USH1B
MCID: USH036
MIFTS: 60

Usher Syndrome, Type I (USH1B)

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 58 74
Usher Syndrome, Type 1b 58 54 30 13 6
Usher Syndrome, Type 1e 58 77 54 30 13
Ush1 58 12 25 54 60
Usher Syndrome, Type 1 54 30 6 41
Usher Syndrome, Type Ib 77 41 74
Usher Syndrome Type 1 12 60 15
Ush1e 58 12 54
Us1 58 12 54
Retinitis Pigmentosa and Congenital Deafness 58 54
Usher Syndrome, Type Ie 58 74
Usher Syndrome Type 1e 12 15
Usher Syndrome, Type I, French Variety 54
Usher's Syndrome Type 1b 76
Usher Syndrome, Type 1a 54
Usher Syndrome Type Ie 12
Usher Syndrome Type Ib 76
Usher Syndrome Type I 25
Usher Syndrome 1b 76
Ush1a 54
Ushib 76
Ush1b 76

Characteristics:

Orphanet epidemiological data:

60
usher syndrome type 1
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

58
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:

33
usher syndrome, type i:
Inheritance heterogeneous autosomal recessive inheritance

usher syndrome, type ie:
Inheritance autosomal recessive inheritance


GeneReviews:

25
Penetrance Penetrance is complete in usher syndrome type i...

Classifications:



Summaries for Usher Syndrome, Type I

NIH Rare Diseases : 54 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 ik, and has symptoms including unspecified visual loss An important gene associated with Usher Syndrome, Type I is MYO7A (Myosin VIIA). The drugs Dopamine and Bromocriptine have been mentioned in the context of this disorder. Affiliated tissues include retina, eye and testes, and related phenotypes are intellectual disability and ataxia

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

OMIM : 58 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 : 76 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 : 77 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 2 Usher Syndrome, Type 2b

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

(show all 44)
# Related Disease Score Top Affiliating Genes
1 usher syndrome, type ic 33.5 CDH23 CLRN1 MYO7A USH1C
2 usher syndrome, type ik 32.7 PCDH15 USH1K
3 usher syndrome, type ig 32.5 CDH23 MYO7A PCDH15 USH1G
4 usher syndrome, type if 32.4 CDH23 MYO7A PCDH15 USH1C USH1G
5 usher syndrome, type id 32.3 ADGRV1 CDH23 MYO7A PCDH15 USH1C USH1G
6 usher syndrome, type iia 32.3 GSK3B USH1C USH2A
7 usher syndrome, type iid 31.9 ADGRV1 CDH23 MYO7A PCDH15 RHO USH1C
8 usher syndrome, type iic 31.8 ADGRV1 CDH23 CLRN1 MYO7A PCDH15 USH1C
9 usher syndrome, type iiia 31.7 ADGRV1 CDH23 CLRN1 MYO7A PCDH15 USH1C
10 retinitis pigmentosa-deafness syndrome 31.4 ADGRV1 CDH23 MYO7A PCDH15 USH2A
11 usher syndrome 30.5 ADGRV1 CDH23 CIB2 CLRN1 MYO7A PCDH15
12 retinal degeneration 30.4 MYO7A RHO USH1C
13 retinal disease 30.4 IMPDH1 MYO7A RHO USH2A
14 nonsyndromic deafness 29.9 ACTG1 ADGRV1 CDH23 CIB2 ESPN MYO7A
15 retinitis pigmentosa 29.4 ADGRV1 CDH23 CIB2 CLRN1 IMPDH1 MYO7A
16 usher syndrome, type ih 11.4
17 usher syndrome, type ij 11.4
18 mohr-tranebjaerg syndrome 11.2
19 perrault syndrome 1 11.1
20 usher syndrome, type iiib 11.0
21 deafness, autosomal recessive 23 10.4 CDH23 MYO7A PCDH15
22 deafness, autosomal recessive 12 10.4 CDH23 MYO7A PCDH15
23 deafness, autosomal recessive 10.4 CIB2 PCDH15 USH1C
24 dfnb1 10.4 MYO7A PCDH15
25 auditory system disease 10.4 CDH23 MYO7A PCDH15 USH1C
26 deafness, autosomal recessive 85 10.4 CDH23 MYO7A
27 deafness, autosomal dominant 48 10.4 CIB2 MYO7A
28 deafness, autosomal dominant 20 10.4 ACTG1 ESPN USH1C USH1G
29 yemenite deaf-blind hypopigmentation syndrome 10.4 MYO7A RHO USH2A
30 branchiootic syndrome 1 10.4 CDH23 MYO7A USH1G USH2A
31 deafness, autosomal recessive 83 10.3 CDH23 MYO7A
32 nonsyndromic retinitis pigmentosa 10.3 CLRN1 USH2A
33 retinitis pigmentosa 10 10.3 ASB10 IMPDH1 RHO
34 bardet-biedl syndrome 10.3 CDH23 MYO7A PCDH15 USH1C
35 sensorineural hearing loss 10.2 CDH23 ESPN MYO7A PCDH15 USH2A
36 deafness, autosomal recessive 6 10.2 ADGRV1 GSK3B MYO7A USH2A
37 leber congenital amaurosis 10.2 IMPDH1 MYO7A RHO USH2A
38 autosomal recessive non-syndromic sensorineural deafness type dfnb 10.2 CDH23 CIB2 ESPN MYO7A PCDH15 USH1C
39 autosomal dominant nonsyndromic deafness 10.2 ACTG1 MYO7A
40 herpes simplex 10.2
41 leber congenital amaurosis 4 10.0
42 retinitis 10.0
43 bronchiectasis 10.0
44 usher syndrome type 2 9.8 ADGRV1 CDH23 CIB2 CLRN1 GSK3B MYO7A

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:

60 33 (show all 32)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
2 ataxia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001251
3 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
4 sensorineural hearing impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000407
5 abnormal electroretinogram 60 33 hallmark (90%) Very frequent (99-80%) HP:0000512
6 nyctalopia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000662
7 visual loss 60 33 hallmark (90%) Very frequent (99-80%) HP:0000572
8 iris hypopigmentation 60 33 hallmark (90%) Very frequent (99-80%) HP:0007730
9 scotoma 60 33 hallmark (90%) Very frequent (99-80%) HP:0000575
10 vestibular hypofunction 60 33 hallmark (90%) Very frequent (99-80%) HP:0001756
11 hemianopia 33 hallmark (90%) HP:0012377
12 abnormal cochlea morphology 33 hallmark (90%) HP:0000375
13 cataract 60 33 frequent (33%) Frequent (79-30%) HP:0000518
14 aplasia/hypoplasia of the cerebellum 60 33 frequent (33%) Frequent (79-30%) HP:0007360
15 schizophrenia 60 33 frequent (33%) Frequent (79-30%) HP:0100753
16 high hypermetropia 33 frequent (33%) HP:0008499
17 depressivity 60 33 occasional (7.5%) Occasional (29-5%) HP:0000716
18 hallucinations 60 33 occasional (7.5%) Occasional (29-5%) HP:0000738
19 anxiety 60 33 occasional (7.5%) Occasional (29-5%) HP:0000739
20 cerebral cortical atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0002120
21 abnormality of dental enamel 60 33 occasional (7.5%) Occasional (29-5%) HP:0000682
22 subcortical cerebral atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0012157
23 hemianopsia 60 Very frequent (99-80%)
24 motor delay 33 HP:0001270
25 areflexia 33 HP:0001284
26 high-grade hypermetropia 60 Frequent (79-30%)
27 abnormality of cochlea 60 Very frequent (99-80%)
28 rod-cone dystrophy 33 HP:0000510
29 congenital sensorineural hearing impairment 33 HP:0008527
30 vestibular areflexia 33 HP:0008568
31 undetectable electroretinogram 33 HP:0000550
32 absent vestibular function 33 HP:0008555

Symptoms via clinical synopsis from OMIM:

58
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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.07 ACTG1 ADGRV1 CDH23 CIB2 CLRN1 CXADR
2 hearing/vestibular/ear MP:0005377 9.9 ACTG1 ADGRV1 CDH23 CIB2 CLRN1 ESPN
3 nervous system MP:0003631 9.8 ACTG1 ADGRV1 CDH23 CIB2 CLRN1 ESPN
4 vision/eye MP:0005391 9.4 ADGRV1 CDH23 CIB2 CLRN1 IMPDH1 MYO10

Drugs & Therapeutics for Usher Syndrome, Type I

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

(show all 41)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 3 62-31-7, 51-61-6 681
2
Bromocriptine Approved, Investigational Phase 3 25614-03-3 31101
3
Lactitol Investigational Phase 3 585-86-4, 585-88-6 493591
4 Dopamine Agents Phase 3
5 Dopamine agonists Phase 3
6 Antiparkinson Agents Phase 3
7 Hormones Phase 3
8 Neurotransmitter Agents Phase 3
9 Hormone Antagonists Phase 3
10 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
11 Heptavalent Pneumococcal Conjugate Vaccine Phase 3
12 Immunologic Factors Phase 3
13 Vaccines Phase 3
14
Docetaxel Approved, Investigational Phase 2 114977-28-5 148124
15
Irinotecan Approved, Investigational Phase 2 100286-90-6, 97682-44-5 60838
16 Topoisomerase Inhibitors Phase 2
17 Antimitotic Agents Phase 2
18 topoisomerase I inhibitors Phase 2
19 Antiviral Agents Phase 1
20 tyrosine Phase 1
21
Micafungin Approved, Investigational 235114-32-6 477468 3081921
22
Itraconazole Approved, Investigational 84625-61-6 55283
23
Fluconazole Approved, Investigational 86386-73-4 3365
24
Caspofungin Approved 179463-17-3, 162808-62-0 2826718 468682
25
Amphotericin B Approved, Investigational 1397-89-3 14956 5280965
26
Miconazole Approved, Investigational, Vet_approved 22916-47-8 4189
27
Voriconazole Approved, Investigational 137234-62-9 71616
28
Anidulafungin Approved, Investigational 166663-25-8 166548
29 Antiparasitic Agents
30 Antiprotozoal Agents
31 Antifungal Agents
32 Cytochrome P-450 CYP2C9 Inhibitors
33 Cytochrome P-450 CYP3A Inhibitors
34 Anti-Bacterial Agents
35 Liposomal amphotericin B
36
Hydroxyitraconazole
37 Cytochrome P-450 Enzyme Inhibitors
38 Anti-Infective Agents
39 Steroid Synthesis Inhibitors
40 Insulin, Globin Zinc Not Applicable
41 insulin Not Applicable

Interventional clinical trials:

(show all 18)
# 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 SAR421869 in Patients With Retinitis Pigmentosa Associated With Usher Syndrome Type 1B Recruiting NCT01505062 Phase 1, Phase 2
5 An Open-label, Dose Escalation Trial to Evaluate the Safety and Pharmacokinetics of HMPL-523 in Patients With Lymphoma Recruiting NCT03779113 Phase 1, Phase 2 HMPL-523
6 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
7 Trial to Evaluate the Safety and Pharmacokinetics of HMPL-689 in Patients With Lymphomas Not yet recruiting NCT03786926 Phase 1, Phase 2 HMPL-689
8 The Safety and Effectiveness of SPC3 in HIV-1 Infected Patients Completed NCT00002363 Phase 1 Peptide Construction 3, Synthetic
9 The Evaluation of Safety, Tolerability, and Pharmacokinetics for Fruquintinib in Solid Tumors Recruiting NCT03251378 Phase 1 Fruquintinib (HMPL-013)
10 A Multi-Center, Open-Label Study of Sulfatinib(HMPL-012) in Patients With Advanced Solid Tumors Recruiting NCT02549937 Phase 1 sulfatinib
11 [Trial of device that is not approved or cleared by the U.S. FDA] Withheld NCT02631213
12 A Test of the Comparison Between Trans-rectal and Trans-perineal Biopsy of Prostate Unknown status NCT01849835 Not Applicable
13 24 Hour Use of the Wearable Artificial Kidney Completed NCT02280005 Not Applicable
14 Study of Usher Syndromes, Type 1 and Type 2 Completed NCT00001347
15 Short and Long-term Safety of Micafungin and Other Parenteral Antifungal Agents Completed NCT01686607 Parenteral micafungin application;Other parenteral antifungal drugs
16 Use of Thoracoscopic Intraoperative Lung Ultrasound to Identify Pulmonary Metastases in Patients Submitted to Pulmonary Metastasectomy With Radical Intent. Recruiting NCT03864874
17 Natural History Study in Subjects With Usher Syndrome Recruiting NCT03814499
18 T1 Diabetes Hypoglycemia Prevention Pilot Terminated NCT02682940 Not Applicable

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 30 MYO7A USH1C
2 Usher Syndrome, Type 1b 30
3 Usher Syndrome, Type 1e 30

Anatomical Context for Usher Syndrome, Type I

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

42
Retina, Eye, Testes, Kidney, Cerebellum, Bone

Publications for Usher Syndrome, Type I

Articles related to Usher Syndrome, Type I:

(show all 42)
# Title Authors Year
1
Novel compound heterozygous CDH23 variants in a patient with Usher syndrome type I. ( 30774966 )
2019
2
Severe retinal degeneration at an early age in Usher syndrome type 1B associated with homozygous splice site mutations in MYO7A gene. ( 29942180 )
2018
3
Usher syndrome Type I in an adult Nepalese male: a rare case report. ( 29634714 )
2017
4
Targeted exon sequencing in Usher syndrome type I. ( 25468891 )
2014
5
EIAV-based retinal gene therapy in the shaker1 mouse model for usher syndrome type 1B: development of UshStat. ( 24705452 )
2014
6
Gene therapy strategies for Usher syndrome type 1B. ( 22183338 )
2012
7
Mutation screening of the PCDH15 gene in Spanish patients with Usher syndrome type I. ( 22815625 )
2012
8
Evidence of genetic heterogeneity in Alberta Hutterites with Usher syndrome type I. ( 22690115 )
2012
9
Cadherin-23, myosin VIIa and harmonin, encoded by Usher syndrome type I genes, form a ternary complex and interact with membrane phospholipids. ( 20639393 )
2010
10
Long-term ophthalmic health care in Usher syndrome type I from an ICF perspective. ( 19280439 )
2009
11
"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
12
Mutation profile of the CDH23 gene in 56 probands with Usher syndrome type I. ( 18429043 )
2008
13
Lentiviral gene replacement therapy of retinas in a mouse model for Usher syndrome type 1B. ( 17268537 )
2007
14
MYO7A mutation screening in Usher syndrome type I patients from diverse origins. ( 17361009 )
2007
15
Photodynamic treatment of a secondary vasoproliferative tumour associated with sector retinitis pigmentosa and Usher syndrome type I. ( 17362466 )
2007
16
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
17
Quality of life and cochlear implantation in Usher syndrome type I. ( 16652078 )
2006
18
Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I. ( 16470552 )
2006
19
Audiologic performance and benefit of cochlear implantation in Usher syndrome type I. ( 16652077 )
2006
20
Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population. ( 15660226 )
2005
21
Identification of a rat model for usher syndrome type 1B by N-ethyl-N-nitrosourea mutagenesis-driven forward genetics. ( 15965244 )
2005
22
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
23
A novel locus for Usher syndrome type I, USH1G, maps to chromosome 17q24-25. ( 11941484 )
2002
24
Origin of vestibular dysfunction in Usher syndrome type 1B. ( 11162241 )
2001
25
Electroretinographic anomalies in mice with mutations in Myo7a, the gene involved in human Usher syndrome type 1B. ( 11222540 )
2001
26
Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I. ( 10930322 )
2000
27
Histopathologic features of the temporal bone in usher syndrome type I. ( 10922238 )
2000
28
The cochlear nuclei in two patients with Usher syndrome type I. ( 10595664 )
1999
29
Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity. ( 10094549 )
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
Human olfactory marker protein maps close to tyrosinase and is a candidate gene for Usher syndrome type I. ( 8499899 )
1993
38
Usher syndrome type I associated with bronchiectasis and immotile nasal cilia in two brothers. ( 8474110 )
1993
39
A gene for Usher syndrome type I (USH1A) maps to chromosome 14q. ( 1478676 )
1992
40
Localization of two genes for Usher syndrome type I to chromosome 11. ( 1478678 )
1992
41
Linkage of Usher syndrome type I gene (USH1B) to the long arm of chromosome 11. ( 1478677 )
1992
42
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:

76 (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
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.Arg756Trp VAR_024048 rs782174733
29 MYO7A p.Glu968Asp VAR_024049 rs111033233
30 MYO7A p.Arg1743Trp VAR_024051 rs111033287
31 MYO7A p.Leu1858Pro VAR_024052 rs368657015
32 MYO7A p.Arg1883Gln VAR_024053 rs111033215
33 MYO7A p.Pro1887Leu VAR_024054 rs199606180
34 MYO7A p.Gly2187Asp VAR_024055 rs397516332
35 MYO7A p.His133Asp VAR_027301 rs111033403
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

ClinVar genetic disease variations for Usher Syndrome, Type I:

6 (show top 50) (show all 715)
# Gene Variation Type Significance SNP ID Assembly Location
1 ADGRV1 NM_032119.3(ADGRV1): c.16377G> T (p.Gln5459His) single nucleotide variant Conflicting interpretations of pathogenicity rs371947306 GRCh37 Chromosome 5, 90124769: 90124769
2 ADGRV1 NM_032119.3(ADGRV1): c.16377G> T (p.Gln5459His) single nucleotide variant Conflicting interpretations of pathogenicity rs371947306 GRCh38 Chromosome 5, 90828952: 90828952
3 MYO7A NM_000260.3: c.(?_6355)_(6648_?)del deletion Pathogenic GRCh38 Chromosome 11, 77212952: 77214696
4 MYO7A NM_000260.3: c.(?_6355)_(6648_?)del deletion Pathogenic GRCh37 Chromosome 11, 76923997: 76925741
5 MYO7A NM_000260.3(MYO7A): c.3669C> T (p.Tyr1223=) single nucleotide variant Likely benign rs727504631 GRCh38 Chromosome 11, 77190058: 77190058
6 MYO7A NM_000260.3(MYO7A): c.3669C> T (p.Tyr1223=) single nucleotide variant Likely benign rs727504631 GRCh37 Chromosome 11, 76901103: 76901103
7 MYO7A NM_000260.3(MYO7A): c.3856G> A (p.Ala1286Thr) single nucleotide variant Uncertain significance rs727503328 GRCh37 Chromosome 11, 76901847: 76901847
8 MYO7A NM_000260.3(MYO7A): c.3856G> A (p.Ala1286Thr) single nucleotide variant Uncertain significance rs727503328 GRCh38 Chromosome 11, 77190802: 77190802
9 MYO7A NM_000260.3(MYO7A): c.4153-11C> T single nucleotide variant Conflicting interpretations of pathogenicity rs727503330 GRCh37 Chromosome 11, 76905388: 76905388
10 MYO7A NM_000260.3(MYO7A): c.4153-11C> T single nucleotide variant Conflicting interpretations of pathogenicity rs727503330 GRCh38 Chromosome 11, 77194343: 77194343
11 MYO7A NM_000260.3(MYO7A): c.5095C> G (p.Gln1699Glu) single nucleotide variant Uncertain significance rs530520654 GRCh38 Chromosome 11, 77202351: 77202351
12 MYO7A NM_000260.3(MYO7A): c.5095C> G (p.Gln1699Glu) single nucleotide variant Uncertain significance rs530520654 GRCh37 Chromosome 11, 76913396: 76913396
13 MYO7A NM_000260.3(MYO7A): c.3827C> T (p.Ser1276Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs369458838 GRCh37 Chromosome 11, 76901818: 76901818
14 MYO7A NM_000260.3(MYO7A): c.3827C> T (p.Ser1276Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs369458838 GRCh38 Chromosome 11, 77190773: 77190773
15 MYO7A NM_000260.3(MYO7A): c.3892G> A (p.Gly1298Arg) single nucleotide variant Likely pathogenic rs727503329 GRCh37 Chromosome 11, 76901883: 76901883
16 MYO7A NM_000260.3(MYO7A): c.3892G> A (p.Gly1298Arg) single nucleotide variant Likely pathogenic rs727503329 GRCh38 Chromosome 11, 77190838: 77190838
17 MYO7A NM_000260.3(MYO7A): c.3979G> A (p.Glu1327Lys) single nucleotide variant Likely pathogenic rs373169422 GRCh37 Chromosome 11, 76903150: 76903150
18 MYO7A NM_000260.3(MYO7A): c.3979G> A (p.Glu1327Lys) single nucleotide variant Likely pathogenic rs373169422 GRCh38 Chromosome 11, 77192105: 77192105
19 MYO7A NM_000260.3(MYO7A): c.4153-8C> G single nucleotide variant Conflicting interpretations of pathogenicity rs143216377 GRCh38 Chromosome 11, 77194346: 77194346
20 MYO7A NM_000260.3(MYO7A): c.4153-8C> G single nucleotide variant Conflicting interpretations of pathogenicity rs143216377 GRCh37 Chromosome 11, 76905391: 76905391
21 MYO7A NM_000260.3(MYO7A): c.4153-7C> A single nucleotide variant Uncertain significance rs369489756 GRCh37 Chromosome 11, 76905392: 76905392
22 MYO7A NM_000260.3(MYO7A): c.4153-7C> A single nucleotide variant Uncertain significance rs369489756 GRCh38 Chromosome 11, 77194347: 77194347
23 MYO7A NM_000260.3(MYO7A): c.5464A> C (p.Thr1822Pro) single nucleotide variant Likely pathogenic rs727504541 GRCh38 Chromosome 11, 77204213: 77204213
24 MYO7A NM_000260.3(MYO7A): c.5464A> C (p.Thr1822Pro) single nucleotide variant Likely pathogenic rs727504541 GRCh37 Chromosome 11, 76915258: 76915258
25 MYO7A NM_000260.3(MYO7A): c.5857-3C> A single nucleotide variant Uncertain significance rs727505114 GRCh38 Chromosome 11, 77208427: 77208427
26 MYO7A NM_000260.3(MYO7A): c.5857-3C> A single nucleotide variant Uncertain significance rs727505114 GRCh37 Chromosome 11, 76919472: 76919472
27 MYO7A NM_000260.3(MYO7A): c.6231_6232insG (p.Lys2078Glufs) duplication Pathogenic rs730880367 GRCh38 Chromosome 11, 77211331: 77211331
28 MYO7A NM_000260.3(MYO7A): c.6231_6232insG (p.Lys2078Glufs) duplication Pathogenic rs730880367 GRCh37 Chromosome 11, 76922376: 76922376
29 MYO7A NM_000260.3(MYO7A): c.5899C> T (p.Arg1967Ter) single nucleotide variant Pathogenic/Likely pathogenic rs376764423 GRCh37 Chromosome 11, 76919517: 76919517
30 MYO7A NM_000260.3(MYO7A): c.5899C> T (p.Arg1967Ter) single nucleotide variant Pathogenic/Likely pathogenic rs376764423 GRCh38 Chromosome 11, 77208472: 77208472
31 MYO7A NM_000260.3(MYO7A): c.6326C> T (p.Thr2109Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs377670513 GRCh37 Chromosome 11, 76922954: 76922954
32 MYO7A NM_000260.3(MYO7A): c.6326C> T (p.Thr2109Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs377670513 GRCh38 Chromosome 11, 77211909: 77211909
33 MYO7A NM_000260.3(MYO7A): c.284A> T (p.Tyr95Phe) single nucleotide variant Likely pathogenic rs797044489 GRCh37 Chromosome 11, 76858995: 76858995
34 MYO7A NM_000260.3(MYO7A): c.284A> T (p.Tyr95Phe) single nucleotide variant Likely pathogenic rs797044489 GRCh38 Chromosome 11, 77147949: 77147949
35 MYO7A NM_000260.3(MYO7A): c.397C> A (p.His133Asn) single nucleotide variant Uncertain significance rs111033403 GRCh37 Chromosome 11, 76867064: 76867064
36 MYO7A NM_000260.3(MYO7A): c.397C> A (p.His133Asn) single nucleotide variant Uncertain significance rs111033403 GRCh38 Chromosome 11, 77156018: 77156018
37 MYO7A NM_000260.3(MYO7A): c.973_976delATCC (p.Ile325Cysfs) deletion Pathogenic rs797044490 GRCh37 Chromosome 11, 76869446: 76869449
38 MYO7A NM_000260.3(MYO7A): c.973_976delATCC (p.Ile325Cysfs) deletion Pathogenic rs797044490 GRCh38 Chromosome 11, 77158400: 77158403
39 MYO7A NM_000260.3(MYO7A): c.977T> A (p.Leu326Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs797044491 GRCh37 Chromosome 11, 76869450: 76869450
40 MYO7A NM_000260.3(MYO7A): c.977T> A (p.Leu326Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs797044491 GRCh38 Chromosome 11, 77158404: 77158404
41 MYO7A NM_000260.3(MYO7A): c.1123C> G (p.Leu375Val) single nucleotide variant Uncertain significance rs782728522 GRCh37 Chromosome 11, 76871251: 76871251
42 MYO7A NM_000260.3(MYO7A): c.1123C> G (p.Leu375Val) single nucleotide variant Uncertain significance rs782728522 GRCh38 Chromosome 11, 77160205: 77160205
43 MYO7A NM_000260.3(MYO7A): c.1726G> A (p.Asp576Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs187165412 GRCh37 Chromosome 11, 76877137: 76877137
44 MYO7A NM_000260.3(MYO7A): c.1726G> A (p.Asp576Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs187165412 GRCh38 Chromosome 11, 77166091: 77166091
45 MYO7A NM_000260.3(MYO7A): c.2488C> T (p.Arg830Cys) single nucleotide variant Uncertain significance rs797044493 GRCh37 Chromosome 11, 76890901: 76890901
46 MYO7A NM_000260.3(MYO7A): c.2488C> T (p.Arg830Cys) single nucleotide variant Uncertain significance rs797044493 GRCh38 Chromosome 11, 77179855: 77179855
47 MYO7A NM_000260.3(MYO7A): c.470+1G> A single nucleotide variant Pathogenic rs797044510 GRCh37 Chromosome 11, 76867138: 76867138
48 MYO7A NM_000260.3(MYO7A): c.470+1G> A single nucleotide variant Pathogenic rs797044510 GRCh38 Chromosome 11, 77156092: 77156092
49 MYO7A NM_000260.3(MYO7A): c.73G> A (p.Gly25Arg) single nucleotide variant Pathogenic/Likely pathogenic rs782252317 GRCh37 Chromosome 11, 76853809: 76853809
50 MYO7A NM_000260.3(MYO7A): c.73G> A (p.Gly25Arg) single nucleotide variant Pathogenic/Likely pathogenic rs782252317 GRCh38 Chromosome 11, 77142763: 77142763

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 13)
# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.97 CIB2 ESPN MYO10 RHO USH1C USH2A
2 microvillus GO:0005902 9.62 CLRN1 ESPN MYO7A USH1C
3 photoreceptor connecting cilium GO:0032391 9.56 MYO7A USH1C USH1G USH2A
4 photoreceptor outer segment GO:0001750 9.55 CIB2 MYO7A PCDH15 RHO USH1C
5 filamentous actin GO:0031941 9.52 ACTG1 ESPN
6 stereocilium tip GO:0032426 9.51 ESPN USH1C
7 stereocilium bundle GO:0032421 9.46 ESPN USH2A
8 photoreceptor inner segment GO:0001917 9.43 CIB2 MYO7A RHO USH1C USH1G USH2A
9 stereocilia ankle link GO:0002141 9.4 USH1C USH2A
10 stereocilia ankle link complex GO:0002142 9.37 USH1C USH2A
11 stereocilium GO:0032420 9.23 ADGRV1 CDH23 CIB2 CLRN1 ESPN MYO7A
12 cytoplasm GO:0005737 10.32 ACTG1 ADGRV1 ASB10 CIB2 CXADR ESPN
13 plasma membrane GO:0005886 10.25 ACTG1 ADGRV1 CDH23 CIB2 CLRN1 CXADR

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.93 ADGRV1 CDH23 CLRN1 RHO USH2A
2 visual perception GO:0007601 9.91 ADGRV1 CDH23 CLRN1 MYO7A PCDH15 RHO
3 sensory perception of sound GO:0007605 9.91 ADGRV1 CDH23 CLRN1 ESPN MYO7A PCDH15
4 photoreceptor cell maintenance GO:0045494 9.81 ADGRV1 CDH23 CIB2 CLRN1 PCDH15 RHO
5 inner ear receptor cell stereocilium organization GO:0060122 9.72 CDH23 MYO7A PCDH15 USH1C USH1G
6 locomotory behavior GO:0007626 9.7 CDH23 ESPN PCDH15
7 inner ear morphogenesis GO:0042472 9.69 MYO7A USH1C USH1G
8 auditory receptor cell stereocilium organization GO:0060088 9.63 CLRN1 MYO7A PCDH15
9 inner ear auditory receptor cell differentiation GO:0042491 9.61 MYO7A PCDH15 USH1C
10 sensory perception of light stimulus GO:0050953 9.61 ADGRV1 CDH23 CLRN1 MYO7A PCDH15 RHO
11 inner ear receptor cell differentiation GO:0060113 9.58 MYO7A USH1G USH2A
12 maintenance of animal organ identity GO:0048496 9.49 ADGRV1 USH2A
13 parallel actin filament bundle assembly GO:0030046 9.48 ESPN USH1C
14 equilibrioception GO:0050957 9.1 CDH23 CLRN1 MYO7A PCDH15 USH1C USH1G

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 ESPN MYO10 MYO7A USH1C
2 actin-dependent ATPase activity GO:0030898 9.16 MYO10 MYO7A
3 spectrin binding GO:0030507 8.92 MYO10 MYO7A USH1C USH1G

Sources for Usher Syndrome, Type I

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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