MCID: USH006
MIFTS: 54

Usher Syndrome, Type 1b malady

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

Aliases & Classifications for Usher Syndrome, Type 1b

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Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 24GTR, 21GeneReviews, 51Orphanet, 67UniProtKB/Swiss-Prot, 65UMLS, 28ICD10 via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH
See all sources

Aliases & Descriptions for Usher Syndrome, Type 1b:

Name: Usher Syndrome, Type 1b 49 11 45 22 24
Usher Syndrome, Type 1e 11 45
Usher Syndrome, Type 1 45 22
Usher Syndrome Type 1 51 24
Ush1e 45 22
Ush1b 22 67
Ush1 45 51
Retinitis Pigmentosa and Congenital Deafness 45
Usher Syndrome, Type I, French Variety 45
Usher's Syndrome Type 1b 67
Usher Syndrome, Type Ie 65
 
Usher Syndrome, Type 1a 45
Usher Syndrome Type Ib 67
Usher Syndrome, Type I 65
Usher Syndrome Type I 21
Usher Syndrome 1b 67
Ush 1b 22
Ush 1 22
Ush1a 45
Ushib 67
Us1 45


Classifications:



Characteristics (Orphanet epidemiological data):

51
usher syndrome type 1:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal


External Ids:

OMIM49 276900
Orphanet51 231169
ICD10 via Orphanet28 H35.5
UMLS via Orphanet66 C0339533
MeSH36 D052245

Summaries for Usher Syndrome, Type 1b

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OMIM:49 Usher syndrome type I is an autosomal recessive condition characterized by profound congenital hearing impairment with... (276900) more...

MalaCards based summary: Usher Syndrome, Type 1b, also known as usher syndrome, type 1e, is related to usher syndrome, type 1c 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 1b is MYO7A (Myosin VIIA). Affiliated tissues include cerebellum, eye and retina, and related mouse phenotypes are vision/eye and hearing/vestibular/ear.

NIH Rare Diseases:45 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

UniProtKB/Swiss-Prot:67 Usher syndrome 1B: 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). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness.

GeneReviews summary for usher1

Related Diseases for Usher Syndrome, Type 1b

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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 Ii Usher Syndrome, Type 2b
Usher Syndrome Type 1h Usher Syndrome Type 1j
Usher Syndrome Type 1k

Diseases related to Usher Syndrome, Type 1b via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 71)
idRelated DiseaseScoreTop Affiliating Genes
1usher syndrome, type 1c30.5MYO7A, USH1C, USH1G
2usher syndrome, type 1d30.4CDH23, PCDH15, USH1C
3usher syndrome, type 1f29.9MYO7A, PCDH15, USH1C, USH1G
4usher syndrome10.8
5retinitis10.5
6adult syndrome10.4
7retinitis pigmentosa 110.4
8retinitis pigmentosa 210.4
9cone-rod dystrophy10.4
10retinitis pigmentosa10.4
11foster-kennedy syndrome10.4
12sensorineural hearing loss10.4
13hereditary retinal dystrophy10.4
14spiradenoma10.4
15auditory system disease10.4
16congenital nervous system abnormality10.4
17eye degenerative disease10.4
18eye disease10.4
19fundus dystrophy10.4
20globe disease10.4
21optic nerve disease10.4
22retinal degeneration10.4
23retinal disease10.4
24degenerative nerve diseases10.4
25hearing disorders and deafness10.4
26deafness and hereditary hearing loss10.4
27cone-rod dystrophy 110.4
28hearing loss/deafness10.4
29retinitis pigmentosa autosomal recessive10.4
30usher syndrome, type ik10.4
31usher syndrome, type ij10.4
32cone-rod dystrophy 310.3
33cone-rod dystrophy 1010.3
34usher syndrome, type 3a10.3
35retinitis pigmentosa 1010.3
36cone-rod dystrophy 1310.3
37retinitis pigmentosa 1310.3
38cone-rod dystrophy 510.3
39retinitis pigmentosa 310.3
40cone-rod dystrophy 410.3
41usher syndrome, type 2a10.2
42usher syndrome, type 2c10.2
43usher syndrome, type 2d10.2
44bronchiectasis10.2
45usher syndrome type 3b10.2
46usher syndrome, type 1g10.2
47child syndrome10.2
48developmental coordination disorder10.2
49color blindness10.2
50retinal vascular disease10.2

Graphical network of the top 20 diseases related to Usher Syndrome, Type 1b:



Diseases related to usher syndrome, type 1b

Symptoms for Usher Syndrome, Type 1b

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Symptoms by clinical synopsis from OMIM:

276900

Clinical features from OMIM:

276900

Symptoms:

 51 (show all 18)
  • 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
  • ataxia/incoordination/trouble of the equilibrium
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • autosomal recessive inheritance
  • cataract/lens opacification
  • hypermetropia
  • cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia
  • psychosis/schizophrenia/maniac disorder
  • enamel anomaly
  • cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy
  • delirium/hallucination
  • humour troubles/anxiety/depression/apathy/euphoria/irritability

HPO human phenotypes related to Usher Syndrome, Type 1b:

(show all 24)
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 nyctalopia hallmark (90%) HP:0000662
5 visual field defect hallmark (90%) HP:0001123
6 incoordination hallmark (90%) HP:0002311
7 abnormality of retinal pigmentation hallmark (90%) HP:0007703
8 cognitive impairment hallmark (90%) HP:0100543
9 cataract typical (50%) HP:0000518
10 hypermetropia typical (50%) HP:0000540
11 aplasia/hypoplasia of the cerebellum typical (50%) HP:0007360
12 abnormality of dental enamel occasional (7.5%) HP:0000682
13 hallucinations occasional (7.5%) HP:0000738
14 cerebral cortical atrophy occasional (7.5%) HP:0002120
15 autosomal recessive inheritance HP:0000007
16 sensorineural hearing impairment HP:0000407
17 rod-cone dystrophy HP:0000510
18 undetectable electroretinogram HP:0000550
19 visual loss HP:0000572
20 motor delay HP:0001270
21 heterogeneous HP:0001425
22 absent vestibular function HP:0008555
23 congenital sensorineural hearing impairment HP:0008527
24 vestibular areflexia HP:0008568

Drugs & Therapeutics for Usher Syndrome, Type 1b

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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 PigmentosaRecruitingNCT01530659Phase 2
3A Study to Determine the Long-Term Safety, Tolerability and Biological Activity of UshStat® in Patients With Usher Syndrome Type 1BEnrolling by invitationNCT02065011Phase 1, Phase 2
4Study of Usher Syndromes, Type 1 and Type 2CompletedNCT00001347
5Natural History and Genetic Studies of Usher SyndromeActive, not recruitingNCT00106743

Search NIH Clinical Center for Usher Syndrome, Type 1b

Genetic Tests for Usher Syndrome, Type 1b

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Genetic tests related to Usher Syndrome, Type 1b:

id Genetic test Affiliating Genes
1 Usher Syndrome Type I22 USH1H
2 Usher Syndrome Type 1b22 MYO7A
3 Usher Syndrome Type 1e22
4 Usher Syndrome, Type 124
5 Usher Syndrome, Type 1b24

Anatomical Context for Usher Syndrome, Type 1b

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MalaCards organs/tissues related to Usher Syndrome, Type 1b:

33
Cerebellum, Eye, Retina

Animal Models for Usher Syndrome, Type 1b or affiliated genes

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MGI Mouse Phenotypes related to Usher Syndrome, Type 1b:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.1CDH23, MYO7A, PCDH15, USH1C, USH1G
2MP:00053778.0CDH23, MYO7A, PCDH15, USH1C, USH1G

Publications for Usher Syndrome, Type 1b

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Articles related to Usher Syndrome, Type 1b:

(show all 11)
idTitleAuthorsYear
1
EIAV-based retinal gene therapy in the shaker1 mouse model for usher syndrome type 1B: development of UshStat. (24705452)
2014
2
Gene therapy strategies for Usher syndrome type 1B. (22183338)
2012
3
Lentiviral gene replacement therapy of retinas in a mouse model for Usher syndrome type 1B. (17268537)
2007
4
Analysis of MYO7A in a Moroccan family with Usher syndrome type 1B: novel loss-of-function mutation and non-pathogenicity of p.Y1719C. (17960123)
2007
5
Identification of a rat model for usher syndrome type 1B by N-ethyl-N-nitrosourea mutagenesis-driven forward genetics. (15965244)
2005
6
Electroretinographic anomalies in mice with mutations in Myo7a, the gene involved in human Usher syndrome type 1B. (11222540)
2001
7
Origin of vestibular dysfunction in Usher syndrome type 1B. (11162241)
2001
8
Hearing impairment related to age in Usher syndrome types 1B and 2A. (10208682)
1999
9
Map refinement of the Usher syndrome type 1B gene, MYO7A, relative to 11q13.5 microsatellite markers. (9761396)
1998
10
Defective myosin VIIA gene responsible for Usher syndrome type 1B. (7870171)
1995
11
Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type 1B. (7568224)
1995

Variations for Usher Syndrome, Type 1b

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UniProtKB/Swiss-Prot genetic disease variations for Usher Syndrome, Type 1b:

67 (show all 45)
id Symbol AA change Variation ID SNP ID
1MYO7Ap.Leu16SerVAR_009315rs1052030
2MYO7Ap.Gly25ArgVAR_009316
3MYO7Ap.Arg212CysVAR_009318
4MYO7Ap.Arg212HisVAR_009319rs28934610
5MYO7Ap.Gly214ArgVAR_009320
6MYO7Ap.Arg241SerVAR_009322
7MYO7Ap.Ala397AspVAR_009325
8MYO7Ap.Glu450GlnVAR_009326
9MYO7Ap.Pro503LeuVAR_009328
10MYO7Ap.Leu651ProVAR_009331
11MYO7Ap.Ala826ThrVAR_009332
12MYO7Ap.Gly955SerVAR_009334
13MYO7Ap.Leu1087ProVAR_009335
14MYO7Ap.Glu1170LysVAR_009336
15MYO7Ap.Arg1240GlnVAR_009337
16MYO7Ap.Ala1288ProVAR_009338
17MYO7Ap.Arg1343SerVAR_009339
18MYO7Ap.Arg1602GlnVAR_009340rs139889944
19MYO7Ap.Ala1628SerVAR_009341
20MYO7Ap.Gly2137GluVAR_009347
21MYO7Ap.Gly2163SerVAR_009348
22MYO7Ap.Ala26GluVAR_024039
23MYO7Ap.Val67MetVAR_024040
24MYO7Ap.Arg90ProVAR_024041
25MYO7Ap.Ile134AsnVAR_024042
26MYO7Ap.Thr165MetVAR_024043
27MYO7Ap.Arg241CysVAR_024044
28MYO7Ap.Ala457ValVAR_024046
29MYO7Ap.Gly519AspVAR_024047
30MYO7Ap.Arg756TrpVAR_024048
31MYO7Ap.Glu968AspVAR_024049
32MYO7Ap.Arg1743TrpVAR_024051
33MYO7Ap.Leu1858ProVAR_024052
34MYO7Ap.Arg1883GlnVAR_024053
35MYO7Ap.Pro1887LeuVAR_024054
36MYO7Ap.Gly2187AspVAR_024055
37MYO7Ap.His133AspVAR_027301
38MYO7Ap.Gly163ArgVAR_027302
39MYO7Ap.Lys164ArgVAR_027303
40MYO7Ap.Ala198ThrVAR_027304
41MYO7Ap.Thr204AlaVAR_027305
42MYO7Ap.Glu1327LysVAR_027309
43MYO7Ap.Arg1873TrpVAR_027314
44MYO7Ap.Met946ArgVAR_071646
45MYO7Ap.Glu1248LysVAR_071647

Clinvar genetic disease variations for Usher Syndrome, Type 1b:

5 (show all 163)
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
4MYO7ANM_000260.3(MYO7A): c.1797G> A (p.Met599Ile)single nucleotide variantPathogenicrs121965082GRCh37Chr 11, 76877208: 76877208
5MYO7ANM_000260.3(MYO7A): c.93C> A (p.Cys31Ter)single nucleotide variantPathogenicrs35689081GRCh37Chr 11, 76853829: 76853829
6MYO7ANM_000260.3(MYO7A): c.1996C> T (p.Arg666Ter)single nucleotide variantPathogenicrs121965085GRCh37Chr 11, 76885862: 76885862
7CDH23NM_022124.5(CDH23): c.945+1G> Tsingle nucleotide variantPathogenicrs727502919GRCh37Chr 10, 73375374: 73375374
8CDH23NM_022124.5(CDH23): c.7873-2A> Tsingle nucleotide variantPathogenicrs727502933GRCh37Chr 10, 73565561: 73565561
9MYO7ANM_000260.3(MYO7A): c.973_976delATCC (p.Ile325Cysfs)deletionPathogenicrs797044490GRCh37Chr 11, 76869446: 76869449
10MYO7ANM_000260.3(MYO7A): c.977T> A (p.Leu326Gln)single nucleotide variantLikely pathogenicrs797044491GRCh38Chr 11, 77158404: 77158404
11MYO7ANM_000260.3(MYO7A): c.3892G> A (p.Gly1298Arg)single nucleotide variantLikely pathogenicrs727503329GRCh37Chr 11, 76901883: 76901883
12MYO7ANM_000260.3(MYO7A): c.6326C> T (p.Thr2109Ile)single nucleotide variantLikely pathogenicrs377670513GRCh37Chr 11, 76922954: 76922954
13NC_000010.11: g.(?_54317271)_(54664277_?)deldeletionPathogenicGRCh37Chr 10, 56077031: 56424037
14NM_022124.5(CDH23): c.4209+1G> Tsingle nucleotide variantPathogenicrs727503841GRCh37Chr 10, 73494416: 73494416
15MYO7ANM_000260.3(MYO7A): c.470+1G> Asingle nucleotide variantPathogenicrs797044510GRCh37Chr 11, 76867138: 76867138
16MYO7ANM_000260.3(MYO7A): c.73G> A (p.Gly25Arg)single nucleotide variantLikely pathogenicrs782252317GRCh38Chr 11, 77142763: 77142763
17PCDH15NM_033056.3(PCDH15): c.1927C> T (p.Arg643Ter)single nucleotide variantPathogenicrs727504301GRCh37Chr 10, 55849814: 55849814
18MYO7ANM_000260.3(MYO7A): c.77C> A (p.Ala26Glu)single nucleotide variantLikely pathogenicrs369125667GRCh37Chr 11, 76853813: 76853813
19MYO7ANM_000260.3(MYO7A): c.2863G> A (p.Gly955Ser)single nucleotide variantLikely pathogenicrs781988557GRCh37Chr 11, 76892594: 76892594
20MYO7ANM_000260.3(MYO7A)duplicationLikely pathogenicrs111033388GRCh38Chr 11, 77214662: 77214682
21MYO7ANM_000260.3(MYO7A): c.3827C> T (p.Ser1276Leu)single nucleotide variantLikely pathogenicrs369458838GRCh37Chr 11, 76901818: 76901818
22MYO7ANM_000260.3(MYO7A): c.5899C> T (p.Arg1967Ter)single nucleotide variantPathogenicrs376764423GRCh37Chr 11, 76919517: 76919517
23MYO7ANM_000260.3(MYO7A): c.1208A> G (p.Tyr403Cys)single nucleotide variantLikely pathogenicrs797044511GRCh37Chr 11, 76872026: 76872026
24CDH23NM_022124.5(CDH23): c.1369C> T (p.Arg457Trp)single nucleotide variantLikely pathogenicrs727504455GRCh37Chr 10, 73406294: 73406294
25MYO7ANM_000260.3(MYO7A): c.5464A> C (p.Thr1822Pro)single nucleotide variantLikely pathogenicrs727504541GRCh37Chr 11, 76915258: 76915258
26MYO7ANM_000260.3(MYO7A): c.689C> T (p.Ala230Val)single nucleotide variantPathogenicrs797044512GRCh37Chr 11, 76868004: 76868004
27MYO7ANM_000260.3(MYO7A): c.3564_3571delTGCCCGGGinsA (p.Tyr1188Terfs)indelPathogenicrs797044513GRCh37Chr 11, 76900449: 76900456
28CDH23NM_022124.5(CDH23): c.7979_7986delACTGGGAG (p.Asp2660Valfs)deletionPathogenicrs727504761GRCh37Chr 10, 73565669: 73565676
29MYO7ANC_000011.10: g.(?_77212952)_(77214696_?)deldeletionPathogenicGRCh37Chr 11, 76923997: 76925741
30NC_000010.11: g.(?_71731987)_(71734281_?)deldeletionPathogenicGRCh37Chr 10, 73491744: 73494038
31MYO7ANM_000260.3(MYO7A): c.1A> G (p.Met1Val)single nucleotide variantLikely pathogenicrs797044518GRCh37Chr 11, 76841681: 76841681
32MYO7ANM_000260.3(MYO7A): c.6231dupG (p.Lys2078Glufs)duplicationPathogenicrs730880367GRCh37Chr 11, 76922376: 76922376
33MYO7ANM_000260.3(MYO7A): c.287C> T (p.Thr96Met)single nucleotide variantLikely pathogenicrs781811444GRCh37Chr 11, 76866954: 76866954
34PCDH15NM_033056.3(PCDH15): c.3717+1G> Asingle nucleotide variantLikely pathogenicrs748706627GRCh37Chr 10, 55626401: 55626401
35NM_022124.5(CDH23): c.146-2A> Gsingle nucleotide variantPathogenicrs794727649GRCh37Chr 10, 73269837: 73269837
36MYO7ANM_000260.3(MYO7A): c.5968C> T (p.Gln1990Ter)single nucleotide variantPathogenicrs773844428GRCh37Chr 11, 76919765: 76919765
37USH1GNM_173477.4(USH1G): c.143T> C (p.Leu48Pro)single nucleotide variantPathogenicrs104894651GRCh37Chr 17, 72919026: 72919026
38USH1GNM_173477.4(USH1G): c.186_187delCA (p.Ile63Leufs)deletionPathogenicrs730880268GRCh37Chr 17, 72916744: 72916745
39USH1GNM_173477.4(USH1G): c.832_851del20 (p.Ser278Profs)deletionPathogenicrs397515345GRCh37Chr 17, 72916080: 72916099
40USH1GNM_173477.4(USH1G): c.394dupG (p.Val132Glyfs)duplicationPathogenicrs587776546GRCh37Chr 17, 72916537: 72916537
41USH1GNM_173477.4(USH1G): c.113G> A (p.Trp38Ter)single nucleotide variantPathogenicrs104894652GRCh37Chr 17, 72919056: 72919056
42USH1GUSH1G, 15-BP DEL, NT163deletionPathogenic
43USH1CNM_005709.3(USH1C): c.308G> A (p.Arg103His)single nucleotide variantPathogenicrs397514500GRCh37Chr 11, 17552780: 17552780
44USH1CUSH1C, IVS16AS, G-T, -1single nucleotide variantPathogenic
45USH1CUSH1C, 1-BP DEL, 1220GdeletionPathogenic
46CIB2NM_006383.3(CIB2): c.192G> C (p.Glu64Asp)single nucleotide variantPathogenicrs145415848GRCh37Chr 15, 78403513: 78403513
47MYO7ANM_000260.3(MYO7A): c.1097T> C (p.Leu366Pro)single nucleotide variantLikely pathogenicrs397516281GRCh37Chr 11, 76871225: 76871225
48MYO7ANM_000260.3(MYO7A): c.1200+1G> Asingle nucleotide variantPathogenicrs397516283GRCh37Chr 11, 76871329: 76871329
49MYO7ANM_000260.3(MYO7A): c.132+5G> Asingle nucleotide variantLikely pathogenicrs397516284GRCh37Chr 11, 76853873: 76853873
50MYO7ANM_000260.3(MYO7A): c.1344-2A> Gsingle nucleotide variantPathogenicrs111033415GRCh37Chr 11, 76873164: 76873164
51MYO7ANM_000260.3(MYO7A): c.1370C> T (p.Ala457Val)single nucleotide variantLikely pathogenicrs111033286GRCh37Chr 11, 76873192: 76873192
52MYO7ANM_000260.3(MYO7A): c.1401_1403dupGCA (p.Arg467_His468insGln)duplicationLikely pathogenicrs111033219GRCh37Chr 11, 76873223: 76873225
53MYO7ANM_000260.3(MYO7A): c.141G> A (p.Trp47Ter)single nucleotide variantPathogenicrs397516285GRCh37Chr 11, 76858852: 76858852
54MYO7ANM_000260.3(MYO7A): c.1556G> A (p.Gly519Asp)single nucleotide variantPathogenicrs111033206GRCh37Chr 11, 76873900: 76873900
55MYO7ANM_000260.3(MYO7A): c.1556delG (p.Gly519Alafs)deletionPathogenicrs606231379GRCh37Chr 11, 76873900: 76873900
56MYO7ANM_000260.3(MYO7A): c.1690+1G> Asingle nucleotide variantLikely pathogenicrs111033389GRCh37Chr 11, 76874035: 76874035
57MYO7ANM_000260.3(MYO7A): c.1833_1838dupCAGCCA (p.Ser612_Gln613insHisSer)duplicationLikely pathogenicrs397516290GRCh37Chr 11, 76883829: 76883834
58MYO7ANM_000260.3(MYO7A): c.19-1G> Asingle nucleotide variantLikely pathogenicrs111033426GRCh37Chr 11, 76853754: 76853754
59MYO7ANM_000260.3(MYO7A): c.1900C> T (p.Arg634Ter)single nucleotide variantPathogenicrs111033180GRCh37Chr 11, 76883896: 76883896
60MYO7ANM_000260.3(MYO7A): c.1952_1953insAG (p.Cys652Glyfs)insertionLikely pathogenicrs111033510GRCh37Chr 11, 76885818: 76885819
61MYO7ANM_000260.3(MYO7A): c.1963C> T (p.Gln655Ter)single nucleotide variantPathogenicrs397516291GRCh37Chr 11, 76885829: 76885829
62MYO7ANM_000260.3(MYO7A): c.2005C> T (p.Arg669Ter)single nucleotide variantPathogenicrs111033201GRCh37Chr 11, 76885871: 76885871
63MYO7ANM_000260.3(MYO7A): c.2094+1G> Asingle nucleotide variantPathogenicrs111033404GRCh37Chr 11, 76885961: 76885961
64MYO7ANM_000260.3(MYO7A): c.2094+1G> Csingle nucleotide variantLikely pathogenicrs111033404GRCh37Chr 11, 76885961: 76885961
65MYO7ANM_000260.3(MYO7A): c.2172delC (p.Lys725Argfs)deletionPathogenicrs397516294GRCh37Chr 11, 76886495: 76886495
66MYO7ANM_000260.3(MYO7A): c.2187+1G> Asingle nucleotide variantLikely pathogenicrs111033290GRCh37Chr 11, 76886511: 76886511
67MYO7ANM_000260.3(MYO7A): c.2283-1G> Tsingle nucleotide variantPathogenicrs397516295GRCh37Chr 11, 76890090: 76890090
68MYO7ANM_000260.3(MYO7A): c.2904G> T (p.Glu968Asp)single nucleotide variantPathogenicrs111033233GRCh37Chr 11, 76892635: 76892635
69MYO7ANM_000260.3(MYO7A): c.3327delC (p.His1109Glnfs)deletionPathogenicrs111033433GRCh37Chr 11, 76894154: 76894154
70MYO7ANM_000260.3(MYO7A): c.3508G> A (p.Glu1170Lys)single nucleotide variantPathogenicrs111033214GRCh37Chr 11, 76900393: 76900393
71MYO7ANM_000260.3(MYO7A): c.3532delC (p.Gln1178Serfs)deletionLikely pathogenicrs111033239GRCh37Chr 11, 76900417: 76900417
72MYO7ANM_000260.3(MYO7A): c.3533A> C (p.Gln1178Pro)single nucleotide variantLikely pathogenicrs111033482GRCh37Chr 11, 76900418: 76900418
73MYO7ANM_000260.3(MYO7A): c.3543_3544dupCA (p.Asn1182Thrfs)duplicationLikely pathogenicrs111033390GRCh37Chr 11, 76900428: 76900429
74MYO7ANM_000260.3(MYO7A): c.3572G> A (p.Gly1191Asp)single nucleotide variantLikely pathogenicrs397516301GRCh37Chr 11, 76900457: 76900457
75MYO7ANM_000260.3(MYO7A): c.3696_3706delAAGGACCTTTG (p.Arg1232Serfs)deletionPathogenicrs397516303GRCh37Chr 11, 76901130: 76901140
76MYO7ANM_000260.3(MYO7A): c.3719G> A (p.Arg1240Gln)single nucleotide variantPathogenicrs111033178GRCh37Chr 11, 76901153: 76901153
77MYO7ANM_000260.3(MYO7A): c.3728dupC (p.Pro1244Alafs)duplicationPathogenicrs397516304GRCh37Chr 11, 76901162: 76901162
78MYO7ANM_000260.3(MYO7A): c.3764delA (p.Lys1255Argfs)deletionPathogenicrs111033347GRCh37Chr 11, 76901755: 76901755
79MYO7ANM_000260.3(MYO7A): c.397C> T (p.His133Tyr)single nucleotide variantLikely pathogenicrs111033403GRCh37Chr 11, 76867064: 76867064
80MYO7ANM_000260.3(MYO7A): c.397dupC (p.His133Profs)duplicationLikely pathogenicrs111033187GRCh37Chr 11, 76867064: 76867064
81MYO7ANM_000260.3(MYO7A): c.401T> A (p.Ile134Asn)single nucleotide variantLikely pathogenicrs111033181GRCh37Chr 11, 76867068: 76867068
82MYO7ANM_000260.3(MYO7A): c.4065delC (p.His1355Glnfs)deletionLikely pathogenicrs111033202GRCh37Chr 11, 76903236: 76903236
83MYO7ANM_000260.3(MYO7A): c.4293G> A (p.Trp1431Ter)single nucleotide variantPathogenicrs397516308GRCh37Chr 11, 76905539: 76905539
84MYO7ANM_000260.3(MYO7A): c.4411T> C (p.Ser1471Pro)single nucleotide variantLikely pathogenicrs397516310GRCh37Chr 11, 76908613: 76908613
85MYO7ANM_000260.3(MYO7A): c.4442-2A> Csingle nucleotide variantLikely pathogenicrs111033337GRCh37Chr 11, 76909538: 76909538
86MYO7ANM_000260.3(MYO7A): c.4544_4551delAGATCATGinsCA (p.Glu1515_Met1517delinsAla)indelPathogenicrs111033259GRCh37Chr 11, 76909642: 76909649
87MYO7ANM_000260.3(MYO7A): c.458G> A (p.Cys153Tyr)single nucleotide variantLikely pathogenicrs397516312GRCh37Chr 11, 76867125: 76867125
88MYO7ANM_000260.3(MYO7A): c.4821T> A (p.Tyr1607Ter)single nucleotide variantPathogenicrs397516315GRCh37Chr 11, 76910832: 76910832
89MYO7ANM_000260.3(MYO7A): c.494C> T (p.Thr165Met)single nucleotide variantPathogenicrs111033174GRCh37Chr 11, 76867729: 76867729
90MYO7ANM_000260.3(MYO7A): c.496delG (p.Glu166Argfs)deletionPathogenicrs111033448GRCh37Chr 11, 76867731: 76867731
91MYO7ANM_000260.3(MYO7A): c.5101C> T (p.Arg1701Ter)single nucleotide variantPathogenicrs111033182GRCh37Chr 11, 76913402: 76913402
92MYO7ANM_000260.3(MYO7A): c.5208dupC (p.Lys1737Glnfs)duplicationLikely pathogenicrs111033276GRCh37Chr 11, 76914144: 76914144
93MYO7ANM_000260.3(MYO7A): c.5327-11A> Gsingle nucleotide variantLikely pathogenicrs397516316GRCh37Chr 11, 76915110: 76915110
94MYO7ANM_000260.3(MYO7A): c.5392C> T (p.Gln1798Ter)single nucleotide variantPathogenicrs397516317GRCh37Chr 11, 76915186: 76915186
95MYO7ANM_000260.3(MYO7A): c.5573T> C (p.Leu1858Pro)single nucleotide variantPathogenicrs368657015GRCh37Chr 11, 76916599: 76916599
96MYO7ANM_000260.3(MYO7A): c.5581dupC (p.Arg1861Profs)duplicationPathogenicrs397516320GRCh37Chr 11, 76916607: 76916607
97MYO7ANM_000260.3(MYO7A): c.5617C> T (p.Arg1873Trp)single nucleotide variantPathogenicrs397516321GRCh37Chr 11, 76916643: 76916643
98MYO7ANM_000260.3(MYO7A): c.5618G> A (p.Arg1873Gln)single nucleotide variantLikely pathogenicrs397516322GRCh37Chr 11, 76916644: 76916644
99MYO7ANM_000260.3(MYO7A): c.5648G> A (p.Arg1883Gln)single nucleotide variantLikely pathogenicrs111033215GRCh37Chr 11, 76917153: 76917153
100MYO7ANM_000260.3(MYO7A): c.5660C> T (p.Pro1887Leu)single nucleotide variantPathogenicrs199606180GRCh37Chr 11, 76917165: 76917165
101MYO7ANM_000260.3(MYO7A): c.5804T> C (p.Leu1935Pro)single nucleotide variantLikely pathogenicrs397516323GRCh37Chr 11, 76918395: 76918395
102MYO7ANM_000260.3(MYO7A): c.5824G> T (p.Gly1942Ter)single nucleotide variantPathogenicrs111033192GRCh37Chr 11, 76918415: 76918415
103MYO7ANM_000260.3(MYO7A): c.582delC (p.Ile195Phefs)deletionPathogenicrs111033238GRCh37Chr 11, 76867817: 76867817
104MYO7ANM_000260.3(MYO7A): c.587T> C (p.Leu196Pro)single nucleotide variantLikely pathogenicrs397516324GRCh37Chr 11, 76867822: 76867822
105MYO7ANM_000260.3(MYO7A): c.5886_5888delCTT (p.Phe1963del)deletionPathogenicrs111033232GRCh37Chr 11, 76919504: 76919506
106MYO7ANM_000260.3(MYO7A): c.5945G> A (p.Gly1982Glu)single nucleotide variantLikely pathogenicrs111033250GRCh37Chr 11, 76919742: 76919742
107MYO7ANM_000260.3(MYO7A): c.6025delG (p.Ala2009Profs)deletionPathogenicrs397516326GRCh37Chr 11, 76919822: 76919822
108MYO7ANM_000260.3(MYO7A): c.6029A> G (p.Asp2010Gly)single nucleotide variantPathogenicrs111033175GRCh37Chr 11, 76919826: 76919826
109MYO7ANM_000260.3(MYO7A): c.6070C> T (p.Arg2024Ter)single nucleotide variantPathogenicrs111033198GRCh37Chr 11, 76922215: 76922215
110MYO7ANM_000260.3(MYO7A): c.631A> G (p.Ser211Gly)single nucleotide variantLikely pathogenicrs111033486GRCh37Chr 11, 76867946: 76867946
111MYO7ANM_000260.3(MYO7A): c.640G> A (p.Gly214Arg)single nucleotide variantPathogenicrs111033283GRCh37Chr 11, 76867955: 76867955
112MYO7ANM_000260.3(MYO7A): c.6439-2A> Gsingle nucleotide variantPathogenicrs397516330GRCh37Chr 11, 76924903: 76924903
113MYO7ANM_000260.3(MYO7A): c.6498C> A (p.Tyr2166Ter)single nucleotide variantPathogenicrs397516331GRCh37Chr 11, 76924964: 76924964
114MYO7ANM_000260.3(MYO7A): c.6560G> A (p.Gly2187Asp)single nucleotide variantLikely pathogenicrs397516332GRCh37Chr 11, 76925653: 76925653
115MYO7ANM_000260.3(MYO7A): c.722G> A (p.Arg241His)single nucleotide variantLikely pathogenicrs111033284GRCh37Chr 11, 76868037: 76868037
116MYO7ANM_000260.3(MYO7A): c.999T> G (p.Tyr333Ter)single nucleotide variantPathogenicrs111033285GRCh37Chr 11, 76869472: 76869472
117CDH23NM_022124.5(CDH23): c.1246_1266del21 (p.Ala416_Glu422del)deletionLikely pathogenicrs397517305GRCh37Chr 10, 73405693: 73405713
118CDH23NM_022124.5(CDH23): c.2012delT (p.Phe671Serfs)deletionPathogenicrs397517313GRCh37Chr 10, 73447429: 73447429
119NM_022124.5(CDH23): c.3481C> T (p.Arg1161Ter)single nucleotide variantPathogenicrs397517323GRCh37Chr 10, 73485179: 73485179
120NM_022124.5(CDH23): c.3628C> T (p.Gln1210Ter)single nucleotide variantPathogenicrs397517326GRCh37Chr 10, 73490274: 73490274
121NM_022124.5(CDH23): c.3706C> T (p.Arg1236Ter)single nucleotide variantPathogenicrs397517327GRCh37Chr 10, 73490352: 73490352
122CDH23NM_022124.5(CDH23): c.4309C> T (p.Arg1437Ter)single nucleotide variantPathogenicrs397517329GRCh37Chr 10, 73498354: 73498354
123CDH23NM_022124.5(CDH23): c.46delG (p.Val16Cysfs)deletionPathogenicrs397517331GRCh37Chr 10, 73199634: 73199634
124CDH23NM_022124.5(CDH23): c.5272C> T (p.Gln1758Ter)single nucleotide variantPathogenicrs397517337GRCh37Chr 10, 73539108: 73539108
125CDH23NM_022124.5(CDH23): c.5712+1G> Asingle nucleotide variantPathogenicrs397517341GRCh37Chr 10, 73544858: 73544858
126CDH23NM_022124.5(CDH23): c.5712G> A (p.Thr1904=)single nucleotide variantPathogenicrs397517342GRCh37Chr 10, 73544857: 73544857
127CDH23NM_022124.5(CDH23): c.5923+1G> Asingle nucleotide variantPathogenicrs397517346GRCh37Chr 10, 73548800: 73548800
128CDH23NM_022124.5(CDH23): c.6049+1G> Asingle nucleotide variantPathogenicrs111033247GRCh37Chr 10, 73550171: 73550171
129CDH23NM_022124.5(CDH23): c.6049G> A (p.Gly2017Ser)single nucleotide variantLikely pathogenicrs183431253GRCh37Chr 10, 73550170: 73550170
130CDH23NM_022124.5(CDH23): c.6050-9G> Asingle nucleotide variantPathogenicrs367928692GRCh37Chr 10, 73550880: 73550880
131CDH23NM_022124.5(CDH23): c.6412delG (p.Glu2138Serfs)deletionLikely pathogenicrs111033473GRCh37Chr 10, 73553097: 73553097
132CDH23NM_022124.5(CDH23): c.6968delC (p.Pro2323Leufs)deletionPathogenicrs397517350GRCh37Chr 10, 73558249: 73558249
133CDH23NM_022124.5(CDH23): c.7362G> A (p.Thr2454=)single nucleotide variantLikely pathogenicrs370983472GRCh37Chr 10, 73559386: 73559386
134CDH23NM_022124.5(CDH23): c.7776G> A (p.Trp2592Ter)single nucleotide variantPathogenicrs397517353GRCh37Chr 10, 73563081: 73563081
135CDH23NM_022124.5(CDH23): c.7823G> A (p.Arg2608His)single nucleotide variantLikely pathogenicrs202052174GRCh37Chr 10, 73563128: 73563128
136CDH23NM_022124.5(CDH23): c.7921G> C (p.Asp2641His)single nucleotide variantLikely pathogenicrs397517354GRCh37Chr 10, 73565611: 73565611
137CDH23NM_022124.5(CDH23): c.8781C> A (p.Tyr2927Ter)single nucleotide variantPathogenicrs397517362GRCh37Chr 10, 73569635: 73569635
138CDH23NM_022124.5(CDH23): c.9629_9632delTCAA (p.Ile3210Argfs)deletionPathogenicrs397517367GRCh37Chr 10, 73572643: 73572646
139PCDH15NM_033056.3(PCDH15): c.16delT (p.Tyr6Ilefs)deletionPathogenicrs397517451GRCh37Chr 10, 56424007: 56424007
140PCDH15NM_033056.3(PCDH15): c.1998-2A> Gsingle nucleotide variantPathogenicrs397517452GRCh37Chr 10, 55839186: 55839186
141PCDH15NM_033056.3(PCDH15): c.3316C> T (p.Arg1106Ter)single nucleotide variantLikely pathogenic, Pathogenicrs202033121GRCh37Chr 10, 55698632: 55698632
142USH1GNM_173477.4(USH1G): c.1373A> T (p.Asp458Val)single nucleotide variantLikely pathogenicrs397517925GRCh37Chr 17, 72915558: 72915558
143CDH23NM_022124.5(CDH23): c.4488G> C (p.Gln1496His)single nucleotide variantPathogenicrs121908347GRCh37Chr 10, 73499529: 73499529
144CDH23NM_022124.5(CDH23): c.5237G> A (p.Arg1746Gln)single nucleotide variantPathogenicrs111033270GRCh37Chr 10, 73539073: 73539073
145NM_022124.5(CDH23): c.3842_3844delTGA (p.Met1281del)deletionPathogenicrs796051860GRCh37Chr 10, 73491870: 73491872
146CDH23NM_022124.5(CDH23): c.7362+5G> Asingle nucleotide variantPathogenicrs727502931GRCh37Chr 10, 73559391: 73559391
147NM_022124.5(CDH23): c.3880C> T (p.Gln1294Ter)single nucleotide variantPathogenicrs121908350GRCh37Chr 10, 73491908: 73491908
148CDH23NM_022124.5(CDH23): c.6442G> A (p.Asp2148Asn)single nucleotide variantPathogenicrs111033271GRCh37Chr 10, 73553127: 73553127
149NM_022124.5(CDH23): c.193delC (p.Leu65Trpfs)deletionPathogenicrs796051861GRCh38Chr 10, 71510129: 71510129
150PCDH15PCDH15, IVS27, A-G, -2single nucleotide variantPathogenic
151PCDH15NM_033056.3(PCDH15): c.7C> T (p.Arg3Ter)single nucleotide variantLikely pathogenic, Pathogenicrs137853001GRCh37Chr 10, 56424016: 56424016
152PCDH15NM_033056.3(PCDH15): c.1086delT (p.Leu363Trpfs)deletionPathogenicrs199469706GRCh37Chr 10, 55973708: 55973708
153PCDH15NM_033056.3(PCDH15): c.733C> T (p.Arg245Ter)single nucleotide variantPathogenicrs111033260GRCh37Chr 10, 56077174: 56077174
154PCDH15PCDH15, 3-BP DEL, 5601AACdeletionPathogenic
155PCDH15NM_033056.3(PCDH15): c.1940C> G (p.Ser647Ter)single nucleotide variantPathogenicrs137853004GRCh37Chr 10, 55849801: 55849801
156USH1CUSH1C, IVS5AS, A DEL, -2deletionPathogenic
157USH1CNM_005709.3(USH1C): c.238dupC (p.Arg80Profs)duplicationPathogenicrs397515359GRCh37Chr 11, 17552956: 17552956
158USH1CNM_005709.3(USH1C): c.496+59_496+103[9]NT expansionPathogenicrs387906330GRCh37Chr 11, 17548667: 17548711
159USH1CNM_005709.3(USH1C): c.216G> A (p.Val72=)single nucleotide variantPathogenicrs151045328GRCh37Chr 11, 17552978: 17552978
160USH1CUSH1C, IVS1DS, G-T, +1single nucleotide variantPathogenic
161USH1CUSH1C, IVS5DS, G-A, +1single nucleotide variantPathogenic
162USH1CNM_005709.3(USH1C): c.91C> T (p.Arg31Ter)single nucleotide variantPathogenicrs121908370GRCh37Chr 11, 17554815: 17554815
163PCDH15NM_033056.3(PCDH15): c.394dupG (p.Glu132Glyfs)duplicationPathogenicrs397515566GRCh37Chr 10, 56128960: 56128960

Expression for genes affiliated with Usher Syndrome, Type 1b

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Search GEO for disease gene expression data for Usher Syndrome, Type 1b.

Pathways for genes affiliated with Usher Syndrome, Type 1b

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GO Terms for genes affiliated with Usher Syndrome, Type 1b

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Cellular components related to Usher Syndrome, Type 1b according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1photoreceptor connecting ciliumGO:00323919.7MYO7A, USH1G
2photoreceptor outer segmentGO:00017509.2CIB2, MYO7A, PCDH15, USH1C
3synapseGO:00452029.2MYO7A, PCDH15, USH1C
4photoreceptor inner segmentGO:00019179.0CIB2, MYO7A, USH1C, USH1G
5stereociliumGO:00324208.4CDH23, CIB2, MYO7A, PCDH15, USH1C

Biological processes related to Usher Syndrome, Type 1b according to GeneCards Suite gene sharing:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1auditory receptor cell stereocilium organizationGO:006008810.2MYO7A, PCDH15
2inner ear receptor cell differentiationGO:00601139.8MYO7A, USH1G
3inner ear developmentGO:00488399.6MYO7A, PCDH15
4auditory receptor cell differentiationGO:00424919.4MYO7A, PCDH15, USH1C
5visual perceptionGO:00076019.2CDH23, MYO7A, PCDH15
6inner ear morphogenesisGO:00424728.8MYO7A, USH1C, USH1G
7inner ear receptor stereocilium organizationGO:00601228.8MYO7A, PCDH15, USH1C, USH1G
8equilibrioceptionGO:00509578.6CDH23, MYO7A, PCDH15, USH1C, USH1G
9photoreceptor cell maintenanceGO:00454948.4CDH23, CIB2, PCDH15, USH1C, USH1G
10sensory perception of light stimulusGO:00509538.4CDH23, MYO7A, PCDH15, USH1C, USH1G
11sensory perception of soundGO:00076058.0CDH23, MYO7A, PCDH15, USH1C, USH1G

Molecular functions related to Usher Syndrome, Type 1b according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1protein N-terminus bindingGO:00474859.7MYO7A, PCDH15
2spectrin bindingGO:00305079.4MYO7A, USH1C, USH1G
3protein complex bindingGO:00324039.3CIB2, MYO7A, PCDH15

Sources for Usher Syndrome, Type 1b

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet