MCID: USH035
MIFTS: 45

Usher Syndrome Type 2

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

Aliases & Classifications for Usher Syndrome Type 2

MalaCards integrated aliases for Usher Syndrome Type 2:

Name: Usher Syndrome Type 2 12 59 29 15
Ush2 12 59
Usher Syndrome, Type Ii 40
Usher Syndrome Type Ii 24

Characteristics:

Orphanet epidemiological data:

59
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 ic and usher syndrome, type ig. An important gene associated with Usher Syndrome Type 2 is USH2A (Usherin). Affiliated tissues include cerebellum and eye, 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 2
Usher Syndrome, Type 2b

Diseases related to Usher Syndrome Type 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 42)
# Related Disease Score Top Affiliating Genes
1 usher syndrome, type ic 31.9 CDH23 MYO7A USH1C
2 usher syndrome, type ig 31.2 CDH23 MYO7A PCDH15 USH1G
3 usher syndrome, type iia 31.1 GSK3B PDZD7 USH1C USH2A WHRN
4 usher syndrome, type if 30.7 CDH23 MYO7A PCDH15 USH1C USH1G
5 retinitis pigmentosa-deafness syndrome 30.4 ADGRV1 CDH23 MYO7A PCDH15
6 usher syndrome, type id 29.9 ADGRV1 CDH23 MYO7A PCDH15 USH1C USH1G
7 sensorineural hearing loss 29.1 CDH23 MYO7A PCDH15 USH2A WHRN
8 usher syndrome, type iid 28.4 ADGRV1 CDH23 MYO7A OPA1 PCDH15 PDZD7
9 usher syndrome, type iiia 27.5 ADGRV1 CDH23 CLRN1 HARS MYO7A PCDH15
10 usher syndrome, type i 27.3 ADGRV1 CDH23 CIB2 CLRN1 GSK3B MYO7A
11 usher syndrome, type iic 26.7 ADGRV1 CDH23 CLRN1 MYO7A OPA1 PCDH15
12 usher syndrome 25.0 ADGRV1 CDH23 CIB2 CLRN1 HARS MYO7A
13 retinitis pigmentosa 24.0 ADGRV1 CDH23 CIB2 CLRN1 EYS HARS
14 usher syndrome, type iiib 11.0
15 usher syndrome, type ij 11.0
16 nonsyndromic retinitis pigmentosa 10.6 CLRN1 USH2A
17 dfnb1 10.4 MYO7A PCDH15
18 yemenite deaf-blind hypopigmentation syndrome 10.4 MYO7A USH2A
19 deafness, autosomal recessive 85 10.4 CDH23 MYO7A
20 deafness, autosomal dominant 48 10.4 CIB2 MYO7A
21 deafness, autosomal recessive 83 10.3 CDH23 MYO7A
22 auditory neuropathy spectrum disorder 10.3 MYO7A OPA1
23 autosomal recessive nonsyndromic deafness 3 10.2 CDH23 MYO7A
24 deafness, autosomal recessive 23 10.2 CDH23 MYO7A PCDH15
25 deafness, autosomal recessive 12 10.1 CDH23 MYO7A PCDH15
26 auditory system disease 10.1 CDH23 MYO7A PCDH15
27 deafness, autosomal dominant 6 10.1 CDH23 MYO7A
28 retinal disease 10.0 MYO7A PCDH15 USH1C USH2A
29 leber congenital amaurosis 4 10.0
30 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
31 retinitis 10.0
32 perrault syndrome 9.9 CIB2 CLRN1 HARS
33 deafness, autosomal recessive 6 9.9 ADGRV1 GSK3B MYO7A USH2A
34 deafness, autosomal dominant 20 9.9 USH1C USH1G
35 choroiditis 9.8
36 duane retraction syndrome 9.8
37 isolated duane retraction syndrome 9.8
38 deafness, autosomal recessive 9.7 CIB2 PCDH15 USH1C WHRN
39 bardet-biedl syndrome 9.7 CDH23 MYO7A PCDH15 USH1C
40 fundus dystrophy 9.6 EYS MYO7A USH2A
41 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.1 CDH23 CIB2 MYO7A PCDH15 USH1C WHRN
42 nonsyndromic deafness 7.9 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:

59 32 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000407
2 abnormal electroretinogram 59 32 hallmark (90%) Very frequent (99-80%) HP:0000512
3 cataract 59 32 frequent (33%) Frequent (79-30%) HP:0000518
4 myopia 59 32 frequent (33%) Frequent (79-30%) HP:0000545
5 visual loss 59 32 hallmark (90%) Very frequent (99-80%) HP:0000572
6 scotoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0000575
7 nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000639
8 nyctalopia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000662
9 carious teeth 59 32 occasional (7.5%) Occasional (29-5%) HP:0000670
10 abnormality of dental enamel 59 32 occasional (7.5%) Occasional (29-5%) HP:0000682
11 microdontia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000691
12 depressivity 59 32 occasional (7.5%) Occasional (29-5%) HP:0000716
13 hallucinations 59 32 occasional (7.5%) Occasional (29-5%) HP:0000738
14 anxiety 59 32 occasional (7.5%) Occasional (29-5%) HP:0000739
15 ataxia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001251
16 cerebral cortical atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0002120
17 aplasia/hypoplasia of the cerebellum 59 32 occasional (7.5%) Occasional (29-5%) HP:0007360
18 iris hypopigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007730
19 abnormality of dental color 59 32 occasional (7.5%) Occasional (29-5%) HP:0011073
20 subcortical cerebral atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0012157
21 schizophrenia 59 32 occasional (7.5%) Occasional (29-5%) HP:0100753
22 abnormality of the inner ear 59 Very frequent (99-80%)
23 hemianopsia 59 Very frequent (99-80%)
24 hemianopia 32 hallmark (90%) HP:0012377

MGI Mouse Phenotypes related to Usher Syndrome Type 2:

46
# 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 CDH23 CIB2 CLRN1 GSK3B MYO7A OPA1
4 vision/eye MP:0005391 9.4 ADGRV1 CDH23 CLRN1 MYO7A OPA1 PCDH15

Drugs & Therapeutics for Usher Syndrome Type 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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
2 Study of Usher Syndromes, Type 1 and Type 2 Completed NCT00001347
3 Rate of Progression in USH2A Related Retinal Degeneration 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 29

Anatomical Context for Usher Syndrome Type 2

MalaCards organs/tissues related to Usher Syndrome Type 2:

41
Cerebellum, Eye

Publications for Usher Syndrome Type 2

Articles related to Usher Syndrome Type 2:

(show all 15)
# Title Authors Year
1
Compound heterozygous MYO7A mutations segregating Usher syndrome type 2 in a Han family. ( 27729122 )
2016
2
Choroidal Thickness Analysis in Patients with Usher Syndrome Type 2 Using EDI OCT. ( 26075083 )
2015
3
Duane retraction syndrome type 1 with Usher syndrome type 2: an unreported association. ( 25955520 )
2015
4
Cognitive skills and reading in adults with Usher syndrome type 2. ( 25859232 )
2015
5
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
6
Deletion of PDZD7 disrupts the Usher syndrome type 2 protein complex in cochlear hair cells and causes hearing loss in mice. ( 24334608 )
2014
7
The contribution of GPR98 and DFNB31 genes to a Spanish Usher syndrome type 2 cohort. ( 23441107 )
2013
8
Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapy. ( 22009552 )
2012
9
Novel USH2A mutations in Japanese Usher syndrome type 2 patients: marked differences in the mutation spectrum between the Japanese and other populations. ( 21593743 )
2011
10
Identification of 11 novel mutations in USH2A among Japanese patients with Usher syndrome type 2. ( 19737284 )
2009
11
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
12
GPR98 mutations cause Usher syndrome type 2 in males. ( 19357117 )
2009
13
Four USH2A founder mutations underlie the majority of Usher syndrome type 2 cases among non-Ashkenazi Jews. ( 18452394 )
2008
14
Novel USH2A mutations in Israeli patients with retinitis pigmentosa and Usher syndrome type 2. ( 17296898 )
2007
15
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

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 13)
# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.97 CIB2 PDZD7 SLC4A7 USH1C USH2A WHRN
2 synapse GO:0045202 9.91 ADGRV1 MYO7A PCDH15 SLC4A7 USH1C
3 photoreceptor outer segment GO:0001750 9.67 CIB2 MYO7A PCDH15 USH1C
4 microvillus GO:0005902 9.65 CLRN1 MYO7A USH1C
5 photoreceptor connecting cilium GO:0032391 9.63 MYO7A PDZD7 USH1C USH1G USH2A WHRN
6 stereocilia ankle link GO:0002141 9.62 PDZD7 USH1C USH2A WHRN
7 stereocilium tip GO:0032426 9.58 PDZD7 USH1C WHRN
8 stereocilia ankle link complex GO:0002142 9.56 PDZD7 USH1C USH2A WHRN
9 stereocilium bundle GO:0032421 9.52 PCDH15 USH2A
10 photoreceptor inner segment GO:0001917 9.5 CIB2 MYO7A PDZD7 USH1C USH1G USH2A
11 USH2 complex GO:1990696 9.43 PDZD7 USH2A
12 stereocilium GO:0032420 9.28 ADGRV1 CDH23 CIB2 MYO7A PCDH15 PDZD7
13 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 16)
# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.99 ADGRV1 CDH23 CLRN1 EYS OPA1 USH2A
2 sensory perception of sound GO:0007605 9.96 ADGRV1 CDH23 CLRN1 MYO7A PCDH15 PDZD7
3 inner ear morphogenesis GO:0042472 9.85 MYO7A PDZD7 USH1C USH1G WHRN
4 sensory perception of light stimulus GO:0050953 9.81 ADGRV1 CDH23 CLRN1 MYO7A PCDH15 USH1C
5 inner ear receptor cell stereocilium organization GO:0060122 9.8 CDH23 MYO7A PCDH15 USH1C USH1G WHRN
6 inner ear auditory receptor cell differentiation GO:0042491 9.77 MYO7A PCDH15 PDZD7 USH1C WHRN
7 auditory receptor cell stereocilium organization GO:0060088 9.73 MYO7A PCDH15 PDZD7 WHRN
8 inner ear receptor cell development GO:0060119 9.67 PDZD7 USH1C WHRN
9 inner ear receptor cell differentiation GO:0060113 9.65 MYO7A USH1G USH2A
10 establishment of protein localization GO:0045184 9.56 PDZD7 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 auditory receptor cell development GO:0060117 9.54 PDZD7 SLC4A7
14 maintenance of animal organ identity GO:0048496 9.52 ADGRV1 USH2A
15 equilibrioception GO:0050957 9.1 CDH23 CLRN1 MYO7A PCDH15 USH1C USH1G
16 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 protein homodimerization activity GO:0042803 9.55 CIB2 MYO7A PDZD7 USH1G USH2A
2 calcium ion binding GO:0005509 9.35 ADGRV1 CDH23 CIB2 EYS PCDH15
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 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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