.2898delG (p.Thr967Leufs)deletionPathogenicrs397518008GRCh37Chr 1, 216405390: 216405390
155USH2ANM_206933.2(USH2A): c.3309C> A (p.Tyr1103Ter)single nucleotide variantPathogenicrs397518011GRCh37Chr 1, 216380622: 216380622
156USH2ANM_206933.2(USH2A): c.3435delA (p.Val1147Serfs)deletionPathogenicrs397518012GRCh37Chr 1, 216373345: 216373345
157USH2ANM_206933.2(USH2A): c.3547_3548delAT (p.Ile1183Phefs)deletionPathogenicrs397518013GRCh37Chr 1, 216373232: 216373233
158USH2ANM_206933.2(USH2A): c.3558delT (p.Cys1186Trpfs)deletionPathogenicrs397518014GRCh37Chr 1, 216373222: 216373222
159USH2ANM_206933.2(USH2A): c.4133_4134dupTC (p.Asn1379Serfs)duplicationPathogenicrs397518015GRCh37Chr 1, 216370012: 216370013
160USH2ANM_206933.2(USH2A): c.4338_4339delCT (p.Cys1447Glnfs)deletionPathogenicrs111033367GRCh37Chr 1, 216363622: 216363623
161USH2ANM_206933.2(USH2A): c.5001dupA (p.Gly1668Argfs)duplicationPathogenicrs397518018GRCh37Chr 1, 216258205: 216258206
162USH2ANM_206933.2(USH2A): c.5581G> A (p.Gly1861Ser)single nucleotide variantLikely pathogenicrs375668376GRCh37Chr 1, 216246634: 216246634
163USH2ANM_206933.2(USH2A): c.5788C> T (p.Arg1930Ter)single nucleotide variantPathogenicrs397518021GRCh37Chr 1, 216246300: 216246300
164USH2ANM_206933.2(USH2A): c.5857+2T> Csingle nucleotide variantPathogenicrs397518022GRCh37Chr 1, 216246229: 216246229
165USH2ANM_206933.2(USH2A): c.5858-1G> Asingle nucleotide variantPathogenicrs397518023GRCh37Chr 1, 216243635: 216243635
166USH2ANM_206933.2(USH2A): c.6224G> A (p.Trp2075Ter)single nucleotide variantPathogenicrs111033386GRCh37Chr 1, 216219874: 216219874
167USH2ANM_206933.2(USH2A): c.6289_6302delATCTATTCAGGCAG (p.Ile2097Terfs)deletionLikely pathogenicrs111033268GRCh37Chr 1, 216219796: 216219809
168USH2ANM_206933.2(USH2A): c.653T> A (p.Val218Glu)single nucleotide variantLikely pathogenicrs397518026GRCh37Chr 1, 216538426: 216538426
169USH2ANM_206933.2(USH2A): c.7244C> G (p.Ser2415Ter)single nucleotide variantPathogenicrs397518029GRCh37Chr 1, 216108014: 216108014
170USH2ANM_206933.2(USH2A): c.820C> T (p.Arg274Ter)single nucleotide variantPathogenicrs397518036GRCh37Chr 1, 216500961: 216500961
171USH2ANM_206933.2(USH2A): c.8431C> A (p.Pro2811Thr)single nucleotide variantLikely pathogenicrs111033529GRCh37Chr 1, 216052233: 216052233
172USH2ANM_206933.2(USH2A): c.8559-2A> Gsingle nucleotide variantPathogenicrs397518039GRCh37Chr 1, 216051224: 216051224
173USH2ANM_206933.2(USH2A): c.8981G> A (p.Trp2994Ter)single nucleotide variantPathogenicrs397518041GRCh37Chr 1, 216019240: 216019240
174USH2ANM_206933.2(USH2A): c.9159T> G (p.Tyr3053Ter)single nucleotide variantPathogenicrs397518042GRCh37Chr 1, 216017735: 216017735
175USH2ANM_206933.2(USH2A): c.920_923dupGCCA (p.His308Glnfs)duplicationPathogenicrs397518043GRCh37Chr 1, 216498867: 216498870
176USH2ANM_206933.2(USH2A): c.9304C> T (p.Gln3102Ter)single nucleotide variantPathogenicrs397518046GRCh37Chr 1, 216011400: 216011400
177USH2ANM_206933.2(USH2A): c.9371+1G> Csingle nucleotide variantPathogenicrs41308425GRCh37Chr 1, 216011332: 216011332
178USH2ANM_206933.2(USH2A): c.9424G> T (p.Gly3142Ter)single nucleotide variantPathogenicrs397518048GRCh37Chr 1, 215990485: 215990485
179USH2ANM_206933.2(USH2A): c.9459C> A (p.Cys3153Ter)single nucleotide variantPathogenicrs73090721GRCh37Chr 1, 215990450: 215990450
180USH2ANM_206933.2(USH2A): c.949C> A (p.Arg317=)single nucleotide variantPathogenicrs111033272GRCh37Chr 1, 216498841: 216498841
181USH2ANM_206933.2(USH2A): c.9799T> C (p.Cys3267Arg)single nucleotide variantLikely pathogenicrs111033263GRCh37Chr 1, 215972408: 215972408
182CDH23NM_022124.5(CDH23): c.5237G> A (p.Arg1746Gln)single nucleotide variantPathogenicrs111033270GRCh37Chr 10, 73539073: 73539073
183CDH23NM_022124.5(CDH23): c.6442G> A (p.Asp2148Asn)single nucleotide variantPathogenicrs111033271GRCh37Chr 10, 73553127: 73553127
184PCDH15NM_033056.3(PCDH15): c.733C> T (p.Arg245Ter)single nucleotide variantPathogenicrs111033260GRCh37Chr 10, 56077174: 56077174
185USH1CNM_005709.3(USH1C): c.238dupC (p.Arg80Profs)duplicationPathogenicrs397515359GRCh37Chr 11, 17552956: 17552956
186USH1CNM_005709.3(USH1C): c.216G> A (p.Val72=)single nucleotide variantPathogenicrs151045328GRCh37Chr 11, 17552978: 17552978
187MT-TS2m.12258C> Asingle nucleotide variantPathogenicrs118203888GRCh37Chr MT, 12258: 12258

