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

Aliases & Descriptions for Usher Syndrome, Type 1b:

Name: Usher Syndrome, Type 1b 54 50 13
Ush1 12 23 50 24 56
Usher Syndrome Type 1 12 24 56 14
Usher Syndrome, Type 1e 50 29 13
Usher Syndrome Type 1e 12 24 14
Ush1e 12 50 24
Usher's Syndrome Type 1b 66 29
Usher Syndrome Type I 23 24
Ush1b 24 66
Us1 12 50
Retinitis Pigmentosa and Congenital Deafness 50
Usher Syndrome, Type I, French Variety 50
Usher Syndrome, Type 1a 50
Usher Syndrome, Type Ie 69
Usher Syndrome, Type Ib 69
Usher Syndrome Type Ie 12
Usher Syndrome, Type 1 50
Usher Syndrome Type 1b 24
Usher Syndrome Type Ib 66
Usher Syndrome, Type I 69
Usher Syndrome 1b 66
Ush 1b 24
Ush1a 50
Ush 1 24
Ushib 66

Characteristics:

Orphanet epidemiological data:

56
usher syndrome type 1
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

GeneReviews:

23
usher syndrome, type 1b:
Inheritance autosomal recessive inheritance heterogeneous


GeneReviews:

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

Classifications:



External Ids:

OMIM 54 276900
Disease Ontology 12 DOID:0110826 DOID:0110833
ICD10 33 H35.5
Orphanet 56 ORPHA231169
UMLS via Orphanet 70 C0339533
ICD10 via Orphanet 34 H35.5
MeSH 42 D052245
UMLS 69 C0339533

Summaries for Usher Syndrome, Type 1b

OMIM : 54 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 ataxia, depression and intellectual disability. An important gene associated with Usher Syndrome, Type 1b is MYO7A (Myosin VIIA). Affiliated tissues include retina, eye and cerebellum, and related phenotypes are behavior/neurological and hearing/vestibular/ear

Disease Ontology : 12 An Usher syndrome characterized by profound congenital deafness, vestibular dysfunction and early development of retinitis pigmentosa.

NIH Rare Diseases : 50 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 : 66 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: NBK1265

Related Diseases for Usher Syndrome, Type 1b

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)
id Related Disease Score Top Affiliating Genes
1 usher syndrome, type 1f 31.7 ADGRV1 CDH23 MYO7A PCDH15 USH1C USH1G
2 usher syndrome, type 1d 11.1
3 usher syndrome, type 1c 11.1
4 usher syndrome, type ij 11.1
5 usher syndrome, type 1g 11.1
6 usher syndrome type 1h 10.9
7 usher syndrome, type 2a 10.9
8 usher syndrome, type 3a 10.9
9 usher syndrome, type 2c 10.9
10 usher syndrome type 3b 10.9
11 usher syndrome, type 2d 10.9
12 usher syndrome, type ik 10.9
13 usher syndrome 10.4
14 corneal dystrophy, fuchs endothelial, 6 10.3 PCDH15 USH1K
15 charcot-marie-tooth disease, type 1d 10.3 CDH23 MYO7A PCDH15
16 cardiomyopathy, dilated, 1kk 10.3 MYO7A PCDH15 USH1C USH1G
17 deafness, autosomal recessive 23 10.3 CDH23 MYO7A PCDH15 USH1C
18 sjogren-larsson syndrome 10.3 CDH23 MYO7A
19 46xy partial gonadal dysgenesis, with minifascicular neuropathy 10.3 CIB2 MYO7A
20 rhizomelic chondrodysplasia punctata type 5 10.2 ADGRV1 CLRN1 MYO7A
21 fanconi anemia, complementation group f 10.2 CDH23 MYO7A USH1C USH1G
22 narcissistic personality disorder 10.2 CDH23 MYO7A PCDH15 USH1C
23 pnpla6-related disorders 10.2 CLRN1 USH2A
24 pierre robin syndrome 10.2 CDH23 MYO7A PCDH15 USH1C USH1G
25 robinow syndrome, autosomal dominant 1 10.2 ADGRV1 GSK3B MYO7A USH2A
26 obesity susceptibility, adrb3-related 10.2 CDH23 MYO7A USH1C USH2A
27 retinitis pigmentosa 39 10.2 GSK3B USH1C USH2A WHRN
28 adult liposarcoma 10.2 MYO7A PCDH15 USH2A
29 trichomoniasis 10.1 CDH23 MYO7A PCDH15 USH1C USH2A
30 manitoba oculotrichoanal syndrome 10.1 CDH23 MYO7A
31 mitochondrial non-syndromic sensorineural deafness 10.1 CDH23 CIB2 MYO7A PCDH15 USH1C WHRN
32 x-linked nonsyndromic deafness 10.1 CDH23 CIB2 MYO7A PCDH15 USH2A WHRN
33 dyskeratosis congenita, autosomal dominant 1 10.0 ADGRV1 CDH23 CLRN1 MYO7A PCDH15 USH1C
34 46xy sex reversal 3 10.0 ADGRV1 CDH23 MYO7A PCDH15 USH1C USH1G
35 peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads 9.9 ADGRV1 CDH23 CLRN1 MYO7A PCDH15 USH1C
36 retinitis 9.9
37 lissencephaly 9.9 ADGRV1 CDH23 CIB2 CLRN1 MYO7A PCDH15
38 herpes simplex 9.9
39 xeroderma pigmentosum group e 9.8 ADGRV1 CDH23 CIB2 CLRN1 GSK3B MYO7A
40 sertoli cell-only syndrome 9.8 ADGRV1 CDH23 CIB2 CLRN1 IMPDH1 MYO7A
41 deafness, autosomal dominant 11 9.1 ADGRV1 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

Symptoms by clinical synopsis from OMIM:

276900

Clinical features from OMIM:

276900

Human phenotypes related to Usher Syndrome, Type 1b:

56 32 (show all 30)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 56 32 Very frequent (99-80%) HP:0001251
2 depression 56 32 Occasional (29-5%) HP:0000716
3 intellectual disability 56 32 Very frequent (99-80%) HP:0001249
4 cataract 56 32 Frequent (79-30%) HP:0000518
5 hallucinations 56 32 Occasional (29-5%) HP:0000738
6 global developmental delay 56 32 Very frequent (99-80%) HP:0001263
7 sensorineural hearing impairment 56 32 Very frequent (99-80%) HP:0000407
8 abnormal electroretinogram 56 32 Very frequent (99-80%) HP:0000512
9 anxiety 56 32 Occasional (29-5%) HP:0000739
10 cerebral cortical atrophy 56 32 Occasional (29-5%) HP:0002120
11 aplasia/hypoplasia of the cerebellum 56 32 Frequent (79-30%) HP:0007360
12 visual loss 56 32 Very frequent (99-80%) HP:0000572
13 abnormality of dental enamel 56 32 Occasional (29-5%) HP:0000682
14 schizophrenia 56 32 Frequent (79-30%) HP:0100753
15 high-grade hypermetropia 56 32 Frequent (79-30%) HP:0008499
16 abnormality of cochlea 56 32 Very frequent (99-80%) HP:0000375
17 iris hypopigmentation 56 32 Very frequent (99-80%) HP:0007730
18 subcortical cerebral atrophy 56 32 Occasional (29-5%) HP:0012157
19 scotoma 56 32 Very frequent (99-80%) HP:0000575
20 vestibular hypofunction 56 32 Very frequent (99-80%) HP:0001756
21 night blindness 56 Very frequent (99-80%)
22 hemianopsia 56 Very frequent (99-80%)
23 congenital sensorineural hearing impairment 32 HP:0008527
24 motor delay 32 HP:0001270
25 rod-cone dystrophy 32 HP:0000510
26 vestibular areflexia 32 HP:0008568
27 nyctalopia 32 HP:0000662
28 undetectable electroretinogram 32 HP:0000550
29 hemianopia 32 HP:0012377
30 absent vestibular function 32 HP:0008555

UMLS symptoms related to Usher Syndrome, Type 1b:


unspecified visual loss

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

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.03 WDR81 WHRN ADGRV1 CDH23 CIB2 CLRN1
2 hearing/vestibular/ear MP:0005377 9.85 CIB2 CLRN1 MYO7A PCDH15 USH1C USH1G
3 nervous system MP:0003631 9.73 ADGRV1 CDH23 CIB2 CLRN1 GSK3B MYO7A
4 vision/eye MP:0005391 9.32 ADGRV1 CDH23 CLRN1 MYO7A PCDH15 USH1C

Drugs & Therapeutics for Usher Syndrome, Type 1b

Interventional clinical trials:


id Name Status NCT ID Phase
1 Study of UshStat in Patients With Retinitis Pigmentosa Associated With Usher Syndrome Type 1B Recruiting NCT01505062 Phase 1, Phase 2
2 Retinal Imaging of Subjects Implanted With Ciliary Neurotrophic Factor (CNTF)-Releasing Encapsulated Cell Implant for Early-stage Retinitis Pigmentosa Active, not recruiting NCT01530659 Phase 2
3 A Study to Determine the Long-Term Safety, Tolerability and Biological Activity of UshStat® in Patients With Usher Syndrome Type 1B Enrolling by invitation NCT02065011 Phase 1, Phase 2
4 Study of Usher Syndromes, Type 1 and Type 2 Completed NCT00001347
5 Natural History and Genetic Studies of Usher Syndrome Active, not recruiting NCT00106743

Search NIH Clinical Center for Usher Syndrome, Type 1b

Genetic Tests for Usher Syndrome, Type 1b

Genetic tests related to Usher Syndrome, Type 1b:

id Genetic test Affiliating Genes
1 Usher Syndrome, Type 1 29
2 Usher Syndrome, Type 1b 29
3 Usher Syndrome, Type 1e 29
4 Usher Syndrome Type I 24 USH1H
5 Usher Syndrome Type 1b 24 MYO7A
6 Usher Syndrome Type 1e 24

Anatomical Context for Usher Syndrome, Type 1b

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

39
Retina, Eye, Cerebellum

Publications for Usher Syndrome, Type 1b

Articles related to Usher Syndrome, Type 1b:

(show all 11)
id Title Authors Year
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

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

66 (show all 46)
id Symbol AA change Variation ID SNP ID
1 MYO7A p.Leu16Ser VAR_009315 rs1052030
2 MYO7A p.Gly25Arg VAR_009316 rs782252317
3 MYO7A p.Arg212Cys VAR_009318 rs121965080
4 MYO7A p.Arg212His VAR_009319 rs28934610
5 MYO7A p.Gly214Arg VAR_009320 rs111033283
6 MYO7A p.Arg241Ser VAR_009322
7 MYO7A p.Ala397Asp VAR_009325
8 MYO7A p.Glu450Gln VAR_009326
9 MYO7A p.Pro503Leu VAR_009328
10 MYO7A p.Leu651Pro VAR_009331
11 MYO7A p.Ala826Thr VAR_009332 rs368341987
12 MYO7A p.Gly955Ser VAR_009334 rs781988557
13 MYO7A p.Leu1087Pro VAR_009335 rs375050157
14 MYO7A p.Glu1170Lys VAR_009336 rs111033214
15 MYO7A p.Arg1240Gln VAR_009337 rs111033178
16 MYO7A p.Ala1288Pro VAR_009338 rs749747871
17 MYO7A p.Arg1343Ser VAR_009339 rs763469001
18 MYO7A p.Arg1602Gln VAR_009340 rs139889944
19 MYO7A p.Ala1628Ser VAR_009341
20 MYO7A p.Gly2137Glu VAR_009347
21 MYO7A p.Gly2163Ser VAR_009348 rs747656448
22 MYO7A p.Ala26Glu VAR_024039
23 MYO7A p.Val67Met VAR_024040
24 MYO7A p.Arg90Pro VAR_024041
25 MYO7A p.Ile134Asn VAR_024042 rs111033181
26 MYO7A p.Thr165Met VAR_024043 rs111033174
27 MYO7A p.Arg241Cys VAR_024044 rs782166819
28 MYO7A p.Ala457Val VAR_024046 rs111033286
29 MYO7A p.Gly519Asp VAR_024047 rs111033206
30 MYO7A p.Arg756Trp VAR_024048 rs782174733
31 MYO7A p.Glu968Asp VAR_024049 rs111033233
32 MYO7A p.Arg1743Trp VAR_024051 rs111033287
33 MYO7A p.Leu1858Pro VAR_024052 rs368657015
34 MYO7A p.Arg1883Gln VAR_024053 rs111033215
35 MYO7A p.Pro1887Leu VAR_024054 rs199606180
36 MYO7A p.Gly2187Asp VAR_024055 rs397516332
37 MYO7A p.His133Asp VAR_027301
38 MYO7A p.Gly163Arg VAR_027302
39 MYO7A p.Lys164Arg VAR_027303
40 MYO7A p.Ala198Thr VAR_027304
41 MYO7A p.Thr204Ala VAR_027305
42 MYO7A p.Glu1327Lys VAR_027309 rs373169422
43 MYO7A p.Arg1873Trp VAR_027314 rs397516321
44 MYO7A p.Met946Arg VAR_071646
45 MYO7A p.Glu1248Lys VAR_071647
46 MYO7A p.Glu1812Lys VAR_074074 rs377267777

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

6 (show top 50) (show all 130)
id Gene Variation Type Significance SNP ID Assembly Location
1 USH1G NM_173477.4(USH1G): c.832_851del20 (p.Ser278Profs) deletion Pathogenic rs397515345 GRCh37 Chromosome 17, 72916080: 72916099
2 USH1G NM_173477.4(USH1G): c.394dupG (p.Val132Glyfs) duplication Pathogenic rs587776546 GRCh37 Chromosome 17, 72916537: 72916537
3 CDH23 NM_022124.5(CDH23): c.193delC (p.Leu65Trpfs) deletion Pathogenic rs796051861 GRCh37 Chromosome 10, 73269886: 73269886
4 PCDH15 NM_033056.3(PCDH15): c.733C> T (p.Arg245Ter) single nucleotide variant Pathogenic rs111033260 GRCh37 Chromosome 10, 56077174: 56077174
5 USH1C NM_005709.3(USH1C): c.238dupC (p.Arg80Profs) duplication Pathogenic rs397515359 GRCh37 Chromosome 11, 17552956: 17552956
6 USH1C NM_005709.3(USH1C): c.216G> A (p.Val72=) single nucleotide variant Pathogenic rs151045328 GRCh37 Chromosome 11, 17552978: 17552978
7 MYO7A NM_000260.3(MYO7A): c.448C> T (p.Arg150Ter) single nucleotide variant Pathogenic rs121965079 GRCh37 Chromosome 11, 76867115: 76867115
8 MYO7A NM_000260.3(MYO7A): c.700C> T (p.Gln234Ter) single nucleotide variant Pathogenic rs41298133 GRCh37 Chromosome 11, 76868015: 76868015
9 MYO7A MYO7A, 6-BP DEL, EX3 deletion Pathogenic
10 MYO7A NM_000260.3(MYO7A): c.635G> A (p.Arg212His) single nucleotide variant Pathogenic rs28934610 GRCh37 Chromosome 11, 76867950: 76867950
11 MYO7A NM_000260.3(MYO7A): c.634C> T (p.Arg212Cys) single nucleotide variant Pathogenic rs121965080 GRCh37 Chromosome 11, 76867949: 76867949
12 MYO7A NM_000260.3(MYO7A): c.1797G> A (p.Met599Ile) single nucleotide variant Pathogenic rs121965082 GRCh37 Chromosome 11, 76877208: 76877208
13 MYO7A NM_000260.3(MYO7A): c.1884C> A (p.Cys628Ter) single nucleotide variant Pathogenic rs121965083 GRCh37 Chromosome 11, 76883880: 76883880
14 MYO7A NM_000260.3(MYO7A): c.93C> A (p.Cys31Ter) single nucleotide variant Pathogenic rs35689081 GRCh37 Chromosome 11, 76853829: 76853829
15 MYO7A NM_000260.3(MYO7A): c.1996C> T (p.Arg666Ter) single nucleotide variant Pathogenic rs121965085 GRCh37 Chromosome 11, 76885862: 76885862
16 MYO7A MYO7A, IVS27AS, G-C, -1 single nucleotide variant Pathogenic
17 MYO7A NM_000260.3(MYO7A): c.652G> A (p.Asp218Asn) single nucleotide variant Pathogenic/Likely pathogenic rs201539845 GRCh37 Chromosome 11, 76867967: 76867967
18 CIB2 NM_006383.3(CIB2): c.192G> C (p.Glu64Asp) single nucleotide variant Pathogenic rs145415848 GRCh37 Chromosome 15, 78403513: 78403513
19 MYO7A NM_000260.3(MYO7A): c.1097T> C (p.Leu366Pro) single nucleotide variant Likely pathogenic rs397516281 GRCh37 Chromosome 11, 76871225: 76871225
20 MYO7A NM_000260.3(MYO7A): c.1200+1G> A single nucleotide variant Pathogenic rs397516283 GRCh37 Chromosome 11, 76871329: 76871329
21 MYO7A NM_000260.3(MYO7A): c.1556delG (p.Gly519Alafs) deletion Pathogenic rs111033206 GRCh37 Chromosome 11, 76873900: 76873900
22 MYO7A NM_000260.3(MYO7A): c.1344-2A> G single nucleotide variant Pathogenic rs111033415 GRCh37 Chromosome 11, 76873164: 76873164
23 MYO7A NM_000260.3(MYO7A): c.1370C> T (p.Ala457Val) single nucleotide variant Likely pathogenic rs111033286 GRCh37 Chromosome 11, 76873192: 76873192
24 MYO7A NM_000260.3(MYO7A): c.1401_1403dupGCA (p.Arg467_His468insGln) duplication Likely pathogenic rs111033219 GRCh37 Chromosome 11, 76873223: 76873225
25 MYO7A NM_000260.3(MYO7A): c.141G> A (p.Trp47Ter) single nucleotide variant Pathogenic rs397516285 GRCh37 Chromosome 11, 76858852: 76858852
26 MYO7A NM_000260.3(MYO7A): c.1556G> A (p.Gly519Asp) single nucleotide variant Pathogenic rs111033206 GRCh37 Chromosome 11, 76873900: 76873900
27 MYO7A NM_000260.3(MYO7A): c.1690+1G> A single nucleotide variant Likely pathogenic rs111033389 GRCh37 Chromosome 11, 76874035: 76874035
28 MYO7A NM_000260.3(MYO7A): c.1833_1838dupCAGCCA (p.Ser612_Gln613insHisSer) duplication Likely pathogenic rs397516290 GRCh37 Chromosome 11, 76883829: 76883834
29 MYO7A NM_000260.3(MYO7A): c.19-1G> A single nucleotide variant Likely pathogenic rs111033426 GRCh37 Chromosome 11, 76853754: 76853754
30 MYO7A NM_000260.3(MYO7A): c.1900C> T (p.Arg634Ter) single nucleotide variant Pathogenic rs111033180 GRCh37 Chromosome 11, 76883896: 76883896
31 MYO7A NM_000260.3(MYO7A): c.1952_1953insAG (p.Cys652Glyfs) insertion Likely pathogenic rs111033510 GRCh37 Chromosome 11, 76885818: 76885819
32 MYO7A NM_000260.3(MYO7A): c.1963C> T (p.Gln655Ter) single nucleotide variant Pathogenic rs397516291 GRCh37 Chromosome 11, 76885829: 76885829
33 MYO7A NM_000260.3(MYO7A): c.2005C> T (p.Arg669Ter) single nucleotide variant Pathogenic/Likely pathogenic rs111033201 GRCh37 Chromosome 11, 76885871: 76885871
34 MYO7A NM_000260.3(MYO7A): c.2094+1G> A single nucleotide variant Pathogenic rs111033404 GRCh37 Chromosome 11, 76885961: 76885961
35 MYO7A NM_000260.3(MYO7A): c.2094+1G> C single nucleotide variant Likely pathogenic rs111033404 GRCh37 Chromosome 11, 76885961: 76885961
36 MYO7A NM_000260.3(MYO7A): c.2172delC (p.Lys725Argfs) deletion Pathogenic rs397516294 GRCh37 Chromosome 11, 76886495: 76886495
37 MYO7A NM_000260.3(MYO7A): c.2187+1G> A single nucleotide variant Likely pathogenic rs111033290 GRCh37 Chromosome 11, 76886511: 76886511
38 MYO7A NM_000260.3(MYO7A): c.2283-1G> T (p.Ser762CysfsTer61) single nucleotide variant Pathogenic rs397516295 GRCh37 Chromosome 11, 76890090: 76890090
39 MYO7A NM_000260.3(MYO7A): c.3572G> A (p.Gly1191Asp) single nucleotide variant Likely pathogenic rs397516301 GRCh38 Chromosome 11, 77189412: 77189412
40 MYO7A NM_000260.3(MYO7A): c.2904G> T (p.Glu968Asp) single nucleotide variant Pathogenic rs111033233 GRCh37 Chromosome 11, 76892635: 76892635
41 MYO7A NM_000260.3(MYO7A): c.3327delC (p.His1109Glnfs) deletion Pathogenic rs111033433 GRCh37 Chromosome 11, 76894154: 76894154
42 MYO7A NM_000260.3(MYO7A): c.3476G> T (p.Gly1159Val) single nucleotide variant Pathogenic/Likely pathogenic rs199897298 GRCh37 Chromosome 11, 76895733: 76895733
43 MYO7A NM_000260.3(MYO7A): c.3508G> A (p.Glu1170Lys) single nucleotide variant Pathogenic rs111033214 GRCh37 Chromosome 11, 76900393: 76900393
44 MYO7A NM_000260.3(MYO7A): c.3532delC (p.Gln1178Serfs) deletion Likely pathogenic rs111033239 GRCh37 Chromosome 11, 76900417: 76900417
45 MYO7A NM_000260.3(MYO7A): c.3533A> C (p.Gln1178Pro) single nucleotide variant Likely pathogenic rs111033482 GRCh37 Chromosome 11, 76900418: 76900418
46 MYO7A NM_000260.3(MYO7A): c.3543_3544dupCA (p.Asn1182Thrfs) duplication Likely pathogenic rs111033390 GRCh37 Chromosome 11, 76900428: 76900429
47 MYO7A NM_000260.3(MYO7A): c.3696_3706delAAGGACCTTTG (p.Arg1232Serfs) deletion Pathogenic rs397516303 GRCh37 Chromosome 11, 76901130: 76901140
48 MYO7A NM_000260.3(MYO7A): c.3719G> A (p.Arg1240Gln) single nucleotide variant Pathogenic rs111033178 GRCh37 Chromosome 11, 76901153: 76901153
49 MYO7A NM_000260.3(MYO7A): c.3728dupC (p.Pro1244Alafs) duplication Pathogenic rs397516304 GRCh37 Chromosome 11, 76901162: 76901162
50 MYO7A NM_000260.3(MYO7A): c.3764delA (p.Lys1255Argfs) deletion Pathogenic/Likely pathogenic rs111033347 GRCh37 Chromosome 11, 76901755: 76901755

Expression for Usher Syndrome, Type 1b

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

Pathways for Usher Syndrome, Type 1b

GO Terms for Usher Syndrome, Type 1b

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

(show all 12)
id Name GO ID Score Top Affiliating Genes
1 growth cone GO:0030426 9.69 CXADR GSK3B WHRN
2 ciliary basal body GO:0036064 9.67 USH1G USH2A WHRN
3 microvillus GO:0005902 9.65 CLRN1 MYO7A USH1C
4 photoreceptor outer segment GO:0001750 9.62 CIB2 MYO7A PCDH15 USH1C
5 periciliary membrane compartment GO:1990075 9.46 USH2A WHRN
6 photoreceptor connecting cilium GO:0032391 9.46 MYO7A USH1G USH2A WHRN
7 USH2 complex GO:1990696 9.43 USH2A WHRN
8 stereocilium bundle GO:0032421 9.43 PCDH15 USH2A WHRN
9 photoreceptor inner segment GO:0001917 9.43 CIB2 MYO7A USH1C USH1G USH2A WHRN
10 stereocilia ankle link GO:0002141 9.4 USH2A WHRN
11 stereocilia ankle link complex GO:0002142 9.37 USH2A WHRN
12 stereocilium GO:0032420 9.23 ADGRV1 CDH23 CIB2 CLRN1 MYO7A PCDH15

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

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 9.91 ADGRV1 CDH23 CLRN1 MYO7A PCDH15 USH1C
2 visual perception GO:0007601 9.88 ADGRV1 CDH23 CLRN1 MYO7A PCDH15 USH2A
3 sensory perception of light stimulus GO:0050953 9.81 ADGRV1 CDH23 CLRN1 MYO7A PCDH15 USH1C
4 inner ear receptor stereocilium organization GO:0060122 9.8 CDH23 MYO7A PCDH15 USH1C USH1G WHRN
5 inner ear morphogenesis GO:0042472 9.67 MYO7A USH1C USH1G
6 auditory receptor cell stereocilium organization GO:0060088 9.67 CLRN1 MYO7A PCDH15 WHRN
7 auditory receptor cell differentiation GO:0042491 9.63 MYO7A PCDH15 USH1C
8 inner ear receptor cell differentiation GO:0060113 9.61 MYO7A USH1G USH2A
9 photoreceptor cell maintenance GO:0045494 9.56 ADGRV1 CDH23 CIB2 CLRN1 PCDH15 USH1C
10 maintenance of animal organ identity GO:0048496 9.48 ADGRV1 USH2A
11 equilibrioception GO:0050957 9.1 CDH23 CLRN1 MYO7A PCDH15 USH1C USH1G

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

id Name GO ID Score Top Affiliating Genes
1 spectrin binding GO:0030507 8.8 MYO7A USH1C USH1G

Sources for Usher Syndrome, Type 1b

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
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33 ICD10
34 ICD10 via Orphanet
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37 KEGG
38 LifeMap
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42 MeSH
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48 NDF-RT
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60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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