USH2A
MCID: USH037
MIFTS: 49

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 72
Usher Syndrome, Type 2a 57 75 29 13 6 40
Ush2a 57 12 53 74
Usher Syndrome Type 2a 12 53 15
Usher Syndrome Type Iia 12 74
Retinal Disease in Usher Syndrome Type Iia, Modifier of 57
Usher's Syndrome Type 2a 74
Usher Syndrome 2a 74
Ushiia 74
Ush2 53
Us2 53

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
accounts for 70% of all usher syndrome patients


HPO:

32
usher syndrome, type iia:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110838
MeSH 44 D052245
ICD10 33 H35.5
MedGen 42 C1848634
UMLS 72 C1848634

Summaries for Usher Syndrome, Type Iia

NIH Rare Diseases : 53 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 deafness, autosomal recessive 6 and usher syndrome, type id. An important gene associated with Usher Syndrome, Type Iia is USH2A (Usherin), and among its related pathways/superpathways are Pathways in cancer and Colorectal Cancer Metastasis. Affiliated tissues include retina and eye, and related phenotypes are rod-cone dystrophy and congenital sensorineural hearing impairment

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)

UniProtKB/Swiss-Prot : 74 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 : 75 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 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 72)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 6 32.1 USH2A GSK3B
2 usher syndrome, type id 32.0 USH2A USH1C
3 usher syndrome, type iiia 31.9 WHRN USH2A USH1C
4 retinitis pigmentosa-deafness syndrome 31.5 WHRN USH2A
5 nonsyndromic deafness 31.3 WHRN USH2A USH1C PDZD7 EYA4
6 usher syndrome 30.7 WHRN USH2A USH1C PDZD7
7 branchiootic syndrome 1 30.4 WHRN USH2A
8 sensorineural hearing loss 29.9 WHRN USH2A EYA4
9 usher syndrome type 2 29.8 WHRN USH2A USH1C PDZD7 GSK3B
10 retinitis pigmentosa 29.8 WHRN USH2A USH1C RD3 PDZD7
11 usher syndrome, type iid 29.7 WHRN USH2A USH1C PDZD7
12 usher syndrome, type iic 29.7 WHRN USH2A USH1C PDZD7
13 usher syndrome, type i 29.3 WHRN USH2A USH1C PDZD7 GSK3B
14 retinitis pigmentosa 39 12.2
15 leber congenital amaurosis 11.7
16 inherited retinal disorder 11.7
17 retinal disease 11.6
18 deafness, autosomal dominant 13 11.5
19 fundus dystrophy 11.5
20 congenital stationary night blindness 11.4
21 chronic pain 11.3
22 dysautonomia 11.3
23 cone-rod dystrophy 2 11.2
24 anxiety 11.2
25 legionnaire disease 11.2
26 distal arthrogryposis 11.2
27 amblyopia 11.2
28 ovarian lymphoma 11.2
29 hemometra 11.2
30 usher syndrome, type if 11.1
31 usher syndrome, type ig 11.1
32 usher syndrome, type iiib 11.1
33 usher syndrome, type ij 11.1
34 stargardt disease 11.0
35 autosomal genetic disease 11.0
36 non-syndromic genetic deafness 11.0
37 neuroretinitis 10.6
38 retinitis 10.6
39 herpes simplex 10.6
40 vaccinia 10.4
41 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
42 autosomal recessive disease 10.3
43 hemochromatosis, type 1 10.3
44 hemosiderosis 10.3
45 astrocytoma 10.3
46 rare hereditary hemochromatosis 10.3
47 night blindness 10.3
48 yemenite deaf-blind hypopigmentation syndrome 10.2
49 retinitis pigmentosa 40 10.2
50 cone dystrophy 10.2

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:

32
# Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 32 HP:0000510
2 congenital sensorineural hearing impairment 32 HP:0008527

Symptoms via clinical synopsis from OMIM:

57
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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.91 EGF ESRRG EYA4 FN1 GSK3B HLX
2 digestive/alimentary MP:0005381 9.8 EGF EYA4 GSK3B HLX TGFB2 USH1C
3 hearing/vestibular/ear MP:0005377 9.7 ESRRG EYA4 PDZD7 TGFB2 USH1C USH2A
4 nervous system MP:0003631 9.61 FN1 GSK3B HLX PDZD7 RD3 TGFB2
5 vision/eye MP:0005391 9.17 EGF PDZD7 RD3 TGFB2 USH1C USH2A

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:

41
Retina, Eye

Publications for Usher Syndrome, Type Iia

Articles related to Usher Syndrome, Type Iia:

(show top 50) (show all 59)
# 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. 38 8 71
15015129 2004
2
A common ancestral origin of the frequent and widespread 2299delG USH2A mutation. 38 8 71
11402400 2001
3
Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa. 38 8 71
10729113 2000
4
A mutation (2314delG) in the Usher syndrome type IIA gene: high prevalence and phenotypic variation. 38 8 71
10090909 1999
5
Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa. 38 8 71
9624053 1998
6
PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome. 8 71
20440071 2010
7
Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II. 8 71
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. 8 71
18665195 2009
9
Mutational spectrum in Usher syndrome type II. 8 71
15025721 2004
10
Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II. 38 8
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. 38 8
16301217 2005
12
Gene mapping of Usher syndrome type IIa: localization of the gene to a 2.1-cM segment on chromosome 1q41. 38 8
7825581 1995
13
Novel recessive PDZD7 biallelic mutations in two Chinese families with non-syndromic hearing loss. 71
29048736 2018
14
Audiological findings in 100 USH2 patients. 8
21895633 2012
15
Non-USH2A mutations in USH2 patients. 8
22147658 2012
16
Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapy. 71
22009552 2012
17
Clinical utility gene card for: Usher syndrome. 71
21697857 2011
18
Phenotypes in defined genotypes including siblings with Usher syndrome. 8
21174530 2011
19
Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family. 8
18854872 2009
20
Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients. 71
17405132 2007
21
Novel USH2A mutations in Israeli patients with retinitis pigmentosa and Usher syndrome type 2. 71
17296898 2007
22
Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II. 8
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. 8
16098008 2005
24
Disease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotype. 8
15671307 2005
25
Genetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairments. 8
14970843 2004
26
Kinetics of visual field loss in Usher syndrome Type II. 8
14985291 2004
27
Distinctive audiometric features between USH2A and USH2B subtypes of Usher syndrome. 8
11950859 2002
28
Usher Syndrome Type II 71
20301515 1999
29
Further refinement of the Usher 2A locus at 1q41. 8
9733039 1998
30
Sperm abnormalities in retinitis pigmentosa. 8
9375581 1997
31
Genetic heterogeneity of Usher syndrome type II in a Dutch population. 8
8880575 1996
32
Localization of two genes for Usher syndrome type I to chromosome 11. 8
1478678 1992
33
Case report: retinitis pigmentosa following cytotoxic chemotherapy in Usher's syndrome. 8
1580321 1992
34
Mapping recessive ophthalmic diseases: linkage of the locus for Usher syndrome type II to a DNA marker on chromosome 1q. 8
1971808 1990
35
Localization of Usher syndrome type II to chromosome 1q. 8
2347588 1990
36
Hypersensitivity to DNA-damaging agents in cultured cells from patients with Usher's syndrome and Duchenne muscular dystrophy. 8
6726265 1984
37
Hearing aid fitting for visual and hearing impaired patients with Usher syndrome type IIa. 38
27759911 2017
38
Cochlear Implantation in Patients With Usher Syndrome Type IIa Increases Performance and Quality of Life. 38
28498263 2017
39
A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa. 38
27318125 2016
40
Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa. 38
26927203 2016
41
Audiometric Characteristics of a Dutch DFNA10 Family With Mid-Frequency Hearing Impairment. 38
26331839 2016
42
Expressivity of hearing loss in cases with Usher syndrome type IIA. 38
24160897 2013
43
Whole-exome sequencing identifies novel compound heterozygous mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa. 38
24227914 2013
44
Seven novel mutations in the long isoform of the USH2A gene in Chinese families with nonsyndromic retinitis pigmentosa and Usher syndrome Type II. 38
21686329 2011
45
Usherin is required for maintenance of retinal photoreceptors and normal development of cochlear hair cells. 38
17360538 2007
46
Evidence for functional importance of usherin/fibronectin interactions in retinal basement membranes. 38
16114888 2005
47
Immunohistochemistry and reverse transcriptase-polymerase chain reaction as methods for diagnostic determination of usher syndrome type IIa. 38
15235367 2004
48
Audiological findings in Usher syndrome types IIa and II (non-IIa). 38
15198377 2004
49
A domain-specific usherin/collagen IV interaction may be required for stable integration into the basement membrane superstructure. 38
14676276 2004
50
Identification of the mouse and rat orthologs of the gene mutated in Usher syndrome type IIA and the cellular source of USH2A mRNA in retina, a target tissue of the disease. 38
12160733 2002

Variations for Usher Syndrome, Type Iia

ClinVar genetic disease variations for Usher Syndrome, Type Iia:

6 (show top 50) (show all 595)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 USH2A NM_206933.3(USH2A): c.1227G> A (p.Trp409Ter) single nucleotide variant Pathogenic rs397517979 1:216497611-216497611 1:216324269-216324269
2 USH2A NM_206933.3(USH2A): c.11389+3A> T single nucleotide variant Pathogenic rs753886165 1:215931934-215931934 1:215758592-215758592
3 USH2A NM_206933.3(USH2A): c.485+3A> T single nucleotide variant Pathogenic rs1553258031 1:216595191-216595191 1:216421849-216421849
4 USH2A NC_000001.10: g.216144119_216591855del447737 deletion Pathogenic 1:216144119-216591855 1:215970777-216418513
5 USH2A NM_206933.3(USH2A): c.13576C> T (p.Arg4526Ter) single nucleotide variant Pathogenic rs1003869920 1:215847677-215847677 1:215674335-215674335
6 USH2A NM_206933.3(USH2A): c.12819T> A (p.Tyr4273Ter) single nucleotide variant Pathogenic rs1362058696 1:215848434-215848434 1:215675092-215675092
7 USH2A NM_206933.3(USH2A): c.9571-2A> G single nucleotide variant Pathogenic rs751111524 1:215987248-215987248 1:215813906-215813906
8 USH2A NM_206933.3(USH2A): c.4222C> T (p.Gln1408Ter) single nucleotide variant Pathogenic rs746551311 1:216369924-216369924 1:216196582-216196582
9 USH2A NM_206933.3(USH2A): c.100C> T (p.Arg34Ter) single nucleotide variant Pathogenic rs772808534 1:216595579-216595579 1:216422237-216422237
10 USH2A NM_206933.3(USH2A): c.4957C> T (p.Arg1653Ter) single nucleotide variant Pathogenic rs754768875 1:216260091-216260091 1:216086749-216086749
11 USH2A NM_206933.3(USH2A): c.1876C> T (p.Arg626Ter) single nucleotide variant Pathogenic rs534534437 1:216462717-216462717 1:216289375-216289375
12 USH2A NM_206933.3(USH2A): c.11047+1G> A single nucleotide variant Pathogenic rs201730567 1:215940022-215940022 1:215766680-215766680
13 USH2A NM_206933.3(USH2A): c.4645C> T (p.Arg1549Ter) single nucleotide variant Pathogenic rs199679165 1:216270538-216270538 1:216097196-216097196
14 USH2A NM_206933.3(USH2A): c.7524del (p.Arg2509fs) deletion Pathogenic rs751176116 1:216073487-216073487 1:215900145-215900145
15 USH2A NM_206933.3(USH2A): c.2279_2280del (p.Asn760fs) deletion Pathogenic rs1553320542 1:216420456-216420457 1:216247114-216247115
16 USH2A NM_206933.3(USH2A): c.11241C> A (p.Tyr3747Ter) single nucleotide variant Pathogenic rs777465132 1:215932085-215932085 1:215758743-215758743
17 USH2A NM_206933.3(USH2A): c.13621C> T (p.Gln4541Ter) single nucleotide variant Pathogenic rs765476745 1:215847632-215847632 1:215674290-215674290
18 USH2A NM_206933.3(USH2A): c.13700del (p.Leu4567fs) deletion Pathogenic rs1212608410 1:215847552-215847553 1:215674211-215674211
19 USH2A NM_206933.3(USH2A): c.10388-1G> A single nucleotide variant Pathogenic rs1553261478 1:215956278-215956278 1:215782936-215782936
20 USH2A NM_206933.3(USH2A): c.14977_14978del (p.Phe4993fs) deletion Pathogenic rs747160949 1:215812570-215812572 1:215639229-215639230
21 USH2A NM_206933.3(USH2A): c.14131C> T (p.Gln4711Ter) single nucleotide variant Pathogenic rs747063294 1:215844316-215844316 1:215670974-215670974
22 USH2A NM_206933.3(USH2A): c.13822C> T (p.Arg4608Ter) single nucleotide variant Pathogenic rs367674026 1:215844625-215844625 1:215671283-215671283
23 USH2A NM_206933.3(USH2A): c.9270C> A (p.Cys3090Ter) single nucleotide variant Pathogenic rs779572631 1:216011434-216011434 1:215838092-215838092
24 USH2A NM_206933.3(USH2A): c.13207_13208del (p.Gly4403fs) deletion Pathogenic rs746447649 1:215848044-215848046 1:215674703-215674704
25 USH2A NM_206933.3(USH2A): c.8557A> T (p.Arg2853Ter) single nucleotide variant Pathogenic rs749452910 1:216052107-216052107 1:215878765-215878765
26 USH2A NM_206933.3(USH2A): c.8079G> A (p.Trp2693Ter) single nucleotide variant Pathogenic rs1553273330 1:216061912-216061912 1:215888570-215888570
27 USH2A NM_206933.3(USH2A): c.5399G> A (p.Trp1800Ter) single nucleotide variant Pathogenic rs1553299079 1:216251604-216251604 1:216078262-216078262
28 USH2A NM_206933.3(USH2A): c.8834G> A (p.Trp2945Ter) single nucleotide variant Pathogenic rs760302201 1:216040360-216040360 1:215867018-215867018
29 USH2A NM_206933.3(USH2A): c.545_546del (p.Lys182fs) deletion Pathogenic rs780779563 1:216591960-216591962 1:216418619-216418620
30 USH2A NM_206933.3(USH2A): c.9469C> T (p.Gln3157Ter) single nucleotide variant Pathogenic rs772100045 1:215990440-215990440 1:215817098-215817098
31 USH2A NM_206933.3(USH2A): c.3920C> G (p.Ser1307Ter) single nucleotide variant Pathogenic rs756623509 1:216371818-216371818 1:216198476-216198476
32 USH2A NM_206933.3(USH2A): c.3883C> T (p.Arg1295Ter) single nucleotide variant Pathogenic rs764797292 1:216371855-216371855 1:216198513-216198513
33 USH2A NM_206933.3(USH2A): c.2610C> A (p.Cys870Ter) single nucleotide variant Pathogenic rs767078782 1:216420126-216420126 1:216246784-216246784
34 USH2A NM_206933.3(USH2A): c.2797C> T (p.Gln933Ter) single nucleotide variant Pathogenic rs1394737087 1:216419939-216419939 1:216246597-216246597
35 USH2A NM_206933.3(USH2A): c.2168-1G> C single nucleotide variant Pathogenic rs748961218 1:216420569-216420569 1:216247227-216247227
36 USH2A NM_206933.2(USH2A): c.852_853delGA (p.Glu284Aspfs) deletion Pathogenic rs1188025733 1:216498936-216498938 1:216325595-216325596
37 USH2A NM_206933.3(USH2A): c.2023C> T (p.Gln675Ter) single nucleotide variant Pathogenic rs868562952 1:216424389-216424389 1:216251047-216251047
38 USH2A NM_206933.3(USH2A): c.236_239dup (p.Gln81fs) duplication Pathogenic rs1553258097 1:216595439-216595439 1:216422098-216422101
39 USH2A NM_206933.3(USH2A): c.187C> T (p.Arg63Ter) single nucleotide variant Pathogenic rs781223647 1:216595492-216595492 1:216422150-216422150
40 USH2A NM_206933.3(USH2A): c.7501C> T (p.Gln2501Ter) single nucleotide variant Pathogenic 1:216073510-216073510 1:215900168-215900168
41 USH2A NM_206933.2(USH2A): c.(784+1_785-1)_(5572+1_5573-1)dup duplication Pathogenic
42 PDZD7 NM_001195263.2(PDZD7): c.1012del (p.Ser338fs) deletion Pathogenic 10:102778891-102778891 10:101019134-101019134
43 USH2A NM_206933.3(USH2A): c.2898del (p.Thr967fs) deletion Pathogenic rs397518008 1:216405390-216405390 1:216232048-216232048
44 USH2A NM_206933.3(USH2A): c.4334_4335CT[2] (p.Cys1447fs) short repeat Pathogenic rs111033367 1:216363622-216363623 1:216190280-216190281
45 USH2A NM_206933.3(USH2A): c.779T> G (p.Leu260Ter) single nucleotide variant Pathogenic rs121912598 1:216538300-216538300 1:216364958-216364958
46 USH2A NM_206933.3(USH2A): c.7595-2144A> G single nucleotide variant Pathogenic rs786200928 1:216064540-216064540 1:215891198-215891198
47 USH2A NM_206933.3(USH2A): c.3129dup (p.Val1044fs) duplication Pathogenic rs786205115 1:216390757-216390757 1:216217415-216217415
48 USH2A NM_206933.3(USH2A): c.8890dup (p.Trp2964fs) duplication Pathogenic rs786205116 1:216019331-216019331 1:215845989-215845989
49 PDZD7 NM_001195263.2(PDZD7): c.166dup (p.Arg56fs) duplication Pathogenic,risk factor rs587776894 10:102789811-102789811 10:101030054-101030054
50 USH2A NM_206933.3(USH2A): c.7244C> G (p.Ser2415Ter) single nucleotide variant Pathogenic rs397518029 1:216108014-216108014 1:215934672-215934672

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

74 (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

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

# Super pathways Score Top Affiliating Genes
1 12.18 TGFB2 GSK3B FN1 EGF
2 11.35 TGFB2 GSK3B EGF
3
Show member pathways
10.49 TGFB2 GSK3B EGF

GO Terms for Usher Syndrome, Type Iia

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

# Name GO ID Score Top Affiliating Genes
1 platelet alpha granule lumen GO:0031093 9.63 TGFB2 FN1 EGF
2 photoreceptor inner segment GO:0001917 9.62 WHRN USH2A USH1C PDZD7
3 stereocilium GO:0032420 9.58 WHRN USH1C PDZD7
4 photoreceptor connecting cilium GO:0032391 9.56 WHRN USH2A USH1C PDZD7
5 stereocilium tip GO:0032426 9.54 WHRN USH1C PDZD7
6 stereocilium bundle GO:0032421 9.48 WHRN USH2A
7 periciliary membrane compartment GO:1990075 9.43 WHRN USH2A
8 USH2 complex GO:1990696 9.33 WHRN USH2A PDZD7
9 stereocilia ankle link complex GO:0002142 9.26 WHRN USH2A USH1C PDZD7
10 stereocilia ankle link GO:0002141 8.92 WHRN USH2A USH1C PDZD7

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.76 TGFB2 HLX FN1 EGF
2 angiogenesis GO:0001525 9.69 TGFB2 FN1 EGF
3 positive regulation of gene expression GO:0010628 9.67 WHRN GSK3B FN1 EGF
4 visual perception GO:0007601 9.61 USH2A RD3 EYA4
5 extrinsic apoptotic signaling pathway GO:0097191 9.52 TGFB2 GSK3B
6 platelet degranulation GO:0002576 9.5 TGFB2 FN1 EGF
7 photoreceptor cell maintenance GO:0045494 9.49 USH2A USH1C
8 epithelial to mesenchymal transition GO:0001837 9.48 TGFB2 GSK3B
9 inner ear receptor cell stereocilium organization GO:0060122 9.4 WHRN USH1C
10 establishment of protein localization GO:0045184 9.33 WHRN USH2A PDZD7
11 auditory receptor cell stereocilium organization GO:0060088 9.26 WHRN PDZD7
12 sensory perception of light stimulus GO:0050953 9.13 WHRN USH2A USH1C
13 sensory perception of sound GO:0007605 9.02 WHRN USH2A USH1C PDZD7 EYA4

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.44 WHRN USH2A USH1C TGFB2 RD3 PDZD7

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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