Expression for genes affiliated with Usher Syndrome, Type 3a

About this section

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

Pathways for genes affiliated with Usher Syndrome, Type 3a

About this section

Pathways related to Usher Syndrome, Type 3a according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.6MT-TS2, HARS

Compounds for genes affiliated with Usher Syndrome, Type 3a

About this section

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

About this section

Cellular components related to Usher Syndrome, Type 3a according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1photoreceptor inner segmentGO:00019179.4MYO7A, USH1C
2photoreceptor outer segmentGO:00017509.0USH1C, MYO7A, PCDH15
3synapseGO:00452028.8PCDH15, MYO7A, USH1C
4stereocilia ankle link complexGO:00021428.7DFNB31, USH2A, GPR98
5stereociliumGO:00324208.4CDH23, PCDH15, MYO7A, DFNB31, USH1C

Biological processes related to Usher Syndrome, Type 3a according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1homophilic cell adhesionGO:00071569.8CDH23, PCDH15
2response to stimulusGO:00508969.3CDH23, CLRN1, USH2A
3maintenance of organ identityGO:00484969.0GPR98, USH2A
4inner ear receptor stereocilium organizationGO:00601228.9DFNB31, GPR98
5equilibrioceptionGO:00509578.7USH1C, CDH23, PCDH15, MYO7A, CLRN1
6visual perceptionGO:00076018.2GPR98, USH2A, CLRN1, MYO7A, CDH23
7photoreceptor cell maintenanceGO:00454947.7CDH23, PCDH15, CLRN1, USH2A, USH1C, GPR98
8sensory perception of light stimulusGO:00509536.9GPR98, USH1C, USH2A, DFNB31, CDH23, PCDH15
9sensory perception of soundGO:00076056.8CDH23, PCDH15, MYO7A, CLRN1, DFNB31, USH2A

Molecular functions related to Usher Syndrome, Type 3a according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1calcium ion bindingGO:00055099.0CDH23, PCDH15, GPR98
2myosin bindingGO:00170228.8USH2A, GPR98

Products for genes affiliated with Usher Syndrome, Type 3a

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Usher Syndrome, Type 3a

About this section
4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet