USH2A
MCID: USH037
MIFTS: 48

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 56 71
Usher Syndrome, Type 2a 56 74 29 13 6 39
Ush2a 56 12 52 73
Usher Syndrome Type 2a 12 52 15
Usher Syndrome Type Iia 12 73
Retinal Disease in Usher Syndrome Type Iia, Modifier of 56
Usher's Syndrome Type 2a 73
Usher Syndrome 2a 73
Ushiia 73
Ush2 52
Us2 52

Characteristics:

OMIM:

56
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 56 276901
OMIM Phenotypic Series 56 PS276900
MeSH 43 D052245
ICD10 32 H35.5
MedGen 41 C1848634
SNOMED-CT via HPO 68 258211005 28835009 700453005
UMLS 71 C1848634

Summaries for Usher Syndrome, Type Iia

NIH Rare Diseases : 52 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 cone dystrophy and non-syndromic genetic deafness. An important gene associated with Usher Syndrome, Type Iia is USH2A (Usherin). Affiliated tissues include retina and eye, 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 : 56 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)

UniProtKB/Swiss-Prot : 73 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 : 74 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 148)
# Related Disease Score Top Affiliating Genes
1 cone dystrophy 32.3 USH2A PCDH15 EYS
2 non-syndromic genetic deafness 31.9 USH2A GJB2
3 deafness, autosomal recessive 31 31.6 WHRN USH2A PDZD7 PCARE ADGRV1
4 retinitis pigmentosa-deafness syndrome 31.6 WHRN CDH23
5 usher syndrome, type ig 31.5 WHRN USH1C PCDH15 CDH23
6 late-onset retinal degeneration 31.4 WHRN USH2A EYS ADGRV1
7 hereditary retinal dystrophy 31.3 USH2A EYS
8 choroid disease 31.2 USH2A MYO7A
9 achromatopsia 31.1 USH2A PCARE MYO7A EYS
10 inherited retinal disorder 30.9 USH2A USH1C PCDH15 PCARE MYO7A EYS
11 deafness, autosomal dominant 56 30.8 WHRN USH2A SLC26A4 GJB2
12 stargardt disease 30.4 USH2A PCARE MYO7A EYS CDHR1
13 leber plus disease 30.4 WHRN USH2A PCARE MYO7A EYS CDHR1
14 nonsyndromic deafness 30.4 PCDH15 GJB2
15 usher syndrome, type iiib 30.4 WHRN USH2A USH1C PCDH15 MYO7A ADGRV1
16 yemenite deaf-blind hypopigmentation syndrome 30.3 USH2A MYO7A
17 eye degenerative disease 30.2 WHRN USH2A USH1C PCDH15 MYO7A EYS
18 usher syndrome, type ih 30.1 WHRN USH2A USH1C PCDH15 MYO7A CDH23
19 usher syndrome, type iiia 30.0 WHRN USH2A USH1C PDZD7 PCDH15 MYO7A
20 retinal disease 29.8 USH2A USH1C PDZD7 PCDH15 MYO7A EYS
21 digenic disease 29.8 WHRN USH2A USH1C PDZD7 PCDH15 MYO7A
22 usher syndrome, type ij 29.8 WHRN USH2A USH1C PDZD7 PCDH15 MYO7A
23 usher syndrome, type if 29.7 WHRN USH2A USH1C STRC PDZD7 PCDH15
24 nonsyndromic hearing loss 29.6 USH2A SLC26A4 PCDH15 OTOF MYO7A GJB2
25 bardet-biedl syndrome 29.5 WHRN USH2A USH1C PCDH15 PCARE MYO7A
26 fundus dystrophy 29.1 WHRN USH2A USH1C PDZD7 PCDH15 PCARE
27 usher syndrome, type ic 28.9 WHRN USH1C PCDH15 MYO7A GJB2 CDH23
28 retinal degeneration 28.8 USH2A USH1C PCARE MYO7A CDHR1 CDH23
29 branchiootic syndrome 1 28.7 WHRN USH2A SLC26A4 OTOF MYO7A GJB2
30 usher syndrome, type iid 28.4 WHRN USH2A USH1C PDZD7 PCDH15 MYO7A
31 usher syndrome, type id 27.9 WHRN USH2A USH1C STRC SLC26A4 PDZD7
32 auditory system disease 27.8 WHRN USH2A USH1C STRC SLC26A4 PCDH15
33 deafness, autosomal recessive 12 27.8 WHRN USH2A USH1C STRC SLC26A4 PCDH15
34 rare genetic deafness 27.7 WHRN USH2A USH1C STRC SLC26A4 PDZD7
35 autosomal dominant nonsyndromic deafness 27.5 WHRN USH2A USH1C STRC SLC26A4 PDZD7
36 usher syndrome, type iic 27.5 WHRN USH2A USH1C STRC PDZD7 PCDH15
37 sensorineural hearing loss 26.4 WHRN USH2A USH1C STRC SLC26A4 PDZD7
38 usher syndrome 26.1 WHRN USH2A USH1C STRC SLC26A4 PDZD7
39 usher syndrome type 2 25.6 WHRN USH2A USH1C STRC SLC26A4 PDZD7
40 usher syndrome, type i 25.5 WHRN USH2A USH1C STRC SLC26A4 PDZD7
41 retinitis pigmentosa 25.2 WHRN USH2A USH1C STRC SLC26A4 PDZD7
42 retinitis pigmentosa 39 12.1
43 congenital stationary night blindness 11.5
44 night blindness 11.5
45 eye disease 11.3
46 choroideremia 11.3
47 distal arthrogryposis 11.2
48 usher syndrome, type 1m 11.1
49 cone-rod dystrophy 2 11.1
50 macular degeneration, age-related, 1 11.1

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:

56
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

MGI Mouse Phenotypes related to Usher Syndrome, Type Iia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.97 ADGRV1 CDH23 ESRRG GJB2 MYO7A OTOF
2 behavior/neurological MP:0005386 9.96 ADGRV1 CDH23 ESRRG GSK3B MYO7A OTOF
3 nervous system MP:0003631 9.8 ADGRV1 CDH23 GJB2 GSK3B MYO7A OTOF
4 vision/eye MP:0005391 9.36 ADGRV1 CDH23 CDHR1 GJB2 MYO7A PCARE

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

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
Retina, Eye

Publications for Usher Syndrome, Type Iia

Articles related to Usher Syndrome, Type Iia:

(show top 50) (show all 64)
# Title Authors PMID Year
1
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 6 56
15015129 2004
2
A common ancestral origin of the frequent and widespread 2299delG USH2A mutation. 61 6 56
11402400 2001
3
Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa. 56 6 61
10729113 2000
4
A mutation (2314delG) in the Usher syndrome type IIA gene: high prevalence and phenotypic variation. 6 56 61
10090909 1999
5
Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa. 61 56 6
9624053 1998
6
PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome. 56 6
20440071 2010
7
Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II. 6 56
19881469 2009
8
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 56
18665195 2009
9
Mutational spectrum in Usher syndrome type II. 6 56
15025721 2004
10
Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II. 56 61
18273898 2008
11
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. 56 61
16301217 2005
12
Gene mapping of Usher syndrome type IIa: localization of the gene to a 2.1-cM segment on chromosome 1q41. 61 56
7825581 1995
13
Novel recessive PDZD7 biallelic mutations in two Chinese families with non-syndromic hearing loss. 6
29048736 2018
14
Audiological findings in 100 USH2 patients. 56
21895633 2012
15
Non-USH2A mutations in USH2 patients. 56
22147658 2012
16
Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapy. 6
22009552 2012
17
Clinical utility gene card for: Usher syndrome. 6
21697857 2011
18
Phenotypes in defined genotypes including siblings with Usher syndrome. 56
21174530 2011
19
Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family. 56
18854872 2009
20
Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients. 6
17405132 2007
21
Novel USH2A mutations in Israeli patients with retinitis pigmentosa and Usher syndrome type 2. 6
17296898 2007
22
Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II. 56
17085681 2006
23
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. 56
16098008 2005
24
Disease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotype. 56
15671307 2005
25
Genetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairments. 56
14970843 2004
26
Kinetics of visual field loss in Usher syndrome Type II. 56
14985291 2004
27
Distinctive audiometric features between USH2A and USH2B subtypes of Usher syndrome. 56
11950859 2002
28
Usher Syndrome Type II 6
20301515 1999
29
Further refinement of the Usher 2A locus at 1q41. 56
9733039 1998
30
Sperm abnormalities in retinitis pigmentosa. 56
9375581 1997
31
Genetic heterogeneity of Usher syndrome type II in a Dutch population. 56
8880575 1996
32
Localization of two genes for Usher syndrome type I to chromosome 11. 56
1478678 1992
33
Case report: retinitis pigmentosa following cytotoxic chemotherapy in Usher's syndrome. 56
1580321 1992
34
Localization of Usher syndrome type II to chromosome 1q. 56
2347588 1990
35
Mapping recessive ophthalmic diseases: linkage of the locus for Usher syndrome type II to a DNA marker on chromosome 1q. 56
1971808 1990
36
Hypersensitivity to DNA-damaging agents in cultured cells from patients with Usher's syndrome and Duchenne muscular dystrophy. 56
6726265 1984
37
A case of Usher syndrome type IIA caused by a rare USH2A homozygous frameshift variant with maternal uniparental disomy (UPD) in a Chinese family. 61
32449591 2020
38
Living with Usher Syndrome: Patient and Physician Perspectives. 61
32388634 2020
39
Establishing Genotype-phenotype Correlation in USH2A-related Disorders to Personalize Audiological Surveillance and Rehabilitation. 61
32176120 2020
40
Establishing Genotype-phenotype Correlation in USH2A-related Disorders to Personalize Audiological Surveillance and Rehabilitation. 61
32068693 2020
41
Life strategies of people with deafblindness due to Usher syndrome type 2a - a qualitative study. 61
31470768 2019
42
Hearing aid fitting for visual and hearing impaired patients with Usher syndrome type IIa. 61
27759911 2017
43
Cochlear Implantation in Patients With Usher Syndrome Type IIa Increases Performance and Quality of Life. 61
28498263 2017
44
A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa. 61
27318125 2016
45
Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa. 61
26927203 2016
46
Audiometric Characteristics of a Dutch DFNA10 Family With Mid-Frequency Hearing Impairment. 61
26331839 2016
47
Expressivity of hearing loss in cases with Usher syndrome type IIA. 61
24160897 2013
48
Whole-exome sequencing identifies novel compound heterozygous mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa. 61
24227914 2013
49
Seven novel mutations in the long isoform of the USH2A gene in Chinese families with nonsyndromic retinitis pigmentosa and Usher syndrome Type II. 61
21686329 2011
50
Usherin is required for maintenance of retinal photoreceptors and normal development of cochlear hair cells. 61
17360538 2007

Variations for Usher Syndrome, Type Iia

ClinVar genetic disease variations for Usher Syndrome, Type Iia:

6 (show top 50) (show all 707) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 USH2A NM_206933.3(USH2A):c.11389+3A>TSNV Pathogenic 427867 rs753886165 1:215931934-215931934 1:215758592-215758592
2 USH2A NM_007123.5(USH2A):c.485+3A>TSNV Pathogenic 427861 rs1553258031 1:216595191-216595191 1:216421849-216421849
3 USH2A NC_000001.10:g.216144119_216591855del447737deletion Pathogenic 437432 1:216144119-216591855 1:215970777-216418513
4 USH2A NM_206933.3(USH2A):c.8167C>T (p.Arg2723Ter)SNV Pathogenic 419282 rs200712760 1:216061824-216061824 1:215888482-215888482
5 USH2A NM_206933.3(USH2A):c.12819T>A (p.Tyr4273Ter)SNV Pathogenic 438008 rs1362058696 1:215848434-215848434 1:215675092-215675092
6 USH2A NM_206933.3(USH2A):c.9571-2A>GSNV Pathogenic 438033 rs751111524 1:215987248-215987248 1:215813906-215813906
7 USH2A NM_206933.3(USH2A):c.4222C>T (p.Gln1408Ter)SNV Pathogenic 438021 rs746551311 1:216369924-216369924 1:216196582-216196582
8 USH2A NM_206933.3(USH2A):c.4957C>T (p.Arg1653Ter)SNV Pathogenic 488733 rs754768875 1:216260091-216260091 1:216086749-216086749
9 USH2A NM_206933.3(USH2A):c.100C>T (p.Arg34Ter)SNV Pathogenic 438000 rs772808534 1:216595579-216595579 1:216422237-216422237
10 USH2A NM_206933.4(USH2A):c.4645C>T (p.Arg1549Ter)SNV Pathogenic 504513 rs199679165 1:216270538-216270538 1:216097196-216097196
11 USH2A NM_206933.3(USH2A):c.7524del (p.Arg2509fs)deletion Pathogenic 517494 rs751176116 1:216073487-216073487 1:215900145-215900145
12 USH2A NM_007123.5(USH2A):c.2279_2280del (p.Asn760fs)deletion Pathogenic 522464 rs1553320542 1:216420456-216420457 1:216247114-216247115
13 USH2A NM_206933.3(USH2A):c.13621C>T (p.Gln4541Ter)SNV Pathogenic 555195 rs765476745 1:215847632-215847632 1:215674290-215674290
14 USH2A NM_206933.3(USH2A):c.13700del (p.Leu4567fs)deletion Pathogenic 555701 rs1212608410 1:215847553-215847553 1:215674211-215674211
15 USH2A NM_206933.3(USH2A):c.10388-1G>ASNV Pathogenic 557493 rs1553261478 1:215956278-215956278 1:215782936-215782936
16 USH2A NM_206933.3(USH2A):c.14977_14978del (p.Phe4993fs)deletion Pathogenic 555201 rs747160949 1:215812571-215812572 1:215639229-215639230
17 USH2A NM_206933.3(USH2A):c.14131C>T (p.Gln4711Ter)SNV Pathogenic 554236 rs747063294 1:215844316-215844316 1:215670974-215670974
18 USH2A NM_206933.3(USH2A):c.13822C>T (p.Arg4608Ter)SNV Pathogenic 557745 rs367674026 1:215844625-215844625 1:215671283-215671283
19 USH2A NM_206933.3(USH2A):c.9270C>A (p.Cys3090Ter)SNV Pathogenic 557177 rs779572631 1:216011434-216011434 1:215838092-215838092
20 USH2A NM_206933.3(USH2A):c.13207_13208del (p.Gly4403fs)deletion Pathogenic 558124 rs746447649 1:215848045-215848046 1:215674703-215674704
21 USH2A NM_206933.3(USH2A):c.8079G>A (p.Trp2693Ter)SNV Pathogenic 553648 rs1553273330 1:216061912-216061912 1:215888570-215888570
22 USH2A NM_206933.3(USH2A):c.5399G>A (p.Trp1800Ter)SNV Pathogenic 556449 rs1553299079 1:216251604-216251604 1:216078262-216078262
23 USH2A NM_206933.3(USH2A):c.8834G>A (p.Trp2945Ter)SNV Pathogenic 557801 rs760302201 1:216040360-216040360 1:215867018-215867018
24 USH2A NM_007123.5(USH2A):c.545_546del (p.Lys182fs)deletion Pathogenic 556324 rs780779563 1:216591961-216591962 1:216418619-216418620
25 USH2A NM_206933.3(USH2A):c.9469C>T (p.Gln3157Ter)SNV Pathogenic 555916 rs772100045 1:215990440-215990440 1:215817098-215817098
26 USH2A NM_206933.3(USH2A):c.3920C>G (p.Ser1307Ter)SNV Pathogenic 553983 rs756623509 1:216371818-216371818 1:216198476-216198476
27 USH2A NM_206933.3(USH2A):c.3883C>T (p.Arg1295Ter)SNV Pathogenic 556829 rs764797292 1:216371855-216371855 1:216198513-216198513
28 USH2A NM_206933.3(USH2A):c.2610C>A (p.Cys870Ter)SNV Pathogenic 557167 rs767078782 1:216420126-216420126 1:216246784-216246784
29 USH2A NM_206933.3(USH2A):c.2797C>T (p.Gln933Ter)SNV Pathogenic 553620 rs1394737087 1:216419939-216419939 1:216246597-216246597
30 USH2A NM_206933.3(USH2A):c.2168-1G>CSNV Pathogenic 556842 rs748961218 1:216420569-216420569 1:216247227-216247227
31 USH2A NM_206933.2(USH2A):c.852_853delGA (p.Glu284Aspfs)short repeat Pathogenic 553452 rs1188025733 1:216498937-216498938 1:216325595-216325596
32 USH2A NM_206933.3(USH2A):c.2023C>T (p.Gln675Ter)SNV Pathogenic 553607 rs868562952 1:216424389-216424389 1:216251047-216251047
33 USH2A NM_206933.3(USH2A):c.236_239dup (p.Gln81fs)duplication Pathogenic 552849 rs1553258097 1:216595439-216595440 1:216422097-216422098
34 USH2A NM_206933.3(USH2A):c.187C>T (p.Arg63Ter)SNV Pathogenic 556744 rs781223647 1:216595492-216595492 1:216422150-216422150
35 USH2A NM_206933.3(USH2A):c.7501C>T (p.Gln2501Ter)SNV Pathogenic 560525 rs1558151555 1:216073510-216073510 1:215900168-215900168
36 USH2A NM_206933.2(USH2A):c.(784+1_785-1)_(5572+1_5573-1)dupduplication Pathogenic 565301 1:216073301-216364952
37 USH2A NM_206933.3(USH2A):c.9372-1G>ASNV Pathogenic 599145 rs1558111861 1:215990538-215990538 1:215817196-215817196
38 USH2A NM_206933.3(USH2A):c.11174del (p.Phe3725fs)deletion Pathogenic 635525 1:215933059-215933059 1:215759717-215759717
39 USH2A NM_206933.3(USH2A):c.8254G>A (p.Gly2752Arg)SNV Pathogenic 636127 1:216052410-216052410 1:215879068-215879068
40 PDZD7 NM_001195263.2(PDZD7):c.1012del (p.Ser338fs)deletion Pathogenic 560723 rs1564634581 10:102778891-102778891 10:101019134-101019134
41 USH2A NM_206933.3(USH2A):c.9827C>A (p.Ser3276Ter)SNV Pathogenic 801612 1:215972380-215972380 1:215799038-215799038
42 USH2A NM_206933.3(USH2A):c.2809+1G>ASNV Pathogenic 801616 1:216419926-216419926 1:216246584-216246584
43 USH2A NM_007123.5(USH2A):c.2534del (p.Leu845fs)deletion Pathogenic 801617 1:216420202-216420202 1:216246860-216246860
44 USH2A NM_007123.5(USH2A):c.1829A>C (p.His610Pro)SNV Pathogenic 801618 1:216465528-216465528 1:216292186-216292186
45 USH2A NM_007123.5(USH2A):c.4603dup (p.His1535fs)duplication Pathogenic 801614 1:216348617-216348618 1:216175275-216175276
46 USH2A NM_007123.5(USH2A):c.1312_1327dup (p.Asn443fs)duplication Pathogenic 801620 1:216497510-216497511 1:216324168-216324169
47 USH2A NM_007123.5(USH2A):c.999_1000dup (p.Arg334fs)duplication Pathogenic 801621 1:216498789-216498790 1:216325447-216325448
48 USH2A NM_007123.5(USH2A):c.402del (p.Cys135fs)deletion Pathogenic 801623 1:216595277-216595277 1:216421935-216421935
49 USH2A NM_206933.4(USH2A):c.11699A>G (p.Tyr3900Cys)SNV Pathogenic 812117 1:215914729-215914729 1:215741387-215741387
50 USH2A NC_000001.11:g.(215728385_215741374)_(215759844_215766680)dupduplication Pathogenic 812102 1:215901727-215940022

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

73 (show top 50) (show all 59)
# 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
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 15)
# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.31 WHRN USH2A USH1C SLC26A4 PDZD7 PCDH15
2 cell projection GO:0042995 10.11 WHRN USH2A USH1C STRC PDZD7 PCARE
3 synapse GO:0045202 10 WHRN USH1C PCDH15 OTOF MYO7A ADGRV1
4 cilium GO:0005929 9.89 WHRN STRC PDZD7 PCARE EYS
5 photoreceptor outer segment GO:0001750 9.83 USH1C PCDH15 PCARE MYO7A EYS
6 photoreceptor inner segment GO:0001917 9.8 WHRN USH2A USH1C PDZD7 PCARE MYO7A
7 photoreceptor connecting cilium GO:0032391 9.77 WHRN USH2A USH1C PDZD7 MYO7A
8 stereocilium tip GO:0032426 9.71 WHRN USH1C STRC PDZD7
9 periciliary membrane compartment GO:1990075 9.65 WHRN USH2A ADGRV1
10 USH2 complex GO:1990696 9.62 WHRN USH2A PDZD7 ADGRV1
11 stereocilium bundle GO:0032421 9.55 WHRN USH2A
12 stereocilia ankle link complex GO:0002142 9.55 WHRN USH2A USH1C PDZD7 ADGRV1
13 stereocilium membrane GO:0060171 9.51 USH2A ADGRV1
14 stereocilia ankle link GO:0002141 9.35 WHRN USH2A USH1C PDZD7 ADGRV1
15 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 18)
# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 10 USH2A PCDH15 PCARE MYO7A EYS CDH23
2 response to stimulus GO:0050896 9.95 USH2A PCARE EYS CDH23 ADGRV1
3 inner ear development GO:0048839 9.8 PCDH15 MYO7A GJB2 ADGRV1
4 establishment of protein localization GO:0045184 9.78 WHRN USH2A PDZD7 ADGRV1
5 auditory receptor cell stereocilium organization GO:0060088 9.77 WHRN STRC PDZD7 PCDH15 MYO7A
6 cell-cell adhesion GO:0098609 9.75 CDHR1 CDH23 ADGRV1
7 homophilic cell adhesion via plasma membrane adhesion molecules GO:0007156 9.74 PCDH15 CDHR1 CDH23
8 inner ear auditory receptor cell differentiation GO:0042491 9.73 USH1C PDZD7 PCDH15 MYO7A
9 photoreceptor cell maintenance GO:0045494 9.73 USH2A USH1C PCDH15 CDHR1 CDH23 ADGRV1
10 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.72 WHRN STRC PDZD7 PCDH15 ADGRV1
11 equilibrioception GO:0050957 9.71 USH1C PCDH15 MYO7A CDH23
12 inner ear receptor cell development GO:0060119 9.69 WHRN USH1C PDZD7
13 inner ear receptor cell stereocilium organization GO:0060122 9.63 WHRN USH1C PCDH15 MYO7A CDH23 ADGRV1
14 photoreceptor cell outer segment organization GO:0035845 9.56 PCARE CDHR1
15 inner ear receptor cell differentiation GO:0060113 9.54 USH2A MYO7A
16 maintenance of animal organ identity GO:0048496 9.52 USH2A ADGRV1
17 sensory perception of light stimulus GO:0050953 9.5 WHRN USH2A USH1C PCDH15 MYO7A CDH23
18 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 calcium ion binding GO:0005509 9.17 PCDH15 OTOF GJB2 EYS CDHR1 CDH23
2 spectrin binding GO:0030507 8.96 USH1C MYO7A

Sources for Usher Syndrome, Type Iia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....