USH2A
MCID: USH037
MIFTS: 50

Usher Syndrome, Type Iia (USH2A)

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

Aliases & Classifications for Usher Syndrome, Type Iia

MalaCards integrated aliases for Usher Syndrome, Type Iia:

Name: Usher Syndrome, Type Iia 57 70
Usher Syndrome, Type 2a 57 73 29 13 6 39
Ush2a 57 12 20 72
Usher Syndrome Type 2a 12 20 15
Usher Syndrome Type Iia 12 72
Retinal Disease in Usher Syndrome Type Iia, Modifier of 57
Usher's Syndrome Type 2a 72
Usher Syndrome 2a 72
Ushiia 72
Ush2 20
Us2 20

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
accounts for 70% of all usher syndrome patients


HPO:

31
usher syndrome, type iia:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110838
OMIM® 57 276901
OMIM Phenotypic Series 57 PS276900
MeSH 44 D052245
ICD10 32 H35.5
MedGen 41 C1848634
SNOMED-CT via HPO 68 258211005 28835009 700453005
UMLS 70 C1848634

Summaries for Usher Syndrome, Type Iia

GARD : 20 Usher syndrome type 2A is a genetic condition characterized by hearing loss from birth and progressive vision loss that begins in adolescence or adulthood. Vision loss is due to retinitis pigmentosa. Night vision loss begins first, followed by blind spots that develop in the side (peripheral) vision. Over time, these blind spots enlarge and merge to produce tunnel vision. In some cases, vision is further impaired by clouding of the front surface of the eye ( cataracts ). Hearing loss ranges from mild to severe and mainly affects high tones. The degree of hearing loss varies within and among families with this condition. Unlike other forms of Usher syndrome, people with type 2A do not have difficulties with balance caused by inner ear problems. Usher syndrome type 2A is caused by mutations the USH2A gene and is inherited in an autosomal recessive manner.

MalaCards based summary : Usher Syndrome, Type Iia, also known as usher syndrome, type 2a, is related to congenital stationary night blindness and vitelliform macular dystrophy. An important gene associated with Usher Syndrome, Type Iia is USH2A (Usherin). Affiliated tissues include eye, retina and breast, and related phenotypes are congenital sensorineural hearing impairment and rod-cone dystrophy

Disease Ontology : 12 An Usher syndrome type 2 characterized by moderate to severe sensorineural hearing loss, mainly affecting perception of high frequency sounds and progressive retinitis pigmentosa that has material basis in homozygous or compound heterozygous mutation in the USH2A gene on chromosome 1q41.

OMIM® : 57 Usher syndrome is a clinically and genetically heterogeneous autosomal recessive disorder characterized by sensorineural hearing deficiencies at birth and later development of progressive retinitis pigmentosa (RP). It is the most frequent cause of combined deafness and blindness in adults and affects 3 to 6% of children born with hearing impairment. In brief, patients with Usher syndrome type II have mild hearing impairment with normal vestibular responses. Type II is the most common of the 3 Usher syndromes (Eudy et al., 1998). See 276900 for clinical characterization of Usher syndrome types I, II, and III. (276901) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 Usher syndrome 2A: USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH2 is characterized by congenital mild hearing impairment with normal vestibular responses.

Wikipedia : 73 Usher syndrome, also known as Hallgren syndrome, Usher-Hallgren syndrome, retinitis pigmentosa-dysacusis... more...

Related Diseases for Usher Syndrome, Type Iia

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 1m Usher Syndrome Type 2
Usher Syndrome, Type 2b

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

(show top 50) (show all 159)
# Related Disease Score Top Affiliating Genes
1 congenital stationary night blindness 31.6 USH2A PCARE EYS CEP290
2 vitelliform macular dystrophy 31.6 USH2A PCARE EYS
3 choroideremia 31.5 USH2A MYO7A CEP290
4 retinitis pigmentosa 71 31.5 USH2A PCARE
5 deafness, autosomal recessive 31 31.5 WHRN USH2A PDZD7 PCARE ADGRV1
6 cone dystrophy 31.5 USH2A PCDH15 EYS CEP290 CDHR1
7 deafness, autosomal dominant 56 31.4 WHRN USH2A SLC26A4 GJB2
8 late-onset retinal degeneration 31.4 WHRN USH2A CEP290 ADGRV1
9 usher syndrome, type ig 31.4 WHRN USH1C PCDH15 MYO7A CDH23
10 choroid disease 31.4 USH2A MYO7A EYS CEP290
11 achromatopsia 31.4 USH2A PCARE EYS CEP290
12 usher syndrome, type iiia 31.2 WHRN USH2A USH1C PDZD7 PCDH15 MYO7A
13 usher syndrome, type iiib 31.2 WHRN USH2A USH1C PCDH15 MYO7A ADGRV1
14 retinitis pigmentosa 39 31.2 USH2A-AS2 USH2A-AS1 USH2A
15 sensory system disease 31.1 USH2A SLC26A4 MYO7A GJB2 CEP290
16 stargardt disease 31.0 USH2A PCARE MYO7A EYS CEP290 CDHR1
17 digenic disease 30.9 WHRN USH2A USH1C PDZD7 PCDH15 MYO7A
18 usher syndrome, type ij 30.9 WHRN USH2A USH1C PDZD7 PCDH15 MYO7A
19 deafness, autosomal recessive 23 30.9 WHRN USH2A USH1C PCDH15 MYO7A GJB2
20 retinal disease 30.8 USH2A USH1C PDZD7 PCDH15 MYO7A EYS
21 nonsyndromic hearing loss 30.8 USH2A-AS1 USH2A SLC26A4 PCDH15 OTOF MYO7A
22 inner ear disease 30.8 USH2A USH1C SLC26A4 PCDH15 OTOF MYO7A
23 usher syndrome, type if 30.8 WHRN USH2A USH1C STRC PDZD7 PCDH15
24 fundus dystrophy 30.8 WHRN USH2A-AS2 USH2A-AS1 USH2A USH1C PDZD7
25 leber plus disease 30.7 WHRN USH2A-AS2 USH2A USH1C PCARE MYO7A
26 bardet-biedl syndrome 30.7 WHRN USH2A USH1C PCDH15 PCARE MYO7A
27 yemenite deaf-blind hypopigmentation syndrome 30.7 USH2A MYO7A CEP290
28 retinitis pigmentosa-deafness syndrome 30.7 WHRN USH2A-AS2 USH2A-AS1 USH2A USH1C PCDH15
29 eye degenerative disease 30.6 WHRN USH2A USH1C PCDH15 MYO7A EYS
30 autosomal recessive non-syndromic sensorineural deafness type dfnb 30.6 WHRN USH2A USH1C STRC SLC26A4 PCDH15
31 nonsyndromic deafness 30.3 PCDH15 GJB2
32 auditory system disease 30.3 WHRN USH2A USH1C STRC SLC26A4 PCDH15
33 deafness, autosomal recessive 12 30.3 WHRN USH2A USH1C STRC SLC26A4 PCDH15
34 branchiootic syndrome 1 30.3 WHRN USH2A-AS1 USH2A SLC26A4 OTOF MYO7A
35 usher syndrome, type i 30.2 WHRN USH2A-AS1 USH2A USH1C STRC SLC26A4
36 autosomal dominant nonsyndromic deafness 30.1 WHRN USH2A USH1C STRC SLC26A4 PDZD7
37 usher syndrome, type id 30.1 WHRN USH2A USH1C STRC SLC26A4 PDZD7
38 usher syndrome, type iid 29.9 WHRN USH2A USH1C PDZD7 PCDH15 MYO7A
39 retinal degeneration 29.8 USH2A USH1C PCARE MYO7A CEP290 CDHR1
40 usher syndrome, type ic 29.8 USH1C PCDH15 MYO7A GJB2 CDH23
41 usher syndrome, type iic 29.5 WHRN USH2A USH1C STRC PDZD7 PCDH15
42 deafness, autosomal recessive 2 29.5 WHRN USH1C SLC26A4 PDZD7 PCDH15 OTOF
43 deafness, autosomal dominant 11 29.4 WHRN USH1C PDZD7 PCDH15 MYO7A GJB2
44 cone-rod dystrophy 2 29.3 USH2A-AS2 USH2A-AS1 USH2A USH1C PCDH15 PCARE
45 sensorineural hearing loss 29.3 WHRN USH2A USH1C STRC SLC26A4 PDZD7
46 rare genetic deafness 29.2 WHRN USH2A-AS2 USH2A-AS1 USH2A USH1C STRC
47 autosomal dominant non-syndromic sensorineural deafness type dfna 29.2 STRC SLC26A4 PCDH15 OTOF MYO7A GJB2
48 usher syndrome 28.9 WHRN USH2A-AS2 USH2A-AS1 USH2A USH1C STRC
49 retinitis pigmentosa 28.9 WHRN USH2A-AS2 USH2A-AS1 USH2A USH1C STRC
50 usher syndrome type 2 28.8 WHRN USH2A-AS2 USH2A-AS1 USH2A USH1C STRC

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



Diseases related to Usher Syndrome, Type Iia

Symptoms & Phenotypes for Usher Syndrome, Type Iia

Human phenotypes related to Usher Syndrome, Type Iia:

31
# Description HPO Frequency HPO Source Accession
1 congenital sensorineural hearing impairment 31 HP:0008527
2 rod-cone dystrophy 31 HP:0000510

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Ears:
hearing loss, congenital, sensorineural, moderate-severe
normal vestibular response

Head And Neck Eyes:
retinitis pigmentosa, progressive

Clinical features from OMIM®:

276901 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Usher Syndrome, Type Iia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.97 ADGRV1 CDH23 ESRRG GJB2 MYO7A OTOF
2 nervous system MP:0003631 9.83 ADGRV1 CDH23 CEP290 GJB2 MYO7A OTOF
3 vision/eye MP:0005391 9.4 ADGRV1 CDH23 CDHR1 CEP290 GJB2 MYO7A

Drugs & Therapeutics for Usher Syndrome, Type Iia

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A First-in-Human Study to Evaluate the Safety and Tolerability of QR-421a in Subjects With Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene Recruiting NCT03780257 Phase 1, Phase 2 QR-421a
2 Rate of Progression in USH2A-related Retinal Degeneration Active, not recruiting NCT03146078
3 Characterizing Rate of Progression in USHer Syndrome (CRUSH) Study Active, not recruiting NCT04820244

Search NIH Clinical Center for Usher Syndrome, Type Iia

Genetic Tests for Usher Syndrome, Type Iia

Genetic tests related to Usher Syndrome, Type Iia:

# Genetic test Affiliating Genes
1 Usher Syndrome, Type 2a 29 PDZD7 USH2A

Anatomical Context for Usher Syndrome, Type Iia

MalaCards organs/tissues related to Usher Syndrome, Type Iia:

40
Eye, Retina, Breast

Publications for Usher Syndrome, Type Iia

Articles related to Usher Syndrome, Type Iia:

(show top 50) (show all 150)
# Title Authors PMID Year
1
Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II. 61 6 57
18273898 2008
2
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. 61 57 6
15015129 2004
3
A common ancestral origin of the frequent and widespread 2299delG USH2A mutation. 6 61 57
11402400 2001
4
Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa. 57 6 61
10729113 2000
5
A mutation (2314delG) in the Usher syndrome type IIA gene: high prevalence and phenotypic variation. 6 57 61
10090909 1999
6
Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa. 61 57 6
9624053 1998
7
PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome. 6 57
20440071 2010
8
Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II. 57 6
19881469 2009
9
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. 6 57
18665195 2009
10
Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II. 6 57
17085681 2006
11
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. 57 6
16098008 2005
12
Disease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotype. 6 57
15671307 2005
13
Mutational spectrum in Usher syndrome type II. 6 57
15025721 2004
14
A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa. 6 61
27318125 2016
15
Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa. 61 6
26927203 2016
16
Usherin, the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cells. 61 57
16301217 2005
17
Identification of novel USH2A mutations: implications for the structure of USH2A protein. 6 61
10909849 2000
18
Three novel mutations and twelve polymorphisms identified in the USH2A gene in Israeli USH2 families. 61 6
10738000 2000
19
Gene mapping of Usher syndrome type IIa: localization of the gene to a 2.1-cM segment on chromosome 1q41. 61 57
7825581 1995
20
Novel recessive PDZD7 biallelic mutations in two Chinese families with non-syndromic hearing loss. 6
29048736 2018
21
The Genetic Basis of Pericentral Retinitis Pigmentosa-A Form of Mild Retinitis Pigmentosa. 6
28981474 2017
22
Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome. 6
28944237 2017
23
Electroretinography Reveals Difference in Cone Function between Syndromic and Nonsyndromic USH2A Patients. 6
28894305 2017
24
Mutation screening in genes known to be responsible for Retinitis Pigmentosa in 98 Small Han Chinese Families. 6
28512305 2017
25
The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands. 6
28000701 2017
26
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. 6
28041643 2017
27
Next-generation sequencing to solve complex inherited retinal dystrophy: A case series of multiple genes contributing to disease in extended families. 6
28761320 2017
28
An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients. 6
27460420 2016
29
Molecular findings from 537 individuals with inherited retinal disease. 6
27208204 2016
30
Panel-Based Population Next-Generation Sequencing for Inherited Retinal Degenerations. 6
27624628 2016
31
Retinal Dystrophy in 6 Young Patients Who Presented with Intermediate Uveitis. 6
27157150 2016
32
Usher syndrome in Denmark: mutation spectrum and some clinical observations. 6
27957503 2016
33
Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents. 6
27344577 2016
34
Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies. 6
27353947 2016
35
Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease. 6
26872967 2016
36
Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel. 6
27032803 2016
37
Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss. 6
26969326 2016
38
Next-generation sequencing-based molecular diagnosis of 12 inherited retinal disease probands of Uyghur ethnicity. 6
26856745 2016
39
Diversity of the Genes Implicated in Algerian Patients Affected by Usher Syndrome. 6
27583663 2016
40
Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome Sequencing. 6
28005958 2016
41
NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa. 6
26667666 2015
42
Whole-exome sequencing identifies USH2A mutations in a pseudo-dominant Usher syndrome family. 6
26310143 2015
43
A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants. 6
25649381 2015
44
Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients. 6
26338283 2015
45
Genetic testing for sporadic hearing loss using targeted massively parallel sequencing identifies 10 novel mutations. 6
24853665 2015
46
DNA sequence analysis and genotype-phenotype assessment in 71 patients with syndromic hearing loss or auditory neuropathy. 6
25991456 2015
47
Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing. 6
25412400 2015
48
Genotype-phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing. 6
25356976 2015
49
Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland. 6
25472526 2015
50
Usher syndrome: an effective sequencing approach to establish a genetic and clinical diagnosis. 6
25575603 2015

Variations for Usher Syndrome, Type Iia

ClinVar genetic disease variations for Usher Syndrome, Type Iia:

6 (show top 50) (show all 1081)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 USH2A NM_007123.5(USH2A):c.779T>G (p.Leu260Ter) SNV Pathogenic 2354 rs121912598 GRCh37: 1:216538300-216538300
GRCh38: 1:216364958-216364958
2 USH2A NM_206933.3(USH2A):c.4474G>T (p.Glu1492Ter) SNV Pathogenic 224745 rs869312179 GRCh37: 1:216348747-216348747
GRCh38: 1:216175405-216175405
3 USH2A NM_007123.5(USH2A):c.485+3A>T SNV Pathogenic 427861 rs1553258031 GRCh37: 1:216595191-216595191
GRCh38: 1:216421849-216421849
4 USH2A NM_007123.5(USH2A):c.2279_2280del (p.Asn760fs) Deletion Pathogenic 522464 rs1553320542 GRCh37: 1:216420456-216420457
GRCh38: 1:216247114-216247115
5 USH2A NM_206933.3(USH2A):c.9372-1G>A SNV Pathogenic 599145 rs1558111861 GRCh37: 1:215990538-215990538
GRCh38: 1:215817196-215817196
6 USH2A NC_000001.11:g.(215728385_215741374)_(215759844_215766680)dup Duplication Pathogenic 812102 GRCh37: 1:215901727-215940022
GRCh38:
7 USH2A-AS1 , USH2A NM_206933.3(USH2A):c.2983C>T (p.Gln995Ter) SNV Pathogenic 143180 rs527236135 GRCh37: 1:216405305-216405305
GRCh38: 1:216231963-216231963
8 USH2A and overlap with 2 gene(s) NM_206933.2(USH2A):c.(784+1_785-1)_(5572+1_5573-1)dup Duplication Pathogenic 565301 GRCh37:
GRCh38: 1:216073301-216364952
9 USH2A NM_206933.3(USH2A):c.11389+3A>T SNV Pathogenic 427867 rs753886165 GRCh37: 1:215931934-215931934
GRCh38: 1:215758592-215758592
10 USH2A-AS1 , USH2A NM_206933.3(USH2A):c.3158-2A>G SNV Pathogenic 236533 rs878853404 GRCh37: 1:216380775-216380775
GRCh38: 1:216207433-216207433
11 USH2A and overlap with 2 gene(s) NC_000001.10:g.216144119_216591855del447737 Deletion Pathogenic 437432 GRCh37: 1:216144119-216591855
GRCh38: 1:215970777-216418513
12 USH2A NM_206933.4(USH2A):c.10699del (p.Gln3566_Leu3567insTer) Deletion Pathogenic 869481 GRCh37: 1:215955425-215955425
GRCh38: 1:215782083-215782083
13 USH2A NM_206933.3(USH2A):c.11174del (p.Phe3725fs) Deletion Pathogenic 635525 rs1571657875 GRCh37: 1:215933059-215933059
GRCh38: 1:215759717-215759717
14 USH2A NM_206933.3(USH2A):c.11389+1G>A SNV Pathogenic 801610 rs368770647 GRCh37: 1:215931936-215931936
GRCh38: 1:215758594-215758594
15 USH2A NM_206933.3(USH2A):c.9827C>A (p.Ser3276Ter) SNV Pathogenic 801612 rs863224941 GRCh37: 1:215972380-215972380
GRCh38: 1:215799038-215799038
16 USH2A NM_206933.3(USH2A):c.7932G>A (p.Trp2644Ter) SNV Pathogenic 801613 rs1571783742 GRCh37: 1:216062059-216062059
GRCh38: 1:215888717-215888717
17 USH2A NM_007123.5(USH2A):c.402del (p.Cys135fs) Deletion Pathogenic 801623 rs1255535680 GRCh37: 1:216595277-216595277
GRCh38: 1:216421935-216421935
18 USH2A NM_206933.4(USH2A):c.6657+1G>A SNV Pathogenic 812103 rs1571876788 GRCh37: 1:216172228-216172228
GRCh38: 1:215998886-215998886
19 USH2A NM_206933.4(USH2A):c.12067-1G>A SNV Pathogenic 812105 rs397517977 GRCh37: 1:215853719-215853719
GRCh38: 1:215680377-215680377
20 USH2A NM_206933.4(USH2A):c.11699A>G (p.Tyr3900Cys) SNV Pathogenic 812117 rs1386612395 GRCh37: 1:215914729-215914729
GRCh38: 1:215741387-215741387
21 USH2A-AS1 , USH2A NM_206933.4(USH2A):c.3841A>T (p.Arg1281Ter) SNV Pathogenic 932236 GRCh37: 1:216371897-216371897
GRCh38: 1:216198555-216198555
22 USH2A NM_206933.4(USH2A):c.14649del (p.Ile4883fs) Deletion Pathogenic 866663 GRCh37: 1:215821006-215821006
GRCh38: 1:215647664-215647664
23 USH2A NM_206933.4(USH2A):c.4396+2T>G SNV Pathogenic 932237 GRCh37: 1:216363563-216363563
GRCh38: 1:216190221-216190221
24 USH2A NM_206933.3(USH2A):c.7501C>T (p.Gln2501Ter) SNV Pathogenic 560525 rs1558151555 GRCh37: 1:216073510-216073510
GRCh38: 1:215900168-215900168
25 USH2A NM_206933.3(USH2A):c.2809+1G>A SNV Pathogenic 801616 rs759433119 GRCh37: 1:216419926-216419926
GRCh38: 1:216246584-216246584
26 USH2A NM_007123.5(USH2A):c.2534del (p.Leu845fs) Deletion Pathogenic 801617 rs1572088481 GRCh37: 1:216420202-216420202
GRCh38: 1:216246860-216246860
27 USH2A NM_007123.5(USH2A):c.1829A>C (p.His610Pro) SNV Pathogenic 801618 rs1571668556 GRCh37: 1:216465528-216465528
GRCh38: 1:216292186-216292186
28 USH2A-AS1 , USH2A NM_007123.5(USH2A):c.3129dup (p.Val1044fs) Duplication Pathogenic 30723 rs786205115 GRCh37: 1:216390756-216390757
GRCh38: 1:216217414-216217415
29 USH2A NM_206933.3(USH2A):c.8890dup (p.Trp2964fs) Duplication Pathogenic 30724 rs786205116 GRCh37: 1:216019330-216019331
GRCh38: 1:215845988-215845989
30 USH2A NM_007123.5(USH2A):c.4603dup (p.His1535fs) Duplication Pathogenic 801614 rs1572020896 GRCh37: 1:216348617-216348618
GRCh38: 1:216175275-216175276
31 USH2A NM_007123.5(USH2A):c.1312_1327dup (p.Asn443fs) Duplication Pathogenic 801620 rs1415157305 GRCh37: 1:216497510-216497511
GRCh38: 1:216324168-216324169
32 USH2A NM_007123.5(USH2A):c.999_1000dup (p.Arg334fs) Duplication Pathogenic 801621 rs1571703770 GRCh37: 1:216498789-216498790
GRCh38: 1:216325447-216325448
33 USH2A NM_206933.4(USH2A):c.532dup (p.Thr178fs) Duplication Pathogenic 813346 rs1571801788 GRCh37: 1:216591974-216591975
GRCh38: 1:216418632-216418633
34 USH2A NM_206933.4(USH2A):c.13465_13466insTG (p.Gly4489fs) Insertion Pathogenic 917733 GRCh37: 1:215847787-215847788
GRCh38: 1:215674445-215674446
35 PDZD7 NM_001195263.2(PDZD7):c.1012del (p.Ser338fs) Deletion Pathogenic 560723 rs1564634581 GRCh37: 10:102778891-102778891
GRCh38: 10:101019134-101019134
36 USH2A NM_206933.4(USH2A):c.11754G>A (p.Trp3918Ter) SNV Pathogenic 813344 rs1358947010 GRCh37: 1:215901684-215901684
GRCh38: 1:215728342-215728342
37 USH2A NM_206933.4(USH2A):c.1614C>A (p.Cys538Ter) SNV Pathogenic 974622 GRCh37: 1:216495255-216495255
GRCh38: 1:216321913-216321913
38 USH2A-AS1 , USH2A NM_007123.5(USH2A):c.4129_4130TC[4] (p.Asn1379fs) Microsatellite Pathogenic 48512 rs397518015 GRCh37: 1:216370011-216370012
GRCh38: 1:216196669-216196670
39 USH2A NM_206933.4(USH2A):c.11897_12003del (p.Gln3966fs) Deletion Pathogenic 981014 GRCh37: 1:215901435-215901541
GRCh38: 1:215728093-215728199
40 USH2A-AS1 , USH2A NM_007123.5(USH2A):c.3435del (p.Val1147fs) Deletion Pathogenic 48502 rs397518012 GRCh37: 1:216373345-216373345
GRCh38: 1:216200003-216200003
41 USH2A NM_206933.4(USH2A):c.4405C>T (p.Gln1469Ter) SNV Pathogenic 208625 rs797045113 GRCh37: 1:216348816-216348816
GRCh38: 1:216175474-216175474
42 USH2A NM_206933.4(USH2A):c.9371+1G>C SNV Pathogenic 48624 rs41308425 GRCh37: 1:216011332-216011332
GRCh38: 1:215837990-215837990
43 USH2A NM_206933.4(USH2A):c.13342_13347del (p.Asp4448_Ser4449del) Deletion Pathogenic 930726 GRCh37: 1:215847906-215847911
GRCh38: 1:215674564-215674569
44 USH2A NM_206933.4(USH2A):c.13339A>T (p.Met4447Leu) SNV Pathogenic 930727 GRCh37: 1:215847914-215847914
GRCh38: 1:215674572-215674572
45 USH2A NM_206933.4(USH2A):c.13335_13337del (p.Glu4445_Asn4446delinsAsp) Deletion Pathogenic 930728 GRCh37: 1:215847916-215847918
GRCh38: 1:215674574-215674576
46 USH2A NM_206933.3(USH2A):c.99_100insT (p.Arg34fs) Insertion Pathogenic 520636 rs141672841 GRCh37: 1:216595579-216595580
GRCh38: 1:216422237-216422238
47 USH2A-AS2 , USH2A NM_206933.3(USH2A):c.5329C>T (p.Arg1777Trp) SNV Pathogenic 662197 rs770329105 GRCh37: 1:216251674-216251674
GRCh38: 1:216078332-216078332
48 USH2A-AS1 , USH2A NM_007123.5(USH2A):c.2898del (p.Thr967fs) Deletion Pathogenic 2352 rs397518008 GRCh37: 1:216405390-216405390
GRCh38: 1:216232048-216232048
49 USH2A NM_206933.3(USH2A):c.240_241insGATC (p.Gln81fs) Insertion Pathogenic 2360 rs587776538 GRCh37: 1:216595438-216595439
GRCh38: 1:216422096-216422097
50 USH2A NM_206933.4(USH2A):c.2209C>T (p.Arg737Ter) SNV Pathogenic 2361 rs111033334 GRCh37: 1:216420527-216420527
GRCh38: 1:216247185-216247185

UniProtKB/Swiss-Prot genetic disease variations for Usher Syndrome, Type Iia:

72 (show top 50) (show all 58)
# Symbol AA change Variation ID SNP ID
1 USH2A p.Cys163Tyr VAR_025761
2 USH2A p.Val218Glu VAR_025762 rs397518026
3 USH2A p.Cys319Tyr VAR_025764 rs121912599
4 USH2A p.Arg334Trp VAR_025765 rs397517963
5 USH2A p.Asn346His VAR_025766 rs369522997
6 USH2A p.Cys419Phe VAR_025767 rs121912600
7 USH2A p.Cys536Arg VAR_025769 rs111033273
8 USH2A p.Leu555Val VAR_025770 rs35818432
9 USH2A p.His610Pro VAR_025771
10 USH2A p.Cys759Phe VAR_025775 rs80338902
11 USH2A p.Pro761Arg VAR_025776
12 USH2A p.Thr1515Met VAR_025779 rs373599651
13 USH2A p.Arg4115Cys VAR_025780 rs111033275
14 USH2A p.Thr4425Met VAR_025781 rs201238640
15 USH2A p.Leu280Phe VAR_054558
16 USH2A p.Glu284Lys VAR_054559
17 USH2A p.Arg303Cys VAR_054560
18 USH2A p.Arg303Ser VAR_054561 rs748465849
19 USH2A p.Arg334Gln VAR_054563 rs758303489
20 USH2A p.Thr352Ile VAR_054564 rs780308389
21 USH2A p.Asn357Thr VAR_054565
22 USH2A p.Pro1212Leu VAR_054579
23 USH2A p.Val1833Glu VAR_054584
24 USH2A p.Ala2249Asp VAR_054588
25 USH2A p.Arg2354His VAR_054591 rs201386640
26 USH2A p.Ala2795Ser VAR_054593
27 USH2A p.Cys3251Arg VAR_054598 rs527236118
28 USH2A p.Cys3267Arg VAR_054599 rs111033263
29 USH2A p.Cys3282Arg VAR_054600
30 USH2A p.Pro3504Thr VAR_054602
31 USH2A p.Trp3521Arg VAR_054603 rs111033264
32 USH2A p.Thr3571Met VAR_054604 rs202175091
33 USH2A p.Gly3895Glu VAR_054608 rs147271400
34 USH2A p.Thr3976Met VAR_054609 rs142381713
35 USH2A p.Ser4054Ile VAR_054610
36 USH2A p.Pro4232Arg VAR_054611 rs745371873
37 USH2A p.Thr4337Met VAR_054612 rs527236137
38 USH2A p.Thr4439Ile VAR_054614 rs753330544
39 USH2A p.Tyr4487Cys VAR_054615 rs768893227
40 USH2A p.Gln4592His VAR_054616 rs135003985
41 USH2A p.Leu4795Arg VAR_054618 rs199851839
42 USH2A p.Pro4818Leu VAR_054619 rs143344549
43 USH2A p.Gly44Arg VAR_071996 rs138179549
44 USH2A p.Ser180Pro VAR_071997 rs117167282
45 USH2A p.Val382Met VAR_071998 rs750651679
46 USH2A p.Cys691Tyr VAR_071999
47 USH2A p.Gly1734Arg VAR_072003
48 USH2A p.Arg1777Trp VAR_072004 rs770329105
49 USH2A p.Gly1840Val VAR_072006
50 USH2A p.Pro1843Leu VAR_072007 rs200209833

Expression for Usher Syndrome, Type Iia

Search GEO for disease gene expression data for Usher Syndrome, Type Iia.

Pathways for Usher Syndrome, Type Iia

GO Terms for Usher Syndrome, Type Iia

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 10.13 WHRN USH2A USH1C STRC PDZD7 PCARE
2 synapse GO:0045202 10 WHRN USH1C PCDH15 OTOF MYO7A ADGRV1
3 cilium GO:0005929 9.97 WHRN STRC PDZD7 PCARE EYS CEP290
4 photoreceptor outer segment GO:0001750 9.85 USH1C PCDH15 PCARE MYO7A EYS
5 photoreceptor connecting cilium GO:0032391 9.73 WHRN USH2A USH1C PDZD7 MYO7A CEP290
6 stereocilium tip GO:0032426 9.71 WHRN USH1C STRC PDZD7
7 photoreceptor inner segment GO:0001917 9.7 WHRN USH2A USH1C PDZD7 PCARE MYO7A
8 USH2 complex GO:1990696 9.67 WHRN USH2A PDZD7 ADGRV1
9 periciliary membrane compartment GO:1990075 9.65 WHRN USH2A ADGRV1
10 stereocilia ankle link GO:0002141 9.62 WHRN USH2A PDZD7 ADGRV1
11 stereocilium bundle GO:0032421 9.54 WHRN USH2A
12 stereocilium membrane GO:0060171 9.51 USH2A ADGRV1
13 stereocilia ankle link complex GO:0002142 9.35 WHRN USH2A USH1C PDZD7 ADGRV1
14 stereocilium GO:0032420 9.23 WHRN USH1C STRC PDZD7 PCDH15 MYO7A

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.95 USH2A PCARE EYS CDH23 ADGRV1
2 visual perception GO:0007601 9.91 USH2A PCARE MYO7A EYS CDH23 ADGRV1
3 inner ear development GO:0048839 9.78 PCDH15 MYO7A GJB2 ADGRV1
4 establishment of protein localization GO:0045184 9.76 WHRN USH2A PDZD7 ADGRV1
5 auditory receptor cell stereocilium organization GO:0060088 9.71 WHRN STRC PDZD7 MYO7A
6 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.67 WHRN STRC PDZD7 ADGRV1
7 inner ear receptor cell stereocilium organization GO:0060122 9.65 WHRN USH1C MYO7A CDH23 ADGRV1
8 photoreceptor cell maintenance GO:0045494 9.63 USH2A USH1C PCDH15 CDHR1 CDH23 ADGRV1
9 equilibrioception GO:0050957 9.62 USH1C PCDH15 MYO7A CDH23
10 eye photoreceptor cell development GO:0042462 9.56 MYO7A CEP290
11 photoreceptor cell outer segment organization GO:0035845 9.54 PCARE CDHR1
12 inner ear receptor cell differentiation GO:0060113 9.52 USH2A MYO7A
13 inner ear auditory receptor cell differentiation GO:0042491 9.51 USH1C MYO7A
14 sensory perception of light stimulus GO:0050953 9.5 WHRN USH2A USH1C PCDH15 MYO7A CDH23
15 maintenance of animal organ identity GO:0048496 9.49 USH2A ADGRV1
16 sensory perception of sound GO:0007605 9.4 WHRN USH2A USH1C STRC SLC26A4 PDZD7

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

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.5 WHRN USH2A PDZD7 MYO7A GJB2 ESRRG
2 calcium ion binding GO:0005509 9.17 PCDH15 OTOF GJB2 EYS CDHR1 CDH23

Sources for Usher Syndrome, Type Iia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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