MCID: USH006
MIFTS: 51

Usher Syndrome, Type 1b 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 51 47 12
Ush1 23 47 24 53
Usher's Syndrome Type 1b 69 26
Usher Syndrome, Type 1e 47 12
Usher Syndrome Type 1e 24 26
Usher Syndrome Type 1 24 53
Usher Syndrome Type I 23 24
Ush1e 47 24
Ush1b 24 69
Retinitis Pigmentosa and Congenital Deafness 47
Usher Syndrome, Type I, French Variety 47
Usher Syndrome, Type 1a 47
 
Usher Syndrome, Type Ie 67
Usher Syndrome, Type Ib 67
Usher Syndrome, Type 1 47
Usher Syndrome, Type I 67
Usher Syndrome Type 1b 24
Usher Syndrome Type Ib 69
Usher Syndrome 1b 69
Ush 1b 24
Ushib 69
Ush1a 47
Ush 1 24
Us1 47

Characteristics:

Orphanet epidemiological data:

53
ush1:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal

HPO:

63
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:

OMIM51 276900
Orphanet53 ORPHA231169
UMLS via Orphanet68 C0339533
ICD10 via Orphanet30 H35.5
MeSH38 D052245

Summaries for Usher Syndrome, Type 1b

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OMIM:51 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 1c and usher syndrome, type ik, 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 eye, cerebellum and retina, and related mouse phenotypes are behavior/neurological and hearing/vestibular/ear.

UniProtKB/Swiss-Prot:69 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.

NIH Rare Diseases:47 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

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 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 all 28)
idRelated DiseaseScoreTop Affiliating Genes
1usher syndrome, type 1c11.6
2usher syndrome, type ik11.1
3usher syndrome, type 1d11.1
4usher syndrome, type ij11.1
5usher syndrome, type 2a11.0
6usher syndrome, type 2c11.0
7usher syndrome, type 2d11.0
8usher syndrome, type 1f11.0
9usher syndrome, type 1g10.9
10usher syndrome10.4
11continuous spike-wave during slow sleep syndrome10.1MYO7A, PCDH15
12ovarian embryonal carcinoma10.1MYO7A, PCDH15
13vapb-related amyotrophic lateral sclerosis10.1CIB2, MYO7A
14deafness, autosomal recessive 129.9CDH23, PCDH15, USH1C
15deafness, autosomal recessive9.9CIB2, USH1C
16retinitis9.9
17hyperimmunoglobulin syndrome9.9CDH23, MYO7A, USH1C
18porokeratosis 9, multiple types9.9MYO7A, PCDH15
19herpes simplex9.9
20deafness, autosomal recessive 18a9.8MYO7A, USH1C, USH1G
21pyelitis9.7CDH23, MYO7A, PCDH15, USH1C
22deafness, autosomal recessive 239.6MYO7A, PCDH15, USH1C, USH1G
23autosomal recessive nonsyndromic deafness9.6CDH23, CIB2, MYO7A, PCDH15
24telogen effluvium9.6CDH23, MYO7A, PCDH15, USH1C
25localized lichen myxedematosus with mixed features of different subtypes9.3CDH23, CIB2, MYO7A, PCDH15, USH1C
26pierre robin syndrome9.3CDH23, MYO7A, PCDH15, USH1C, USH1G
27scar contracture8.8CDH23, CIB2, MYO7A, PCDH15, USH1C, USH1G
28deafness, autosomal recessive 27.2CDH23, CIB2, MYO7A, PCDH15, USH1C, USH1E

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

Human phenotypes related to Usher Syndrome, Type 1b:

 63 53 (show all 35)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment63 53 hallmark (90%) Very frequent (99-80%) HP:0000407
2 visual impairment63 hallmark (90%) HP:0000505
3 abnormal electroretinogram63 53 hallmark (90%) Very frequent (99-80%) HP:0000512
4 nyctalopia63 hallmark (90%) HP:0000662
5 visual field defect63 hallmark (90%) HP:0001123
6 incoordination63 hallmark (90%) HP:0002311
7 abnormality of retinal pigmentation63 hallmark (90%) HP:0007703
8 cognitive impairment63 hallmark (90%) HP:0100543
9 cataract63 53 typical (50%) Frequent (79-30%) HP:0000518
10 hypermetropia63 typical (50%) HP:0000540
11 aplasia/hypoplasia of the cerebellum63 53 typical (50%) Frequent (79-30%) HP:0007360
12 abnormality of dental enamel63 53 occasional (7.5%) Occasional (29-5%) HP:0000682
13 hallucinations63 53 occasional (7.5%) Occasional (29-5%) HP:0000738
14 cerebral cortical atrophy63 53 occasional (7.5%) Occasional (29-5%) HP:0002120
15 rod-cone dystrophy63 HP:0000510
16 undetectable electroretinogram63 HP:0000550
17 visual loss63 53 Very frequent (99-80%) HP:0000572
18 motor delay63 HP:0001270
19 absent vestibular function63 HP:0008555
20 congenital sensorineural hearing impairment63 HP:0008527
21 vestibular areflexia63 HP:0008568
22 abnormality of cochlea53 Very frequent (99-80%)
23 scotoma53 Very frequent (99-80%)
24 night blindness53 Very frequent (99-80%)
25 depression53 Occasional (29-5%)
26 anxiety53 Occasional (29-5%)
27 intellectual disability53 Very frequent (99-80%)
28 ataxia53 Very frequent (99-80%)
29 global developmental delay53 Very frequent (99-80%)
30 vestibular hypofunction53 Very frequent (99-80%)
31 iris hypopigmentation53 Very frequent (99-80%)
32 high-grade hypermetropia53 Frequent (79-30%)
33 subcortical cerebral atrophy53 Occasional (29-5%)
34 hemianopsia53 Very frequent (99-80%)
35 schizophrenia53 Frequent (79-30%)

UMLS symptoms related to Usher Syndrome, Type 1b:


unspecified visual loss

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 126
2 Usher Syndrome, Type 1b26
3 Usher Syndrome, Type 1e26
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:

35
Eye, Cerebellum, Retina

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

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

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053868.8CDH23, CIB2, MYO7A, PCDH15, USH1C, USH1G
2MP:00053778.8CDH23, CIB2, MYO7A, PCDH15, USH1C, USH1G
3MP:00036318.8CDH23, CIB2, MYO7A, PCDH15, USH1C, USH1G
4MP:00053918.5CDH23, 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:

69 (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 136)
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.1797G> A (p.Met599Ile)SNVPathogenicrs121965082GRCh37Chr 11, 76877208: 76877208
5MYO7ANM_000260.3(MYO7A): c.93C> A (p.Cys31Ter)SNVPathogenicrs35689081GRCh37Chr 11, 76853829: 76853829
6MYO7ANM_000260.3(MYO7A): c.1996C> T (p.Arg666Ter)SNVPathogenicrs121965085GRCh37Chr 11, 76885862: 76885862
7MYO7ANM_000260.3(MYO7A): c.973_976delATCC (p.Ile325Cysfs)deletionPathogenicrs797044490GRCh37Chr 11, 76869446: 76869449
8MYO7ANM_000260.3(MYO7A): c.977T> A (p.Leu326Gln)SNVLikely pathogenicrs797044491GRCh38Chr 11, 77158404: 77158404
9MYO7ANM_000260.3(MYO7A): c.3892G> A (p.Gly1298Arg)SNVLikely pathogenicrs727503329GRCh38Chr 11, 77190838: 77190838
10MYO7ANM_000260.3(MYO7A): c.6326C> T (p.Thr2109Ile)SNVLikely pathogenicrs377670513GRCh37Chr 11, 76922954: 76922954
11MYO7ANM_000260.3(MYO7A): c.470+1G> ASNVPathogenicrs797044510GRCh37Chr 11, 76867138: 76867138
12MYO7ANM_000260.3(MYO7A): c.73G> A (p.Gly25Arg)SNVLikely pathogenicrs782252317GRCh37Chr 11, 76853809: 76853809
13MYO7ANM_000260.3(MYO7A): c.77C> A (p.Ala26Glu)SNVLikely pathogenicrs369125667GRCh37Chr 11, 76853813: 76853813
14MYO7ANM_000260.3(MYO7A): c.2863G> A (p.Gly955Ser)SNVLikely pathogenicrs781988557GRCh37Chr 11, 76892594: 76892594
15MYO7ANM_000260.3(MYO7A)duplicationLikely pathogenicrs111033388GRCh37Chr 11, 76925707: 76925727
16MYO7ANM_000260.3(MYO7A): c.3827C> T (p.Ser1276Leu)SNVLikely pathogenicrs369458838GRCh37Chr 11, 76901818: 76901818
17MYO7ANM_000260.3(MYO7A): c.5899C> T (p.Arg1967Ter)SNVLikely pathogenic, Pathogenicrs376764423GRCh38Chr 11, 77208472: 77208472
18MYO7ANM_000260.3(MYO7A): c.1208A> G (p.Tyr403Cys)SNVLikely pathogenicrs797044511GRCh37Chr 11, 76872026: 76872026
19MYO7ANM_000260.3(MYO7A): c.5464A> C (p.Thr1822Pro)SNVLikely pathogenicrs727504541GRCh37Chr 11, 76915258: 76915258
20MYO7ANM_000260.3(MYO7A): c.689C> T (p.Ala230Val)SNVPathogenicrs797044512GRCh37Chr 11, 76868004: 76868004
21MYO7ANM_000260.3(MYO7A): c.3564_3571delTGCCCGGGinsA (p.Tyr1188Terfs)indelPathogenicrs797044513GRCh37Chr 11, 76900449: 76900456
22MYO7ANC_000011.10: g.(?_77212952)_(77214696_?)deldeletionPathogenicGRCh38Chr 11, 77212952: 77214696
23MYO7ANM_000260.3(MYO7A): c.1A> G (p.Met1Val)SNVLikely pathogenicrs797044518GRCh37Chr 11, 76841681: 76841681
24MYO7ANM_000260.3(MYO7A): c.6231dupG (p.Lys2078Glufs)duplicationPathogenicrs730880367GRCh37Chr 11, 76922376: 76922376
25MYO7ANM_000260.3(MYO7A): c.287C> T (p.Thr96Met)SNVLikely pathogenicrs781811444GRCh37Chr 11, 76866954: 76866954
26MYO7ANM_000260.3(MYO7A): c.5968C> T (p.Gln1990Ter)SNVPathogenicrs773844428GRCh37Chr 11, 76919765: 76919765
27MYO7ANM_000260.3(MYO7A): c.1845delG (p.Lys615Asnfs)deletionPathogenicrs886037762GRCh37Chr 11, 76883841: 76883841
28MYO7ANM_000260.3(MYO7A): c.4115T> G (p.Val1372Gly)SNVLikely pathogenicrs869312181GRCh38Chr 11, 77192241: 77192241
29MYO7ANM_000260.3(MYO7A): c.223delG (p.Asp75ThrfsTer31)deletionPathogenicrs876657415GRCh37Chr 11, 76858934: 76858934
30MYO7ANM_000260.3(MYO7A): c.1952T> C (p.Leu651Pro)SNVPathogenicrs876657416GRCh38Chr 11, 77174772: 77174772
31MYO7ANM_000260.3(MYO7A): c.2311G> T (p.Ala771Ser)SNVPathogenicrs782384464GRCh38Chr 11, 77179073: 77179073
32MYO7ANM_000260.3(MYO7A): c.6557T> C (p.Leu2186Pro)SNVLikely pathogenicrs876657417GRCh38Chr 11, 77213978: 77213978
33MYO7ANP_000251.3(MYO7A): p.Tyr1302fsTer97protein onlyPathogenicChr na, -1: -1
34USH1CNP_005700.2(USH1C): p.Arg357Trpprotein onlyLikely pathogenicChr na, -1: -1
35CDH23NM_022124.5(CDH23): c.3178C> T (p.Arg1060Trp)SNVLikely pathogenicrs201536811GRCh37Chr 10, 73468926: 73468926
36CDH23NM_022124.5(CDH23): c.9127C> T (p.Arg3043Trp)SNVLikely pathogenicrs375907609GRCh38Chr 10, 71811364: 71811364
37PCDH15NM_033056.3(PCDH15): c.158-1G> ASNVPathogenicrs876657418GRCh37Chr 10, 56138703: 56138703
38USH1GNM_173477.4(USH1G): c.46C> G (p.Leu16Val)SNVLikely pathogenicrs876657419GRCh38Chr 17, 74923028: 74923028
39USH2Aundetermined variantLikely pathogenicChr na, -1: -1
40ADGRV1undetermined variantLikely pathogenicChr na, -1: -1
41ADGRV1undetermined variantLikely pathogenicChr na, -1: -1
42MYO7ANM_000260.3(MYO7A): c.1619C> A (p.Pro540His)SNVLikely pathogenicrs782607566GRCh37Chr 11, 76873963: 76873963
43MYO7ANM_000260.3(MYO7A): c.2904G> A (p.Glu968=)SNVLikely pathogenicrs111033233GRCh37Chr 11, 76892635: 76892635
44MYO7ANM_000260.3(MYO7A): c.314T> G (p.Val105Gly)SNVLikely pathogenicrs876657654GRCh38Chr 11, 77155935: 77155935
45MYO7ANM_000260.3(MYO7A): c.6062A> G (p.Lys2021Arg)SNVLikely pathogenicrs876657655GRCh38Chr 11, 77211162: 77211162
46MYO7ANM_000260.3(MYO7A): c.2115C> A (p.Cys705Ter)SNVPathogenicrs782255281GRCh37Chr 11, 76886438: 76886438
47MYO7ANM_000260.3(MYO7A): c.3591_3592delCT (p.Cys1198Argfs)deletionLikely pathogenic, Pathogenicrs797044564GRCh37Chr 11, 76900476: 76900477
48MYO7ANM_000260.3(MYO7A): c.4555delG (p.Val1519Cysfs)deletionPathogenicrs876657712GRCh38Chr 11, 77198608: 77198608
49MYO7ANM_000260.3(MYO7A): c.5845_5855delATTGCAGACAA (p.Ile1949Glyfs)deletionPathogenicrs876657713GRCh38Chr 11, 77207391: 77207401
50USH1GNM_173477.4(USH1G): c.832_851del20 (p.Ser278Profs)deletionPathogenicrs397515345GRCh37Chr 17, 72916080: 72916099
51USH1GNM_173477.4(USH1G): c.394dupG (p.Val132Glyfs)duplicationPathogenicrs587776546GRCh37Chr 17, 72916537: 72916537
52MYO7ANM_000260.3(MYO7A): c.652G> A (p.Asp218Asn)SNVLikely pathogenic, Pathogenicrs201539845GRCh37Chr 11, 76867967: 76867967
53MYO7ANM_000260.3: c.3262C> TSNVLikely pathogenicChr na, -1: -1
54MYO7ANM_000260.3: c.2323C> TSNVLikely pathogenicChr na, -1: -1
55CIB2NM_006383.3(CIB2): c.192G> C (p.Glu64Asp)SNVPathogenicrs145415848GRCh37Chr 15, 78403513: 78403513
56MYO7ANM_000260.3(MYO7A): c.1097T> C (p.Leu366Pro)SNVLikely pathogenicrs397516281GRCh37Chr 11, 76871225: 76871225
57MYO7ANM_000260.3(MYO7A): c.1200+1G> ASNVPathogenicrs397516283GRCh37Chr 11, 76871329: 76871329
58MYO7ANM_000260.3(MYO7A): c.132+5G> ASNVLikely pathogenicrs397516284GRCh37Chr 11, 76853873: 76853873
59MYO7ANM_000260.3(MYO7A): c.1344-2A> GSNVPathogenicrs111033415GRCh37Chr 11, 76873164: 76873164
60MYO7ANM_000260.3(MYO7A): c.1370C> T (p.Ala457Val)SNVLikely pathogenicrs111033286GRCh37Chr 11, 76873192: 76873192
61MYO7ANM_000260.3(MYO7A): c.1401_1403dupGCA (p.Arg467_His468insGln)duplicationLikely pathogenicrs111033219GRCh37Chr 11, 76873223: 76873225
62MYO7ANM_000260.3(MYO7A): c.141G> A (p.Trp47Ter)SNVPathogenicrs397516285GRCh37Chr 11, 76858852: 76858852
63MYO7ANM_000260.3(MYO7A): c.1556G> A (p.Gly519Asp)SNVPathogenicrs111033206GRCh37Chr 11, 76873900: 76873900
64MYO7ANM_000260.3(MYO7A): c.1556delG (p.Gly519Alafs)deletionPathogenicrs111033206GRCh37Chr 11, 76873900: 76873900
65MYO7ANM_000260.3(MYO7A): c.1690+1G> ASNVLikely pathogenicrs111033389GRCh37Chr 11, 76874035: 76874035
66MYO7ANM_000260.3(MYO7A): c.1833_1838dupCAGCCA (p.Ser612_Gln613insHisSer)duplicationLikely pathogenicrs397516290GRCh37Chr 11, 76883829: 76883834
67MYO7ANM_000260.3(MYO7A): c.19-1G> ASNVLikely pathogenicrs111033426GRCh37Chr 11, 76853754: 76853754
68MYO7ANM_000260.3(MYO7A): c.1900C> T (p.Arg634Ter)SNVPathogenicrs111033180GRCh37Chr 11, 76883896: 76883896
69MYO7ANM_000260.3(MYO7A): c.1952_1953insAG (p.Cys652Glyfs)insertionLikely pathogenicrs111033510GRCh37Chr 11, 76885818: 76885819
70MYO7ANM_000260.3(MYO7A): c.1963C> T (p.Gln655Ter)SNVPathogenicrs397516291GRCh37Chr 11, 76885829: 76885829
71MYO7ANM_000260.3(MYO7A): c.2005C> T (p.Arg669Ter)SNVLikely pathogenic, Pathogenicrs111033201GRCh37Chr 11, 76885871: 76885871
72MYO7ANM_000260.3(MYO7A): c.2094+1G> ASNVPathogenicrs111033404GRCh37Chr 11, 76885961: 76885961
73MYO7ANM_000260.3(MYO7A): c.2094+1G> CSNVLikely pathogenicrs111033404GRCh37Chr 11, 76885961: 76885961
74MYO7ANM_000260.3(MYO7A): c.2172delC (p.Lys725Argfs)deletionPathogenicrs397516294GRCh37Chr 11, 76886495: 76886495
75MYO7ANM_000260.3(MYO7A): c.2187+1G> ASNVLikely pathogenicrs111033290GRCh37Chr 11, 76886511: 76886511
76MYO7ANM_000260.3(MYO7A): c.2283-1G> T (p.Ser762CysfsTer61)SNVPathogenicrs397516295GRCh37Chr 11, 76890090: 76890090
77MYO7ANM_000260.3(MYO7A): c.2904G> T (p.Glu968Asp)SNVPathogenicrs111033233GRCh37Chr 11, 76892635: 76892635
78MYO7ANM_000260.3(MYO7A): c.3327delC (p.His1109Glnfs)deletionPathogenicrs111033433GRCh37Chr 11, 76894154: 76894154
79MYO7ANM_000260.3(MYO7A): c.3476G> T (p.Gly1159Val)SNVLikely pathogenic, Pathogenicrs199897298GRCh37Chr 11, 76895733: 76895733
80MYO7ANM_000260.3(MYO7A): c.3508G> A (p.Glu1170Lys)SNVPathogenicrs111033214GRCh37Chr 11, 76900393: 76900393
81MYO7ANM_000260.3(MYO7A): c.3532delC (p.Gln1178Serfs)deletionLikely pathogenicrs111033239GRCh37Chr 11, 76900417: 76900417
82MYO7ANM_000260.3(MYO7A): c.3533A> C (p.Gln1178Pro)SNVLikely pathogenicrs111033482GRCh38Chr 11, 77189373: 77189373
83MYO7ANM_000260.3(MYO7A): c.3543_3544dupCA (p.Asn1182Thrfs)duplicationLikely pathogenicrs111033390GRCh37Chr 11, 76900428: 76900429
84MYO7ANM_000260.3(MYO7A): c.3572G> A (p.Gly1191Asp)SNVLikely pathogenicrs397516301GRCh37Chr 11, 76900457: 76900457
85MYO7ANM_000260.3(MYO7A): c.3696_3706delAAGGACCTTTG (p.Arg1232Serfs)deletionPathogenicrs397516303GRCh37Chr 11, 76901130: 76901140
86MYO7ANM_000260.3(MYO7A): c.3719G> A (p.Arg1240Gln)SNVPathogenicrs111033178GRCh37Chr 11, 76901153: 76901153
87MYO7ANM_000260.3(MYO7A): c.3728dupC (p.Pro1244Alafs)duplicationPathogenicrs397516304GRCh37Chr 11, 76901162: 76901162
88MYO7ANM_000260.3(MYO7A): c.3764delA (p.Lys1255Argfs)deletionLikely pathogenic, Pathogenicrs111033347GRCh37Chr 11, 76901755: 76901755
89MYO7ANM_000260.3(MYO7A): c.397C> T (p.His133Tyr)SNVLikely pathogenicrs111033403GRCh38Chr 11, 77156018: 77156018
90MYO7ANM_000260.3(MYO7A): c.397dupC (p.His133Profs)duplicationLikely pathogenicrs111033187GRCh37Chr 11, 76867064: 76867064
91MYO7ANM_000260.3(MYO7A): c.401T> A (p.Ile134Asn)SNVLikely pathogenicrs111033181GRCh37Chr 11, 76867068: 76867068
92MYO7ANM_000260.3(MYO7A): c.4065delC (p.His1355Glnfs)deletionLikely pathogenicrs111033202GRCh37Chr 11, 76903236: 76903236
93MYO7ANM_000260.3(MYO7A): c.4293G> A (p.Trp1431Ter)SNVPathogenicrs397516308GRCh37Chr 11, 76905539: 76905539
94MYO7ANM_000260.3(MYO7A): c.4411T> C (p.Ser1471Pro)SNVLikely pathogenicrs397516310GRCh37Chr 11, 76908613: 76908613
95MYO7ANM_000260.3(MYO7A): c.4442-2A> CSNVLikely pathogenicrs111033337GRCh37Chr 11, 76909538: 76909538
96MYO7ANM_000260.3(MYO7A): c.4544_4551delAGATCATGinsCA (p.Glu1515_Met1517delinsAla)indelLikely pathogenic, Pathogenicrs111033259GRCh37Chr 11, 76909642: 76909649
97MYO7ANM_000260.3(MYO7A): c.458G> A (p.Cys153Tyr)SNVLikely pathogenicrs397516312GRCh37Chr 11, 76867125: 76867125
98MYO7ANM_000260.3(MYO7A): c.4805G> A (p.Arg1602Gln)SNVPathogenicrs139889944GRCh37Chr 11, 76910816: 76910816
99MYO7ANM_000260.3(MYO7A): c.4821T> A (p.Tyr1607Ter)SNVPathogenicrs397516315GRCh37Chr 11, 76910832: 76910832
100MYO7ANM_000260.3(MYO7A): c.494C> T (p.Thr165Met)SNVPathogenicrs111033174GRCh37Chr 11, 76867729: 76867729
101MYO7ANM_000260.3(MYO7A): c.496delG (p.Glu166Argfs)deletionPathogenicrs111033448GRCh37Chr 11, 76867731: 76867731
102MYO7ANM_000260.3(MYO7A): c.5101C> T (p.Arg1701Ter)SNVPathogenicrs111033182GRCh37Chr 11, 76913402: 76913402
103MYO7ANM_000260.3(MYO7A): c.5208dupC (p.Lys1737Glnfs)duplicationLikely pathogenicrs111033276GRCh38Chr 11, 77203099: 77203099
104MYO7ANM_000260.3(MYO7A): c.5327-11A> GSNVLikely pathogenicrs397516316GRCh37Chr 11, 76915110: 76915110
105MYO7ANM_000260.3(MYO7A): c.5392C> T (p.Gln1798Ter)SNVPathogenicrs397516317GRCh37Chr 11, 76915186: 76915186
106MYO7ANM_000260.3(MYO7A): c.5573T> C (p.Leu1858Pro)SNVPathogenicrs368657015GRCh37Chr 11, 76916599: 76916599
107MYO7ANM_000260.3(MYO7A): c.5581dupC (p.Arg1861Profs)duplicationPathogenicrs397516320GRCh37Chr 11, 76916607: 76916607
108MYO7ANM_000260.3(MYO7A): c.5617C> T (p.Arg1873Trp)SNVPathogenicrs397516321GRCh37Chr 11, 76916643: 76916643
109MYO7ANM_000260.3(MYO7A): c.5618G> A (p.Arg1873Gln)SNVLikely pathogenicrs397516322GRCh38Chr 11, 77205599: 77205599
110MYO7ANM_000260.3(MYO7A): c.5648G> A (p.Arg1883Gln)SNVPathogenicrs111033215GRCh37Chr 11, 76917153: 76917153
111MYO7ANM_000260.3(MYO7A): c.5660C> T (p.Pro1887Leu)SNVPathogenicrs199606180GRCh37Chr 11, 76917165: 76917165
112MYO7ANM_000260.3(MYO7A): c.5804T> C (p.Leu1935Pro)SNVLikely pathogenicrs397516323GRCh37Chr 11, 76918395: 76918395
113MYO7ANM_000260.3(MYO7A): c.5824G> T (p.Gly1942Ter)SNVLikely pathogenic, Pathogenicrs111033192GRCh37Chr 11, 76918415: 76918415
114MYO7ANM_000260.3(MYO7A): c.582delC (p.Ile195Phefs)deletionPathogenicrs111033238GRCh37Chr 11, 76867817: 76867817
115MYO7ANM_000260.3(MYO7A): c.587T> C (p.Leu196Pro)SNVLikely pathogenicrs397516324GRCh37Chr 11, 76867822: 76867822
116MYO7ANM_000260.3(MYO7A): c.5886_5888delCTT (p.Phe1963del)deletionPathogenicrs111033232GRCh37Chr 11, 76919504: 76919506
117MYO7ANM_000260.3(MYO7A): c.5945G> A (p.Gly1982Glu)SNVLikely pathogenicrs111033250GRCh37Chr 11, 76919742: 76919742
118MYO7ANM_000260.3(MYO7A): c.6025delG (p.Ala2009Profs)deletionPathogenicrs397516326GRCh37Chr 11, 76919822: 76919822
119MYO7ANM_000260.3(MYO7A): c.6029A> G (p.Asp2010Gly)SNVPathogenicrs111033175GRCh37Chr 11, 76919826: 76919826
120MYO7ANM_000260.3(MYO7A): c.6070C> T (p.Arg2024Ter)SNVPathogenicrs111033198GRCh37Chr 11, 76922215: 76922215
121MYO7ANM_000260.3(MYO7A): c.631A> G (p.Ser211Gly)SNVLikely pathogenicrs111033486GRCh37Chr 11, 76867946: 76867946
122MYO7ANM_000260.3(MYO7A): c.640G> A (p.Gly214Arg)SNVPathogenicrs111033283GRCh37Chr 11, 76867955: 76867955
123MYO7ANM_000260.3(MYO7A): c.6439-2A> GSNVPathogenicrs397516330GRCh37Chr 11, 76924903: 76924903
124MYO7ANM_000260.3(MYO7A): c.6498C> A (p.Tyr2166Ter)SNVPathogenicrs397516331GRCh38Chr 11, 77213919: 77213919
125MYO7ANM_000260.3(MYO7A): c.6560G> A (p.Gly2187Asp)SNVLikely pathogenicrs397516332GRCh37Chr 11, 76925653: 76925653
126MYO7ANM_000260.3(MYO7A): c.722G> A (p.Arg241His)SNVLikely pathogenicrs111033284GRCh37Chr 11, 76868037: 76868037
127MYO7ANM_000260.3(MYO7A): c.999T> G (p.Tyr333Ter)SNVPathogenicrs111033285GRCh37Chr 11, 76869472: 76869472
128PCDH15NM_033056.3(PCDH15): c.16delT (p.Tyr6Ilefs)deletionPathogenicrs397517451GRCh37Chr 10, 56424007: 56424007
129PCDH15NM_033056.3(PCDH15): c.5601_5603delAAC (p.Thr1869del)deletionPathogenicrs113363047GRCh37Chr 10, 55581883: 55581885
130USH2ANM_206933.2(USH2A): c.3902G> T (p.Gly1301Val)SNVLikely pathogenicrs111033524GRCh37Chr 1, 216371836: 216371836
131CDH23NM_022124.5(CDH23): c.193delC (p.Leu65Trpfs)deletionPathogenicrs796051861GRCh37Chr 10, 73269886: 73269886
132CDH23NM_022124.5(CDH23): c.9565C> T (p.Arg3189Trp)SNVPathogenicrs121908353GRCh37Chr 10, 73572579: 73572579
133PCDH15NM_033056.3(PCDH15): c.733C> T (p.Arg245Ter)SNVPathogenicrs111033260GRCh37Chr 10, 56077174: 56077174
134USH1CNM_005709.3(USH1C): c.238dupC (p.Arg80Profs)duplicationPathogenicrs397515359GRCh37Chr 11, 17552956: 17552956
135USH1CNM_005709.3(USH1C): c.496+59_496+103[9]NT expansionPathogenicrs387906330GRCh37Chr 11, 17548667: 17548711
136USH1CNM_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:

idNameGO IDScoreTop Affiliating Genes
1microvillusGO:000590210.2MYO7A, USH1C
2photoreceptor connecting ciliumGO:003239110.1MYO7A, USH1G
3photoreceptor outer segmentGO:00017509.4CIB2, MYO7A, PCDH15, USH1C
4synapseGO:00452029.4MYO7A, PCDH15, USH1C
5stereociliumGO:00324208.7CDH23, CIB2, MYO7A, PCDH15, USH1C
6photoreceptor inner segmentGO:00019178.5CIB2, MYO7A, USH1C, USH1G

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1auditory receptor cell differentiationGO:004249110.4MYO7A, PCDH15
2auditory receptor cell stereocilium organizationGO:006008810.3MYO7A, PCDH15
3inner ear developmentGO:004883910.0MYO7A, PCDH15
4inner ear receptor cell differentiationGO:00601139.9MYO7A, USH1G
5inner ear morphogenesisGO:00424729.9MYO7A, USH1G
6locomotory behaviorGO:00076269.7CDH23, PCDH15
7visual perceptionGO:00076019.5CDH23, MYO7A, PCDH15
8inner ear receptor stereocilium organizationGO:00601229.2CDH23, MYO7A, PCDH15, USH1G
9sensory perception of light stimulusGO:00509539.0CDH23, MYO7A, PCDH15, USH1C, USH1G
10equilibrioceptionGO:00509579.0CDH23, MYO7A, PCDH15, USH1C, USH1G
11sensory perception of soundGO:00076058.7CDH23, MYO7A, PCDH15, USH1C, USH1G
12photoreceptor cell maintenanceGO:00454948.4CDH23, CIB2, 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:004748510.0MYO7A, PCDH15
2protein complex bindingGO:00324039.4CIB2, MYO7A, PCDH15
3spectrin bindingGO:00305079.2MYO7A, USH1C, USH1G

Sources for Usher Syndrome, Type 1b

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet