USH1B
MCID: USH006
MIFTS: 53

Usher Syndrome, Type 1b (USH1B) malady

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

Aliases & Classifications for Usher Syndrome, Type 1b

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Aliases & Descriptions for Usher Syndrome, Type 1b:

Name: Usher Syndrome, Type 1b 52 48 12
Ush1 11 23 48 24 54
Usher Syndrome Type 1 11 24 54 13
Usher Syndrome, Type 1e 48 27 12
Usher Syndrome Type 1e 11 24 13
Ush1e 11 48 24
Usher's Syndrome Type 1b 70 27
Usher Syndrome Type I 23 24
Ush1b 24 70
Us1 11 48
Retinitis Pigmentosa and Congenital Deafness 48
Usher Syndrome, Type I, French Variety 48
Usher Syndrome, Type 1a 48
 
Usher Syndrome, Type Ib 68
Usher Syndrome, Type Ie 68
Usher Syndrome Type Ie 11
Usher Syndrome, Type I 68
Usher Syndrome, Type 1 48
Usher Syndrome Type 1b 24
Usher Syndrome Type Ib 70
Usher Syndrome 1b 70
Ush 1b 24
Ushib 70
Ush 1 24
Ush1a 48

Characteristics:

Orphanet epidemiological data:

54
ush1:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal

HPO:

64
usher syndrome, type 1b:
Inheritance: autosomal recessive inheritance, heterogeneous
Inheritance: autosomal recessive inheritance

GeneReviews:

23
Penetrance: penetrance is complete in usher syndrome type i...


Classifications:



External Ids:

OMIM52 276900
Disease Ontology11 DOID:0110826, DOID:0110833
ICD1030 H35.5
Orphanet54 ORPHA231169
UMLS via Orphanet69 C0339533
ICD10 via Orphanet31 H35.5
MeSH39 D052245

Summaries for Usher Syndrome, Type 1b

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OMIM:52 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 ush1, is related to usher syndrome, type 1f and usher syndrome, type 1d, and has symptoms including unspecified visual loss, unspecified visual loss and Array. An important gene associated with Usher Syndrome, Type 1b is MYO7A (Myosin VIIA). Affiliated tissues include retina, eye and cerebellum, and related mouse phenotypes are hearing/vestibular/ear and behavior/neurological.

Disease Ontology:11 An Usher syndrome characterized by profound congenital deafness, vestibular dysfunction and early development of retinitis pigmentosa.

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

UniProtKB/Swiss-Prot:70 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 for NBK1265

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 2 Usher Syndrome Type 1h
Usher Syndrome, Type 2b

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

(show all 41)
idRelated DiseaseScoreTop Affiliating Genes
1usher syndrome, type 1f31.7ADGRV1, CDH23, MYO7A, PCDH15, USH1C, USH1G
2usher syndrome, type 1d11.1
3usher syndrome, type 1c11.1
4usher syndrome, type ij11.1
5usher syndrome, type 1g11.1
6usher syndrome, type 2a10.9
7usher syndrome, type 3a10.9
8usher syndrome, type 2c10.9
9usher syndrome type 3b10.9
10usher syndrome, type 2d10.9
11usher syndrome, type ik10.9
12usher syndrome type 1h10.9
13usher syndrome10.4
14corneal dystrophy, fuchs endothelial, 610.3PCDH15, USH1K
15charcot-marie-tooth disease, type 1d10.3CDH23, MYO7A, PCDH15
16cardiomyopathy, dilated, 1kk10.3MYO7A, PCDH15, USH1C, USH1G
17deafness, autosomal recessive 2310.3CDH23, MYO7A, PCDH15, USH1C
18sjogren-larsson syndrome10.3CDH23, MYO7A
1946xy partial gonadal dysgenesis, with minifascicular neuropathy10.3CIB2, MYO7A
20rhizomelic chondrodysplasia punctata type 510.2ADGRV1, CLRN1, MYO7A
21fanconi anemia, complementation group f10.2CDH23, MYO7A, USH1C, USH1G
22narcissistic personality disorder10.2CDH23, MYO7A, PCDH15, USH1C
23pnpla6-related disorders10.2CLRN1, USH2A
24pierre robin syndrome10.2CDH23, MYO7A, PCDH15, USH1C, USH1G
25robinow syndrome, autosomal dominant 110.2ADGRV1, GSK3B, MYO7A, USH2A
26obesity susceptibility, adrb3-related10.2CDH23, MYO7A, USH1C, USH2A
27retinitis pigmentosa 3910.2GSK3B, USH1C, USH2A, WHRN
28adult liposarcoma10.2MYO7A, PCDH15, USH2A
29trichomoniasis10.1CDH23, MYO7A, PCDH15, USH1C, USH2A
30manitoba oculotrichoanal syndrome10.1CDH23, MYO7A
31mitochondrial non-syndromic sensorineural deafness10.1CDH23, CIB2, MYO7A, PCDH15, USH1C, WHRN
32x-linked nonsyndromic deafness10.1CDH23, CIB2, MYO7A, PCDH15, USH2A, WHRN
33dyskeratosis congenita, autosomal dominant 110.0ADGRV1, CDH23, CLRN1, MYO7A, PCDH15, USH1C
3446xy sex reversal 310.0ADGRV1, CDH23, MYO7A, PCDH15, USH1C, USH1G
35peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads9.9ADGRV1, CDH23, CLRN1, MYO7A, PCDH15, USH1C
36retinitis9.9
37lissencephaly9.9ADGRV1, CDH23, CIB2, CLRN1, MYO7A, PCDH15
38herpes simplex9.9
39xeroderma pigmentosum group e9.8ADGRV1, CDH23, CIB2, CLRN1, GSK3B, MYO7A
40sertoli cell-only syndrome9.8ADGRV1, CDH23, CIB2, CLRN1, IMPDH1, MYO7A
41deafness, autosomal dominant 119.1ADGRV1, ASB10, ASZ1, CDH23, CIB2, CLRN1

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



Diseases related to usher syndrome, type 1b

Symptoms & Phenotypes for Usher Syndrome, Type 1b

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Symptoms by clinical synopsis from OMIM:

276900

Clinical features from OMIM:

276900

Human phenotypes related to Usher Syndrome, Type 1b:

 54 64 (show all 30)
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 abnormal electroretinogram64 54 Very frequent (99-80%) HP:0000512
4 cataract64 54 Frequent (79-30%) HP:0000518
5 visual loss64 54 Very frequent (99-80%) HP:0000572
6 scotoma64 54 Very frequent (99-80%) HP:0000575
7 night blindness54 Very frequent (99-80%)
8 abnormality of dental enamel64 54 Occasional (29-5%) HP:0000682
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 intellectual disability64 54 Very frequent (99-80%) HP:0001249
13 ataxia64 54 Very frequent (99-80%) HP:0001251
14 global developmental delay64 54 Very frequent (99-80%) HP:0001263
15 vestibular hypofunction64 54 Very frequent (99-80%) HP:0001756
16 cerebral cortical atrophy64 54 Occasional (29-5%) HP:0002120
17 aplasia/hypoplasia of the cerebellum64 54 Frequent (79-30%) HP:0007360
18 iris hypopigmentation64 54 Very frequent (99-80%) HP:0007730
19 high-grade hypermetropia64 54 Frequent (79-30%) HP:0008499
20 subcortical cerebral atrophy64 54 Occasional (29-5%) HP:0012157
21 hemianopsia54 Very frequent (99-80%)
22 schizophrenia64 54 Frequent (79-30%) HP:0100753
23 rod-cone dystrophy64 HP:0000510
24 undetectable electroretinogram64 HP:0000550
25 motor delay64 HP:0001270
26 absent vestibular function64 HP:0008555
27 congenital sensorineural hearing impairment64 HP:0008527
28 vestibular areflexia64 HP:0008568
29 nyctalopia64 HP:0000662
30 hemianopia64 HP:0012377

UMLS symptoms related to Usher Syndrome, Type 1b:


unspecified visual loss

MGI Mouse Phenotypes related to Usher Syndrome, Type 1b according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.6ADGRV1, CDH23, CIB2, CLRN1, MYO7A, PCDH15
2MP:00053869.1ADGRV1, CDH23, CIB2, CLRN1, CXADR, GSK3B
3MP:00036319.1ADGRV1, CDH23, CIB2, CLRN1, GSK3B, MYO7A
4MP:00053918.8ADGRV1, CDH23, CLRN1, MYO7A, PCDH15, USH1C

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 PigmentosaActive, not recruitingNCT01530659Phase 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 127
2 Usher Syndrome, Type 1b27
3 Usher Syndrome, Type 1e27
4 Usher Syndrome Type I24 USH1H
5 Usher Syndrome Type 1b24 MYO7A
6 Usher Syndrome Type 1e24

Anatomical Context for Usher Syndrome, Type 1b

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

36
Retina, Eye, Cerebellum

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
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
4
Lentiviral gene replacement therapy of retinas in a mouse model for Usher syndrome type 1B. (17268537)
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
Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type 1B. (7568224)
1995
11
Defective myosin VIIA gene responsible for Usher syndrome type 1B. (7870171)
1995

Variations for Usher Syndrome, Type 1b

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

70 (show all 46)
id Symbol AA change Variation ID SNP ID
1MYO7Ap.Leu16SerVAR_009315rs1052030
2MYO7Ap.Gly25ArgVAR_009316rs782252317
3MYO7Ap.Arg212CysVAR_009318rs121965080
4MYO7Ap.Arg212HisVAR_009319rs28934610
5MYO7Ap.Gly214ArgVAR_009320rs111033283
6MYO7Ap.Arg241SerVAR_009322
7MYO7Ap.Ala397AspVAR_009325
8MYO7Ap.Glu450GlnVAR_009326
9MYO7Ap.Pro503LeuVAR_009328
10MYO7Ap.Leu651ProVAR_009331
11MYO7Ap.Ala826ThrVAR_009332rs368341987
12MYO7Ap.Gly955SerVAR_009334rs781988557
13MYO7Ap.Leu1087ProVAR_009335rs375050157
14MYO7Ap.Glu1170LysVAR_009336rs111033214
15MYO7Ap.Arg1240GlnVAR_009337rs111033178
16MYO7Ap.Ala1288ProVAR_009338rs749747871
17MYO7Ap.Arg1343SerVAR_009339rs763469001
18MYO7Ap.Arg1602GlnVAR_009340rs139889944
19MYO7Ap.Ala1628SerVAR_009341
20MYO7Ap.Gly2137GluVAR_009347
21MYO7Ap.Gly2163SerVAR_009348rs747656448
22MYO7Ap.Ala26GluVAR_024039
23MYO7Ap.Val67MetVAR_024040
24MYO7Ap.Arg90ProVAR_024041
25MYO7Ap.Ile134AsnVAR_024042rs111033181
26MYO7Ap.Thr165MetVAR_024043rs111033174
27MYO7Ap.Arg241CysVAR_024044rs782166819
28MYO7Ap.Ala457ValVAR_024046rs111033286
29MYO7Ap.Gly519AspVAR_024047rs111033206
30MYO7Ap.Arg756TrpVAR_024048rs782174733
31MYO7Ap.Glu968AspVAR_024049rs111033233
32MYO7Ap.Arg1743TrpVAR_024051rs111033287
33MYO7Ap.Leu1858ProVAR_024052rs368657015
34MYO7Ap.Arg1883GlnVAR_024053rs111033215
35MYO7Ap.Pro1887LeuVAR_024054rs199606180
36MYO7Ap.Gly2187AspVAR_024055rs397516332
37MYO7Ap.His133AspVAR_027301
38MYO7Ap.Gly163ArgVAR_027302
39MYO7Ap.Lys164ArgVAR_027303
40MYO7Ap.Ala198ThrVAR_027304
41MYO7Ap.Thr204AlaVAR_027305
42MYO7Ap.Glu1327LysVAR_027309rs373169422
43MYO7Ap.Arg1873TrpVAR_027314rs397516321
44MYO7Ap.Met946ArgVAR_071646
45MYO7Ap.Glu1248LysVAR_071647
46MYO7Ap.Glu1812LysVAR_074074rs377267777

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

5 (show all 125)
id Gene Variation Type Significance SNP ID Assembly Location
1MYO7ANM_ 000260.3(MYO7A): c.448C> T (p.Arg150Ter)SNVPathogenicrs121965079GRCh37Chr 11, 76867115: 76867115
2MYO7ANM_ 000260.3(MYO7A): c.700C> T (p.Gln234Ter)SNVPathogenicrs41298133GRCh37Chr 11, 76868015: 76868015
3MYO7ANM_ 000260.3(MYO7A): c.635G> A (p.Arg212His)SNVPathogenicrs28934610GRCh37Chr 11, 76867950: 76867950
4MYO7ANM_ 000260.3(MYO7A): c.93C> A (p.Cys31Ter)SNVPathogenicrs35689081GRCh37Chr 11, 76853829: 76853829
5MYO7ANM_ 000260.3(MYO7A): c.1996C> T (p.Arg666Ter)SNVPathogenicrs121965085GRCh37Chr 11, 76885862: 76885862
6MYO7ANM_ 000260.3(MYO7A): c.973_ 976delATCC (p.Ile325Cysfs)deletionPathogenicrs797044490GRCh37Chr 11, 76869446: 76869449
7MYO7ANM_ 000260.3(MYO7A): c.977T> A (p.Leu326Gln)SNVLikely pathogenicrs797044491GRCh38Chr 11, 77158404: 77158404
8MYO7ANM_ 000260.3(MYO7A): c.3892G> A (p.Gly1298Arg)SNVLikely pathogenicrs727503329GRCh38Chr 11, 77190838: 77190838
9MYO7ANM_ 000260.3(MYO7A): c.6326C> T (p.Thr2109Ile)SNVLikely pathogenicrs377670513GRCh38Chr 11, 77211909: 77211909
10MYO7ANM_ 000260.3(MYO7A): c.470+1G> ASNVPathogenicrs797044510GRCh37Chr 11, 76867138: 76867138
11MYO7ANM_ 000260.3(MYO7A): c.73G> A (p.Gly25Arg)SNVLikely pathogenicrs782252317GRCh37Chr 11, 76853809: 76853809
12MYO7ANM_ 000260.3(MYO7A): c.77C> A (p.Ala26Glu)SNVLikely pathogenicrs369125667GRCh37Chr 11, 76853813: 76853813
13MYO7ANM_ 000260.3(MYO7A): c.2863G> A (p.Gly955Ser)SNVLikely pathogenicrs781988557GRCh37Chr 11, 76892594: 76892594
14MYO7ANM_ 000260.3(MYO7A): c.3827C> T (p.Ser1276Leu)SNVLikely pathogenicrs369458838GRCh38Chr 11, 77190773: 77190773
15MYO7ANM_ 000260.3(MYO7A): c.5899C> T (p.Arg1967Ter)SNVPathogenic/ Likely pathogenicrs376764423GRCh37Chr 11, 76919517: 76919517
16MYO7ANM_ 000260.3(MYO7A): c.1208A> G (p.Tyr403Cys)SNVLikely pathogenicrs797044511GRCh37Chr 11, 76872026: 76872026
17MYO7ANM_ 000260.3(MYO7A): c.5464A> C (p.Thr1822Pro)SNVLikely pathogenicrs727504541GRCh37Chr 11, 76915258: 76915258
18MYO7ANM_ 000260.3(MYO7A): c.689C> T (p.Ala230Val)SNVPathogenicrs797044512GRCh37Chr 11, 76868004: 76868004
19MYO7ANM_ 000260.3(MYO7A): c.3564_ 3571delTGCCCGGGinsA (p.Tyr1188Terfs)indelPathogenicrs797044513GRCh37Chr 11, 76900449: 76900456
20MYO7ANC_ 000011.10: g.(?_ 77212952)_ (77214696_ ?)deldeletionPathogenicGRCh38Chr 11, 77212952: 77214696
21MYO7ANM_ 000260.3(MYO7A): c.1A> G (p.Met1Val)SNVLikely pathogenicrs797044518GRCh37Chr 11, 76841681: 76841681
22MYO7ANM_ 000260.3(MYO7A): c.6231dupG (p.Lys2078Glufs)duplicationPathogenicrs730880367GRCh38Chr 11, 77211331: 77211331
23MYO7ANM_ 000260.3(MYO7A): c.287C> T (p.Thr96Met)SNVLikely pathogenicrs781811444GRCh37Chr 11, 76866954: 76866954
24MYO7ANM_ 000260.3(MYO7A): c.5968C> T (p.Gln1990Ter)SNVPathogenicrs773844428GRCh37Chr 11, 76919765: 76919765
25MYO7ANM_ 000260.3(MYO7A): c.1845delG (p.Lys615Asnfs)deletionPathogenicrs886037762GRCh37Chr 11, 76883841: 76883841
26MYO7ANM_ 000260.3(MYO7A): c.223delG (p.Asp75ThrfsTer31)deletionPathogenicrs876657415GRCh37Chr 11, 76858934: 76858934
27MYO7ANM_ 000260.3(MYO7A): c.1952T> C (p.Leu651Pro)SNVPathogenicrs876657416GRCh37Chr 11, 76885818: 76885818
28MYO7ANM_ 000260.3(MYO7A): c.2311G> T (p.Ala771Ser)SNVPathogenicrs782384464GRCh37Chr 11, 76890119: 76890119
29MYO7ANM_ 000260.3(MYO7A): c.6557T> C (p.Leu2186Pro)SNVLikely pathogenicrs876657417GRCh37Chr 11, 76925023: 76925023
30MYO7ANP_ 000251.3(MYO7A): p.Tyr1302fsTer97protein onlyPathogenic
31USH1CNP_ 005700.2(USH1C): p.Arg357Trpprotein onlyLikely pathogenic
32CDH23NM_ 022124.5(CDH23): c.9127C> T (p.Arg3043Trp)SNVLikely pathogenicrs375907609GRCh38Chr 10, 71811364: 71811364
33PCDH15NM_ 033056.3(PCDH15): c.158-1G> ASNVPathogenicrs876657418GRCh37Chr 10, 56138703: 56138703
34USH1GNM_ 173477.4(USH1G): c.46C> G (p.Leu16Val)SNVLikely pathogenicrs876657419GRCh38Chr 17, 74923028: 74923028
35USH2ANM_ 206933.2(USH2A): c.9921T> G (p.Cys3307Trp)SNVLikely pathogenicrs1057519382GRCh37Chr 1, 215972286: 215972286
36ADGRV1NM_ 032119.3(ADGRV1): c.14119G> T (p.Asp4707Tyr)SNVLikely pathogenicrs1057519383GRCh37Chr 5, 90086765: 90086765
37MYO7ANM_ 000260.3(MYO7A): c.2904G> A (p.Glu968=)SNVLikely pathogenicrs111033233GRCh37Chr 11, 76892635: 76892635
38MYO7ANM_ 000260.3(MYO7A): c.314T> G (p.Val105Gly)SNVLikely pathogenicrs876657654GRCh37Chr 11, 76866981: 76866981
39MYO7ANM_ 000260.3(MYO7A): c.6062A> G (p.Lys2021Arg)SNVLikely pathogenicrs876657655GRCh38Chr 11, 77211162: 77211162
40MYO7ANM_ 000260.3(MYO7A): c.2115C> A (p.Cys705Ter)SNVPathogenicrs782255281GRCh37Chr 11, 76886438: 76886438
41MYO7ANM_ 000260.3(MYO7A): c.3591_ 3592delCT (p.Cys1198Argfs)deletionPathogenic/ Likely pathogenicrs797044564GRCh37Chr 11, 76900476: 76900477
42MYO7ANM_ 000260.3(MYO7A): c.4555delG (p.Val1519Cysfs)deletionPathogenicrs876657712GRCh37Chr 11, 76909653: 76909653
43MYO7ANM_ 000260.3(MYO7A): c.5845_ 5855delATTGCAGACAA (p.Ile1949Glyfs)deletionPathogenicrs876657713GRCh38Chr 11, 77207391: 77207401
44USH1GNM_ 173477.4(USH1G): c.832_ 851del20 (p.Ser278Profs)deletionPathogenicrs397515345GRCh37Chr 17, 72916080: 72916099
45USH1GNM_ 173477.4(USH1G): c.394dupG (p.Val132Glyfs)duplicationPathogenicrs587776546GRCh37Chr 17, 72916537: 72916537
46MYO7ANM_ 000260.3(MYO7A): c.652G> A (p.Asp218Asn)SNVPathogenic/ Likely pathogenicrs201539845GRCh37Chr 11, 76867967: 76867967
47MYO7ANM_ 000260.3(MYO7A): c.3262C> T (p.Gln1088Ter)SNVLikely pathogenicrs376535635GRCh37Chr 11, 76893622: 76893622
48MYO7ANM_ 000260.3(MYO7A): c.2323C> T (p.Gln775Ter)SNVLikely pathogenicrs201892914GRCh37Chr 11, 76890131: 76890131
49CIB2NM_ 006383.3(CIB2): c.192G> C (p.Glu64Asp)SNVPathogenicrs145415848GRCh37Chr 15, 78403513: 78403513
50MYO7ANM_ 000260.3(MYO7A): c.849+5G> ASNVLikely pathogenicrs1060499716GRCh38Chr 11, 77157397: 77157397
51MYO7ANM_ 000260.3(MYO7A): c.1097T> C (p.Leu366Pro)SNVLikely pathogenicrs397516281GRCh37Chr 11, 76871225: 76871225
52MYO7ANM_ 000260.3(MYO7A): c.1200+1G> ASNVPathogenicrs397516283GRCh37Chr 11, 76871329: 76871329
53MYO7ANM_ 000260.3(MYO7A): c.1344-2A> GSNVPathogenicrs111033415GRCh37Chr 11, 76873164: 76873164
54MYO7ANM_ 000260.3(MYO7A): c.1370C> T (p.Ala457Val)SNVLikely pathogenicrs111033286GRCh37Chr 11, 76873192: 76873192
55MYO7ANM_ 000260.3(MYO7A): c.1401_ 1403dupGCA (p.Arg467_ His468insGln)duplicationLikely pathogenicrs111033219GRCh37Chr 11, 76873223: 76873225
56MYO7ANM_ 000260.3(MYO7A): c.141G> A (p.Trp47Ter)SNVPathogenicrs397516285GRCh37Chr 11, 76858852: 76858852
57MYO7ANM_ 000260.3(MYO7A): c.1556G> A (p.Gly519Asp)SNVPathogenicrs111033206GRCh37Chr 11, 76873900: 76873900
58MYO7ANM_ 000260.3(MYO7A): c.1556delG (p.Gly519Alafs)deletionPathogenicrs111033206GRCh37Chr 11, 76873900: 76873900
59MYO7ANM_ 000260.3(MYO7A): c.1690+1G> ASNVLikely pathogenicrs111033389GRCh37Chr 11, 76874035: 76874035
60MYO7ANM_ 000260.3(MYO7A): c.1833_ 1838dupCAGCCA (p.Ser612_ Gln613insHisSer)duplicationLikely pathogenicrs397516290GRCh37Chr 11, 76883829: 76883834
61MYO7ANM_ 000260.3(MYO7A): c.19-1G> ASNVLikely pathogenicrs111033426GRCh37Chr 11, 76853754: 76853754
62MYO7ANM_ 000260.3(MYO7A): c.1900C> T (p.Arg634Ter)SNVPathogenicrs111033180GRCh37Chr 11, 76883896: 76883896
63MYO7ANM_ 000260.3(MYO7A): c.1952_ 1953insAG (p.Cys652Glyfs)insertionLikely pathogenicrs111033510GRCh37Chr 11, 76885818: 76885819
64MYO7ANM_ 000260.3(MYO7A): c.1963C> T (p.Gln655Ter)SNVPathogenicrs397516291GRCh37Chr 11, 76885829: 76885829
65MYO7ANM_ 000260.3(MYO7A): c.2005C> T (p.Arg669Ter)SNVPathogenic/ Likely pathogenicrs111033201GRCh37Chr 11, 76885871: 76885871
66MYO7ANM_ 000260.3(MYO7A): c.2094+1G> ASNVPathogenicrs111033404GRCh37Chr 11, 76885961: 76885961
67MYO7ANM_ 000260.3(MYO7A): c.2094+1G> CSNVLikely pathogenicrs111033404GRCh37Chr 11, 76885961: 76885961
68MYO7ANM_ 000260.3(MYO7A): c.2172delC (p.Lys725Argfs)deletionPathogenicrs397516294GRCh37Chr 11, 76886495: 76886495
69MYO7ANM_ 000260.3(MYO7A): c.2187+1G> ASNVLikely pathogenicrs111033290GRCh37Chr 11, 76886511: 76886511
70MYO7ANM_ 000260.3(MYO7A): c.2283-1G> T (p.Ser762CysfsTer61)SNVPathogenicrs397516295GRCh37Chr 11, 76890090: 76890090
71MYO7ANM_ 000260.3(MYO7A): c.2904G> T (p.Glu968Asp)SNVPathogenicrs111033233GRCh37Chr 11, 76892635: 76892635
72MYO7ANM_ 000260.3(MYO7A): c.3327delC (p.His1109Glnfs)deletionPathogenicrs111033433GRCh37Chr 11, 76894154: 76894154
73MYO7ANM_ 000260.3(MYO7A): c.3476G> T (p.Gly1159Val)SNVPathogenic/ Likely pathogenicrs199897298GRCh37Chr 11, 76895733: 76895733
74MYO7ANM_ 000260.3(MYO7A): c.3508G> A (p.Glu1170Lys)SNVPathogenicrs111033214GRCh37Chr 11, 76900393: 76900393
75MYO7ANM_ 000260.3(MYO7A): c.3532delC (p.Gln1178Serfs)deletionLikely pathogenicrs111033239GRCh37Chr 11, 76900417: 76900417
76MYO7ANM_ 000260.3(MYO7A): c.3533A> C (p.Gln1178Pro)SNVLikely pathogenicrs111033482GRCh37Chr 11, 76900418: 76900418
77MYO7ANM_ 000260.3(MYO7A): c.3543_ 3544dupCA (p.Asn1182Thrfs)duplicationLikely pathogenicrs111033390GRCh37Chr 11, 76900428: 76900429
78MYO7ANM_ 000260.3(MYO7A): c.3572G> A (p.Gly1191Asp)SNVLikely pathogenicrs397516301GRCh38Chr 11, 77189412: 77189412
79MYO7ANM_ 000260.3(MYO7A): c.3696_ 3706delAAGGACCTTTG (p.Arg1232Serfs)deletionPathogenicrs397516303GRCh37Chr 11, 76901130: 76901140
80MYO7ANM_ 000260.3(MYO7A): c.3719G> A (p.Arg1240Gln)SNVPathogenicrs111033178GRCh37Chr 11, 76901153: 76901153
81MYO7ANM_ 000260.3(MYO7A): c.3728dupC (p.Pro1244Alafs)duplicationPathogenicrs397516304GRCh37Chr 11, 76901162: 76901162
82MYO7ANM_ 000260.3(MYO7A): c.3764delA (p.Lys1255Argfs)deletionPathogenic/ Likely pathogenicrs111033347GRCh37Chr 11, 76901755: 76901755
83MYO7ANM_ 000260.3(MYO7A): c.397C> T (p.His133Tyr)SNVLikely pathogenicrs111033403GRCh37Chr 11, 76867064: 76867064
84MYO7ANM_ 000260.3(MYO7A): c.397dupC (p.His133Profs)duplicationLikely pathogenicrs111033187GRCh37Chr 11, 76867064: 76867064
85MYO7ANM_ 000260.3(MYO7A): c.401T> A (p.Ile134Asn)SNVLikely pathogenicrs111033181GRCh37Chr 11, 76867068: 76867068
86MYO7ANM_ 000260.3(MYO7A): c.4065delC (p.His1355Glnfs)deletionLikely pathogenicrs111033202GRCh37Chr 11, 76903236: 76903236
87MYO7ANM_ 000260.3(MYO7A): c.4293G> A (p.Trp1431Ter)SNVPathogenicrs397516308GRCh37Chr 11, 76905539: 76905539
88MYO7ANM_ 000260.3(MYO7A): c.4411T> C (p.Ser1471Pro)SNVLikely pathogenicrs397516310GRCh37Chr 11, 76908613: 76908613
89MYO7ANM_ 000260.3(MYO7A): c.4442-2A> CSNVLikely pathogenicrs111033337GRCh37Chr 11, 76909538: 76909538
90MYO7ANM_ 000260.3(MYO7A): c.4544_ 4551delAGATCATGinsCA (p.Glu1515_ Met1517delinsAla)indelPathogenic/ Likely pathogenicrs111033259GRCh37Chr 11, 76909642: 76909649
91MYO7ANM_ 000260.3(MYO7A): c.458G> A (p.Cys153Tyr)SNVLikely pathogenicrs397516312GRCh37Chr 11, 76867125: 76867125
92MYO7ANM_ 000260.3(MYO7A): c.4821T> A (p.Tyr1607Ter)SNVPathogenicrs397516315GRCh37Chr 11, 76910832: 76910832
93MYO7ANM_ 000260.3(MYO7A): c.494C> T (p.Thr165Met)SNVPathogenicrs111033174GRCh37Chr 11, 76867729: 76867729
94MYO7ANM_ 000260.3(MYO7A): c.496delG (p.Glu166Argfs)deletionPathogenicrs111033448GRCh37Chr 11, 76867731: 76867731
95MYO7ANM_ 000260.3(MYO7A): c.5101C> T (p.Arg1701Ter)SNVPathogenicrs111033182GRCh37Chr 11, 76913402: 76913402
96MYO7ANM_ 000260.3(MYO7A): c.5208dupC (p.Lys1737Glnfs)duplicationLikely pathogenicrs111033276GRCh37Chr 11, 76914144: 76914144
97MYO7ANM_ 000260.3(MYO7A): c.5327-11A> GSNVLikely pathogenicrs397516316GRCh37Chr 11, 76915110: 76915110
98MYO7ANM_ 000260.3(MYO7A): c.5392C> T (p.Gln1798Ter)SNVPathogenicrs397516317GRCh37Chr 11, 76915186: 76915186
99MYO7ANM_ 000260.3(MYO7A): c.5573T> C (p.Leu1858Pro)SNVPathogenicrs368657015GRCh37Chr 11, 76916599: 76916599
100MYO7ANM_ 000260.3(MYO7A): c.5581dupC (p.Arg1861Profs)duplicationPathogenicrs397516320GRCh37Chr 11, 76916607: 76916607
101MYO7ANM_ 000260.3(MYO7A): c.5617C> T (p.Arg1873Trp)SNVPathogenicrs397516321GRCh37Chr 11, 76916643: 76916643
102MYO7ANM_ 000260.3(MYO7A): c.5618G> A (p.Arg1873Gln)SNVLikely pathogenicrs397516322GRCh37Chr 11, 76916644: 76916644
103MYO7ANM_ 000260.3(MYO7A): c.5648G> A (p.Arg1883Gln)SNVPathogenic/ Likely pathogenicrs111033215GRCh37Chr 11, 76917153: 76917153
104MYO7ANM_ 000260.3(MYO7A): c.5660C> T (p.Pro1887Leu)SNVPathogenicrs199606180GRCh37Chr 11, 76917165: 76917165
105MYO7ANM_ 000260.3(MYO7A): c.5804T> C (p.Leu1935Pro)SNVLikely pathogenicrs397516323GRCh37Chr 11, 76918395: 76918395
106MYO7ANM_ 000260.3(MYO7A): c.5824G> T (p.Gly1942Ter)SNVPathogenic/ Likely pathogenicrs111033192GRCh37Chr 11, 76918415: 76918415
107MYO7ANM_ 000260.3(MYO7A): c.582delC (p.Ile195Phefs)deletionPathogenicrs111033238GRCh37Chr 11, 76867817: 76867817
108MYO7ANM_ 000260.3(MYO7A): c.587T> C (p.Leu196Pro)SNVLikely pathogenicrs397516324GRCh37Chr 11, 76867822: 76867822
109MYO7ANM_ 000260.3(MYO7A): c.5886_ 5888delCTT (p.Phe1963del)deletionPathogenicrs111033232GRCh37Chr 11, 76919504: 76919506
110MYO7ANM_ 000260.3(MYO7A): c.5945G> A (p.Gly1982Glu)SNVLikely pathogenicrs111033250GRCh37Chr 11, 76919742: 76919742
111MYO7ANM_ 000260.3(MYO7A): c.6025delG (p.Ala2009Profs)deletionPathogenicrs397516326GRCh37Chr 11, 76919822: 76919822
112MYO7ANM_ 000260.3(MYO7A): c.6029A> G (p.Asp2010Gly)SNVPathogenicrs111033175GRCh37Chr 11, 76919826: 76919826
113MYO7ANM_ 000260.3(MYO7A): c.6070C> T (p.Arg2024Ter)SNVPathogenicrs111033198GRCh37Chr 11, 76922215: 76922215
114MYO7ANM_ 000260.3(MYO7A): c.631A> G (p.Ser211Gly)SNVLikely pathogenicrs111033486GRCh37Chr 11, 76867946: 76867946
115MYO7ANM_ 000260.3(MYO7A): c.640G> A (p.Gly214Arg)SNVPathogenicrs111033283GRCh37Chr 11, 76867955: 76867955
116MYO7ANM_ 000260.3(MYO7A): c.6439-2A> GSNVPathogenicrs397516330GRCh37Chr 11, 76924903: 76924903
117MYO7ANM_ 000260.3(MYO7A): c.6498C> A (p.Tyr2166Ter)SNVPathogenicrs397516331GRCh37Chr 11, 76924964: 76924964
118MYO7ANM_ 000260.3(MYO7A): c.6560G> A (p.Gly2187Asp)SNVLikely pathogenicrs397516332GRCh37Chr 11, 76925653: 76925653
119MYO7ANM_ 000260.3(MYO7A): c.722G> A (p.Arg241His)SNVLikely pathogenicrs111033284GRCh37Chr 11, 76868037: 76868037
120MYO7ANM_ 000260.3(MYO7A): c.999T> G (p.Tyr333Ter)SNVPathogenicrs111033285GRCh37Chr 11, 76869472: 76869472
121PCDH15NM_ 033056.3(PCDH15): c.16delT (p.Tyr6Ilefs)deletionPathogenicrs397517451GRCh37Chr 10, 56424007: 56424007
122CDH23NM_ 022124.5(CDH23): c.193delC (p.Leu65Trpfs)deletionPathogenicrs796051861GRCh37Chr 10, 73269886: 73269886
123PCDH15NM_ 033056.3(PCDH15): c.733C> T (p.Arg245Ter)SNVPathogenicrs111033260GRCh37Chr 10, 56077174: 56077174
124USH1CNM_ 005709.3(USH1C): c.238dupC (p.Arg80Profs)duplicationPathogenicrs397515359GRCh37Chr 11, 17552956: 17552956
125USH1CNM_ 005709.3(USH1C): c.216G> A (p.Val72=)SNVPathogenicrs151045328GRCh37Chr 11, 17552978: 17552978

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:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1periciliary membrane compartmentGO:199007510.6USH2A, WHRN
2microvillusGO:000590210.6CLRN1, MYO7A, USH1C
3ciliary basal bodyGO:003606410.5USH1G, USH2A, WHRN
4stereocilia ankle linkGO:000214110.5USH2A, WHRN
5stereocilia ankle link complexGO:000214210.5USH2A, WHRN
6growth coneGO:003042610.4CXADR, GSK3B, WHRN
7photoreceptor outer segmentGO:000175010.4CIB2, MYO7A, PCDH15, USH1C
8photoreceptor connecting ciliumGO:003239110.3MYO7A, USH1G, USH2A, WHRN
9USH2 complexGO:199069610.0USH2A, WHRN
10photoreceptor inner segmentGO:000191710.0CIB2, MYO7A, USH1C, USH1G, USH2A, WHRN
11stereocilium bundleGO:00324219.9PCDH15, USH2A, WHRN
12stereociliumGO:00324209.4ADGRV1, CDH23, CIB2, CLRN1, MYO7A, PCDH15

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1maintenance of animal organ identityGO:004849610.8ADGRV1, USH2A
2auditory receptor cell differentiationGO:004249110.7MYO7A, PCDH15, USH1C
3inner ear morphogenesisGO:004247210.7MYO7A, USH1C, USH1G
4inner ear receptor cell differentiationGO:006011310.7MYO7A, USH1G, USH2A
5auditory receptor cell stereocilium organizationGO:006008810.4CLRN1, MYO7A, PCDH15, WHRN
6equilibrioceptionGO:005095710.2CDH23, CLRN1, MYO7A, PCDH15, USH1C, USH1G
7inner ear receptor stereocilium organizationGO:006012210.2CDH23, MYO7A, PCDH15, USH1C, USH1G, WHRN
8photoreceptor cell maintenanceGO:00454949.8ADGRV1, CDH23, CIB2, CLRN1, PCDH15, USH1C
9sensory perception of light stimulusGO:00509539.6ADGRV1, CDH23, CLRN1, MYO7A, PCDH15, USH1C
10sensory perception of soundGO:00076059.6ADGRV1, CDH23, CLRN1, MYO7A, PCDH15, USH1C
11visual perceptionGO:00076019.5ADGRV1, CDH23, CLRN1, MYO7A, PCDH15, USH2A

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

idNameGO IDScoreTop Affiliating Genes
1spectrin bindingGO:003050710.1MYO7A, USH1C, USH1G

Sources for Usher Syndrome, Type 1b

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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