MCID: USH036
MIFTS: 61

Usher Syndrome, Type I

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

Aliases & Classifications for Usher Syndrome, Type I

MalaCards integrated aliases for Usher Syndrome, Type I:

Name: Usher Syndrome, Type I 53 69
Usher Syndrome, Type 1e 53 72 49 28 13
Ush1 53 12 23 49 55
Usher Syndrome, Type 1b 53 49 28 13
Usher Syndrome Type 1 12 55 14
Ush1e 53 12 49
Us1 53 12 49
Retinitis Pigmentosa and Congenital Deafness 53 49
Usher Syndrome, Type Ie 53 69
Usher Syndrome, Type Ib 72 69
Usher Syndrome Type 1e 12 14
Usher Syndrome, Type 1 49 28
Usher Syndrome, Type I, French Variety 49
Usher's Syndrome Type 1b 71
Usher Syndrome, Type 1a 49
Usher Syndrome Type Ie 12
Usher Syndrome Type Ib 71
Usher Syndrome Type I 23
Usher Syndrome 1b 71
Ush1a 49
Ushib 71
Ush1b 71

Characteristics:

Orphanet epidemiological data:

55
usher syndrome type 1
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

53
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 heterogeneous autosomal recessive inheritance

usher syndrome, type ie:
Inheritance autosomal recessive inheritance


GeneReviews:

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

Classifications:



Summaries for Usher Syndrome, Type I

NIH Rare Diseases : 49 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

MalaCards based summary : Usher Syndrome, Type I, also known as usher syndrome, type 1e, is related to usher syndrome, type ic and usher syndrome, type ik, and has symptoms including ataxia, intellectual disability and cataract. An important gene associated with Usher Syndrome, Type I is MYO7A (Myosin VIIA), and among its related pathways/superpathways is COPI-independent Golgi-to-ER retrograde traffic. The drugs Bromocriptine and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include retina, eye and testes, and related phenotypes are behavior/neurological and hearing/vestibular/ear

OMIM : 53 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. (276900)

UniProtKB/Swiss-Prot : 71 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.

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

Wikipedia : 72 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 2
Usher Syndrome, Type 2b

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

(show all 39)
# Related Disease Score Top Affiliating Genes
1 usher syndrome, type ic 33.6 CDH23 MYO7A USH1C
2 usher syndrome, type ik 32.5 PCDH15 USH1K
3 usher syndrome, type if 32.2 CDH23 MYO7A PCDH15 USH1C USH1G
4 usher syndrome, type id 31.8 ADGRV1 CDH23 MYO7A PCDH15 USH1C USH1G
5 usher syndrome, type iic 31.5 ADGRV1 CDH23 MYO7A PCDH15 USH1C USH1G
6 usher syndrome, type iid 31.4 ADGRV1 CDH23 MYO7A PCDH15 RHO USH1C
7 usher syndrome 29.5 ADGRV1 ANKS4B CDH23 CIB2 MYO7A OMP
8 retinitis pigmentosa 28.7 ADGRV1 CDH23 CIB2 DCTN2 IMPDH1 MYO7A
9 usher syndrome, type ih 11.2
10 usher syndrome, type ij 11.2
11 usher syndrome, type iia 11.1
12 retinitis pigmentosa-deafness syndrome 10.5
13 dfnb1 10.5 MYO7A PCDH15
14 deafness, autosomal recessive 23 10.5 CDH23 MYO7A PCDH15
15 deafness, autosomal dominant 20 10.5 ACTG1 USH1C USH1G
16 auditory system disease 10.5 CDH23 MYO7A PCDH15
17 usher syndrome, type ig 10.5 CDH23 MYO7A PCDH15 USH1G
18 deafness, autosomal recessive 12 10.4 CDH23 MYO7A PCDH15 USH1C
19 deafness, autosomal dominant 48 10.4 CIB2 MYO7A
20 deafness, autosomal recessive 85 10.4 CDH23 MYO7A
21 deafness, autosomal recessive 83 10.3 CDH23 MYO7A
22 bardet-biedl syndrome 10.3 CDH23 MYO7A PCDH15 USH1C
23 deafness, autosomal recessive 10.3 CDH23 CIB2 PCDH15 USH1C
24 deafness, autosomal recessive 6 10.3 ADGRV1 MYO7A USH2A
25 autosomal recessive non-syndromic sensorineural deafness type dfnb 10.3 CDH23 CIB2 MYO7A PCDH15 USH1C
26 sensorineural hearing loss 10.2 CDH23 MYO7A USH2A
27 retinitis pigmentosa 10 10.2 ASB10 IMPDH1 RHO
28 retinal disease 10.2 MYO7A PCDH15 RHO USH1C USH2A
29 leber congenital amaurosis 10.1 IMPDH1 MYO7A RHO USH2A
30 retinal degeneration 10.1 MYO7A RHO USH1C
31 nonsyndromic deafness 10.0 ACTG1 CDH23 CIB2 MYO7A PCDH15 USH1C
32 usher syndrome, type iiia 10.0 ADGRV1 CDH23 MYO7A PCDH15 USH1C USH1G
33 herpes simplex 10.0
34 usher syndrome type 2 9.8 ADGRV1 CDH23 CIB2 MYO7A PCDH15 USH1C
35 blood group, i system 9.8
36 branchiootic syndrome 1 9.8
37 leber congenital amaurosis 4 9.8
38 retinitis 9.8
39 bronchiectasis 9.8

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

Symptoms via clinical synopsis from OMIM:

53
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

Human phenotypes related to Usher Syndrome, Type I:

55 31 (show all 32)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001251
2 intellectual disability 55 31 hallmark (90%) Very frequent (99-80%) HP:0001249
3 cataract 55 31 frequent (33%) Frequent (79-30%) HP:0000518
4 hallucinations 55 31 occasional (7.5%) Occasional (29-5%) HP:0000738
5 global developmental delay 55 31 hallmark (90%) Very frequent (99-80%) HP:0001263
6 sensorineural hearing impairment 55 31 hallmark (90%) Very frequent (99-80%) HP:0000407
7 abnormal electroretinogram 55 31 hallmark (90%) Very frequent (99-80%) HP:0000512
8 anxiety 55 31 occasional (7.5%) Occasional (29-5%) HP:0000739
9 nyctalopia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000662
10 cerebral cortical atrophy 55 31 occasional (7.5%) Occasional (29-5%) HP:0002120
11 aplasia/hypoplasia of the cerebellum 55 31 frequent (33%) Frequent (79-30%) HP:0007360
12 visual loss 55 31 hallmark (90%) Very frequent (99-80%) HP:0000572
13 abnormality of dental enamel 55 31 occasional (7.5%) Occasional (29-5%) HP:0000682
14 schizophrenia 55 31 frequent (33%) Frequent (79-30%) HP:0100753
15 iris hypopigmentation 55 31 hallmark (90%) Very frequent (99-80%) HP:0007730
16 subcortical cerebral atrophy 55 31 occasional (7.5%) Occasional (29-5%) HP:0012157
17 scotoma 55 31 hallmark (90%) Very frequent (99-80%) HP:0000575
18 vestibular hypofunction 55 31 hallmark (90%) Very frequent (99-80%) HP:0001756
19 depression 55 Occasional (29-5%)
20 hemianopsia 55 Very frequent (99-80%)
21 high-grade hypermetropia 55 Frequent (79-30%)
22 abnormality of cochlea 55 Very frequent (99-80%)
23 congenital sensorineural hearing impairment 31 HP:0008527
24 motor delay 31 HP:0001270
25 rod-cone dystrophy 31 HP:0000510
26 vestibular areflexia 31 HP:0008568
27 high hypermetropia 31 frequent (33%) HP:0008499
28 depressivity 31 occasional (7.5%) HP:0000716
29 undetectable electroretinogram 31 HP:0000550
30 hemianopia 31 hallmark (90%) HP:0012377
31 absent vestibular function 31 HP:0008555
32 abnormal cochlea morphology 31 hallmark (90%) HP:0000375

UMLS symptoms related to Usher Syndrome, Type I:


unspecified visual loss

MGI Mouse Phenotypes related to Usher Syndrome, Type I:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.96 ACTG1 ADGRV1 CDH23 CIB2 CXADR MYO7A
2 hearing/vestibular/ear MP:0005377 9.81 ACTG1 ADGRV1 CDH23 CIB2 MYO7A PCDH15
3 nervous system MP:0003631 9.7 OMP PCDH15 RHO USH1C USH1G USH2A
4 vision/eye MP:0005391 9.23 ADGRV1 CDH23 MYO7A PCDH15 RHO USH1C

Drugs & Therapeutics for Usher Syndrome, Type I

Drugs for Usher Syndrome, Type I (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 46)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bromocriptine Approved, Investigational Phase 3 25614-03-3 31101
2
Dopamine Approved Phase 3 51-61-6, 62-31-7 681
3
Lactitol Investigational Phase 3 585-86-4 3871
4 Antiparkinson Agents Phase 3
5 Dopamine Agents Phase 3
6 Dopamine agonists Phase 3
7 Hormone Antagonists Phase 3
8 Hormones Phase 3
9 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
10 Neurotransmitter Agents Phase 3
11 Heptavalent Pneumococcal Conjugate Vaccine Phase 3
12 Vaccines Phase 3
13
Irinotecan Approved, Investigational Phase 2 97682-44-5, 100286-90-6 60838
14
Camptothecin Experimental Phase 2 7689-03-4
15
Docetaxel Approved May 1996, Investigational Phase 2 114977-28-5 148124 9877265
16 Antimitotic Agents Phase 2
17 Antineoplastic Agents, Phytogenic Phase 2
18 topoisomerase I inhibitors Phase 2
19 Topoisomerase Inhibitors Phase 2
20 Antiviral Agents Phase 1
21 tyrosine Nutraceutical Phase 1
22
Menthol Approved 2216-51-5 16666
23
Amphotericin B Approved, Investigational 1397-89-3 5280965 14956
24
Anidulafungin Approved, Investigational 166663-25-8 166548
25
Caspofungin Approved 162808-62-0, 179463-17-3 2826718 468682
26
Fluconazole Approved, Investigational 86386-73-4 3365
27
Itraconazole Approved, Investigational 84625-61-6 55283
28
Micafungin Approved, Investigational 235114-32-6 477468 3081921
29
Miconazole Approved, Investigational, Vet_approved 22916-47-8 4189
30
Voriconazole Approved, Investigational 137234-62-9 71616
31 Antipruritics
32 Dermatologic Agents
33 Anti-Bacterial Agents
34 Antifungal Agents
35 Anti-Infective Agents
36 Antiparasitic Agents
37 Antiprotozoal Agents
38 Cytochrome P-450 CYP2C9 Inhibitors
39 Cytochrome P-450 CYP3A Inhibitors
40 Cytochrome P-450 Enzyme Inhibitors
41 Echinocandins
42 Hydroxyitraconazole
43 Liposomal amphotericin B
44 Steroid Synthesis Inhibitors
45 insulin
46 Insulin, Globin Zinc

Interventional clinical trials:

(show all 14)

# Name Status NCT ID Phase Drugs
1 Safety and Tolerability Study of Cycloset in Treatment of Type 2 Diabetes Completed NCT00377676 Phase 3 Cycloset;Usual Diabetes Therapy plus placebo
2 A Study to Evaluate Safety and Immune Response of Novartis Meningococcal ACWY Vaccine In Infants Completed NCT00474526 Phase 3
3 Trial of Weekly Taxotere and Irinotecan (CPT-11) in Patients With Advanced Non-small Cell Lung Cancer Completed NCT00819728 Phase 2 Docetaxel;Irinotecan
4 Study of UshStat in Patients With Retinitis Pigmentosa Associated With Usher Syndrome Type 1B Recruiting NCT01505062 Phase 1, Phase 2
5 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 UshStat
6 The Safety and Effectiveness of SPC3 in HIV-1 Infected Patients Completed NCT00002363 Phase 1 Peptide Construction 3, Synthetic
7 The Evaluation of Safety, Tolerability, and Pharmacokinetics for Fruquintinib in Solid Tumors Recruiting NCT03251378 Phase 1 Fruquintinib (HMPL-013)
8 A Multi-Center, Open-Label Study of Sulfatinib(HMPL-012) in Patients With Advanced Solid Tumors Recruiting NCT02549937 Phase 1 sulfatinib
9 [Trial of device that is not approved or cleared by the U.S. FDA] Withheld NCT02631213
10 A Test of the Comparison Between Trans-rectal and Trans-perineal Biopsy of Prostate Unknown status NCT01849835
11 24 Hour Use of the Wearable Artificial Kidney Completed NCT02280005
12 Study of Usher Syndromes, Type 1 and Type 2 Completed NCT00001347
13 Short and Long-term Safety of Micafungin and Other Parenteral Antifungal Agents Active, not recruiting NCT01686607 Parenteral micafungin application;Other parenteral antifungal drugs
14 T1 Diabetes Hypoglycemia Prevention Pilot Terminated NCT02682940

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 28 MYO7A USH1C
2 Usher Syndrome, Type 1b 28
3 Usher Syndrome, Type 1e 28

Anatomical Context for Usher Syndrome, Type I

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

38
Retina, Eye, Testes, Lung, Kidney, Prostate, Cerebellum

Publications for Usher Syndrome, Type I

Articles related to Usher Syndrome, Type I:

(show all 43)
# 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
Targeted exon sequencing in Usher syndrome type I. ( 25468891 )
2014
3
The giant spectrin I^V couples the molecular motors to phototransduction and Usher syndrome type I proteins along their trafficking route. ( 23704327 )
2013
4
Mutation screening of the PCDH15 gene in Spanish patients with Usher syndrome type I. ( 22815625 )
2012
5
Gene therapy strategies for Usher syndrome type 1B. ( 22183338 )
2012
6
Evidence of genetic heterogeneity in Alberta Hutterites with Usher syndrome type I. ( 22690115 )
2012
7
Cadherin-23, myosin VIIa and harmonin, encoded by Usher syndrome type I genes, form a ternary complex and interact with membrane phospholipids. ( 20639393 )
2010
8
Long-term ophthalmic health care in Usher syndrome type I from an ICF perspective. ( 19280439 )
2009
9
"Minimized rotational vestibular testing" as a screening procedure detecting vestibular areflexy in deaf children: screening cochlear implant candidates for Usher syndrome type I. ( 18058117 )
2008
10
Mutation profile of the CDH23 gene in 56 probands with Usher syndrome type I. ( 18429043 )
2008
11
Lentiviral gene replacement therapy of retinas in a mouse model for Usher syndrome type 1B. ( 17268537 )
2007
12
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
13
Photodynamic treatment of a secondary vasoproliferative tumour associated with sector retinitis pigmentosa and Usher syndrome type I. ( 17362466 )
2007
14
MYO7A mutation screening in Usher syndrome type I patients from diverse origins. ( 17361009 )
2007
15
Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I. ( 16470552 )
2006
16
Audiologic performance and benefit of cochlear implantation in Usher syndrome type I. ( 16652077 )
2006
17
Quality of life and cochlear implantation in Usher syndrome type I. ( 16652078 )
2006
18
Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population. ( 15660226 )
2005
19
Identification of a rat model for usher syndrome type 1B by N-ethyl-N-nitrosourea mutagenesis-driven forward genetics. ( 15965244 )
2005
20
Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin. ( 12588794 )
2003
21
Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively. ( 12112664 )
2002
22
A novel locus for Usher syndrome type I, USH1G, maps to chromosome 17q24-25. ( 11941484 )
2002
23
Origin of vestibular dysfunction in Usher syndrome type 1B. ( 11162241 )
2001
24
Electroretinographic anomalies in mice with mutations in Myo7a, the gene involved in human Usher syndrome type 1B. ( 11222540 )
2001
25
Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I. ( 10930322 )
2000
26
Histopathologic features of the temporal bone in usher syndrome type I. ( 10922238 )
2000
27
The cochlear nuclei in two patients with Usher syndrome type I. ( 10595664 )
1999
28
Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity. ( 10094549 )
1999
29
Hearing impairment related to age in Usher syndrome types 1B and 2A. ( 10208682 )
1999
30
Linkage analysis in Usher syndrome type I (USH1) families from Spain. ( 9610802 )
1998
31
Map refinement of the Usher syndrome type 1B gene, MYO7A, relative to 11q13.5 microsatellite markers. ( 9761396 )
1998
32
A newly identified locus for Usher syndrome type I, USH1E, maps to chromosome 21q21. ( 9002666 )
1997
33
Evidence for a fourth locus in Usher syndrome type I. ( 8825055 )
1996
34
Defective myosin VIIA gene responsible for Usher syndrome type 1B. ( 7870171 )
1995
35
Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type 1B. ( 7568224 )
1995
36
Tightly linked flanking microsatellite markers for the Usher syndrome type I locus on the short arm of chromosome 11. ( 8128966 )
1994
37
Usher syndrome type I associated with bronchiectasis and immotile nasal cilia in two brothers. ( 8474110 )
1993
38
Human olfactory marker protein maps close to tyrosinase and is a candidate gene for Usher syndrome type I. ( 8499899 )
1993
39
Usher Syndrome Type I ( 20301442 )
1993
40
A gene for Usher syndrome type I (USH1A) maps to chromosome 14q. ( 1478676 )
1992
41
Localization of two genes for Usher syndrome type I to chromosome 11. ( 1478678 )
1992
42
Linkage of Usher syndrome type I gene (USH1B) to the long arm of chromosome 11. ( 1478677 )
1992
43
Usher syndrome type I is not linked to D1S81 (pTHH 33): evidence for genetic heterogeneity. ( 1978628 )
1990

Variations for Usher Syndrome, Type I

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

71 (show all 46)
# 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 rs876657416
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 rs369125667
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 I:

6 (show top 50) (show all 130)
# Gene Variation Type Significance SNP ID Assembly Location
1 MYO7A NM_000260.3(MYO7A): c.448C> T (p.Arg150Ter) single nucleotide variant Pathogenic rs121965079 GRCh37 Chromosome 11, 76867115: 76867115
2 MYO7A NM_000260.3(MYO7A): c.700C> T (p.Gln234Ter) single nucleotide variant Pathogenic rs41298133 GRCh37 Chromosome 11, 76868015: 76868015
3 MYO7A NM_000260.3(MYO7A): c.652_657delGACATC (p.Asp218_Ile219del) deletion Pathogenic GRCh38 Chromosome 11, 77156921: 77156926
4 MYO7A NM_000260.3(MYO7A): c.635G> A (p.Arg212His) single nucleotide variant Pathogenic rs28934610 GRCh37 Chromosome 11, 76867950: 76867950
5 MYO7A NM_000260.3(MYO7A): c.634C> T (p.Arg212Cys) single nucleotide variant Pathogenic rs121965080 GRCh37 Chromosome 11, 76867949: 76867949
6 MYO7A NM_000260.3(MYO7A): c.1797G> A (p.Met599Ile) single nucleotide variant Pathogenic rs121965082 GRCh37 Chromosome 11, 76877208: 76877208
7 MYO7A NM_000260.3(MYO7A): c.1884C> A (p.Cys628Ter) single nucleotide variant Pathogenic rs121965083 GRCh37 Chromosome 11, 76883880: 76883880
8 MYO7A NM_000260.3(MYO7A): c.93C> A (p.Cys31Ter) single nucleotide variant Pathogenic rs35689081 GRCh37 Chromosome 11, 76853829: 76853829
9 MYO7A NM_000260.3(MYO7A): c.1996C> T (p.Arg666Ter) single nucleotide variant Pathogenic rs121965085 GRCh37 Chromosome 11, 76885862: 76885862
10 MYO7A MYO7A, IVS27AS, G-C, -1 single nucleotide variant Pathogenic
11 MYO7A NM_000260.3(MYO7A): c.652G> A (p.Asp218Asn) single nucleotide variant Pathogenic/Likely pathogenic rs201539845 GRCh37 Chromosome 11, 76867967: 76867967
12 CIB2 NM_006383.3(CIB2): c.192G> C (p.Glu64Asp) single nucleotide variant Pathogenic rs145415848 GRCh37 Chromosome 15, 78403513: 78403513
13 MYO7A NM_000260.3(MYO7A): c.1097T> C (p.Leu366Pro) single nucleotide variant Likely pathogenic rs397516281 GRCh37 Chromosome 11, 76871225: 76871225
14 MYO7A NM_000260.3(MYO7A): c.1200+1G> A single nucleotide variant Pathogenic rs397516283 GRCh37 Chromosome 11, 76871329: 76871329
15 MYO7A NM_000260.3(MYO7A): c.1344-2A> G single nucleotide variant Pathogenic rs111033415 GRCh37 Chromosome 11, 76873164: 76873164
16 MYO7A NM_000260.3(MYO7A): c.1370C> T (p.Ala457Val) single nucleotide variant Likely pathogenic rs111033286 GRCh37 Chromosome 11, 76873192: 76873192
17 MYO7A NM_000260.3(MYO7A): c.1403_1404insGCA (p.Arg467_His468insGln) insertion Likely pathogenic rs111033219 GRCh37 Chromosome 11, 76873223: 76873225
18 MYO7A NM_000260.3(MYO7A): c.141G> A (p.Trp47Ter) single nucleotide variant Pathogenic rs397516285 GRCh37 Chromosome 11, 76858852: 76858852
19 MYO7A NM_000260.3(MYO7A): c.1556G> A (p.Gly519Asp) single nucleotide variant Pathogenic rs111033206 GRCh37 Chromosome 11, 76873900: 76873900
20 MYO7A NM_000260.3(MYO7A): c.1556delG (p.Gly519Alafs) deletion Pathogenic rs111033206 GRCh37 Chromosome 11, 76873900: 76873900
21 MYO7A NM_000260.3(MYO7A): c.1690+1G> A single nucleotide variant Likely pathogenic rs111033389 GRCh37 Chromosome 11, 76874035: 76874035
22 MYO7A NM_000260.3(MYO7A): c.1833_1838dupCAGCCA (p.Ser612_Gln613insHisSer) duplication Likely pathogenic rs397516290 GRCh37 Chromosome 11, 76883829: 76883834
23 MYO7A NM_000260.3(MYO7A): c.19-1G> A single nucleotide variant Likely pathogenic rs111033426 GRCh37 Chromosome 11, 76853754: 76853754
24 MYO7A NM_000260.3(MYO7A): c.1900C> T (p.Arg634Ter) single nucleotide variant Pathogenic rs111033180 GRCh37 Chromosome 11, 76883896: 76883896
25 MYO7A NM_000260.3(MYO7A): c.1952_1953insAG (p.Cys652Glyfs) insertion Likely pathogenic rs111033510 GRCh37 Chromosome 11, 76885818: 76885819
26 MYO7A NM_000260.3(MYO7A): c.1963C> T (p.Gln655Ter) single nucleotide variant Pathogenic rs397516291 GRCh37 Chromosome 11, 76885829: 76885829
27 MYO7A NM_000260.3(MYO7A): c.2005C> T (p.Arg669Ter) single nucleotide variant Pathogenic/Likely pathogenic rs111033201 GRCh37 Chromosome 11, 76885871: 76885871
28 MYO7A NM_000260.3(MYO7A): c.2094+1G> A single nucleotide variant Pathogenic rs111033404 GRCh37 Chromosome 11, 76885961: 76885961
29 MYO7A NM_000260.3(MYO7A): c.2094+1G> C single nucleotide variant Likely pathogenic rs111033404 GRCh37 Chromosome 11, 76885961: 76885961
30 MYO7A NM_000260.3(MYO7A): c.2172delC (p.Lys725Argfs) deletion Pathogenic rs397516294 GRCh37 Chromosome 11, 76886495: 76886495
31 MYO7A NM_000260.3(MYO7A): c.2187+1G> A single nucleotide variant Likely pathogenic rs111033290 GRCh37 Chromosome 11, 76886511: 76886511
32 MYO7A NM_000260.3(MYO7A): c.2283-1G> T (p.Ser762CysfsTer61) single nucleotide variant Pathogenic rs397516295 GRCh37 Chromosome 11, 76890090: 76890090
33 MYO7A NM_000260.3(MYO7A): c.3532delC (p.Gln1178Serfs) deletion Likely pathogenic rs111033239 GRCh37 Chromosome 11, 76900417: 76900417
34 MYO7A NM_000260.3(MYO7A): c.2904G> T (p.Glu968Asp) single nucleotide variant Pathogenic rs111033233 GRCh37 Chromosome 11, 76892635: 76892635
35 MYO7A NM_000260.3(MYO7A): c.3327delC (p.His1109Glnfs) deletion Pathogenic rs111033433 GRCh37 Chromosome 11, 76894154: 76894154
36 MYO7A NM_000260.3(MYO7A): c.3476G> T (p.Gly1159Val) single nucleotide variant Likely pathogenic rs199897298 GRCh37 Chromosome 11, 76895733: 76895733
37 MYO7A NM_000260.3(MYO7A): c.3508G> A (p.Glu1170Lys) single nucleotide variant Pathogenic rs111033214 GRCh37 Chromosome 11, 76900393: 76900393
38 MYO7A NM_000260.3(MYO7A): c.3533A> C (p.Gln1178Pro) single nucleotide variant Likely pathogenic rs111033482 GRCh37 Chromosome 11, 76900418: 76900418
39 MYO7A NM_000260.3(MYO7A): c.3544_3545insCA (p.Asn1182Thrfs) insertion Likely pathogenic rs111033390 GRCh37 Chromosome 11, 76900428: 76900429
40 MYO7A NM_000260.3(MYO7A): c.3572G> A (p.Gly1191Asp) single nucleotide variant Likely pathogenic rs397516301 GRCh37 Chromosome 11, 76900457: 76900457
41 MYO7A NM_000260.3(MYO7A): c.3696_3706delAAGGACCTTTG (p.Arg1232Serfs) deletion Pathogenic rs397516303 GRCh37 Chromosome 11, 76901130: 76901140
42 MYO7A NM_000260.3(MYO7A): c.3719G> A (p.Arg1240Gln) single nucleotide variant Pathogenic/Likely pathogenic rs111033178 GRCh37 Chromosome 11, 76901153: 76901153
43 MYO7A NM_000260.3(MYO7A): c.3728_3729insC (p.Pro1244Alafs) insertion Pathogenic rs397516304 GRCh37 Chromosome 11, 76901162: 76901162
44 MYO7A NM_000260.3(MYO7A): c.3764delA (p.Lys1255Argfs) deletion Pathogenic/Likely pathogenic rs111033347 GRCh37 Chromosome 11, 76901755: 76901755
45 MYO7A NM_000260.3(MYO7A): c.397C> T (p.His133Tyr) single nucleotide variant Likely pathogenic rs111033403 GRCh37 Chromosome 11, 76867064: 76867064
46 MYO7A NM_000260.3(MYO7A): c.397dupC (p.His133Profs) duplication Likely pathogenic rs111033187 GRCh37 Chromosome 11, 76867064: 76867064
47 MYO7A NM_000260.3(MYO7A): c.401T> A (p.Ile134Asn) single nucleotide variant Likely pathogenic rs111033181 GRCh37 Chromosome 11, 76867068: 76867068
48 MYO7A NM_000260.3(MYO7A): c.4065delC (p.His1355Glnfs) deletion Likely pathogenic rs111033202 GRCh37 Chromosome 11, 76903236: 76903236
49 MYO7A NM_000260.3(MYO7A): c.4293G> A (p.Trp1431Ter) single nucleotide variant Pathogenic rs397516308 GRCh37 Chromosome 11, 76905539: 76905539
50 MYO7A NM_000260.3(MYO7A): c.4411T> C (p.Ser1471Pro) single nucleotide variant Likely pathogenic rs397516310 GRCh37 Chromosome 11, 76908613: 76908613

Expression for Usher Syndrome, Type I

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

Pathways for Usher Syndrome, Type I

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

# Super pathways Score Top Affiliating Genes
1 10.07 DCTN2 DYNC1I1

GO Terms for Usher Syndrome, Type I

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

# Name GO ID Score Top Affiliating Genes
1 photoreceptor outer segment GO:0001750 9.55 CIB2 MYO7A PCDH15 RHO USH1C
2 microvillus GO:0005902 9.5 ANKS4B MYO7A USH1C
3 photoreceptor connecting cilium GO:0032391 9.43 MYO7A USH1G USH2A
4 photoreceptor inner segment GO:0001917 9.43 CIB2 MYO7A RHO USH1C USH1G USH2A
5 stereocilium bundle GO:0032421 9.37 PCDH15 USH2A
6 stereocilium GO:0032420 9.1 ADGRV1 CDH23 CIB2 MYO7A PCDH15 USH1C
7 cytoplasm GO:0005737 10.25 ACTG1 ADGRV1 ASB10 CIB2 CXADR DCTN2

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.93 ADGRV1 CDH23 OMP RHO USH2A
2 sensory perception of sound GO:0007605 9.87 ADGRV1 CDH23 MYO7A PCDH15 USH1C USH1G
3 visual perception GO:0007601 9.85 ADGRV1 CDH23 MYO7A PCDH15 RHO USH2A
4 inner ear morphogenesis GO:0042472 9.69 MYO7A USH1C USH1G
5 inner ear receptor cell stereocilium organization GO:0060122 9.65 CDH23 MYO7A PCDH15 USH1C USH1G
6 inner ear auditory receptor cell differentiation GO:0042491 9.61 MYO7A PCDH15 USH1C
7 inner ear receptor cell differentiation GO:0060113 9.58 MYO7A USH1G USH2A
8 photoreceptor cell maintenance GO:0045494 9.56 ADGRV1 CDH23 CIB2 PCDH15 RHO USH1C
9 cellular protein complex assembly GO:0043623 9.55 ANKS4B USH1C
10 equilibrioception GO:0050957 9.55 CDH23 MYO7A PCDH15 USH1C USH1G
11 auditory receptor cell stereocilium organization GO:0060088 9.52 MYO7A PCDH15
12 maintenance of animal organ identity GO:0048496 9.49 ADGRV1 USH2A
13 brush border assembly GO:1904970 9.48 ANKS4B USH1C
14 protein localization to microvillus GO:1904106 9.46 ANKS4B USH1C
15 sensory perception of light stimulus GO:0050953 9.23 ADGRV1 CDH23 MYO7A PCDH15 RHO USH1C

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

# Name GO ID Score Top Affiliating Genes
1 motor activity GO:0003774 9.13 DCTN2 DYNC1I1 MYO7A
2 spectrin binding GO:0030507 9.02 DCTN2 DYNC1I1 MYO7A USH1C USH1G

Sources for Usher Syndrome, Type I

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....