USH2A
MCID: USH037
MIFTS: 47

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 58 74
Usher Syndrome, Type 2a 58 77 30 13 6 41
Ush2a 58 12 54 76
Usher Syndrome Type 2a 12 54 15
Usher Syndrome Type Iia 12 76
Retinal Disease in Usher Syndrome Type Iia, Modifier of 58
Usher's Syndrome Type 2a 76
Usher Syndrome 2a 76
Ushiia 76
Ush2 54
Us2 54

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
accounts for 70% of all usher syndrome patients


HPO:

33
usher syndrome, type iia:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110838
OMIM 58 276901
MeSH 45 D052245
ICD10 34 H35.5
MedGen 43 C1848634
UMLS 74 C1848634

Summaries for Usher Syndrome, Type Iia

NIH Rare Diseases : 54 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 usher syndrome, type iid and usher syndrome, type iic. 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 eye and retina, 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 : 58 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 : 76 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 : 77 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 51)
# Related Disease Score Top Affiliating Genes
1 usher syndrome, type iid 32.7 PDZD7 USH1C USH2A WHRN
2 usher syndrome, type iic 32.3 PDZD7 USH1C USH2A WHRN
3 usher syndrome type 2 32.0 GSK3B PDZD7 USH1C USH2A WHRN
4 deafness, autosomal recessive 6 31.8 GSK3B USH2A
5 usher syndrome, type id 31.8 USH1C USH2A
6 usher syndrome, type iiia 31.7 USH1C USH2A WHRN
7 sensorineural hearing loss 31.6 EYA4 USH2A WHRN
8 retinitis pigmentosa-deafness syndrome 31.3 USH2A WHRN
9 branchiootic syndrome 1 31.3 USH2A WHRN
10 usher syndrome, type i 31.3 GSK3B PDZD7 USH1C USH2A WHRN
11 nonsyndromic deafness 31.0 EYA4 PDZD7 USH1C USH2A WHRN
12 usher syndrome 30.8 PDZD7 USH1C USH2A WHRN
13 retinitis pigmentosa 29.5 PDZD7 RD3 USH1C USH2A WHRN
14 retinitis pigmentosa 39 12.1
15 retinal disease 11.5
16 leber congenital amaurosis 11.2
17 deafness, autosomal dominant 13 11.1
18 legionnaire disease 11.1
19 stargardt disease 11.1
20 amblyopia 11.1
21 ovarian lymphoma 11.1
22 fundus dystrophy 11.1
23 hemometra 11.1
24 usher syndrome, type if 11.0
25 usher syndrome, type ig 11.0
26 usher syndrome, type iiib 11.0
27 usher syndrome, type ij 11.0
28 yemenite deaf-blind hypopigmentation syndrome 10.9
29 anxiety 10.9
30 distal arthrogryposis 10.9
31 autosomal genetic disease 10.9
32 pain - chronic 10.9
33 dysautonomia 10.9
34 non-syndromic genetic deafness 10.9
35 vaccinia 10.3
36 herpes simplex 10.3
37 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
38 retinitis pigmentosa 40 10.1
39 blood group, gerbich system 10.1
40 leber congenital amaurosis 4 10.1
41 retinitis 10.1
42 nonsyndromic retinitis pigmentosa 10.1
43 usher syndrome, type ic 10.0
44 deafness, autosomal recessive 31 10.0
45 cone dystrophy 10.0
46 heparin-induced thrombocytopenia 10.0
47 usher syndrome, type 2b 10.0
48 deafness, autosomal recessive 10.0 PDZD7 USH1C WHRN
49 deafness, autosomal dominant 44 9.9 EGF EYA4
50 calcifying aponeurotic fibroma 9.9 EGF FN1

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:

33
# Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 33 HP:0000510
2 congenital sensorineural hearing impairment 33 HP:0008527

Symptoms via clinical synopsis from OMIM:

58
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:

47
# 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 Study to Evaluate Safety and Tolerability of QR-421a in Subjects With 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 30 PDZD7 USH2A

Anatomical Context for Usher Syndrome, Type Iia

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

42
Eye, Retina

Publications for Usher Syndrome, Type Iia

Articles related to Usher Syndrome, Type Iia:

(show all 29)
# Title Authors Year
1
Novel recessive PDZD7 biallelic mutations in two Chinese families with non-syndromic hearing loss. ( 29048736 )
2018
2
Hearing aid fitting for visual and hearing impaired patients with Usher syndrome type IIa. ( 27759911 )
2017
3
Cochlear Implantation in Patients With Usher Syndrome Type IIa Increases Performance and Quality of Life. ( 28498263 )
2017
4
Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa. ( 26927203 )
2016
5
A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa. ( 27318125 )
2016
6
Expressivity of hearing loss in cases with Usher syndrome type IIA. ( 24160897 )
2013
7
Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapy. ( 22009552 )
2012
8
Clinical utility gene card for: Usher syndrome. ( 21697857 )
2011
9
PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome. ( 20440071 )
2010
10
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 )
2009
11
Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II. ( 19881469 )
2009
12
Novel USH2A mutations in Israeli patients with retinitis pigmentosa and Usher syndrome type 2. ( 17296898 )
2007
13
Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients. ( 17405132 )
2007
14
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. ( 16301217 )
2005
15
Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II. ( 15015129 )
2004
16
Mutational spectrum in Usher syndrome type II. ( 15025721 )
2004
17
Immunohistochemistry and reverse transcriptase-polymerase chain reaction as methods for diagnostic determination of usher syndrome type IIa. ( 15235367 )
2004
18
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. ( 12160733 )
2002
19
A common ancestral origin of the frequent and widespread 2299delG USH2A mutation. ( 11402400 )
2001
20
Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa. ( 10729113 )
2000
21
A mutation (2314delG) in the Usher syndrome type IIA gene: high prevalence and phenotypic variation. ( 10090909 )
1999
22
Semen analysis in the Usher syndrome type 2A. ( 10325550 )
1999
23
Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa. ( 9624053 )
1998
24
Isolation of a gene encoding a novel member of the nuclear receptor superfamily from the critical region of Usher syndrome type IIa at 1q41. ( 9676434 )
1998
25
Hearing loss in the RBF/DnJ mouse, a proposed animal model of Usher syndrome type IIa. ( 9367224 )
1997
26
The construction of a yeast artificial chromosome (YAC) contig in the vicinity of the Usher syndrome type IIa (USH2A) gene in 1q41. ( 8661107 )
1996
27
The Usher syndrome type 2A: clinical findings in obligate carriers. ( 7782174 )
1995
28
Gene mapping of Usher syndrome type IIa: localization of the gene to a 2.1-cM segment on chromosome 1q41. ( 7825581 )
1995
29
Ophthalmologic findings in Usher syndrome type 2A. ( 8749051 )
1995

Variations for Usher Syndrome, Type Iia

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

76 (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

ClinVar genetic disease variations for Usher Syndrome, Type Iia:

6 (show top 50) (show all 1188)
# Gene Variation Type Significance SNP ID Assembly Location
1 USH2A NM_206933.2(USH2A): c.2299delG (p.Glu767Serfs) deletion Pathogenic/Likely pathogenic rs80338903 GRCh37 Chromosome 1, 216420437: 216420437
2 USH2A NM_206933.2(USH2A): c.2299delG (p.Glu767Serfs) deletion Pathogenic/Likely pathogenic rs80338903 GRCh38 Chromosome 1, 216247095: 216247095
3 USH2A NM_206933.2(USH2A): c.2898delG (p.Thr967Leufs) deletion Pathogenic rs397518008 GRCh37 Chromosome 1, 216405390: 216405390
4 USH2A NM_206933.2(USH2A): c.2898delG (p.Thr967Leufs) deletion Pathogenic rs397518008 GRCh38 Chromosome 1, 216232048: 216232048
5 USH2A NM_007123.5(USH2A): c.4338_4339delCT (p.Cys1447Glnfs) deletion Pathogenic rs111033367 GRCh37 Chromosome 1, 216363622: 216363623
6 USH2A NM_007123.5(USH2A): c.4338_4339delCT (p.Cys1447Glnfs) deletion Pathogenic rs111033367 GRCh38 Chromosome 1, 216190280: 216190281
7 USH2A NM_206933.2(USH2A): c.779T> G (p.Leu260Ter) single nucleotide variant Pathogenic rs121912598 GRCh37 Chromosome 1, 216538300: 216538300
8 USH2A NM_206933.2(USH2A): c.779T> G (p.Leu260Ter) single nucleotide variant Pathogenic rs121912598 GRCh38 Chromosome 1, 216364958: 216364958
9 USH2A NM_206933.2(USH2A): c.956G> A (p.Cys319Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs121912599 GRCh37 Chromosome 1, 216498834: 216498834
10 USH2A NM_206933.2(USH2A): c.956G> A (p.Cys319Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs121912599 GRCh38 Chromosome 1, 216325492: 216325492
11 USH2A NM_206933.2(USH2A): c.2276G> T (p.Cys759Phe) single nucleotide variant Pathogenic/Likely pathogenic rs80338902 GRCh37 Chromosome 1, 216420460: 216420460
12 USH2A NM_206933.2(USH2A): c.2276G> T (p.Cys759Phe) single nucleotide variant Pathogenic/Likely pathogenic rs80338902 GRCh38 Chromosome 1, 216247118: 216247118
13 USH2A NM_206933.2(USH2A): c.11864G> A (p.Trp3955Ter) single nucleotide variant Pathogenic rs111033364 GRCh37 Chromosome 1, 215901574: 215901574
14 USH2A NM_206933.2(USH2A): c.11864G> A (p.Trp3955Ter) single nucleotide variant Pathogenic rs111033364 GRCh38 Chromosome 1, 215728232: 215728232
15 USH2A NM_206933.2(USH2A): c.949C> A (p.Arg317=) single nucleotide variant Pathogenic rs111033272 GRCh37 Chromosome 1, 216498841: 216498841
16 USH2A NM_206933.2(USH2A): c.949C> A (p.Arg317=) single nucleotide variant Pathogenic rs111033272 GRCh38 Chromosome 1, 216325499: 216325499
17 USH2A NM_206933.2(USH2A): c.1256G> T (p.Cys419Phe) single nucleotide variant Pathogenic rs121912600 GRCh37 Chromosome 1, 216497582: 216497582
18 USH2A NM_206933.2(USH2A): c.1256G> T (p.Cys419Phe) single nucleotide variant Pathogenic rs121912600 GRCh38 Chromosome 1, 216324240: 216324240
19 USH2A NM_206933.2(USH2A): c.240_241insGATC (p.Gln81Aspfs) insertion Pathogenic rs587776538 GRCh37 Chromosome 1, 216595438: 216595439
20 USH2A NM_206933.2(USH2A): c.240_241insGATC (p.Gln81Aspfs) insertion Pathogenic rs587776538 GRCh38 Chromosome 1, 216422096: 216422097
21 USH2A NM_206933.2(USH2A): c.2209C> T (p.Arg737Ter) single nucleotide variant Pathogenic rs111033334 GRCh37 Chromosome 1, 216420527: 216420527
22 USH2A NM_206933.2(USH2A): c.2209C> T (p.Arg737Ter) single nucleotide variant Pathogenic rs111033334 GRCh38 Chromosome 1, 216247185: 216247185
23 CDH23 NM_022124.5(CDH23): c.6442G> A (p.Asp2148Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs111033271 GRCh37 Chromosome 10, 73553127: 73553127
24 CDH23 NM_022124.5(CDH23): c.6442G> A (p.Asp2148Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs111033271 GRCh38 Chromosome 10, 71793370: 71793370
25 USH2A NM_206933.2(USH2A): c.7595-2144A> G single nucleotide variant Pathogenic rs786200928 GRCh37 Chromosome 1, 216064540: 216064540
26 USH2A NM_206933.2(USH2A): c.7595-2144A> G single nucleotide variant Pathogenic rs786200928 GRCh38 Chromosome 1, 215891198: 215891198
27 USH2A NM_206933.2(USH2A): c.3129dupT (p.Val1044Cysfs) duplication Pathogenic rs786205115 GRCh38 Chromosome 1, 216217415: 216217415
28 USH2A NM_206933.2(USH2A): c.3129dupT (p.Val1044Cysfs) duplication Pathogenic rs786205115 GRCh37 Chromosome 1, 216390757: 216390757
29 USH2A NM_206933.2(USH2A): c.8890dupT (p.Trp2964Leufs) duplication Pathogenic rs786205116 GRCh37 Chromosome 1, 216019331: 216019331
30 USH2A NM_206933.2(USH2A): c.8890dupT (p.Trp2964Leufs) duplication Pathogenic rs786205116 GRCh38 Chromosome 1, 215845989: 215845989
31 PDZD7 NM_001195263.1(PDZD7): c.166dupC (p.Arg56Profs) duplication Pathogenic,risk factor rs587776894 GRCh37 Chromosome 10, 102789811: 102789811
32 PDZD7 NM_001195263.1(PDZD7): c.166dupC (p.Arg56Profs) duplication Pathogenic,risk factor rs587776894 GRCh38 Chromosome 10, 101030054: 101030054
33 USH2A NM_206933.2(USH2A): c.11411delC (p.Pro3804Leufs) deletion Pathogenic rs397517973 GRCh37 Chromosome 1, 215916656: 215916656
34 USH2A NM_206933.2(USH2A): c.14911C> T (p.Arg4971Ter) single nucleotide variant Pathogenic rs397517994 GRCh37 Chromosome 1, 215813957: 215813957
35 USH2A NM_206933.2(USH2A): c.6224G> A (p.Trp2075Ter) single nucleotide variant Pathogenic rs111033386 GRCh37 Chromosome 1, 216219874: 216219874
36 USH2A NM_206933.2(USH2A): c.1227G> C (p.Trp409Cys) single nucleotide variant Likely pathogenic rs397517979 GRCh37 Chromosome 1, 216497611: 216497611
37 USH2A NM_206933.2(USH2A): c.1227G> C (p.Trp409Cys) single nucleotide variant Likely pathogenic rs397517979 GRCh38 Chromosome 1, 216324269: 216324269
38 USH2A NM_206933.2(USH2A): c.12294+1G> C single nucleotide variant Likely pathogenic rs111033526 GRCh37 Chromosome 1, 215853490: 215853490
39 USH2A NM_206933.2(USH2A): c.12294+1G> C single nucleotide variant Likely pathogenic rs111033526 GRCh38 Chromosome 1, 215680148: 215680148
40 USH2A NM_206933.2(USH2A): c.3435delA (p.Val1147Serfs) deletion Pathogenic rs397518012 GRCh37 Chromosome 1, 216373345: 216373345
41 USH2A NM_206933.2(USH2A): c.3435delA (p.Val1147Serfs) deletion Pathogenic rs397518012 GRCh38 Chromosome 1, 216200003: 216200003
42 USH2A NM_007123.5(USH2A): c.3547_3548delAT (p.Ile1183Phefs) deletion Conflicting interpretations of pathogenicity rs397518013 GRCh37 Chromosome 1, 216373232: 216373233
43 USH2A NM_206933.2(USH2A): c.6224G> A (p.Trp2075Ter) single nucleotide variant Pathogenic rs111033386 GRCh38 Chromosome 1, 216046532: 216046532
44 USH2A NM_206933.2(USH2A): c.1000C> G (p.Arg334Gly) single nucleotide variant Uncertain significance rs397517963 GRCh37 Chromosome 1, 216498790: 216498790
45 USH2A NM_206933.2(USH2A): c.1000C> G (p.Arg334Gly) single nucleotide variant Uncertain significance rs397517963 GRCh38 Chromosome 1, 216325448: 216325448
46 USH2A NM_206933.2(USH2A): c.10190_10191delAA (p.Lys3397Argfs) deletion Pathogenic/Likely pathogenic rs397517964 GRCh37 Chromosome 1, 215960208: 215960209
47 USH2A NM_206933.2(USH2A): c.10190_10191delAA (p.Lys3397Argfs) deletion Pathogenic/Likely pathogenic rs397517964 GRCh38 Chromosome 1, 215786866: 215786867
48 USH2A NM_206933.3(USH2A): c.1036A> C (p.Asn346His) single nucleotide variant Pathogenic rs369522997 GRCh37 Chromosome 1, 216498754: 216498754
49 USH2A NM_206933.3(USH2A): c.1036A> C (p.Asn346His) single nucleotide variant Pathogenic rs369522997 GRCh38 Chromosome 1, 216325412: 216325412
50 USH2A NM_206933.2(USH2A): c.10450C> T (p.Arg3484Ter) single nucleotide variant Pathogenic/Likely pathogenic rs111033379 GRCh37 Chromosome 1, 215956215: 215956215

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 EGF FN1 GSK3B TGFB2
2 11.35 EGF GSK3B TGFB2
3
Show member pathways
10.49 EGF GSK3B TGFB2

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 EGF FN1 TGFB2
2 photoreceptor inner segment GO:0001917 9.62 PDZD7 USH1C USH2A WHRN
3 stereocilium GO:0032420 9.58 PDZD7 USH1C WHRN
4 photoreceptor connecting cilium GO:0032391 9.56 PDZD7 USH1C USH2A WHRN
5 stereocilium tip GO:0032426 9.54 PDZD7 USH1C WHRN
6 stereocilium bundle GO:0032421 9.48 USH2A WHRN
7 periciliary membrane compartment GO:1990075 9.43 USH2A WHRN
8 USH2 complex GO:1990696 9.33 PDZD7 USH2A WHRN
9 stereocilia ankle link GO:0002141 9.26 PDZD7 USH1C USH2A WHRN
10 stereocilia ankle link complex GO:0002142 8.92 PDZD7 USH1C USH2A WHRN

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

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 EGF ESRRG EYA4 FN1 GSK3B HLX

Sources for Usher Syndrome, Type Iia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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