MCID: USH003
MIFTS: 42

Usher Syndrome Type Ii malady

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

Aliases & Classifications for Usher Syndrome Type Ii

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Sources:
23GeneReviews, 24GeneTests, 27GTR, 31ICD10 via Orphanet, 54Orphanet, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Usher Syndrome Type Ii:

Name: Usher Syndrome Type Ii 23
Usher Syndrome Type 2 24 54 27
 
Ush2 23 24 54
Ush 2 24

Characteristics:

Orphanet epidemiological data:

54
usher syndrome type 2:
Inheritance: Autosomal recessive; Age of onset: Adolescent,Childhood,Infancy

GeneReviews:

23
Penetrance: penetrance is 100% in ush2...


Classifications:



External Ids:

Orphanet54 ORPHA231178
UMLS via Orphanet69 C0339534, C1568249
ICD10 via Orphanet31 H35.5

Summaries for Usher Syndrome Type Ii

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MalaCards based summary: Usher Syndrome Type Ii, also known as usher syndrome type 2, is related to usher syndrome, type 2a and usher syndrome, type 2d, and has symptoms including sensorineural hearing impairment, visual impairment and abnormal electroretinogram. An important gene associated with Usher Syndrome Type Ii is USH2A (Usherin). Affiliated tissues include cerebellum and eye, and related mouse phenotypes are hearing/vestibular/ear and nervous system.

GeneReviews for NBK1341

Related Diseases for Usher Syndrome Type Ii

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Diseases in the Usher Syndrome family:

Usher Syndrome, Type 2a Usher Syndrome, Type 3a
Usher Syndrome, Type 2c Usher Syndrome Type 3b
Usher Syndrome, Type 2d Usher Syndrome, Type Ik
Usher Syndrome, Type 1d Usher Syndrome, Type 1f
Usher Syndrome, Type 1c Usher Syndrome, Type 1b
Usher Syndrome, Type Ij Usher Syndrome, Type 1g
usher syndrome type ii Usher Syndrome, Type 2b
Usher Syndrome Type 1h Usher Syndrome Type 1j
Usher Syndrome Type 1k

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

(show all 27)
idRelated DiseaseScoreTop Affiliating Genes
1usher syndrome, type 2a32.5PDZD7, USH2A
2usher syndrome, type 2d11.6
3usher syndrome, type 2c11.1
4usher syndrome, type 1d10.9
5usher syndrome, type 1f10.9
6usher syndrome, type 1c10.9
7usher syndrome, type 1b10.9
8usher syndrome, type 1g10.9
9usher syndrome10.6
10retinitis10.2
11trichohepatoenteric syndrome 110.1ADGRV1, PDZD7
12vapb-related amyotrophic lateral sclerosis10.1MYO7A, WHRN
13retinitis pigmentosa10.1
14choroideremia9.9
15osteopoikilosis and dacryocystitis9.9RPGR, USH2A
16autosomal recessive nonsyndromic deafness9.9MYO7A, WHRN
17hypertrichotic osteochondrodysplasia9.9RPGR, USH2A
18ichthyosis, congenital, autosomal recessive 39.8RPGR, USH2A
19retinal detachment9.8
20carnitine deficiency, systemic primary9.7RPGR, USH2A
21localized lichen myxedematosus with mixed features of different subtypes9.6MYO7A, WHRN
22tendinitis9.5MYO7A, RPGR
23limbal stem cell deficiency9.3MYO7A, RPGR, USH2A
24porokeratosis 9, multiple types9.2ADGRV1, MYO7A, RPGR, USH2A
25ovarian embryonal carcinoma9.0MYO7A, PDZD7, RPGR, USH2A
26scar contracture7.5ADGRV1, CLRN1, MYO7A, PDC, PDZD7, RPGR
27very long-chain acyl-coenzyme a dehydrogenase deficiency7.2ADGRV1, CHML, CLRN1, MYO7A, PDC, PDZD7

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



Diseases related to usher syndrome type ii

Symptoms & Phenotypes for Usher Syndrome Type Ii

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Human phenotypes related to Usher Syndrome Type Ii:

 64 54 (show all 28)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment64 54 hallmark (90%) Very frequent (99-80%) HP:0000407
2 visual impairment64 hallmark (90%) HP:0000505
3 abnormal electroretinogram64 54 hallmark (90%) Very frequent (99-80%) HP:0000512
4 nyctalopia64 hallmark (90%) HP:0000662
5 visual field defect64 hallmark (90%) HP:0001123
6 abnormality of retinal pigmentation64 hallmark (90%) HP:0007703
7 cataract64 54 typical (50%) Frequent (79-30%) HP:0000518
8 myopia64 54 typical (50%) Frequent (79-30%) HP:0000545
9 nystagmus64 54 occasional (7.5%) Occasional (29-5%) HP:0000639
10 carious teeth64 54 occasional (7.5%) Occasional (29-5%) HP:0000670
11 abnormality of dental enamel64 54 occasional (7.5%) Occasional (29-5%) HP:0000682
12 microdontia64 54 occasional (7.5%) Occasional (29-5%) HP:0000691
13 hallucinations64 54 occasional (7.5%) Occasional (29-5%) HP:0000738
14 cerebral cortical atrophy64 54 occasional (7.5%) Occasional (29-5%) HP:0002120
15 incoordination64 occasional (7.5%) HP:0002311
16 aplasia/hypoplasia of the cerebellum64 54 occasional (7.5%) Occasional (29-5%) HP:0007360
17 abnormality of dental color64 54 occasional (7.5%) Occasional (29-5%) HP:0011073
18 abnormality of the inner ear54 Very frequent (99-80%)
19 visual loss54 Very frequent (99-80%)
20 scotoma54 Very frequent (99-80%)
21 night blindness54 Very frequent (99-80%)
22 depression54 Occasional (29-5%)
23 anxiety54 Occasional (29-5%)
24 ataxia54 Occasional (29-5%)
25 iris hypopigmentation54 Very frequent (99-80%)
26 subcortical cerebral atrophy54 Occasional (29-5%)
27 hemianopsia54 Very frequent (99-80%)
28 schizophrenia54 Occasional (29-5%)

MGI Mouse Phenotypes related to Usher Syndrome Type Ii according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.7ADGRV1, CLRN1, MYO7A, PDZD7, USH2A, WHRN
2MP:00036317.3ADGRV1, CLRN1, MYO7A, PDC, PDZD7, RPGR
3MP:00053916.6ADGRV1, CLRN1, MYO7A, PDC, PDZD7, RPGR

Drugs & Therapeutics for Usher Syndrome Type Ii

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Retinal Imaging of Subjects Implanted With Ciliary Neurotrophic Factor (CNTF)-Releasing Encapsulated Cell Implant for Early-stage Retinitis PigmentosaActive, not recruitingNCT01530659Phase 2
2Study of Usher Syndromes, Type 1 and Type 2CompletedNCT00001347
3Natural History and Genetic Studies of Usher SyndromeActive, not recruitingNCT00106743

Search NIH Clinical Center for Usher Syndrome Type Ii

Genetic Tests for Usher Syndrome Type Ii

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Genetic tests related to Usher Syndrome Type Ii:

id Genetic test Affiliating Genes
1 Usher Syndrome Type 227 24 USH2A

Anatomical Context for Usher Syndrome Type Ii

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MalaCards organs/tissues related to Usher Syndrome Type Ii:

36
Cerebellum, Eye

Publications for Usher Syndrome Type Ii

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Articles related to Usher Syndrome Type Ii:

(show all 40)
idTitleAuthorsYear
1
Phenotype of Usher syndrome type II assosiated with compound missense mutations of c.721 C>T and c.1969 C>T in MYO7A in a Chinese Usher syndrome family. (26309859)
2015
2
Identification of novel compound heterozygous mutations of USH2A gene in a family with Usher syndrome type II]. (26037342)
2015
3
A novel mutation of the USH2C (GPR98) gene in an Iranian family with Usher syndrome type II. (25572244)
2014
4
A Novel Frameshift Mutation of the USH2A Gene in a Korean Patient with Usher Syndrome Type II. (23526569)
2013
5
Current understanding of usher syndrome type II. (22201796)
2012
6
Whirlin interacts with espin and modulates its actin-regulatory function: an insight into the mechanism of Usher syndrome type II. (22048959)
2012
7
Mutational frequencies in usherin(USH2A gene) in 26 Colombian individuals with Usher syndrome type II]. (22159486)
2011
8
Seven novel mutations in the long isoform of the USH2A gene in Chinese families with nonsyndromic retinitis pigmentosa and Usher syndrome Type II. (21686329)
2011
9
Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa. (20507924)
2010
10
Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II. (19881469)
2009
11
Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II. (18273898)
2008
12
Identification of candidate regions for a novel Usher syndrome type II locus. (18806881)
2008
13
Identification of five novel mutations in the long isoform of the USH2A gene in Chinese families with Usher syndrome type II. (19023448)
2008
14
Histopathological and neuroradiological features of Usher syndrome type II. (19227024)
2008
15
Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II. (17085681)
2006
16
Tractional retinal detachment in Usher syndrome type II. (16033369)
2005
17
Clinical and genetic studies in Spanish patients with Usher syndrome type II: description of new mutations and evidence for a lack of genotype-phenotype correlation. (16098008)
2005
18
Kinetics of visual field loss in Usher syndrome Type II. (14985291)
2004
19
Coats-like lesions in Usher syndrome type II. (14652768)
2004
20
USH2A mutation analysis in 70 Dutch families with Usher syndrome type II. (15241801)
2004
21
Mutational spectrum in Usher syndrome type II. (15025721)
2004
22
Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa. (15325563)
2004
23
Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II. (15015129)
2004
24
Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II. (14740321)
2004
25
Hearing impairment in Usher syndrome type II. (14535570)
2003
26
Hearing loss in Usher syndrome type II is nonprogressive. (12498372)
2002
27
Paternal uniparental heterodisomy with partial isodisomy of chromosome 1 in a patient with retinitis pigmentosa without hearing loss and a missense mutation in the Usher syndrome type II gene USH2A. (12427073)
2002
28
Spectrum of mutations in USH2A in British patients with Usher syndrome type II. (11311042)
2001
29
Prevalence of 2314delG mutation in Spanish patients with Usher syndrome type II (USH2). (10916187)
2000
30
Genetic heterogeneity of Usher syndrome type II: localisation to chromosome 5q. (10745043)
2000
31
A novel locus for Usher syndrome type II, USH2B, maps to chromosome 3 at p23-24.2. (10234513)
1999
32
Giant retinal tear in Usher syndrome type II: coincidence or association? (9564703)
1998
33
Genetic heterogeneity of Usher syndrome type II in a Dutch population. (8880575)
1996
34
Mapping of the choroideremia-like (CHML) gene at 1q42-qter and mutation analysis in patients with Usher syndrome type II. (8188272)
1994
35
Genetic heterogeneity of Usher syndrome type II. (7901420)
1993
36
Usher Syndrome Type II (20301515)
1993
37
An autosomal homologue of the choroideremia gene colocalizes with the Usher syndrome type II locus on the distal part of chromosome 1q. (1301160)
1992
38
A progress report on the localization of Usher syndrome type II to chromosome 1q. (1952607)
1991
39
Mapping recessive ophthalmic diseases: linkage of the locus for Usher syndrome type II to a DNA marker on chromosome 1q. (1971808)
1990
40
Localization of Usher syndrome type II to chromosome 1q. (2347588)
1990

Variations for Usher Syndrome Type Ii

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Expression for genes affiliated with Usher Syndrome Type Ii

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

Pathways for genes affiliated with Usher Syndrome Type Ii

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GO Terms for genes affiliated with Usher Syndrome Type Ii

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1periciliary membrane compartmentGO:199007510.4USH2A, WHRN
2stereocilia ankle link complexGO:000214210.2USH2A, WHRN
3microvillusGO:000590210.0CLRN1, MYO7A
4photoreceptor connecting ciliumGO:00323919.9MYO7A, USH2A, WHRN
5stereocilium bundleGO:00324219.8USH2A, WHRN
6stereocilia ankle linkGO:00021419.8PDZD7, USH2A, WHRN
7stereociliumGO:00324209.7ADGRV1, MYO7A, WHRN
8ciliary basal bodyGO:00360649.6RPGR, USH2A, WHRN
9photoreceptor inner segmentGO:00019179.4MYO7A, PDC, USH2A, WHRN
10USH2 complexGO:19906969.3PDZD7, USH2A, WHRN
11photoreceptor outer segmentGO:00017509.2MYO7A, PDC, RPGR

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1maintenance of animal organ identityGO:004849610.5ADGRV1, USH2A
2inner ear receptor cell differentiationGO:006011310.5MYO7A, USH2A
3inner ear receptor stereocilium organizationGO:006012210.4MYO7A, WHRN
4auditory receptor cell stereocilium organizationGO:006008810.3MYO7A, PDZD7
5equilibrioceptionGO:005095710.2CLRN1, MYO7A
6establishment of protein localizationGO:004518410.0PDZD7, USH2A, WHRN
7photoreceptor cell maintenanceGO:00454949.9ADGRV1, CLRN1, USH2A
8intracellular protein transportGO:00068869.4CHML, MYO7A, RPGR
9response to stimulusGO:00508969.3CLRN1, RPGR, USH2A
10sensory perception of light stimulusGO:00509539.0ADGRV1, CLRN1, MYO7A, USH2A, WHRN
11sensory perception of soundGO:00076059.0ADGRV1, CLRN1, MYO7A, USH2A, WHRN
12visual perceptionGO:00076017.4ADGRV1, CLRN1, MYO7A, PDC, RPGR, USH2A

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

idNameGO IDScoreTop Affiliating Genes
1protein homodimerization activityGO:00428038.9MYO7A, PDZD7, USH2A, WHRN

Sources for Usher Syndrome Type Ii

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet