MCID: USH006
MIFTS: 49

Usher Syndrome, Type 1b malady

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

Aliases & Classifications for Usher Syndrome, Type 1b

About this section

Aliases & Descriptions for Usher Syndrome, Type 1b:

Name: Usher Syndrome, Type 1b 50 46 12
Ush1 46 23 52
Usher's Syndrome Type 1b 68 25
Usher Syndrome, Type 1e 46 12
Usher Syndrome Type 1e 23 25
Usher Syndrome Type 1 23 52
Usher Syndrome Type I 22 23
Ush1e 46 23
Ush1b 23 68
Retinitis Pigmentosa and Congenital Deafness 46
Usher Syndrome, Type I, French Variety 46
Usher Syndrome, Type Ie 66
 
Usher Syndrome, Type 1a 46
Usher Syndrome, Type Ib 66
Usher Syndrome, Type I 66
Usher Syndrome, Type 1 46
Usher Syndrome Type 1b 23
Usher Syndrome Type Ib 68
Usher Syndrome 1b 68
Ush 1b 23
Ushib 68
Ush1a 46
Ush 1 23
Us1 46

Characteristics:

Orphanet epidemiological data:

52
ush1:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal

HPO:

62
usher syndrome, type 1b:
Inheritance: autosomal recessive inheritance, heterogeneous
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 276900
Orphanet52 ORPHA231169
UMLS via Orphanet67 C0339533
ICD10 via Orphanet29 H35.5
MeSH37 D052245

Summaries for Usher Syndrome, Type 1b

About this section
OMIM:50 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, 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 hearing/vestibular/ear and vision/eye.

NIH Rare Diseases:46 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:68 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.

Related Diseases for Usher Syndrome, Type 1b

About this section

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 21)
idRelated DiseaseScoreTop Affiliating Genes
1usher syndrome, type 1c11.4
2usher syndrome10.5
3vapb-related amyotrophic lateral sclerosis10.2CIB2, MYO7A
4continuous spike-wave during slow sleep syndrome10.1MYO7A, PCDH15
5ovarian embryonal carcinoma10.1MYO7A, PCDH15
6deafness, autosomal recessive10.0CIB2, USH1C
7retinitis10.0
8herpes simplex10.0
9deafness, autosomal recessive 18a9.8MYO7A, USH1C, USH1G
10porokeratosis 9, multiple types9.8MYO7A, PCDH15
11deafness, autosomal recessive 129.8CDH23, PCDH15, USH1C
12hyperimmunoglobulin syndrome9.8CDH23, MYO7A, USH1C
13deafness, autosomal recessive 239.5MYO7A, PCDH15, USH1C, USH1G
14pyelitis9.5CDH23, MYO7A, PCDH15, USH1C
15autosomal recessive nonsyndromic deafness9.5CDH23, CIB2, MYO7A, PCDH15
16telogen effluvium9.4CDH23, MYO7A, PCDH15, USH1C
17localized lichen myxedematosus with mixed features of different subtypes9.2CDH23, CIB2, MYO7A, PCDH15, USH1C
18pierre robin syndrome9.0CDH23, MYO7A, PCDH15, USH1C, USH1G
19x-linked hypophosphatemic rickets8.7CDH23, CIB2, MYO7A, PCDH15, USH1C, USH1G
20scar contracture8.6CDH23, CIB2, MYO7A, PCDH15, USH1C, USH1G
21deafness, autosomal recessive 26.9CDH23, 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

About this section

Symptoms by clinical synopsis from OMIM:

276900

Clinical features from OMIM:

276900

Symptoms:

 52 (show all 22)
  • abnormality of cochlea
  • sensorineural hearing impairment
  • abnormal electroretinogram
  • cataract
  • visual loss
  • scotoma
  • night blindness
  • abnormality of dental enamel
  • depression
  • hallucinations
  • anxiety
  • intellectual disability
  • ataxia
  • global developmental delay
  • vestibular hypofunction
  • cerebral cortical atrophy
  • aplasia/hypoplasia of the cerebellum
  • iris hypopigmentation
  • high-grade hypermetropia
  • subcortical cerebral atrophy
  • hemianopsia
  • schizophrenia

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

(show all 22)
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 sensorineural hearing impairment HP:0000407
16 rod-cone dystrophy HP:0000510
17 undetectable electroretinogram HP:0000550
18 visual loss HP:0000572
19 motor delay HP:0001270
20 absent vestibular function HP:0008555
21 congenital sensorineural hearing impairment HP:0008527
22 vestibular areflexia HP:0008568

UMLS symptoms related to Usher Syndrome, Type 1b:


unspecified visual loss

Drugs & Therapeutics for Usher Syndrome, Type 1b

About this section

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

About this section

Genetic tests related to Usher Syndrome, Type 1b:

id Genetic test Affiliating Genes
1 Usher Syndrome, Type 125
2 Usher Syndrome, Type 1b25
3 Usher Syndrome, Type 1e25
4 Usher Syndrome Type I23 USH1H
5 Usher Syndrome Type 1b23 MYO7A
6 Usher Syndrome Type 1e23

Anatomical Context for Usher Syndrome, Type 1b

About this section

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

34
Eye, Cerebellum, Retina

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

About this section

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

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.3CDH23, CIB2, MYO7A, PCDH15, USH1C, USH1G
2MP:00053918.0CDH23, MYO7A, PCDH15, USH1C, USH1G
3MP:00053868.0CDH23, CIB2, MYO7A, PCDH15, USH1C, USH1G
4MP:00036317.9CDH23, CIB2, MYO7A, PCDH15, USH1C, USH1G

Publications for Usher Syndrome, Type 1b

About this section

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

About this section

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

68 (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 132)
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
7MYO7ANM_000260.3(MYO7A): c.973_976delATCC (p.Ile325Cysfs)deletionPathogenicrs797044490GRCh37Chr 11, 76869446: 76869449
8MYO7ANM_000260.3(MYO7A): c.977T> A (p.Leu326Gln)single nucleotide variantLikely pathogenicrs797044491GRCh38Chr 11, 77158404: 77158404
9MYO7ANM_000260.3(MYO7A): c.3892G> A (p.Gly1298Arg)single nucleotide variantLikely pathogenicrs727503329GRCh37Chr 11, 76901883: 76901883
10MYO7ANM_000260.3(MYO7A): c.6326C> T (p.Thr2109Ile)single nucleotide variantLikely pathogenicrs377670513GRCh37Chr 11, 76922954: 76922954
11MYO7ANM_000260.3(MYO7A): c.470+1G> Asingle nucleotide variantPathogenicrs797044510GRCh37Chr 11, 76867138: 76867138
12MYO7ANM_000260.3(MYO7A): c.73G> A (p.Gly25Arg)single nucleotide variantLikely pathogenicrs782252317GRCh38Chr 11, 77142763: 77142763
13MYO7ANM_000260.3(MYO7A): c.77C> A (p.Ala26Glu)single nucleotide variantLikely pathogenicrs369125667GRCh37Chr 11, 76853813: 76853813
14MYO7ANM_000260.3(MYO7A): c.2863G> A (p.Gly955Ser)single nucleotide variantLikely pathogenicrs781988557GRCh37Chr 11, 76892594: 76892594
15MYO7ANM_000260.3(MYO7A)duplicationLikely pathogenicrs111033388GRCh37Chr 11, 76925707: 76925727
16MYO7ANM_000260.3(MYO7A): c.3827C> T (p.Ser1276Leu)single nucleotide variantLikely pathogenicrs369458838GRCh37Chr 11, 76901818: 76901818
17MYO7ANM_000260.3(MYO7A): c.5899C> T (p.Arg1967Ter)single nucleotide variantLikely pathogenic, Pathogenicrs376764423GRCh37Chr 11, 76919517: 76919517
18MYO7ANM_000260.3(MYO7A): c.1208A> G (p.Tyr403Cys)single nucleotide variantLikely pathogenicrs797044511GRCh37Chr 11, 76872026: 76872026
19MYO7ANM_000260.3(MYO7A): c.5464A> C (p.Thr1822Pro)single nucleotide variantLikely pathogenicrs727504541GRCh37Chr 11, 76915258: 76915258
20MYO7ANM_000260.3(MYO7A): c.689C> T (p.Ala230Val)single nucleotide variantPathogenicrs797044512GRCh37Chr 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)single nucleotide variantLikely pathogenicrs797044518GRCh37Chr 11, 76841681: 76841681
24MYO7ANM_000260.3(MYO7A): c.6231dupG (p.Lys2078Glufs)duplicationPathogenicrs730880367GRCh38Chr 11, 77211331: 77211331
25MYO7ANM_000260.3(MYO7A): c.287C> T (p.Thr96Met)single nucleotide variantLikely pathogenicrs781811444GRCh37Chr 11, 76866954: 76866954
26MYO7ANM_000260.3(MYO7A): c.5968C> T (p.Gln1990Ter)single nucleotide variantPathogenicrs773844428GRCh37Chr 11, 76919765: 76919765
27MYO7ANM_000260.3(MYO7A): c.4115T> G (p.Val1372Gly)single nucleotide variantLikely pathogenicrs869312181GRCh37Chr 11, 76903286: 76903286
28MYO7ANM_000260.3(MYO7A): c.223delG (p.Asp75ThrfsTer31)deletionPathogenicrs876657415GRCh37Chr 11, 76858934: 76858934
29MYO7ANM_000260.3(MYO7A): c.1952T> C (p.Leu651Pro)single nucleotide variantPathogenicrs876657416GRCh37Chr 11, 76885818: 76885818
30MYO7ANM_000260.3(MYO7A): c.2311G> T (p.Ala771Ser)single nucleotide variantPathogenicrs782384464GRCh37Chr 11, 76890119: 76890119
31MYO7ANM_000260.3(MYO7A): c.6557T> C (p.Leu2186Pro)single nucleotide variantLikely pathogenicrs876657417GRCh37Chr 11, 76925023: 76925023
32MYO7ANP_000251.3: p.Tyr1302fsTer97protein onlyPathogenic
33USH1CNP_005700.2: p.Arg357Trpprotein onlyLikely pathogenic
34CDH23NM_022124.5(CDH23): c.9127C> T (p.Arg3043Trp)single nucleotide variantLikely pathogenicrs375907609GRCh37Chr 10, 73571121: 73571121
35PCDH15NM_033056.3(PCDH15): c.158-1G> Asingle nucleotide variantPathogenicrs876657418GRCh37Chr 10, 56138703: 56138703
36NM_173477.4(USH1G): c.46C> G (p.Leu16Val)single nucleotide variantLikely pathogenicrs876657419GRCh38Chr 17, 74923028: 74923028
37USH2Aundetermined variantLikely pathogenic
38USH2Aundetermined variantLikely pathogenic
39ADGRV1undetermined variantLikely pathogenic
40ADGRV1undetermined variantLikely pathogenic
41MYO7ANM_000260.3(MYO7A): c.1619C> A (p.Pro540His)single nucleotide variantLikely pathogenicrs782607566GRCh38Chr 11, 77162917: 77162917
42MYO7ANM_000260.3(MYO7A): c.2904G> A (p.Glu968=)single nucleotide variantLikely pathogenicrs111033233GRCh37Chr 11, 76892635: 76892635
43MYO7ANM_000260.3(MYO7A): c.314T> G (p.Val105Gly)single nucleotide variantLikely pathogenicrs876657654GRCh37Chr 11, 76866981: 76866981
44MYO7ANM_000260.3(MYO7A): c.6062A> G (p.Lys2021Arg)single nucleotide variantLikely pathogenicrs876657655GRCh38Chr 11, 77211162: 77211162
45MYO7ANM_000260.3(MYO7A): c.2115C> A (p.Cys705Ter)single nucleotide variantPathogenicrs782255281GRCh37Chr 11, 76886438: 76886438
46MYO7ANM_000260.3(MYO7A): c.3591_3592delCT (p.Cys1198Argfs)deletionLikely pathogenic, Pathogenicrs797044564GRCh37Chr 11, 76900476: 76900477
47MYO7ANM_000260.3(MYO7A): c.4555delG (p.Val1519Cysfs)deletionPathogenicrs876657712GRCh37Chr 11, 76909653: 76909653
48MYO7ANM_000260.3(MYO7A): c.5845_5855delATTGCAGACAA (p.Ile1949Glyfs)deletionPathogenicrs876657713GRCh37Chr 11, 76918436: 76918446
49USH1GNM_173477.4(USH1G): c.832_851del20 (p.Ser278Profs)deletionPathogenicrs397515345GRCh37Chr 17, 72916080: 72916099
50USH1GNM_173477.4(USH1G): c.394dupG (p.Val132Glyfs)duplicationPathogenicGRCh37Chr 17, 72916537: 72916537
51MYO7ANM_000260.3(MYO7A): c.652G> A (p.Asp218Asn)single nucleotide variantLikely pathogenic, Pathogenicrs201539845GRCh37Chr 11, 76867967: 76867967
52CIB2NM_006383.3(CIB2): c.192G> C (p.Glu64Asp)single nucleotide variantPathogenicrs145415848GRCh37Chr 15, 78403513: 78403513
53MYO7ANM_000260.3(MYO7A): c.1097T> C (p.Leu366Pro)single nucleotide variantLikely pathogenicrs397516281GRCh37Chr 11, 76871225: 76871225
54MYO7ANM_000260.3(MYO7A): c.1200+1G> Asingle nucleotide variantPathogenicrs397516283GRCh37Chr 11, 76871329: 76871329
55MYO7ANM_000260.3(MYO7A): c.132+5G> Asingle nucleotide variantLikely pathogenicrs397516284GRCh37Chr 11, 76853873: 76853873
56MYO7ANM_000260.3(MYO7A): c.1344-2A> Gsingle nucleotide variantPathogenicrs111033415GRCh37Chr 11, 76873164: 76873164
57MYO7ANM_000260.3(MYO7A): c.1370C> T (p.Ala457Val)single nucleotide variantLikely pathogenicrs111033286GRCh37Chr 11, 76873192: 76873192
58MYO7ANM_000260.3(MYO7A): c.1401_1403dupGCA (p.Arg467_His468insGln)duplicationLikely pathogenicrs111033219GRCh37Chr 11, 76873223: 76873225
59MYO7ANM_000260.3(MYO7A): c.141G> A (p.Trp47Ter)single nucleotide variantPathogenicrs397516285GRCh37Chr 11, 76858852: 76858852
60MYO7ANM_000260.3(MYO7A): c.1556G> A (p.Gly519Asp)single nucleotide variantPathogenicrs111033206GRCh37Chr 11, 76873900: 76873900
61MYO7ANM_000260.3(MYO7A): c.1556delG (p.Gly519Alafs)deletionPathogenicrs111033206GRCh37Chr 11, 76873900: 76873900
62MYO7ANM_000260.3(MYO7A): c.1690+1G> Asingle nucleotide variantLikely pathogenicrs111033389GRCh37Chr 11, 76874035: 76874035
63MYO7ANM_000260.3(MYO7A): c.1833_1838dupCAGCCA (p.Ser612_Gln613insHisSer)duplicationLikely pathogenicrs397516290GRCh37Chr 11, 76883829: 76883834
64MYO7ANM_000260.3(MYO7A): c.19-1G> Asingle nucleotide variantLikely pathogenicrs111033426GRCh37Chr 11, 76853754: 76853754
65MYO7ANM_000260.3(MYO7A): c.1900C> T (p.Arg634Ter)single nucleotide variantPathogenicrs111033180GRCh37Chr 11, 76883896: 76883896
66MYO7ANM_000260.3(MYO7A): c.1952_1953insAG (p.Cys652Glyfs)insertionLikely pathogenicrs111033510GRCh37Chr 11, 76885818: 76885819
67MYO7ANM_000260.3(MYO7A): c.1963C> T (p.Gln655Ter)single nucleotide variantPathogenicrs397516291GRCh37Chr 11, 76885829: 76885829
68MYO7ANM_000260.3(MYO7A): c.2005C> T (p.Arg669Ter)single nucleotide variantPathogenicrs111033201GRCh37Chr 11, 76885871: 76885871
69MYO7ANM_000260.3(MYO7A): c.2094+1G> Asingle nucleotide variantPathogenicrs111033404GRCh37Chr 11, 76885961: 76885961
70MYO7ANM_000260.3(MYO7A): c.2094+1G> Csingle nucleotide variantLikely pathogenicrs111033404GRCh37Chr 11, 76885961: 76885961
71MYO7ANM_000260.3(MYO7A): c.2172delC (p.Lys725Argfs)deletionPathogenicrs397516294GRCh37Chr 11, 76886495: 76886495
72MYO7ANM_000260.3(MYO7A): c.2187+1G> Asingle nucleotide variantLikely pathogenicrs111033290GRCh37Chr 11, 76886511: 76886511
73MYO7ANM_000260.3(MYO7A): c.2283-1G> T (p.Ser762CysfsTer61)single nucleotide variantPathogenicrs397516295GRCh37Chr 11, 76890090: 76890090
74MYO7ANM_000260.3(MYO7A): c.2904G> T (p.Glu968Asp)single nucleotide variantPathogenicrs111033233GRCh37Chr 11, 76892635: 76892635
75MYO7ANM_000260.3(MYO7A): c.3327delC (p.His1109Glnfs)deletionPathogenicrs111033433GRCh37Chr 11, 76894154: 76894154
76MYO7ANM_000260.3(MYO7A): c.3476G> T (p.Gly1159Val)single nucleotide variantLikely pathogenicrs199897298GRCh37Chr 11, 76895733: 76895733
77MYO7ANM_000260.3(MYO7A): c.3508G> A (p.Glu1170Lys)single nucleotide variantPathogenicrs111033214GRCh37Chr 11, 76900393: 76900393
78MYO7ANM_000260.3(MYO7A): c.3532delC (p.Gln1178Serfs)deletionLikely pathogenicrs111033239GRCh37Chr 11, 76900417: 76900417
79MYO7ANM_000260.3(MYO7A): c.3533A> C (p.Gln1178Pro)single nucleotide variantLikely pathogenicrs111033482GRCh37Chr 11, 76900418: 76900418
80MYO7ANM_000260.3(MYO7A): c.3543_3544dupCA (p.Asn1182Thrfs)duplicationLikely pathogenicrs111033390GRCh37Chr 11, 76900428: 76900429
81MYO7ANM_000260.3(MYO7A): c.3572G> A (p.Gly1191Asp)single nucleotide variantLikely pathogenicrs397516301GRCh37Chr 11, 76900457: 76900457
82MYO7ANM_000260.3(MYO7A): c.3696_3706delAAGGACCTTTG (p.Arg1232Serfs)deletionPathogenicrs397516303GRCh37Chr 11, 76901130: 76901140
83MYO7ANM_000260.3(MYO7A): c.3719G> A (p.Arg1240Gln)single nucleotide variantPathogenicrs111033178GRCh37Chr 11, 76901153: 76901153
84MYO7ANM_000260.3(MYO7A): c.3728dupC (p.Pro1244Alafs)duplicationPathogenicrs397516304GRCh37Chr 11, 76901162: 76901162
85MYO7ANM_000260.3(MYO7A): c.3764delA (p.Lys1255Argfs)deletionPathogenicrs111033347GRCh37Chr 11, 76901755: 76901755
86MYO7ANM_000260.3(MYO7A): c.397C> T (p.His133Tyr)single nucleotide variantLikely pathogenicrs111033403GRCh37Chr 11, 76867064: 76867064
87MYO7ANM_000260.3(MYO7A): c.397dupC (p.His133Profs)duplicationLikely pathogenicrs111033187GRCh37Chr 11, 76867064: 76867064
88MYO7ANM_000260.3(MYO7A): c.401T> A (p.Ile134Asn)single nucleotide variantLikely pathogenicrs111033181GRCh37Chr 11, 76867068: 76867068
89MYO7ANM_000260.3(MYO7A): c.4065delC (p.His1355Glnfs)deletionLikely pathogenicrs111033202GRCh37Chr 11, 76903236: 76903236
90MYO7ANM_000260.3(MYO7A): c.4293G> A (p.Trp1431Ter)single nucleotide variantPathogenicrs397516308GRCh37Chr 11, 76905539: 76905539
91MYO7ANM_000260.3(MYO7A): c.4411T> C (p.Ser1471Pro)single nucleotide variantLikely pathogenicrs397516310GRCh37Chr 11, 76908613: 76908613
92MYO7ANM_000260.3(MYO7A): c.4442-2A> Csingle nucleotide variantLikely pathogenicrs111033337GRCh37Chr 11, 76909538: 76909538
93MYO7ANM_000260.3(MYO7A): c.4544_4551delAGATCATGinsCA (p.Glu1515_Met1517delinsAla)indelPathogenicrs111033259GRCh37Chr 11, 76909642: 76909649
94MYO7ANM_000260.3(MYO7A): c.458G> A (p.Cys153Tyr)single nucleotide variantLikely pathogenicrs397516312GRCh37Chr 11, 76867125: 76867125
95MYO7ANM_000260.3(MYO7A): c.4805G> A (p.Arg1602Gln)single nucleotide variantPathogenicrs139889944GRCh37Chr 11, 76910816: 76910816
96MYO7ANM_000260.3(MYO7A): c.4821T> A (p.Tyr1607Ter)single nucleotide variantPathogenicrs397516315GRCh37Chr 11, 76910832: 76910832
97MYO7ANM_000260.3(MYO7A): c.494C> T (p.Thr165Met)single nucleotide variantPathogenicrs111033174GRCh37Chr 11, 76867729: 76867729
98MYO7ANM_000260.3(MYO7A): c.496delG (p.Glu166Argfs)deletionPathogenicrs111033448GRCh37Chr 11, 76867731: 76867731
99MYO7ANM_000260.3(MYO7A): c.5101C> T (p.Arg1701Ter)single nucleotide variantPathogenicrs111033182GRCh37Chr 11, 76913402: 76913402
100MYO7ANM_000260.3(MYO7A): c.5208dupC (p.Lys1737Glnfs)duplicationLikely pathogenicrs111033276GRCh37Chr 11, 76914144: 76914144
101MYO7ANM_000260.3(MYO7A): c.5327-11A> Gsingle nucleotide variantLikely pathogenicrs397516316GRCh37Chr 11, 76915110: 76915110
102MYO7ANM_000260.3(MYO7A): c.5392C> T (p.Gln1798Ter)single nucleotide variantPathogenicrs397516317GRCh37Chr 11, 76915186: 76915186
103MYO7ANM_000260.3(MYO7A): c.5573T> C (p.Leu1858Pro)single nucleotide variantPathogenicrs368657015GRCh37Chr 11, 76916599: 76916599
104MYO7ANM_000260.3(MYO7A): c.5581dupC (p.Arg1861Profs)duplicationPathogenicrs397516320GRCh37Chr 11, 76916607: 76916607
105MYO7ANM_000260.3(MYO7A): c.5617C> T (p.Arg1873Trp)single nucleotide variantPathogenicrs397516321GRCh37Chr 11, 76916643: 76916643
106MYO7ANM_000260.3(MYO7A): c.5618G> A (p.Arg1873Gln)single nucleotide variantLikely pathogenicrs397516322GRCh37Chr 11, 76916644: 76916644
107MYO7ANM_000260.3(MYO7A): c.5648G> A (p.Arg1883Gln)single nucleotide variantPathogenicrs111033215GRCh37Chr 11, 76917153: 76917153
108MYO7ANM_000260.3(MYO7A): c.5660C> T (p.Pro1887Leu)single nucleotide variantPathogenicrs199606180GRCh37Chr 11, 76917165: 76917165
109MYO7ANM_000260.3(MYO7A): c.5804T> C (p.Leu1935Pro)single nucleotide variantLikely pathogenicrs397516323GRCh37Chr 11, 76918395: 76918395
110MYO7ANM_000260.3(MYO7A): c.5824G> T (p.Gly1942Ter)single nucleotide variantPathogenicrs111033192GRCh37Chr 11, 76918415: 76918415
111MYO7ANM_000260.3(MYO7A): c.582delC (p.Ile195Phefs)deletionPathogenicrs111033238GRCh37Chr 11, 76867817: 76867817
112MYO7ANM_000260.3(MYO7A): c.587T> C (p.Leu196Pro)single nucleotide variantLikely pathogenicrs397516324GRCh37Chr 11, 76867822: 76867822
113MYO7ANM_000260.3(MYO7A): c.5886_5888delCTT (p.Phe1963del)deletionPathogenicrs111033232GRCh37Chr 11, 76919504: 76919506
114MYO7ANM_000260.3(MYO7A): c.5945G> A (p.Gly1982Glu)single nucleotide variantLikely pathogenicrs111033250GRCh37Chr 11, 76919742: 76919742
115MYO7ANM_000260.3(MYO7A): c.6025delG (p.Ala2009Profs)deletionPathogenicrs397516326GRCh37Chr 11, 76919822: 76919822
116MYO7ANM_000260.3(MYO7A): c.6029A> G (p.Asp2010Gly)single nucleotide variantPathogenicrs111033175GRCh37Chr 11, 76919826: 76919826
117MYO7ANM_000260.3(MYO7A): c.6070C> T (p.Arg2024Ter)single nucleotide variantPathogenicrs111033198GRCh37Chr 11, 76922215: 76922215
118MYO7ANM_000260.3(MYO7A): c.631A> G (p.Ser211Gly)single nucleotide variantLikely pathogenicrs111033486GRCh37Chr 11, 76867946: 76867946
119MYO7ANM_000260.3(MYO7A): c.640G> A (p.Gly214Arg)single nucleotide variantPathogenicrs111033283GRCh37Chr 11, 76867955: 76867955
120MYO7ANM_000260.3(MYO7A): c.6439-2A> Gsingle nucleotide variantPathogenicrs397516330GRCh37Chr 11, 76924903: 76924903
121MYO7ANM_000260.3(MYO7A): c.6498C> A (p.Tyr2166Ter)single nucleotide variantPathogenicrs397516331GRCh37Chr 11, 76924964: 76924964
122MYO7ANM_000260.3(MYO7A): c.6560G> A (p.Gly2187Asp)single nucleotide variantLikely pathogenicrs397516332GRCh37Chr 11, 76925653: 76925653
123MYO7ANM_000260.3(MYO7A): c.722G> A (p.Arg241His)single nucleotide variantLikely pathogenicrs111033284GRCh37Chr 11, 76868037: 76868037
124MYO7ANM_000260.3(MYO7A): c.999T> G (p.Tyr333Ter)single nucleotide variantPathogenicrs111033285GRCh37Chr 11, 76869472: 76869472
125PCDH15NM_033056.3(PCDH15): c.16delT (p.Tyr6Ilefs)deletionPathogenicrs397517451GRCh37Chr 10, 56424007: 56424007
126PCDH15NM_033056.3(PCDH15): c.5601_5603delAAC (p.Thr1869del)deletionPathogenicrs113363047GRCh37Chr 10, 55581883: 55581885
127NM_022124.5(CDH23): c.193delC (p.Leu65Trpfs)deletionPathogenicrs796051861GRCh37Chr 10, 73269886: 73269886
128CDH23NM_022124.5(CDH23): c.9565C> T (p.Arg3189Trp)single nucleotide variantPathogenicrs121908353GRCh37Chr 10, 73572579: 73572579
129PCDH15NM_033056.3(PCDH15): c.733C> T (p.Arg245Ter)single nucleotide variantPathogenicrs111033260GRCh37Chr 10, 56077174: 56077174
130USH1CNM_005709.3(USH1C): c.238dupC (p.Arg80Profs)duplicationPathogenicrs397515359GRCh37Chr 11, 17552956: 17552956
131USH1CNM_005709.3(USH1C): c.496+59_496+103[9]NT expansionPathogenicrs387906330GRCh37Chr 11, 17548667: 17548711
132USH1CNM_005709.3(USH1C): c.216G> A (p.Val72=)single nucleotide variantPathogenicrs151045328GRCh37Chr 11, 17552978: 17552978

Expression for genes affiliated with Usher Syndrome, Type 1b

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

Pathways for genes affiliated with Usher Syndrome, Type 1b

About this section

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

About this section

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

idNameGO IDScoreTop Affiliating Genes
1microvillusGO:000590210.1MYO7A, USH1C
2photoreceptor connecting ciliumGO:003239110.1MYO7A, USH1G
3photoreceptor outer segmentGO:00017509.5CIB2, MYO7A, PCDH15, USH1C
4synapseGO:00452029.1MYO7A, PCDH15, USH1C
5photoreceptor inner segmentGO:00019178.9CIB2, MYO7A, USH1C, USH1G
6stereociliumGO:00324208.7CDH23, CIB2, MYO7A, PCDH15, USH1C

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:004249110.3MYO7A, PCDH15
2auditory receptor cell stereocilium organizationGO:006008810.2MYO7A, PCDH15
3inner ear developmentGO:004883910.0MYO7A, PCDH15
4inner ear receptor cell differentiationGO:00601139.9MYO7A, USH1G
5inner ear morphogenesisGO:00424729.8MYO7A, USH1G
6locomotory behaviorGO:00076269.5CDH23, PCDH15
7visual perceptionGO:00076019.1CDH23, MYO7A, PCDH15
8inner ear receptor stereocilium organizationGO:00601229.1CDH23, MYO7A, PCDH15, USH1G
9sensory perception of light stimulusGO:00509538.8CDH23, MYO7A, PCDH15, USH1C, USH1G
10equilibrioceptionGO:00509578.8CDH23, MYO7A, PCDH15, USH1C, USH1G
11sensory perception of soundGO:00076058.5CDH23, MYO7A, PCDH15, USH1C, USH1G
12photoreceptor cell maintenanceGO:00454948.0CDH23, 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
2spectrin bindingGO:00305079.4MYO7A, USH1C, USH1G
3protein complex bindingGO:00324039.4CIB2, MYO7A, PCDH15

Sources for Usher Syndrome, Type 1b

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet