MCID: USH036
MIFTS: 60

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 57 73
Usher Syndrome, Type 1b 57 53 29 13 6
Usher Syndrome, Type 1e 57 76 53 29 13
Usher Syndrome, Type 1 53 29 6 40
Ush1 57 12 53 59
Usher Syndrome Type 1 12 59 15
Ush1e 57 12 53
Us1 57 12 53
Retinitis Pigmentosa and Congenital Deafness 57 53
Usher Syndrome, Type Ie 57 73
Usher Syndrome, Type Ib 76 73
Usher Syndrome Type 1e 12 15
Usher Syndrome, Type I, French Variety 53
Usher's Syndrome Type 1b 75
Usher Syndrome, Type 1a 53
Usher Syndrome Type Ie 12
Usher Syndrome Type Ib 75
Usher Syndrome Type I 24
Usher Syndrome 1b 75
Ush1a 53
Ushib 75
Ush1b 75

Characteristics:

Orphanet epidemiological data:

59
usher syndrome type 1
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

57
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:

32
usher syndrome, type i:
Inheritance heterogeneous autosomal recessive inheritance

usher syndrome, type ie:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Usher Syndrome, Type I

NIH Rare Diseases : 53 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 Bromocriptine and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include retina, eye and testes, and related phenotypes are depressivity and intellectual disability

OMIM : 57 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 : 75 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 : 76 Usher syndrome, also known as Hallgren syndrome, Usher-Hallgren syndrome, retinitis pigmentosa-dysacusis... more...

GeneReviews:

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 37)
# Related Disease Score Top Affiliating Genes
1 usher syndrome, type ic 34.1 CDH23 MYO7A USH1C
2 usher syndrome, type ik 33.0 PCDH15 USH1K
3 usher syndrome, type if 32.5 CDH23 MYO7A PCDH15 USH1C USH1G
4 usher syndrome, type iia 32.2 GSK3B USH1C USH2A
5 usher syndrome, type id 31.8 ADGRV1 CDH23 MYO7A PCDH15 USH1C USH1G
6 retinitis pigmentosa-deafness syndrome 31.7 ADGRV1 CDH23 MYO7A PCDH15
7 usher syndrome, type iid 31.6 ADGRV1 CDH23 MYO7A PCDH15 USH1C USH1G
8 usher syndrome, type iic 31.0 ADGRV1 CDH23 CLRN1 MYO7A PCDH15 USH1C
9 usher syndrome 28.8 ADGRV1 CDH23 CIB2 CLRN1 MYO7A PCDH15
10 retinitis pigmentosa 27.6 ADGRV1 ARR3 CDH23 CIB2 CLRN1 DCTN2
11 usher syndrome, type ih 11.2
12 usher syndrome, type ij 11.2
13 deafness, autosomal recessive 23 10.9 CDH23 MYO7A PCDH15
14 deafness, autosomal recessive 12 10.8 CDH23 MYO7A PCDH15
15 deafness, autosomal dominant 20 10.8 ACTG1 USH1C USH1G
16 dfnb1 10.8 MYO7A PCDH15
17 auditory system disease 10.8 CDH23 MYO7A PCDH15
18 usher syndrome, type ig 10.8 CDH23 MYO7A PCDH15 USH1G
19 retinal disease 10.6 MYO7A PCDH15 USH1C USH2A
20 type i 10.6
21 deafness, autosomal dominant 48 10.5 CIB2 MYO7A
22 deafness, autosomal recessive 85 10.5 CDH23 MYO7A
23 sensorineural hearing loss 10.5 CDH23 MYO7A PCDH15 USH2A
24 autosomal recessive non-syndromic sensorineural deafness type dfnb 10.5 CDH23 CIB2 MYO7A PCDH15 USH1C
25 nonsyndromic retinitis pigmentosa 10.5 CLRN1 USH2A
26 bardet-biedl syndrome 10.4 CDH23 MYO7A PCDH15 USH1C
27 retinitis pigmentosa 10 10.4 ASB10 IMPDH1
28 deafness, autosomal recessive 83 10.3 CDH23 MYO7A
29 deafness, autosomal recessive 6 10.2 ADGRV1 GSK3B MYO7A USH2A
30 leber congenital amaurosis 10.2 ARR3 IMPDH1 MYO7A USH2A
31 herpes simplex 10.0
32 leber congenital amaurosis 4 9.8
33 retinitis 9.8
34 bronchiectasis 9.8
35 usher syndrome, type iiia 9.6 ADGRV1 CDH23 CLRN1 MYO7A PCDH15 USH1C
36 nonsyndromic deafness 9.6 ACTG1 ADGRV1 CDH23 CIB2 MYO7A PCDH15
37 usher syndrome type 2 9.0 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

Symptoms via clinical synopsis from OMIM:

57
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:

59 32 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 depressivity 59 32 occasional (7.5%) Occasional (29-5%) HP:0000716
2 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
3 ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001251
4 cataract 59 32 frequent (33%) Frequent (79-30%) HP:0000518
5 hallucinations 59 32 occasional (7.5%) Occasional (29-5%) HP:0000738
6 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
7 sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000407
8 abnormal electroretinogram 59 32 hallmark (90%) Very frequent (99-80%) HP:0000512
9 anxiety 59 32 occasional (7.5%) Occasional (29-5%) HP:0000739
10 nyctalopia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000662
11 cerebral cortical atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0002120
12 aplasia/hypoplasia of the cerebellum 59 32 frequent (33%) Frequent (79-30%) HP:0007360
13 visual loss 59 32 hallmark (90%) Very frequent (99-80%) HP:0000572
14 abnormality of dental enamel 59 32 occasional (7.5%) Occasional (29-5%) HP:0000682
15 schizophrenia 59 32 frequent (33%) Frequent (79-30%) HP:0100753
16 iris hypopigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007730
17 subcortical cerebral atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0012157
18 scotoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0000575
19 vestibular hypofunction 59 32 hallmark (90%) Very frequent (99-80%) HP:0001756
20 hemianopsia 59 Very frequent (99-80%)
21 high-grade hypermetropia 59 Frequent (79-30%)
22 abnormality of cochlea 59 Very frequent (99-80%)
23 congenital sensorineural hearing impairment 32 HP:0008527
24 motor delay 32 HP:0001270
25 rod-cone dystrophy 32 HP:0000510
26 vestibular areflexia 32 HP:0008568
27 high hypermetropia 32 frequent (33%) HP:0008499
28 undetectable electroretinogram 32 HP:0000550
29 hemianopia 32 hallmark (90%) HP:0012377
30 absent vestibular function 32 HP:0008555
31 abnormal cochlea morphology 32 hallmark (90%) HP:0000375

UMLS symptoms related to Usher Syndrome, Type I:


unspecified visual loss

MGI Mouse Phenotypes related to Usher Syndrome, Type I:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.03 ACTG1 ADGRV1 CDH23 CIB2 CLRN1 CXADR
2 hearing/vestibular/ear MP:0005377 9.85 ACTG1 ADGRV1 CDH23 CIB2 CLRN1 MYO7A
3 nervous system MP:0003631 9.73 ACTG1 ADGRV1 CDH23 CIB2 CLRN1 GSK3B
4 vision/eye MP:0005391 9.36 ADGRV1 ARR3 CDH23 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 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
Docetaxel Approved, Investigational Phase 2 114977-28-5 148124
14
Irinotecan Approved, Investigational Phase 2 97682-44-5, 100286-90-6 60838
15
Camptothecin Experimental Phase 2 7689-03-4
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 Not Applicable 2216-51-5 16666
23
Amphotericin B Approved, Investigational 1397-89-3 14956 5280965
24
Anidulafungin Approved, Investigational 166663-25-8 166548
25
Caspofungin Approved 179463-17-3, 162808-62-0 468682 2826718
26
Fluconazole Approved, Investigational 86386-73-4 3365
27
Itraconazole Approved, Investigational 84625-61-6 55283
28
Micafungin Approved, Investigational 235114-32-6 3081921 477468
29
Miconazole Approved, Investigational, Vet_approved 22916-47-8 4189
30
Voriconazole Approved, Investigational 137234-62-9 71616
31 Antipruritics Not Applicable
32 Dermatologic Agents Not Applicable
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 Not Applicable
46 Insulin, Globin Zinc Not Applicable

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 Not Applicable
11 24 Hour Use of the Wearable Artificial Kidney Completed NCT02280005 Not Applicable
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 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 29 MYO7A USH1C
2 Usher Syndrome, Type 1b 29
3 Usher Syndrome, Type 1e 29

Anatomical Context for Usher Syndrome, Type I

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

41
Retina, Eye, Testes, Lung, Kidney, Prostate, Cerebellum

Publications for Usher Syndrome, Type I

Articles related to Usher Syndrome, Type I:

(show all 45)
# Title Authors Year
1
Severe retinal degeneration at an early age in Usher syndrome type 1B associated with homozygous splice site mutations in MYO7A gene. ( 29942180 )
2018
2
Usher syndrome Type I in an adult Nepalese male: a rare case report. ( 29634714 )
2017
3
Targeted exon sequencing in Usher syndrome type I. ( 25468891 )
2014
4
EIAV-based retinal gene therapy in the shaker1 mouse model for usher syndrome type 1B: development of UshStat. ( 24705452 )
2014
5
The giant spectrin I^V couples the molecular motors to phototransduction and Usher syndrome type I proteins along their trafficking route. ( 23704327 )
2013
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
Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively. ( 12112664 )
2002
25
Origin of vestibular dysfunction in Usher syndrome type 1B. ( 11162241 )
2001
26
Electroretinographic anomalies in mice with mutations in Myo7a, the gene involved in human Usher syndrome type 1B. ( 11222540 )
2001
27
Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I. ( 10930322 )
2000
28
Histopathologic features of the temporal bone in usher syndrome type I. ( 10922238 )
2000
29
The cochlear nuclei in two patients with Usher syndrome type I. ( 10595664 )
1999
30
Hearing impairment related to age in Usher syndrome types 1B and 2A. ( 10208682 )
1999
31
Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity. ( 10094549 )
1999
32
Linkage analysis in Usher syndrome type I (USH1) families from Spain. ( 9610802 )
1998
33
Map refinement of the Usher syndrome type 1B gene, MYO7A, relative to 11q13.5 microsatellite markers. ( 9761396 )
1998
34
A newly identified locus for Usher syndrome type I, USH1E, maps to chromosome 21q21. ( 9002666 )
1997
35
Evidence for a fourth locus in Usher syndrome type I. ( 8825055 )
1996
36
Defective myosin VIIA gene responsible for Usher syndrome type 1B. ( 7870171 )
1995
37
Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type 1B. ( 7568224 )
1995
38
Tightly linked flanking microsatellite markers for the Usher syndrome type I locus on the short arm of chromosome 11. ( 8128966 )
1994
39
Human olfactory marker protein maps close to tyrosinase and is a candidate gene for Usher syndrome type I. ( 8499899 )
1993
40
Usher syndrome type I associated with bronchiectasis and immotile nasal cilia in two brothers. ( 8474110 )
1993
41
Usher Syndrome Type I ( 20301442 )
1993
42
A gene for Usher syndrome type I (USH1A) maps to chromosome 14q. ( 1478676 )
1992
43
Localization of two genes for Usher syndrome type I to chromosome 11. ( 1478678 )
1992
44
Linkage of Usher syndrome type I gene (USH1B) to the long arm of chromosome 11. ( 1478677 )
1992
45
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:

75 (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
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
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
36 MYO7A p.Gly163Arg VAR_027302
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
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 289)
# Gene Variation Type Significance SNP ID Assembly Location
1 USH1G NM_173477.4(USH1G): c.832_851del20 (p.Ser278Profs) deletion Pathogenic rs397515345 GRCh37 Chromosome 17, 72916080: 72916099
2 USH1G NM_173477.4(USH1G): c.832_851del20 (p.Ser278Profs) deletion Pathogenic rs397515345 GRCh38 Chromosome 17, 74919985: 74920004
3 USH1G NM_173477.4(USH1G): c.394dupG (p.Val132Glyfs) duplication Pathogenic rs587776546 GRCh37 Chromosome 17, 72916537: 72916537
4 USH1G NM_173477.4(USH1G): c.394dupG (p.Val132Glyfs) duplication Pathogenic rs587776546 GRCh38 Chromosome 17, 74920442: 74920442
5 CDH23 NM_022124.5(CDH23): c.193delC (p.Leu65Trpfs) deletion Pathogenic rs796051861 GRCh37 Chromosome 10, 73269886: 73269886
6 CDH23 NM_022124.5(CDH23): c.193delC (p.Leu65Trpfs) deletion Pathogenic rs796051861 GRCh38 Chromosome 10, 71510129: 71510129
7 PCDH15 NM_033056.3(PCDH15): c.733C> T (p.Arg245Ter) single nucleotide variant Pathogenic rs111033260 GRCh37 Chromosome 10, 56077174: 56077174
8 PCDH15 NM_033056.3(PCDH15): c.733C> T (p.Arg245Ter) single nucleotide variant Pathogenic rs111033260 GRCh38 Chromosome 10, 54317414: 54317414
9 USH1C NM_005709.3(USH1C): c.238dupC (p.Arg80Profs) duplication Pathogenic rs397515359 GRCh37 Chromosome 11, 17552956: 17552956
10 USH1C NM_005709.3(USH1C): c.238dupC (p.Arg80Profs) duplication Pathogenic rs397515359 GRCh38 Chromosome 11, 17531409: 17531409
11 USH1C NM_005709.3(USH1C): c.216G> A (p.Val72=) single nucleotide variant Pathogenic rs151045328 GRCh37 Chromosome 11, 17552978: 17552978
12 USH1C NM_005709.3(USH1C): c.216G> A (p.Val72=) single nucleotide variant Pathogenic rs151045328 GRCh38 Chromosome 11, 17531431: 17531431
13 MYO7A NM_000260.3(MYO7A): c.1797G> A (p.Met599Ile) single nucleotide variant Pathogenic rs121965082 GRCh37 Chromosome 11, 76877208: 76877208
14 MYO7A NM_000260.3(MYO7A): c.448C> T (p.Arg150Ter) single nucleotide variant Pathogenic rs121965079 GRCh37 Chromosome 11, 76867115: 76867115
15 MYO7A NM_000260.3(MYO7A): c.448C> T (p.Arg150Ter) single nucleotide variant Pathogenic rs121965079 GRCh38 Chromosome 11, 77156069: 77156069
16 MYO7A NM_000260.3(MYO7A): c.700C> T (p.Gln234Ter) single nucleotide variant Pathogenic rs41298133 GRCh37 Chromosome 11, 76868015: 76868015
17 MYO7A NM_000260.3(MYO7A): c.700C> T (p.Gln234Ter) single nucleotide variant Pathogenic rs41298133 GRCh38 Chromosome 11, 77156969: 77156969
18 MYO7A NM_000260.3(MYO7A): c.652_657delGACATC (p.Asp218_Ile219del) deletion Pathogenic GRCh38 Chromosome 11, 77156921: 77156926
19 MYO7A NM_000260.3(MYO7A): c.652_657delGACATC (p.Asp218_Ile219del) deletion Pathogenic GRCh37 Chromosome 11, 76867967: 76867972
20 MYO7A NM_000260.3(MYO7A): c.635G> A (p.Arg212His) single nucleotide variant Pathogenic rs28934610 GRCh37 Chromosome 11, 76867950: 76867950
21 MYO7A NM_000260.3(MYO7A): c.635G> A (p.Arg212His) single nucleotide variant Pathogenic rs28934610 GRCh38 Chromosome 11, 77156904: 77156904
22 MYO7A NM_000260.3(MYO7A): c.634C> T (p.Arg212Cys) single nucleotide variant Pathogenic rs121965080 GRCh37 Chromosome 11, 76867949: 76867949
23 MYO7A NM_000260.3(MYO7A): c.634C> T (p.Arg212Cys) single nucleotide variant Pathogenic rs121965080 GRCh38 Chromosome 11, 77156903: 77156903
24 MYO7A NM_000260.3(MYO7A): c.1797G> A (p.Met599Ile) single nucleotide variant Pathogenic rs121965082 GRCh38 Chromosome 11, 77166162: 77166162
25 MYO7A NM_000260.3(MYO7A): c.1884C> A (p.Cys628Ter) single nucleotide variant Pathogenic rs121965083 GRCh37 Chromosome 11, 76883880: 76883880
26 MYO7A NM_000260.3(MYO7A): c.1884C> A (p.Cys628Ter) single nucleotide variant Pathogenic rs121965083 GRCh38 Chromosome 11, 77172834: 77172834
27 MYO7A NM_000260.3(MYO7A): c.93C> A (p.Cys31Ter) single nucleotide variant Pathogenic rs35689081 GRCh37 Chromosome 11, 76853829: 76853829
28 MYO7A NM_000260.3(MYO7A): c.93C> A (p.Cys31Ter) single nucleotide variant Pathogenic rs35689081 GRCh38 Chromosome 11, 77142783: 77142783
29 MYO7A NM_000260.3(MYO7A): c.1996C> T (p.Arg666Ter) single nucleotide variant Pathogenic rs121965085 GRCh37 Chromosome 11, 76885862: 76885862
30 MYO7A NM_000260.3(MYO7A): c.1996C> T (p.Arg666Ter) single nucleotide variant Pathogenic rs121965085 GRCh38 Chromosome 11, 77174816: 77174816
31 MYO7A MYO7A, IVS27AS, G-C, -1 single nucleotide variant Pathogenic
32 MYO7A NM_000260.3(MYO7A): c.652G> A (p.Asp218Asn) single nucleotide variant Likely pathogenic rs201539845 GRCh37 Chromosome 11, 76867967: 76867967
33 MYO7A NM_000260.3(MYO7A): c.652G> A (p.Asp218Asn) single nucleotide variant Likely pathogenic rs201539845 GRCh38 Chromosome 11, 77156921: 77156921
34 CIB2 NM_006383.3(CIB2): c.192G> C (p.Glu64Asp) single nucleotide variant Pathogenic rs145415848 GRCh37 Chromosome 15, 78403513: 78403513
35 CIB2 NM_006383.3(CIB2): c.192G> C (p.Glu64Asp) single nucleotide variant Pathogenic rs145415848 GRCh38 Chromosome 15, 78111171: 78111171
36 MYO7A NM_000260.3(MYO7A): c.1200+1G> A single nucleotide variant Pathogenic rs397516283 GRCh37 Chromosome 11, 76871329: 76871329
37 MYO7A NM_000260.3(MYO7A): c.1200+1G> A single nucleotide variant Pathogenic rs397516283 GRCh38 Chromosome 11, 77160283: 77160283
38 MYO7A NM_000260.3(MYO7A): c.1097T> C (p.Leu366Pro) single nucleotide variant Likely pathogenic rs397516281 GRCh37 Chromosome 11, 76871225: 76871225
39 MYO7A NM_000260.3(MYO7A): c.1097T> C (p.Leu366Pro) single nucleotide variant Likely pathogenic rs397516281 GRCh38 Chromosome 11, 77160179: 77160179
40 MYO7A NM_000260.3(MYO7A): c.132+5G> A single nucleotide variant Likely pathogenic rs397516284 GRCh37 Chromosome 11, 76853873: 76853873
41 MYO7A NM_000260.3(MYO7A): c.132+5G> A single nucleotide variant Likely pathogenic rs397516284 GRCh38 Chromosome 11, 77142827: 77142827
42 MYO7A NM_000260.3(MYO7A): c.1344-2A> G single nucleotide variant Pathogenic rs111033415 GRCh37 Chromosome 11, 76873164: 76873164
43 MYO7A NM_000260.3(MYO7A): c.1344-2A> G single nucleotide variant Pathogenic rs111033415 GRCh38 Chromosome 11, 77162118: 77162118
44 MYO7A NM_000260.3(MYO7A): c.1370C> T (p.Ala457Val) single nucleotide variant Likely pathogenic rs111033286 GRCh37 Chromosome 11, 76873192: 76873192
45 MYO7A NM_000260.3(MYO7A): c.1370C> T (p.Ala457Val) single nucleotide variant Likely pathogenic rs111033286 GRCh38 Chromosome 11, 77162146: 77162146
46 MYO7A NM_000260.3(MYO7A): c.1403_1404insGCA (p.Arg467_His468insGln) insertion Likely pathogenic rs111033219 GRCh37 Chromosome 11, 76873223: 76873225
47 MYO7A NM_000260.3(MYO7A): c.1403_1404insGCA (p.Arg467_His468insGln) insertion Likely pathogenic rs111033219 GRCh38 Chromosome 11, 77162177: 77162179
48 MYO7A NM_000260.3(MYO7A): c.141G> A (p.Trp47Ter) single nucleotide variant Pathogenic rs397516285 GRCh37 Chromosome 11, 76858852: 76858852
49 MYO7A NM_000260.3(MYO7A): c.141G> A (p.Trp47Ter) single nucleotide variant Pathogenic rs397516285 GRCh38 Chromosome 11, 77147806: 77147806
50 MYO7A NM_000260.3(MYO7A): c.1556G> A (p.Gly519Asp) single nucleotide variant Pathogenic rs111033206 GRCh37 Chromosome 11, 76873900: 76873900

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 11)
# Name GO ID Score Top Affiliating Genes
1 synapse GO:0045202 9.88 ADGRV1 ARR3 MYO7A PCDH15 USH1C
2 microvillus GO:0005902 9.61 CLRN1 MYO7A USH1C
3 photoreceptor connecting cilium GO:0032391 9.56 MYO7A USH1C USH1G USH2A
4 photoreceptor outer segment GO:0001750 9.55 ARR3 CIB2 MYO7A PCDH15 USH1C
5 stereocilium bundle GO:0032421 9.46 PCDH15 USH2A
6 photoreceptor inner segment GO:0001917 9.43 ARR3 CIB2 MYO7A USH1C USH1G USH2A
7 stereocilia ankle link GO:0002141 9.37 USH1C USH2A
8 stereocilia ankle link complex GO:0002142 9.32 USH1C USH2A
9 stereocilium GO:0032420 9.1 ADGRV1 CDH23 CIB2 MYO7A PCDH15 USH1C
10 cytoplasm GO:0005737 10.28 ACTG1 ADGRV1 ARR3 ASB10 CIB2 CXADR
11 plasma membrane GO:0005886 10.27 ACTG1 ADGRV1 CDH23 CIB2 CLRN1 CXADR

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.91 ADGRV1 ARR3 CDH23 CLRN1 USH2A
2 visual perception GO:0007601 9.91 ADGRV1 ARR3 CDH23 CLRN1 MYO7A PCDH15
3 sensory perception of sound GO:0007605 9.86 ADGRV1 CDH23 CLRN1 MYO7A PCDH15 USH1C
4 photoreceptor cell maintenance GO:0045494 9.76 ADGRV1 CDH23 CIB2 CLRN1 PCDH15 USH1C
5 inner ear receptor cell stereocilium organization GO:0060122 9.72 CDH23 MYO7A PCDH15 USH1C USH1G
6 inner ear morphogenesis GO:0042472 9.65 MYO7A USH1C USH1G
7 inner ear auditory receptor cell differentiation GO:0042491 9.61 MYO7A PCDH15 USH1C
8 inner ear receptor cell differentiation GO:0060113 9.58 MYO7A USH1G USH2A
9 sensory perception of light stimulus GO:0050953 9.56 ADGRV1 CDH23 CLRN1 MYO7A PCDH15 USH1C
10 auditory receptor cell stereocilium organization GO:0060088 9.49 MYO7A PCDH15
11 maintenance of animal organ identity GO:0048496 9.46 ADGRV1 USH2A
12 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 motor activity GO:0003774 9.33 DCTN2 MYO10 MYO7A
2 spectrin binding GO:0030507 9.02 DCTN2 MYO10 MYO7A USH1C USH1G
3 actin-dependent ATPase activity GO:0030898 8.96 MYO10 MYO7A

Sources for Usher Syndrome, Type I

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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