USH1
MCID: USH036
MIFTS: 60

Usher Syndrome, Type I (USH1)

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

Aliases & Classifications for Usher Syndrome, Type I

MalaCards integrated aliases for Usher Syndrome, Type I:

Name: Usher Syndrome, Type I 56 71
Usher Syndrome, Type 1b 56 52 29 13 6
Usher Syndrome Type 1 12 58 29 6 15
Ush1 56 12 24 52 58
Usher Syndrome, Type 1e 56 74 52 13
Usher Syndrome, Type Ib 74 39 71
Usher Syndrome Type 1e 12 29 15
Ush1e 56 12 52
Us1 56 12 52
Retinitis Pigmentosa and Congenital Deafness 56 52
Usher Syndrome, Type Ie 56 71
Usher Syndrome, Type 1a 52 29
Usher Syndrome, Type 1 52 39
Usher Syndrome, Type I, French Variety 52
Usher's Syndrome Type 1b 73
Usher Syndrome Type Ie 12
Usher Syndrome Type Ib 73
Usher Syndrome Type I 24
Usher Syndrome 1b 73
Ush1a 52
Ushib 73
Ush1b 73

Characteristics:

Orphanet epidemiological data:

58
usher syndrome type 1
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
genetic heterogeneity
known as the 'french variety' of usher syndrome since the majority of families are from poitou-charentes, france
usher syndrome type i (congenital profound deafness, absent vestibular function, and prepubertal onset of retinitis pigmentosa) - 7 loci
user syndrome type ii (congenital moderate-severe deafness, normal vestibular dysfunction, and onset of retinitis pigmentosa in late second to early third decade) - 3 loci
usher syndrome type iii (postlingual progressive deafness, variable vestibular dysfunction, and progressive retinitis pigmentosa with variable age of onset) - 1 locus


HPO:

31
usher syndrome, type i:
Inheritance autosomal recessive inheritance heterogeneous

usher syndrome, type ie:
Inheritance autosomal recessive inheritance


GeneReviews:

24
Penetrance Penetrance is complete in usher syndrome type i.

Classifications:

Orphanet: 58  
Rare eye diseases
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


Summaries for Usher Syndrome, Type I

NIH Rare Diseases : 52 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.

MalaCards based summary : Usher Syndrome, Type I, also known as usher syndrome, type 1b, is related to usher syndrome, type ic and usher syndrome, type ij, and has symptoms including unspecified visual loss An important gene associated with Usher Syndrome, Type I is MYO7A (Myosin VIIA). Affiliated tissues include retina, eye and testes, and related phenotypes are intellectual disability and global developmental delay

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

OMIM : 56 Usher syndrome type I is an autosomal recessive condition characterized by profound congenital hearing impairment with unintelligible speech, early retinitis pigmentosa (usually evident within the first decade), and constant vestibular dysfunction. Type I is distinguished from type II (276901) on the basis of severity of hearing loss and the extent of vestibular involvement. Type I patients are profoundly deaf, whereas type II patients are 'hard of hearing.' Vestibular function is defective in type I patients, whereas type II patients have normal vestibular function (Moller et al., 1989). Patients with type III (USH3; 276902) have progressive hearing loss. Patients with type IV (USH4; 618144) have late onset of both retinitis pigmentosa and progressive, moderate to severe sensorineural hearing loss without vestibular involvement (Khateb et al., 2018). (276900)

UniProtKB/Swiss-Prot : 73 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.

Wikipedia : 74 Usher syndrome, also known as Hallgren syndrome, Usher-Hallgren syndrome, retinitis pigmentosa-dysacusis... more...

GeneReviews: NBK1265

Related Diseases for Usher Syndrome, Type I

Diseases in the Usher Syndrome family:

Usher Syndrome, Type I Usher Syndrome, Type Iia
Usher Syndrome, Type Iiia Usher Syndrome, Type Ic
Usher Syndrome, Type Id Usher Syndrome, Type if
Usher Syndrome, Type Iic Usher Syndrome, Type Ig
Usher Syndrome, Type Iid Usher Syndrome, Type Ih
Usher Syndrome, Type Iiib Usher Syndrome, Type Ij
Usher Syndrome, Type Ik Usher Syndrome, Type Iv
Usher Syndrome, Type 1m Usher Syndrome Type 2
Usher Syndrome, Type 2b

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

(show top 50) (show all 114)
# Related Disease Score Top Affiliating Genes
1 usher syndrome, type ic 34.6 WHRN USH1G USH1C TMC1 PCDH15 MYO7A
2 usher syndrome, type ij 33.6 WHRN USH2A USH1G USH1C PDZD7 PCDH15
3 usher syndrome, type iia 33.6 WHRN USH2A USH1C PDZD7 PCDH15 MYO7A
4 usher syndrome, type id 33.5 WHRN USH2A USH1G USH1C TMC1 PDZD7
5 usher syndrome, type if 33.4 WHRN USH2A USH1G USH1C PDZD7 PCDH15
6 usher syndrome, type ik 33.4 USH1K PCDH15 CLRN1 CIB2 CDH23
7 usher syndrome 33.3 WHRN USH2A USH1K USH1H USH1G USH1E
8 usher syndrome, type ih 33.3 WHRN USH2A USH1H USH1G USH1C PCDH15
9 usher syndrome, type iic 32.9 WHRN USH2A USH1G USH1C PDZD7 PCDH15
10 usher syndrome, type iid 32.8 WHRN USH2A USH1G USH1C PDZD7 PCDH15
11 usher syndrome, type iiia 32.8 WHRN USH2A USH1G USH1C PDZD7 PCDH15
12 usher syndrome, type iiib 32.7 WHRN USH2A USH1G USH1C PCDH15 MYO7A
13 retinitis pigmentosa-deafness syndrome 32.2 WHRN CDH23
14 branchiootic syndrome 1 31.7 WHRN USH2A USH1G TMC1 MYO7A CDH23
15 yemenite deaf-blind hypopigmentation syndrome 31.7 USH2A RHO MYO7A
16 retinitis pigmentosa 31.6 WHRN USH2A USH1G USH1C TMC1 RHO
17 usher syndrome, type ig 31.5 WHRN USH1G USH1C PCDH15 CDH23
18 sensorineural hearing loss 31.4 WHRN USH2A USH1G USH1C TMC1 PDZD7
19 retinal disease 31.3 USH2A USH1G USH1C RHO PDZD7 PCDH15
20 nonsyndromic deafness 31.1 PCDH15 MYO15A
21 deafness, autosomal recessive 2 31.1 WHRN USH1G USH1C TMC1 PDZD7 PCDH15
22 retinal degeneration 31.0 USH2A USH1C RHO MYO7A CDH23
23 deafness, autosomal dominant 20 31.0 USH1G TMC1 CDH23
24 nonsyndromic hearing loss 31.0 USH2A TMC1 PCDH15 MYO7A MYO15A CDH23
25 inherited retinal disorder 30.9 USH2A USH1C RHO PCDH15 MYO7A CLRN1
26 deafness, autosomal recessive 23 30.9 WHRN USH1G USH1C TMC1 PCDH15 MYO7A
27 usher syndrome type 2 30.9 WHRN USH2A USH1G USH1C TMC1 RHO
28 pathologic nystagmus 30.9 USH2A RHO CLRN1
29 deafness, autosomal recessive 12 30.9 WHRN USH2A USH1G USH1C TMC1 PCDH15
30 fundus dystrophy 30.8 WHRN USH2A USH1G USH1C RHO PDZD7
31 mohr-tranebjaerg syndrome 11.3
32 usher syndrome, type 1m 11.3
33 deafness, autosomal recessive 3 10.8 MYO7A MYO15A
34 deafness, autosomal dominant 1 10.8 MYO7A MYO15A ESPN
35 acute hemorrhagic leukoencephalitis 10.8 USH1G MYO7A CDH23
36 deafness, autosomal recessive 18a 10.8 USH1C PCDH15 MYO7A MYO15A CDH23
37 deafness, autosomal recessive 16 10.8 USH1C PCDH15 MYO15A CDH23
38 deafness, autosomal dominant 48 10.8 MYO7A MYO15A CIB2
39 vestibular disease 10.7 PCDH15 MYO7A MYO15A CDH23
40 autosomal recessive nonsyndromic deafness 36 10.7 WHRN USH1C PCDH15 ESPN CDH23
41 y-linked monogenic disease 10.7 TMC1 PCDH15 CDH23
42 deafness, autosomal recessive 83 10.7 MYO7A MYO15A CDH23
43 deafness, autosomal recessive 10.7 WHRN USH1C PDZD7 PCDH15 ESPN CIB2
44 deafness, autosomal recessive 86 10.7 WHRN PCDH15 CDH23
45 deafness, autosomal recessive 57 10.7 WHRN USH1C PDZD7 CIB2
46 deafness, autosomal recessive 8 10.7 TMC1 MYO15A
47 deafness, autosomal dominant 11 10.7 WHRN USH1G USH1C PDZD7 PCDH15 MYO7A
48 deafness, autosomal recessive 7 10.7 TMC1 MYO7A MYO15A CDH23
49 deafness, autosomal dominant 36 10.7 TMC1 PCDH15 MYO15A CDH23
50 deafness, autosomal recessive 30 10.7 WHRN PCDH15 MYO7A MYO15A ESPN

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



Diseases related to Usher Syndrome, Type I

Symptoms & Phenotypes for Usher Syndrome, Type I

Human phenotypes related to Usher Syndrome, Type I:

58 31 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
3 sensorineural hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000407
4 ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001251
5 abnormal electroretinogram 58 31 hallmark (90%) Very frequent (99-80%) HP:0000512
6 nyctalopia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000662
7 abnormal cochlea morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0000375
8 scotoma 58 31 hallmark (90%) Very frequent (99-80%) HP:0000575
9 iris hypopigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007730
10 hemianopia 58 31 hallmark (90%) Very frequent (99-80%) HP:0012377
11 visual loss 58 31 hallmark (90%) Very frequent (99-80%) HP:0000572
12 vestibular hypofunction 58 31 hallmark (90%) Very frequent (99-80%) HP:0001756
13 cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000518
14 aplasia/hypoplasia of the cerebellum 58 31 frequent (33%) Frequent (79-30%) HP:0007360
15 schizophrenia 58 31 frequent (33%) Frequent (79-30%) HP:0100753
16 high hypermetropia 58 31 frequent (33%) Frequent (79-30%) HP:0008499
17 hallucinations 58 31 occasional (7.5%) Occasional (29-5%) HP:0000738
18 anxiety 58 31 occasional (7.5%) Occasional (29-5%) HP:0000739
19 depressivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0000716
20 cerebral cortical atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002120
21 abnormality of dental enamel 58 31 occasional (7.5%) Occasional (29-5%) HP:0000682
22 subcortical cerebral atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0012157
23 motor delay 31 HP:0001270
24 areflexia 31 HP:0001284
25 congenital sensorineural hearing impairment 31 HP:0008527
26 rod-cone dystrophy 31 HP:0000510
27 vestibular areflexia 31 HP:0008568
28 undetectable electroretinogram 31 HP:0000550
29 absent vestibular function 31 HP:0008555

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
visual loss
retinitis pigmentosa
extinction of electroretinogram (before age 10)

Head And Neck Ears:
profound sensorineural hearing loss
absent vestibular function (caloric test)

Neurologic Central Nervous System:
delayed motor development

Clinical features from OMIM:

276900 602097

UMLS symptoms related to Usher Syndrome, Type I:


unspecified visual loss

MGI Mouse Phenotypes related to Usher Syndrome, Type I:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.07 ADGRV1 CDH23 CEP250 CIB2 CLRN1 ESPN
2 hearing/vestibular/ear MP:0005377 10.03 ADGRV1 CDH23 CEP250 CIB2 CLRN1 ESPN
3 nervous system MP:0003631 9.86 ADGRV1 CDH23 CEP250 CIB2 CLRN1 ESPN
4 vision/eye MP:0005391 9.47 ADGRV1 CDH23 CEP250 CIB2 CLRN1 MYO15A

Drugs & Therapeutics for Usher Syndrome, Type I

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 An Open-label Study to Determine the Long-term Safety, Tolerability and Biological Activity of SAR421869 in Patients With Usher Syndrome Type 1B Active, not recruiting NCT02065011 Phase 1, Phase 2 Blood draw for the laboratory assessment
2 A Phase I/IIA Dose Escalation Safety Study of Subretinally Injected SAR421869, Administered to Patients With Retinitis Pigmentosa Associated With Usher Syndrome Type 1B Terminated NCT01505062 Phase 1, Phase 2 SAR421869
3 Usher Syndrome - Clinical and Molecular Studies Completed NCT00001347
4 A Multicentre Longitudinal, Observational Natural History Study to Evaluate Disease Progression in Subjects With Usher Syndrome Type 1B (USH1B) Recruiting NCT03814499

Search NIH Clinical Center for Usher Syndrome, Type I

Genetic Tests for Usher Syndrome, Type I

Genetic tests related to Usher Syndrome, Type I:

# Genetic test Affiliating Genes
1 Usher Syndrome Type 1 29 MYO7A USH1C
2 Usher Syndrome, Type 1b 29
3 Usher Syndrome Type 1e 29
4 Usher Syndrome, Type 1a 29

Anatomical Context for Usher Syndrome, Type I

MalaCards organs/tissues related to Usher Syndrome, Type I:

40
Retina, Eye, Testes, Cerebellum, Bone, Brain, Heart

Publications for Usher Syndrome, Type I

Articles related to Usher Syndrome, Type I:

(show top 50) (show all 304)
# Title Authors PMID Year
1
Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study. 24 61 56 6
22135276 2012
2
From DFNB2 to Usher syndrome: variable expressivity of the same disease. 24 56 6
11391666 2001
3
The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene. 61 6 56
9171833 1997
4
Four-year follow-up of diagnostic service in USH1 patients. 24 56 61
21436283 2011
5
USH1H, a novel locus for type I Usher syndrome, maps to chromosome 15q22-23. 61 24 6
18505454 2009
6
Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome. 61 24 6
18719945 2008
7
Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans. 61 24 6
15537665 2005
8
Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin. 24 6 61
12588794 2003
9
CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness. 24 61 6
12075507 2002
10
USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses. 56 6
12080385 2002
11
Identification of three novel mutations in the USH1C gene and detection of thirty-one polymorphisms used for haplotype analysis. 24 6 61
11139240 2001
12
A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C. 61 24 6
10973247 2000
13
Possible interaction between USH1B and USH3 gene products as implied by apparent digenic deafness inheritance. 56 6
10364543 1999
14
Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins. 24 61 56
9382091 1997
15
A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene. 56 6
7951250 1994
16
Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48. 6 24
23023331 2012
17
A frameshift mutation in SANS results in atypical Usher syndrome. 6 24
21044053 2010
18
USH1A: chronicle of a slow death. 24 56
16400615 2006
19
A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome. 6 24
12711741 2003
20
The contribution of USH1C mutations to syndromic and non-syndromic deafness in the UK. 24 6
12702164 2003
21
The USH1C 216G-->A mutation and the 9-repeat VNTR(t,t) allele are in complete linkage disequilibrium in the Acadian population. 24 6
11810303 2002
22
Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F. 24 6
11487575 2001
23
Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23. 6 24
11090341 2001
24
A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene. 24 6
10973248 2000
25
Usher syndrome: an otoneurologic study. 24 56
2909824 1989
26
Exome sequencing identifies a founder frameshift mutation in an alternative exon of USH1C as the cause of autosomal recessive retinitis pigmentosa with late-onset hearing loss. 6 61
23251578 2012
27
Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%. 6 61
16679490 2006
28
Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population. 61 6
15660226 2005
29
Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D. 61 6
11138009 2001
30
Usher Syndrome Type I 61 6
20301442 1999
31
Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity. 61 6
10094549 1999
32
The Usher syndrome in the Lebanese population and further refinement of the USH2A candidate region. 61 6
9760205 1998
33
Evidence for a fourth locus in Usher syndrome type I. 61 56
8825055 1996
34
Clinical findings in obligate carriers of type I Usher syndrome. 56 61
8599365 1995
35
Defective myosin VIIA gene responsible for Usher syndrome type 1B. 61 56
7870171 1995
36
Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium. 61 56
8160750 1994
37
Usher syndrome type I associated with bronchiectasis and immotile nasal cilia in two brothers. 61 56
8474110 1993
38
A gene for Usher syndrome type I (USH1A) maps to chromosome 14q. 56 61
1478676 1992
39
Linkage of Usher syndrome type I gene (USH1B) to the long arm of chromosome 11. 61 56
1478677 1992
40
Localization of two genes for Usher syndrome type I to chromosome 11. 61 56
1478678 1992
41
Usher syndrome: results of a screening program in Colombia. 61 56
1756603 1991
42
Usher syndrome type I is not linked to D1S81 (pTHH 33): evidence for genetic heterogeneity. 56 61
1978628 1990
43
Usher syndrome in four Norwegian counties. 61 56
3757293 1986
44
A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans. 56
29300381 2018
45
A Founder Mutation in MYO7A Underlies a Significant Proportion of Usher Syndrome in Indigenous South Africans: Implications for the African Diaspora. 56
26469752 2015
46
Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants. 6
25262649 2014
47
American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss. 6
24651602 2014
48
Combination of retinitis pigmentosa and hearing loss caused by a novel mutation in PRPH2 and a known mutation in GJB2: importance for differential diagnosis of Usher syndrome. 24 61
22842402 2012
49
USH1K, a novel locus for type I Usher syndrome, maps to chromosome 10p11.21-q21.1. 61 24
22718019 2012
50
A population-based study of autosomal-recessive disease-causing mutations in a founder population. 6
22981120 2012

Variations for Usher Syndrome, Type I

ClinVar genetic disease variations for Usher Syndrome, Type I:

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# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MYO7A NM_000260.4(MYO7A):c.2307del (p.Asn769fs)deletion Pathogenic 402264 rs1060499800 11:76890115-76890115 11:77179069-77179069
2 MYO7A NM_000260.4(MYO7A):c.4838del (p.Asp1613fs)deletion Pathogenic 438178 rs1199012623 11:76910849-76910849 11:77199804-77199804
3 MYO7A NM_000260.4(MYO7A):c.52C>T (p.Gln18Ter)SNV Pathogenic 504505 rs1555051455 11:76853788-76853788 11:77142742-77142742
4 MYO7A NM_000260.4(MYO7A):c.1258A>T (p.Lys420Ter)SNV Pathogenic 504508 rs782539587 11:76872076-76872076 11:77161030-77161030
5 MYO7A NM_000260.4(MYO7A):c.1623dup (p.Lys542fs)duplication Pathogenic 521129 rs782077721 11:76873960-76873961 11:77162914-77162915
6 MYO7A NM_000260.4(MYO7A):c.19-2A>GSNV Pathogenic 558668 rs1555051384 11:76853753-76853753 11:77142707-77142707
7 MYO7A NM_000260.4(MYO7A):c.133-2A>GSNV Pathogenic 555778 rs782064437 11:76858842-76858842 11:77147796-77147796
8 MYO7A NM_000260.4(MYO7A):c.3504-1G>CSNV Pathogenic 554480 rs1555090171 11:76900388-76900388 11:77189343-77189343
9 MYO7A NM_000260.4(MYO7A):c.4117C>T (p.Arg1373Ter)SNV Pathogenic 551138 rs766641715 11:76903288-76903288 11:77192243-77192243
10 MYO7A NM_000260.4(MYO7A):c.5581C>T (p.Arg1861Ter)SNV Pathogenic 557045 rs878864531 11:76916607-76916607 11:77205562-77205562
11 MYO7A NM_000260.4(MYO7A):c.2461C>T (p.Gln821Ter)SNV Pathogenic 550026 rs1279918132 11:76890874-76890874 11:77179828-77179828
12 MYO7A NM_000260.4(MYO7A):c.3594C>A (p.Cys1198Ter)SNV Pathogenic 555608 rs782694195 11:76900479-76900479 11:77189434-77189434
13 MYO7A NM_000260.4(MYO7A):c.4297del (p.Gln1433fs)deletion Pathogenic 556038 rs1555096223 11:76905541-76905541 11:77194496-77194496
14 MYO7A NM_000260.4(MYO7A):c.5632del (p.Ala1877_Leu1878insTer)deletion Pathogenic 556569 rs1299898646 11:76916656-76916656 11:77205611-77205611
15 MYO7A NM_000260.4(MYO7A):c.5886_5889del (p.Phe1962fs)deletion Pathogenic 553558 rs1397834886 11:76919502-76919505 11:77208457-77208460
16 MYO7A NM_000260.4(MYO7A):c.6321G>A (p.Trp2107Ter)SNV Pathogenic 551885 rs773945008 11:76922949-76922949 11:77211904-77211904
17 MYO7A NM_000260.4(MYO7A):c.3872_3873TC[3] (p.Leu1293fs)short repeat Pathogenic 813431 11:76901863-76901864 11:77190818-77190819
18 MYO7A NM_000260.4(MYO7A):c.4996_4997del (p.Ser1666fs)deletion Pathogenic 812101 11:76912636-76912637 11:77201591-77201592
19 CDH23 NM_022124.6(CDH23):c.5311C>T (p.Arg1771Ter)SNV Pathogenic 812254 10:73539147-73539147 10:71779390-71779390
20 MYO7A NM_000260.4(MYO7A):c.1134_1146dup (p.Ser383fs)duplication Pathogenic 812349 11:76871260-76871261 11:77160214-77160215
21 MYO7A NM_000260.4(MYO7A):c.5069_5070insC (p.Gln1690fs)insertion Pathogenic 812351 11:76913370-76913371 11:77202325-77202326
22 USH1G NM_173477.5(USH1G):c.205dup (p.Leu69fs)duplication Pathogenic 812444 17:72916725-72916726 17:74920630-74920631
23 MYO7A NM_000260.4(MYO7A):c.2187+1G>TSNV Pathogenic 812350 11:76886511-76886511 11:77175465-77175465
24 CDH23 NM_022124.6(CDH23):c.7872G>A (p.Glu2624=)SNV Pathogenic 813418 10:73563177-73563177 10:71803420-71803420
25 USH1G NM_173477.5(USH1G):c.832_851del (p.Ser278fs)deletion Pathogenic 2916 rs397515345 17:72916080-72916099 17:74919985-74920004
26 USH1G NM_173477.5(USH1G):c.394dup (p.Val132fs)duplication Pathogenic 2917 rs587776546 17:72916536-72916537 17:74920441-74920442
27 CDH23 NM_022124.6(CDH23):c.193del (p.Leu65fs)deletion Pathogenic 4925 rs796051861 10:73269882-73269882 10:71510125-71510125
28 PCDH15 NM_033056.4(PCDH15):c.733C>T (p.Arg245Ter)SNV Pathogenic 4933 rs111033260 10:56077174-56077174 10:54317414-54317414
29 USH1C NM_153676.4(USH1C):c.497-2deldeletion Pathogenic 5140 11:17548589-17548589 11:17527042-17527042
30 USH1C NM_005709.3(USH1C):c.238dupC (p.Arg80Profs)duplication Pathogenic 5141 rs397515359 11:17552955-17552956 11:17531408-17531409
31 USH1C NM_153676.4(USH1C):c.216G>A (p.Val72=)SNV Pathogenic 5143 rs151045328 11:17552978-17552978 11:17531431-17531431
32 USH1C NM_153676.4(USH1C):c.91C>T (p.Arg31Ter)SNV Pathogenic 5146 rs121908370 11:17554815-17554815 11:17533268-17533268
33 MYO7A NM_000260.4(MYO7A):c.448C>T (p.Arg150Ter)SNV Pathogenic 11847 rs121965079 11:76867115-76867115 11:77156069-77156069
34 MYO7A NM_000260.4(MYO7A):c.700C>T (p.Gln234Ter)SNV Pathogenic 11848 rs41298133 11:76868015-76868015 11:77156969-77156969
35 MYO7A NM_000260.4(MYO7A):c.652_657del (p.Asp218_Ile219del)deletion Pathogenic 11849 rs1555062984 11:76867962-76867967 11:77156916-77156921
36 ESPN NM_031475.3(ESPN):c.2369_2386del (p.Arg790_Arg795del)deletion Pathogenic 560535 rs1557720377 1:6517284-6517301 1:6457224-6457241
37 MYO7A NM_000260.4(MYO7A):c.634C>T (p.Arg212Cys)SNV Pathogenic 11851 rs121965080 11:76867949-76867949 11:77156903-77156903
38 MYO7A NM_000260.4(MYO7A):c.1797G>A (p.Met599Ile)SNV Pathogenic 11856 rs121965082 11:76877208-76877208 11:77166162-77166162
39 MYO7A NM_000260.4(MYO7A):c.1884C>A (p.Cys628Ter)SNV Pathogenic 11858 rs121965083 11:76883880-76883880 11:77172834-77172834
40 MYO7A NM_000260.4(MYO7A):c.93C>A (p.Cys31Ter)SNV Pathogenic 11859 rs35689081 11:76853829-76853829 11:77142783-77142783
41 MYO7A NM_000260.4(MYO7A):c.1996C>T (p.Arg666Ter)SNV Pathogenic 11860 rs121965085 11:76885862-76885862 11:77174816-77174816
42 MYO7A MYO7A, IVS27AS, G-C, -1SNV Pathogenic 11861
43 CIB2 NM_006383.4(CIB2):c.192G>C (p.Glu64Asp)SNV Pathogenic 39688 rs145415848 15:78403513-78403513 15:78111171-78111171
44 MYO7A NM_000260.4(MYO7A):c.1344-2A>GSNV Pathogenic 43143 rs111033415 11:76873164-76873164 11:77162118-77162118
45 MYO7A NM_000260.4(MYO7A):c.1900C>T (p.Arg634Ter)SNV Pathogenic 43164 rs111033180 11:76883896-76883896 11:77172850-77172850
46 MYO7A NM_000260.4(MYO7A):c.2283-1G>TSNV Pathogenic 43178 rs397516295 11:76890090-76890090 11:77179044-77179044
47 MYO7A NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln)SNV Pathogenic 43218 rs111033178 11:76901153-76901153 11:77190108-77190108
48 MYO7A NM_000260.4(MYO7A):c.6070C>T (p.Arg2024Ter)SNV Pathogenic 43318 rs111033198 11:76922215-76922215 11:77211170-77211170
49 MYO7A NM_000260.4(MYO7A):c.6025del (p.Ala2009fs)deletion Pathogenic 43313 rs397516326 11:76919821-76919821 11:77208776-77208776
50 MYO7A NM_000260.4(MYO7A):c.470+1G>ASNV Pathogenic 177712 rs797044510 11:76867138-76867138 11:77156092-77156092

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

73 (show all 44)
# Symbol AA change Variation ID SNP ID
1 MYO7A p.Gly25Arg VAR_009316 rs782252317
2 MYO7A p.Arg212Cys VAR_009318 rs121965080
3 MYO7A p.Arg212His VAR_009319 rs28934610
4 MYO7A p.Gly214Arg VAR_009320 rs111033283
5 MYO7A p.Arg241Ser VAR_009322
6 MYO7A p.Ala397Asp VAR_009325 rs155506766
7 MYO7A p.Glu450Gln VAR_009326 rs126962295
8 MYO7A p.Pro503Leu VAR_009328
9 MYO7A p.Leu651Pro VAR_009331 rs876657416
10 MYO7A p.Ala826Thr VAR_009332 rs368341987
11 MYO7A p.Gly955Ser VAR_009334 rs781988557
12 MYO7A p.Leu1087Pro VAR_009335 rs375050157
13 MYO7A p.Glu1170Lys VAR_009336 rs111033214
14 MYO7A p.Arg1240Gln VAR_009337 rs111033178
15 MYO7A p.Ala1288Pro VAR_009338 rs749747871
16 MYO7A p.Arg1343Ser VAR_009339 rs763469001
17 MYO7A p.Arg1602Gln VAR_009340 rs139889944
18 MYO7A p.Ala1628Ser VAR_009341
19 MYO7A p.Gly2137Glu VAR_009347 rs119102588
20 MYO7A p.Gly2163Ser VAR_009348 rs747656448
21 MYO7A p.Ala26Glu VAR_024039 rs369125667
22 MYO7A p.Val67Met VAR_024040
23 MYO7A p.Arg90Pro VAR_024041
24 MYO7A p.Ile134Asn VAR_024042 rs111033181
25 MYO7A p.Thr165Met VAR_024043 rs111033174
26 MYO7A p.Arg241Cys VAR_024044 rs782166819
27 MYO7A p.Ala457Val VAR_024046 rs111033286
28 MYO7A p.Gly519Asp VAR_024047 rs111033206
29 MYO7A p.Arg756Trp VAR_024048 rs782174733
30 MYO7A p.Glu968Asp VAR_024049 rs111033233
31 MYO7A p.Arg1743Trp VAR_024051 rs111033287
32 MYO7A p.Leu1858Pro VAR_024052 rs368657015
33 MYO7A p.Arg1883Gln VAR_024053 rs111033215
34 MYO7A p.Pro1887Leu VAR_024054 rs199606180
35 MYO7A p.Gly2187Asp VAR_024055 rs397516332
36 MYO7A p.Gly163Arg VAR_027302 rs147256632
37 MYO7A p.Lys164Arg VAR_027303
38 MYO7A p.Ala198Thr VAR_027304
39 MYO7A p.Thr204Ala VAR_027305
40 MYO7A p.Glu1327Lys VAR_027309 rs373169422
41 MYO7A p.Arg1873Trp VAR_027314 rs397516321
42 MYO7A p.Met946Arg VAR_071646 rs129661298
43 MYO7A p.Glu1248Lys VAR_071647
44 MYO7A p.Glu1812Lys VAR_074074 rs377267777

Expression for Usher Syndrome, Type I

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

Pathways for Usher Syndrome, Type I

GO Terms for Usher Syndrome, Type I

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.36 WHRN USH2A USH1G USH1C TMC1 RHO
2 cell projection GO:0042995 10.2 WHRN USH2A USH1C RHO PDZD7 MYO15A
3 photoreceptor outer segment GO:0001750 9.91 USH1C RHO PCDH15 MYO7A CIB2 CEP250
4 microvillus GO:0005902 9.89 USH1C MYO7A ESPN CLRN1 ANKS4B
5 cilium GO:0005929 9.88 WHRN PDZD7 CIB2 CEP250
6 actin cytoskeleton GO:0015629 9.87 USH1G MYO7A MYO15A ESPN
7 ciliary basal body GO:0036064 9.83 WHRN USH2A USH1G CEP250
8 stereocilium tip GO:0032426 9.8 WHRN USH1C TMC1 PDZD7 ESPN
9 photoreceptor connecting cilium GO:0032391 9.8 WHRN USH2A USH1G USH1C PDZD7 MYO7A
10 stereocilium bundle GO:0032421 9.78 WHRN USH2A MYO15A ESPN
11 brush border GO:0005903 9.73 USH1C ESPN ANKS4B
12 periciliary membrane compartment GO:1990075 9.69 WHRN USH2A ADGRV1
13 USH2 complex GO:1990696 9.67 WHRN USH2A PDZD7 ADGRV1
14 stereocilia ankle link complex GO:0002142 9.65 WHRN USH2A USH1C PDZD7 ADGRV1
15 photoreceptor inner segment GO:0001917 9.65 WHRN USH2A USH1G USH1C RHO PDZD7
16 stereocilia ankle link GO:0002141 9.55 WHRN USH2A USH1C PDZD7 ADGRV1
17 stereocilium membrane GO:0060171 9.54 USH2A ADGRV1
18 stereocilium GO:0032420 9.36 WHRN USH1C PDZD7 PCDH15 MYO7A MYO15A

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

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 10 USH2A RHO CLRN1 CDH23 ADGRV1
2 visual perception GO:0007601 10 USH2A RHO PCDH15 MYO7A CLRN1 CDH23
3 actin filament organization GO:0007015 9.88 PCDH15 MYO7A MYO15A CLRN1
4 locomotory behavior GO:0007626 9.85 PCDH15 MYO15A ESPN CDH23
5 inner ear morphogenesis GO:0042472 9.84 USH1G USH1C MYO7A MYO15A
6 establishment of protein localization GO:0045184 9.81 WHRN USH2A PDZD7 ADGRV1
7 photoreceptor cell maintenance GO:0045494 9.81 USH2A USH1G USH1C RHO PCDH15 CLRN1
8 auditory receptor cell stereocilium organization GO:0060088 9.8 WHRN PDZD7 PCDH15 MYO7A CLRN1
9 equilibrioception GO:0050957 9.8 USH1G USH1C PCDH15 MYO7A CLRN1 CDH23
10 inner ear receptor cell stereocilium organization GO:0060122 9.8 WHRN USH1G USH1C PCDH15 MYO7A CDH23
11 inner ear development GO:0048839 9.77 PCDH15 MYO7A ADGRV1
12 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.77 WHRN TMC1 PDZD7 PCDH15 ADGRV1
13 inner ear auditory receptor cell differentiation GO:0042491 9.73 USH1C PDZD7 PCDH15 MYO7A
14 inner ear receptor cell development GO:0060119 9.7 WHRN USH1C PDZD7
15 auditory receptor cell development GO:0060117 9.67 TMC1 PDZD7 CLRN1
16 inner ear receptor cell differentiation GO:0060113 9.65 USH2A USH1G MYO7A
17 sensory perception of light stimulus GO:0050953 9.65 WHRN USH2A USH1G USH1C RHO PCDH15
18 cellular protein-containing complex assembly GO:0034622 9.62 USH1C ANKS4B
19 vesicle transport along actin filament GO:0030050 9.61 MYO7A MYO15A
20 maintenance of animal organ identity GO:0048496 9.59 USH2A ADGRV1
21 parallel actin filament bundle assembly GO:0030046 9.58 USH1C ESPN
22 brush border assembly GO:1904970 9.57 USH1C ANKS4B
23 protein localization to microvillus GO:1904106 9.56 USH1C ANKS4B
24 sensory perception of sound GO:0007605 9.44 WHRN USH2A USH1G USH1C TMC1 PDZD7

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

# Name GO ID Score Top Affiliating Genes
1 actin filament binding GO:0051015 9.26 USH1C MYO7A MYO15A ESPN
2 actin-dependent ATPase activity GO:0030898 9.16 MYO7A MYO15A
3 spectrin binding GO:0030507 8.8 USH1G USH1C MYO7A

Sources for Usher Syndrome, Type I

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
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48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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