Usher Syndrome Type 2 (USH2) malady

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

Aliases & Classifications for Usher Syndrome Type 2

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11Disease Ontology, 13DISEASES, 23GeneReviews, 24GeneTests, 27GTR, 30ICD10, 31ICD10 via Orphanet, 54Orphanet, 68UMLS, 69UMLS via Orphanet
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Aliases & Descriptions for Usher Syndrome Type 2:

Name: Usher Syndrome Type 2 11 24 54 13
Ush2 11 23 24 54
Usher Syndrome Type Ii 23 27
Ush 2 24


Orphanet epidemiological data:

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


Penetrance: penetrance is 100% in ush2...


External Ids:

Disease Ontology11 DOID:0110827
ICD1030 H35.5
Orphanet54 ORPHA231178
UMLS via Orphanet69 C0339534, C1568249
ICD10 via Orphanet31 H35.5

Summaries for Usher Syndrome Type 2

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Disease Ontology:11 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 1f and usher syndrome, type 2a, and has symptoms including Array, Array and Array. An important gene associated with Usher Syndrome Type 2 is USH2A (Usherin). Affiliated tissues include cerebellum and eye, and related mouse phenotypes are behavior/neurological and vision/eye.

GeneReviews for NBK1341

Related Diseases for Usher Syndrome Type 2

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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 2 Usher Syndrome Type 1h
Usher Syndrome, Type 2b

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

(show all 46)
idRelated DiseaseScoreTop Affiliating Genes
1usher syndrome, type 1f30.8ADGRV1, CDH23, MYO7A, PCDH15, USH1C, USH1G
2usher syndrome, type 2a11.1
3usher syndrome, type 2c11.1
4usher syndrome, type 2d11.1
5usher syndrome, type 3a10.9
6usher syndrome type 3b10.9
7usher syndrome, type 1d10.9
8usher syndrome, type 1c10.9
9usher syndrome, type 1b10.9
10usher syndrome, type ij10.9
11usher syndrome, type 1g10.9
12usher syndrome10.3
13pnpla6-related disorders10.2CLRN1, USH2A
14manitoba oculotrichoanal syndrome10.1CDH23, MYO7A
1546xy partial gonadal dysgenesis, with minifascicular neuropathy10.1CIB2, MYO7A
16sjogren-larsson syndrome10.1CDH23, MYO7A
17rhizomelic chondrodysplasia punctata type 510.1ADGRV1, CLRN1, MYO7A
18autosomal recessive nonsyndromic deafness 9710.1CDH23, MYO7A
19die smulders droog van dijk syndrome10.1MYO7A, PCDH15
20autosomal dominant nonsyndromic deafness 6810.1USH1C, USH1G
21charcot-marie-tooth disease, type 1d10.0CDH23, MYO7A, PCDH15
22obesity susceptibility, adrb3-related10.0CDH23, MYO7A, USH1C, USH2A
23autosomal dominant nonsyndromic deafness 6910.0CDH23, MYO7A
24adult liposarcoma10.0MYO7A, PCDH15, PDZD7, USH2A
25cardiomyopathy, dilated, 1kk10.0MYO7A, PCDH15, USH1C, USH1G
26fanconi anemia, complementation group f10.0CDH23, MYO7A, USH1C, USH1G
27deafness, autosomal recessive 239.9CDH23, MYO7A, PCDH15, USH1C
28robinow syndrome, autosomal dominant 19.9ADGRV1, GSK3B, MYO7A, USH2A
29narcissistic personality disorder9.9CDH23, MYO7A, PCDH15, USH1C
30retinitis pigmentosa9.9
32retinitis pigmentosa 399.8GSK3B, PDZD7, USH1C, USH2A, WHRN
33pierre robin syndrome9.8CDH23, MYO7A, PCDH15, USH1C, USH1G
34trichomoniasis9.8CDH23, MYO7A, PCDH15, USH1C, USH2A
35sensorineural hearing loss9.8
37duane retraction syndrome9.8
38x-linked nonsyndromic deafness9.7CDH23, CIB2, MYO7A, PCDH15, USH2A, WHRN
39mitochondrial non-syndromic sensorineural deafness9.7CDH23, CIB2, MYO7A, PCDH15, USH1C, WHRN
4046xy sex reversal 39.3ADGRV1, CDH23, MYO7A, OPA1, PCDH15, PDZD7
41lissencephaly9.1ADGRV1, CDH23, CIB2, CLRN1, MYO7A, PCDH15
42dyskeratosis congenita, autosomal dominant 19.0ADGRV1, CDH23, CLRN1, HARS, MYO7A, PCDH15
43sertoli cell-only syndrome8.9ADGRV1, CDH23, CIB2, CLRN1, HARS, MYO7A
44peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads8.8ADGRV1, CDH23, CLRN1, MYO7A, OPA1, PCDH15
45deafness, autosomal dominant 118.7ADGRV1, CDH23, CIB2, CLRN1, GSK3B, MYO7A
46xeroderma pigmentosum group e8.2ADGRV1, CDH23, CIB2, CLRN1, GSK3B, HARS

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

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Human phenotypes related to Usher Syndrome Type 2:

 54 64 (show all 25)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the inner ear54 Very frequent (99-80%)
2 sensorineural hearing impairment64 54 Very frequent (99-80%) HP:0000407
3 abnormal electroretinogram64 54 Very frequent (99-80%) HP:0000512
4 cataract64 54 Frequent (79-30%) HP:0000518
5 myopia64 54 Frequent (79-30%) HP:0000545
6 visual loss64 54 Very frequent (99-80%) HP:0000572
7 scotoma64 54 Very frequent (99-80%) HP:0000575
8 nystagmus64 54 Occasional (29-5%) HP:0000639
9 night blindness54 Very frequent (99-80%)
10 carious teeth64 54 Occasional (29-5%) HP:0000670
11 abnormality of dental enamel64 54 Occasional (29-5%) HP:0000682
12 microdontia64 54 Occasional (29-5%) HP:0000691
13 depression64 54 Occasional (29-5%) HP:0000716
14 hallucinations64 54 Occasional (29-5%) HP:0000738
15 anxiety64 54 Occasional (29-5%) HP:0000739
16 ataxia64 54 Occasional (29-5%) HP:0001251
17 cerebral cortical atrophy64 54 Occasional (29-5%) HP:0002120
18 aplasia/hypoplasia of the cerebellum64 54 Occasional (29-5%) HP:0007360
19 iris hypopigmentation64 54 Very frequent (99-80%) HP:0007730
20 abnormality of dental color64 54 Occasional (29-5%) HP:0011073
21 subcortical cerebral atrophy64 54 Occasional (29-5%) HP:0012157
22 hemianopsia54 Very frequent (99-80%)
23 schizophrenia64 54 Occasional (29-5%) HP:0100753
24 nyctalopia64 HP:0000662
25 hemianopia64 HP:0012377

MGI Mouse Phenotypes related to Usher Syndrome Type 2 according to GeneCards Suite gene sharing:

idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053867.2ADGRV1, CDH23, CIB2, CLRN1, GSK3B, MYO7A
2MP:00053916.1ADGRV1, CDH23, CLRN1, MYO7A, OPA1, PCDH15
3MP:00053775.9ADGRV1, CDH23, CIB2, CLRN1, HARS, MYO7A
4MP:00036315.7ADGRV1, CDH23, CIB2, CLRN1, GSK3B, MYO7A

Drugs & Therapeutics for Usher Syndrome Type 2

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Study of UshStat in Patients With Retinitis Pigmentosa Associated With Usher Syndrome Type 1BRecruitingNCT01505062Phase 1, Phase 2
2Retinal Imaging of Subjects Implanted With Ciliary Neurotrophic Factor (CNTF)-Releasing Encapsulated Cell Implant for Early-stage Retinitis PigmentosaActive, not recruitingNCT01530659Phase 2
3A Study to Determine the Long-Term Safety, Tolerability and Biological Activity of UshStat® in Patients With Usher Syndrome Type 1BEnrolling by invitationNCT02065011Phase 1, Phase 2
4Study of Usher Syndromes, Type 1 and Type 2CompletedNCT00001347
5Rate of Progression in USH2A Related Retinal DegenerationRecruitingNCT03146078
6Natural History and Genetic Studies of Usher SyndromeActive, not recruitingNCT00106743

Search NIH Clinical Center for Usher Syndrome Type 2

Genetic Tests for Usher Syndrome Type 2

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Genetic tests related to Usher Syndrome Type 2:

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

Anatomical Context for Usher Syndrome Type 2

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MalaCards organs/tissues related to Usher Syndrome Type 2:

Cerebellum, Eye

Publications for Usher Syndrome Type 2

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Articles related to Usher Syndrome Type 2:

(show all 15)
Compound heterozygous MYO7A mutations segregating Usher syndrome type 2 in a Han family. (27729122)
Choroidal Thickness Analysis in Patients with Usher Syndrome Type 2 Using EDI OCT. (26075083)
Duane retraction syndrome type 1 with Usher syndrome type 2: an unreported association. (25955520)
Cognitive skills and reading in adults with Usher syndrome type 2. (25859232)
Deletion of PDZD7 disrupts the Usher syndrome type 2 protein complex in cochlear hair cells and causes hearing loss in mice. (24334608)
Whirlin and PDZ Domain Containing 7 (PDZD7) Proteins are Both Required to Form the Quaternary Protein Complex Associated with Usher Syndrome Type 2. (25406310)
The contribution of GPR98 and DFNB31 genes to a Spanish Usher syndrome type 2 cohort. (23441107)
Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapy. (22009552)
Novel USH2A mutations in Japanese Usher syndrome type 2 patients: marked differences in the mutation spectrum between the Japanese and other populations. (21593743)
Identification of 11 novel mutations in USH2A among Japanese patients with Usher syndrome type 2. (19737284)
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)
GPR98 mutations cause Usher syndrome type 2 in males. (19357117)
Four USH2A founder mutations underlie the majority of Usher syndrome type 2 cases among non-Ashkenazi Jews. (18452394)
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)
Novel USH2A mutations in Israeli patients with retinitis pigmentosa and Usher syndrome type 2. (17296898)

Variations for Usher Syndrome Type 2

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Expression for genes affiliated with Usher Syndrome Type 2

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

Pathways for genes affiliated with Usher Syndrome Type 2

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GO Terms for genes affiliated with Usher Syndrome Type 2

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1periciliary membrane compartmentGO:199007510.8USH2A, WHRN
2stereocilia ankle link complexGO:000214210.6USH2A, WHRN
3ciliary basal bodyGO:003606410.5USH1G, USH2A, WHRN
4microvillusGO:000590210.4CLRN1, MYO7A, USH1C
5stereocilia ankle linkGO:000214110.4PDZD7, USH2A, WHRN
6stereocilium bundleGO:003242110.2PCDH15, USH2A, WHRN
7photoreceptor connecting ciliumGO:003239110.2MYO7A, USH1G, USH2A, WHRN
8photoreceptor outer segmentGO:00017509.8CIB2, MYO7A, PCDH15, USH1C
9USH2 complexGO:19906969.7PDZD7, USH2A, WHRN
10photoreceptor inner segmentGO:00019179.4CIB2, MYO7A, USH1C, USH1G, USH2A, WHRN
11cell projectionGO:00429958.9CIB2, PDZD7, SLC4A7, USH1C, USH2A, WHRN
12synapseGO:00452028.4ADGRV1, MYO7A, PCDH15, SLC4A7, USH1C
13stereociliumGO:00324207.7ADGRV1, CDH23, CIB2, CLRN1, MYO7A, PCDH15
14plasma membraneGO:00058867.0ADGRV1, CDH23, CIB2, CLRN1, GSK3B, PCDH15

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1maintenance of animal organ identityGO:004849610.7ADGRV1, USH2A
2detection of mechanical stimulus involved in sensory perception of soundGO:005091010.5PCDH15, PDZD7
3actin filament bundle assemblyGO:005101710.5PCDH15, USH1C
4establishment of protein localizationGO:004518410.4PDZD7, USH2A, WHRN
5inner ear receptor cell differentiationGO:006011310.4MYO7A, USH1G, USH2A
6inner ear morphogenesisGO:004247210.3MYO7A, USH1C, USH1G
7auditory receptor cell differentiationGO:004249110.2MYO7A, PCDH15, USH1C
8auditory receptor cell developmentGO:00601179.7CLRN1, PDZD7, SLC4A7
9auditory receptor cell stereocilium organizationGO:00600889.6CLRN1, MYO7A, PCDH15, PDZD7, WHRN
10response to stimulusGO:00508969.4ADGRV1, CDH23, CLRN1, OPA1, USH2A
11inner ear receptor stereocilium organizationGO:00601229.2CDH23, MYO7A, PCDH15, USH1C, USH1G, WHRN
12equilibrioceptionGO:00509579.2CDH23, CLRN1, MYO7A, PCDH15, USH1C, USH1G
13photoreceptor cell maintenanceGO:00454948.5ADGRV1, CDH23, CIB2, CLRN1, PCDH15, USH1C
14sensory perception of light stimulusGO:00509538.4ADGRV1, CDH23, CLRN1, MYO7A, PCDH15, USH1C
15sensory perception of soundGO:00076058.3ADGRV1, CDH23, CLRN1, MYO7A, PCDH15, USH1C
16visual perceptionGO:00076018.1ADGRV1, CDH23, CLRN1, MYO7A, OPA1, PCDH15

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

idNameGO IDScoreTop Affiliating Genes
1spectrin bindingGO:00305079.6MYO7A, USH1C, USH1G
2protein homodimerization activityGO:00428039.0CIB2, MYO7A, PDZD7, USH1G, USH2A, WHRN

Sources for Usher Syndrome Type 2

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31ICD10 via Orphanet
40MESH via Orphanet
53OMIM via Orphanet
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
69UMLS via Orphanet