MCID: USH003
MIFTS: 40

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:
22GeneReviews, 23GeneTests, 52Orphanet, 25GTR, 29ICD10 via Orphanet, 67UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Usher Syndrome Type Ii:

Name: Usher Syndrome Type Ii 22
Usher Syndrome Type 2 23 52 25
 
Ush2 23 52
Ush 2 23

Characteristics:

Orphanet epidemiological data:

52
usher syndrome type 2:
Inheritance: Autosomal recessive; Age of onset: Adolescent,Childhood,Infancy

Classifications:



External Ids:

Orphanet52 ORPHA231178
ICD10 via Orphanet29 H35.5
UMLS via Orphanet67 C0339534, C1568249

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 vision/eye.

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 23)
idRelated DiseaseScoreTop Affiliating Genes
1usher syndrome, type 2a31.3PDZD7, USH2A
2usher syndrome, type 2d11.4
3usher syndrome10.7
4retinitis10.3
5usher syndrome, type 2c10.2
6retinitis pigmentosa10.2
7trichohepatoenteric syndrome 110.1ADGRV1, PDZD7
8vapb-related amyotrophic lateral sclerosis10.0MYO7A, WHRN
9choroideremia10.0
10osteopoikilosis and dacryocystitis9.9RPGR, USH2A
11retinal detachment9.9
12hypertrichotic osteochondrodysplasia9.9RPGR, USH2A
13ichthyosis, congenital, autosomal recessive 39.8RPGR, USH2A
14autosomal recessive nonsyndromic deafness9.8MYO7A, WHRN
15carnitine deficiency, systemic primary9.7RPGR, USH2A
16localized lichen myxedematosus with mixed features of different subtypes9.5MYO7A, WHRN
17tendinitis9.4MYO7A, RPGR
18limbal stem cell deficiency9.3MYO7A, RPGR, USH2A
19porokeratosis 9, multiple types9.1ADGRV1, MYO7A, RPGR, USH2A
20ovarian embryonal carcinoma8.9MYO7A, PDZD7, RPGR, USH2A
21x-linked hypophosphatemic rickets8.4ADGRV1, CLRN1, MYO7A, PDZD7, USH2A, WHRN
22scar contracture7.2ADGRV1, CLRN1, MYO7A, PDC, PDZD7, RPGR
23very long-chain acyl-coenzyme a dehydrogenase deficiency6.9ADGRV1, 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 for Usher Syndrome Type Ii

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Symptoms:

 52 (show all 23)
  • abnormality of the inner ear
  • sensorineural hearing impairment
  • abnormal electroretinogram
  • cataract
  • myopia
  • visual loss
  • scotoma
  • nystagmus
  • night blindness
  • carious teeth
  • abnormality of dental enamel
  • microdontia
  • depression
  • hallucinations
  • anxiety
  • ataxia
  • cerebral cortical atrophy
  • aplasia/hypoplasia of the cerebellum
  • iris hypopigmentation
  • abnormality of dental color
  • subcortical cerebral atrophy
  • hemianopsia
  • schizophrenia

HPO human phenotypes related to Usher Syndrome Type Ii:

(show all 17)
id Description Frequency HPO Source Accession
1 sensorineural hearing impairment hallmark (90%) HP:0000407
2 visual impairment hallmark (90%) HP:0000505
3 abnormal electroretinogram hallmark (90%) HP:0000512
4 nyctalopia hallmark (90%) HP:0000662
5 visual field defect hallmark (90%) HP:0001123
6 abnormality of retinal pigmentation hallmark (90%) HP:0007703
7 cataract typical (50%) HP:0000518
8 myopia typical (50%) HP:0000545
9 nystagmus occasional (7.5%) HP:0000639
10 carious teeth occasional (7.5%) HP:0000670
11 abnormality of dental enamel occasional (7.5%) HP:0000682
12 microdontia occasional (7.5%) HP:0000691
13 hallucinations occasional (7.5%) HP:0000738
14 cerebral cortical atrophy occasional (7.5%) HP:0002120
15 incoordination occasional (7.5%) HP:0002311
16 aplasia/hypoplasia of the cerebellum occasional (7.5%) HP:0007360
17 abnormality of dental color occasional (7.5%) HP:0011073

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 PigmentosaRecruitingNCT01530659Phase 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 225 23 USH2A

Anatomical Context for Usher Syndrome Type Ii

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MalaCards organs/tissues related to Usher Syndrome Type Ii:

34
Cerebellum, Eye

Animal Models for Usher Syndrome Type Ii or affiliated genes

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MGI Mouse Phenotypes related to Usher Syndrome Type Ii:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.2ADGRV1, CLRN1, MYO7A, PDZD7, USH2A, WHRN
2MP:00053916.6ADGRV1, CLRN1, MYO7A, PDC, PDZD7, RPGR
3MP:00036316.3ADGRV1, CLRN1, MYO7A, PDC, PDZD7, RPGR

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
1stereocilia ankle link complexGO:000214210.3USH2A, WHRN
2periciliary membrane compartmentGO:199007510.3USH2A, WHRN
3stereocilia ankle linkGO:00021419.8PDZD7, USH2A, WHRN
4USH2 complexGO:19906969.8PDZD7, USH2A, WHRN
5stereocilium bundleGO:00324219.8USH2A, WHRN
6photoreceptor connecting ciliumGO:00323919.7MYO7A, USH2A, WHRN
7microvillusGO:00059029.6CLRN1, MYO7A
8stereociliumGO:00324209.2ADGRV1, MYO7A, WHRN
9ciliary basal bodyGO:00360649.1RPGR, USH2A, WHRN
10photoreceptor outer segmentGO:00017509.0MYO7A, PDC, RPGR
11photoreceptor inner segmentGO:00019178.8MYO7A, PDC, USH2A, WHRN

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:004849610.4ADGRV1, USH2A
2auditory receptor cell stereocilium organizationGO:006008810.1MYO7A, PDZD7
3inner ear receptor stereocilium organizationGO:006012210.0MYO7A, WHRN
4inner ear receptor cell differentiationGO:006011310.0MYO7A, USH2A
5equilibrioceptionGO:00509579.9CLRN1, MYO7A
6establishment of protein localizationGO:00451849.5PDZD7, USH2A, WHRN
7photoreceptor cell maintenanceGO:00454949.2ADGRV1, CLRN1, USH2A
8response to stimulusGO:00508969.0CLRN1, RPGR, USH2A
9sensory perception of light stimulusGO:00509538.9ADGRV1, CLRN1, MYO7A, USH2A, WHRN
10intracellular protein transportGO:00068868.6CHML, MYO7A, RPGR
11sensory perception of soundGO:00076058.5ADGRV1, CLRN1, MYO7A, USH2A, WHRN
12visual perceptionGO:00076017.1ADGRV1, 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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet