MCID: USH035
MIFTS: 46

Usher Syndrome Type 2

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

Aliases & Classifications for Usher Syndrome Type 2

MalaCards integrated aliases for Usher Syndrome Type 2:

Name: Usher Syndrome Type 2 12 60 30 15
Ush2 12 60
Usher Syndrome, Type Ii 41
Usher Syndrome Type Ii 25

Characteristics:

Orphanet epidemiological data:

60
usher syndrome type 2
Inheritance: Autosomal recessive; Age of onset: Adolescent,Childhood,Infancy;

Classifications:



Summaries for Usher Syndrome Type 2

Disease Ontology : 12 An Usher syndrome characterized by mild to severe congenital hearing impairment, normal vestibular function and later development of retinitis pigmentosa.

MalaCards based summary : Usher Syndrome Type 2, also known as ush2, is related to usher syndrome, type iia and usher syndrome, type ic. An important gene associated with Usher Syndrome Type 2 is USH2A (Usherin). Affiliated tissues include cerebellum, eye and retina, and related phenotypes are sensorineural hearing impairment and abnormal electroretinogram

GeneReviews:

Related Diseases for Usher Syndrome Type 2

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 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 48)
# Related Disease Score Top Affiliating Genes
1 usher syndrome, type iia 32.2 GSK3B PDZD7 USH1C USH2A WHRN
2 usher syndrome, type ic 31.7 CDH23 CLRN1 MYO7A USH1C
3 usher syndrome, type ig 31.6 CDH23 MYO7A PCDH15 USH1G
4 usher syndrome, type if 31.4 CDH23 MYO7A PCDH15 USH1C USH1G
5 usher syndrome, type id 31.0 ADGRV1 CDH23 MYO7A PCDH15 USH1C USH1G
6 usher syndrome, type iid 30.8 ADGRV1 CDH23 MYO7A OPA1 PCDH15 PDZD7
7 retinitis pigmentosa-deafness syndrome 30.4 ADGRV1 CDH23 MYO7A PCDH15 USH2A WHRN
8 nonsyndromic retinitis pigmentosa 30.4 CLRN1 USH2A
9 usher syndrome, type iic 30.0 ADGRV1 CDH23 CLRN1 MYO7A OPA1 PCDH15
10 usher syndrome, type iiia 29.6 ADGRV1 CDH23 CLRN1 HARS MYO7A PCDH15
11 sensorineural hearing loss 29.6 CDH23 MYO7A PCDH15 USH2A WHRN
12 usher syndrome, type i 29.5 ADGRV1 CDH23 CIB2 CLRN1 GSK3B MYO7A
13 usher syndrome 28.1 ADGRV1 CDH23 CIB2 CLRN1 HARS MYO7A
14 retinitis pigmentosa 27.2 ADGRV1 CDH23 CIB2 CLRN1 EYS HARS
15 usher syndrome, type iiib 11.2
16 usher syndrome, type ij 11.2
17 dfnb1 10.2 MYO7A PCDH15
18 deafness, autosomal dominant 48 10.2 CIB2 MYO7A
19 deafness, autosomal recessive 85 10.2 CDH23 MYO7A
20 auditory neuropathy spectrum disorder 10.1 MYO7A OPA1
21 deafness, autosomal recessive 83 10.1 CDH23 MYO7A
22 yemenite deaf-blind hypopigmentation syndrome 10.1 MYO7A USH2A
23 choroideremia 10.1
24 leber congenital amaurosis 4 10.1
25 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
26 retinitis 10.1
27 autosomal recessive nonsyndromic deafness 3 10.1 CDH23 MYO7A
28 deafness, autosomal recessive 23 10.1 CDH23 MYO7A PCDH15
29 deafness, autosomal recessive 12 10.0 CDH23 MYO7A PCDH15
30 retinal detachment 9.9
31 retinitis pigmentosa 40 9.9
32 waardenburg's syndrome 9.9
33 usher syndrome, type 2b 9.9
34 deafness, autosomal recessive 31 9.9
35 retinitis pigmentosa 39 9.9
36 duane retraction syndrome 9.9
37 isolated duane retraction syndrome 9.9
38 perrault syndrome 9.9 CIB2 CLRN1 HARS
39 deafness, autosomal dominant 20 9.9 USH1C USH1G
40 deafness, autosomal recessive 6 9.9 ADGRV1 GSK3B MYO7A USH2A
41 auditory system disease 9.9 CDH23 MYO7A PCDH15 USH1C
42 bardet-biedl syndrome 9.9 CDH23 MYO7A PCDH15 USH1C
43 branchiootic syndrome 1 9.8 CDH23 MYO7A USH1G USH2A WHRN
44 scotoma 9.8 EYS OPA1
45 deafness, autosomal recessive 9.8 CIB2 PCDH15 PDZD7 USH1C WHRN
46 fundus dystrophy 9.7 EYS MYO7A USH2A
47 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.4 CDH23 CIB2 MYO7A PCDH15 USH1C USH1G
48 nonsyndromic deafness 9.0 ADGRV1 CDH23 CIB2 MYO7A PCDH15 PDZD7

Graphical network of the top 20 diseases related to Usher Syndrome Type 2:



Diseases related to Usher Syndrome Type 2

Symptoms & Phenotypes for Usher Syndrome Type 2

Human phenotypes related to Usher Syndrome Type 2:

60 33 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000407
2 abnormal electroretinogram 60 33 hallmark (90%) Very frequent (99-80%) HP:0000512
3 nyctalopia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000662
4 visual loss 60 33 hallmark (90%) Very frequent (99-80%) HP:0000572
5 iris hypopigmentation 60 33 hallmark (90%) Very frequent (99-80%) HP:0007730
6 scotoma 60 33 hallmark (90%) Very frequent (99-80%) HP:0000575
7 hemianopia 33 hallmark (90%) HP:0012377
8 cataract 60 33 frequent (33%) Frequent (79-30%) HP:0000518
9 myopia 60 33 frequent (33%) Frequent (79-30%) HP:0000545
10 nystagmus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000639
11 depressivity 60 33 occasional (7.5%) Occasional (29-5%) HP:0000716
12 ataxia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001251
13 hallucinations 60 33 occasional (7.5%) Occasional (29-5%) HP:0000738
14 carious teeth 60 33 occasional (7.5%) Occasional (29-5%) HP:0000670
15 microdontia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000691
16 anxiety 60 33 occasional (7.5%) Occasional (29-5%) HP:0000739
17 cerebral cortical atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0002120
18 aplasia/hypoplasia of the cerebellum 60 33 occasional (7.5%) Occasional (29-5%) HP:0007360
19 abnormality of dental enamel 60 33 occasional (7.5%) Occasional (29-5%) HP:0000682
20 schizophrenia 60 33 occasional (7.5%) Occasional (29-5%) HP:0100753
21 abnormality of dental color 60 33 occasional (7.5%) Occasional (29-5%) HP:0011073
22 subcortical cerebral atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0012157
23 hemianopsia 60 Very frequent (99-80%)
24 abnormality of the inner ear 60 Very frequent (99-80%)

MGI Mouse Phenotypes related to Usher Syndrome Type 2:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10 ADGRV1 CDH23 CIB2 CLRN1 GSK3B MYO7A
2 hearing/vestibular/ear MP:0005377 10 ADGRV1 CDH23 CIB2 CLRN1 HARS MYO7A
3 nervous system MP:0003631 9.8 ADGRV1 CDH23 CIB2 CLRN1 GSK3B MYO7A
4 vision/eye MP:0005391 9.44 ADGRV1 CDH23 CIB2 CLRN1 MYO7A OPA1

Drugs & Therapeutics for Usher Syndrome Type 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Study to Evaluate Safety and Tolerability of QR-421a in Subjects With RP Due to Mutations in Exon 13 of the USH2A Gene Recruiting NCT03780257 Phase 1, Phase 2 QR-421a
2 Retinal Imaging of Subjects Implanted With Ciliary Neurotrophic Factor (CNTF)-Releasing Encapsulated Cell Implant for Early-stage Retinitis Pigmentosa Active, not recruiting NCT01530659 Phase 2 NT-501
3 Study of Usher Syndromes, Type 1 and Type 2 Completed NCT00001347
4 Rate of Progression in USH2A Related Retinal Degeneration Active, not recruiting NCT03146078

Search NIH Clinical Center for Usher Syndrome Type 2

Genetic Tests for Usher Syndrome Type 2

Genetic tests related to Usher Syndrome Type 2:

# Genetic test Affiliating Genes
1 Usher Syndrome Type 2 30

Anatomical Context for Usher Syndrome Type 2

MalaCards organs/tissues related to Usher Syndrome Type 2:

42
Cerebellum, Eye, Retina

Publications for Usher Syndrome Type 2

Articles related to Usher Syndrome Type 2:

(show all 27)
# Title Authors Year
1
Central Retina Functional Damage in Usher Syndrome Type 2: 22 Years of Focal Macular ERG Analysis in a Patient Population From Central and Southern Italy. ( 30073356 )
2018
2
Generation of a human iPSC line, INMi002-A, carrying the most prevalent USH2A variant associated with Usher syndrome type 2. ( 30468996 )
2018
3
The roles of USH1 proteins and PDZ domain-containing USH proteins in USH2 complex integrity in cochlear hair cells. ( 28031293 )
2017
4
Compound heterozygous MYO7A mutations segregating Usher syndrome type 2 in a Han family. ( 27729122 )
2016
5
Cognitive skills and reading in adults with Usher syndrome type 2. ( 25859232 )
2015
6
Choroidal Thickness Analysis in Patients with Usher Syndrome Type 2 Using EDI OCT. ( 26075083 )
2015
7
USH2 caused by GPR98 mutation diagnosed by massively parallel sequencing in advance of the occurrence of visual symptoms. ( 25743181 )
2015
8
Individual USH2 proteins make distinct contributions to the ankle link complex during development of the mouse cochlear stereociliary bundle. ( 26401052 )
2015
9
Duane retraction syndrome type 1 with Usher syndrome type 2: an unreported association. ( 25955520 )
2015
10
Deletion of PDZD7 disrupts the Usher syndrome type 2 protein complex in cochlear hair cells and causes hearing loss in mice. ( 24334608 )
2014
11
Whirlin and PDZ domain-containing 7 (PDZD7) proteins are both required to form the quaternary protein complex associated with Usher syndrome type 2. ( 25406310 )
2014
12
The contribution of GPR98 and DFNB31 genes to a Spanish Usher syndrome type 2 cohort. ( 23441107 )
2013
13
Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapy. ( 22009552 )
2012
14
Audiological findings in 100 USH2 patients. ( 21895633 )
2012
15
Non-USH2A mutations in USH2 patients. ( 22147658 )
2012
16
Novel USH2A mutations in Japanese Usher syndrome type 2 patients: marked differences in the mutation spectrum between the Japanese and other populations. ( 21593743 )
2011
17
Whirlin replacement restores the formation of the USH2 protein complex in whirlin knockout photoreceptors. ( 21212183 )
2011
18
Ablation of whirlin long isoform disrupts the USH2 protein complex and causes vision and hearing loss. ( 20502675 )
2010
19
Novel USH2A compound heterozygous mutations cause RP/USH2 in a Chinese family. ( 20309401 )
2010
20
An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians. ( 18665195 )
2009
21
GPR98 mutations cause Usher syndrome type 2 in males. ( 19357117 )
2009
22
Identification of 11 novel mutations in USH2A among Japanese patients with Usher syndrome type 2. ( 19737284 )
2009
23
Four USH2A founder mutations underlie the majority of Usher syndrome type 2 cases among non-Ashkenazi Jews. ( 18452394 )
2008
24
A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss. ( 17171570 )
2007
25
Novel USH2A mutations in Israeli patients with retinitis pigmentosa and Usher syndrome type 2. ( 17296898 )
2007
26
Prevalence of 2314delG mutation in Spanish patients with Usher syndrome type II (USH2). ( 10916187 )
2000
27
Three novel mutations and twelve polymorphisms identified in the USH2A gene in Israeli USH2 families. ( 10738000 )
2000

Variations for Usher Syndrome Type 2

Expression for Usher Syndrome Type 2

Search GEO for disease gene expression data for Usher Syndrome Type 2.

Pathways for Usher Syndrome Type 2

GO Terms for Usher Syndrome Type 2

Cellular components related to Usher Syndrome Type 2 according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.99 CIB2 PDZD7 SLC4A7 USH1C USH2A WHRN
2 synapse GO:0045202 9.92 ADGRV1 MYO7A PCDH15 SLC4A7 USH1C
3 ciliary basal body GO:0036064 9.72 USH1G USH2A WHRN
4 photoreceptor outer segment GO:0001750 9.71 CIB2 MYO7A PCDH15 USH1C
5 microvillus GO:0005902 9.67 CLRN1 MYO7A USH1C
6 photoreceptor connecting cilium GO:0032391 9.63 MYO7A PDZD7 USH1C USH1G USH2A WHRN
7 stereocilia ankle link GO:0002141 9.62 PDZD7 USH1C USH2A WHRN
8 stereocilium tip GO:0032426 9.61 PDZD7 USH1C WHRN
9 stereocilia ankle link complex GO:0002142 9.56 PDZD7 USH1C USH2A WHRN
10 stereocilium bundle GO:0032421 9.54 USH2A WHRN
11 USH2 complex GO:1990696 9.54 PDZD7 USH2A WHRN
12 photoreceptor inner segment GO:0001917 9.5 CIB2 MYO7A PDZD7 USH1C USH1G USH2A
13 periciliary membrane compartment GO:1990075 9.48 USH2A WHRN
14 stereocilium GO:0032420 9.32 ADGRV1 CDH23 CIB2 CLRN1 MYO7A PCDH15
15 plasma membrane GO:0005886 10.23 ADGRV1 CDH23 CIB2 CLRN1 GSK3B PCDH15

Biological processes related to Usher Syndrome Type 2 according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.97 ADGRV1 CDH23 CLRN1 EYS OPA1 USH2A
2 sensory perception of sound GO:0007605 9.96 ADGRV1 CDH23 CLRN1 MYO7A PCDH15 PDZD7
3 sensory perception of light stimulus GO:0050953 9.81 ADGRV1 CDH23 CLRN1 MYO7A PCDH15 USH1C
4 inner ear receptor cell stereocilium organization GO:0060122 9.8 CDH23 MYO7A PCDH15 USH1C USH1G WHRN
5 auditory receptor cell stereocilium organization GO:0060088 9.77 CLRN1 MYO7A PCDH15 PDZD7 WHRN
6 inner ear morphogenesis GO:0042472 9.71 MYO7A USH1C USH1G
7 establishment of protein localization GO:0045184 9.69 PDZD7 USH2A WHRN
8 inner ear auditory receptor cell differentiation GO:0042491 9.65 MYO7A PCDH15 USH1C
9 auditory receptor cell development GO:0060117 9.63 CLRN1 PDZD7 SLC4A7
10 inner ear receptor cell differentiation GO:0060113 9.61 MYO7A USH1G USH2A
11 photoreceptor cell maintenance GO:0045494 9.56 ADGRV1 CDH23 CIB2 CLRN1 PCDH15 USH1C
12 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.55 PCDH15 PDZD7
13 maintenance of animal organ identity GO:0048496 9.52 ADGRV1 USH2A
14 equilibrioception GO:0050957 9.1 CDH23 CLRN1 MYO7A PCDH15 USH1C USH1G
15 visual perception GO:0007601 10.01 ADGRV1 CDH23 CLRN1 EYS MYO7A OPA1

Molecular functions related to Usher Syndrome Type 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.55 ADGRV1 CDH23 CIB2 EYS PCDH15
2 protein homodimerization activity GO:0042803 9.43 CIB2 MYO7A PDZD7 USH1G USH2A WHRN
3 spectrin binding GO:0030507 8.8 MYO7A USH1C USH1G

Sources for Usher Syndrome Type 2

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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