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 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 : 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 all 47)
# Related Disease Score Top Affiliating Genes
1 usher syndrome, type iid 32.6 PDZD7 USH1C USH2A WHRN
2 usher syndrome, type iic 32.3 PDZD7 USH1C USH2A WHRN
3 usher syndrome type 2 31.9 GSK3B PDZD7 USH1C USH2A WHRN
4 deafness, autosomal recessive 6 31.8 GSK3B USH2A
5 usher syndrome, type id 31.7 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 31.2 USH2A WHRN
10 usher syndrome, type i 31.2 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 29.4 PDZD7 RD3 USH1C USH2A WHRN
14 retinitis pigmentosa 39 11.8
15 retinal disease 11.5
16 leber congenital amaurosis 11.1
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 ic 11.0
25 usher syndrome, type if 11.0
26 usher syndrome, type ig 11.0
27 usher syndrome, type iiib 11.0
28 usher syndrome, type ij 11.0
29 yemenite deaf-blind hypopigmentation syndrome 10.9
30 anxiety 10.9
31 distal arthrogryposis 10.9
32 autosomal genetic disease 10.9
33 pain - chronic 10.9
34 dysautonomia 10.9
35 non-syndromic genetic deafness 10.9
36 vaccinia 10.3
37 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
38 herpes simplex 10.1
39 leber congenital amaurosis 4 10.1
40 retinitis 10.1
41 nonsyndromic retinitis pigmentosa 10.1
42 cone dystrophy 10.0
43 heparin-induced thrombocytopenia 10.0
44 deafness, autosomal recessive 10.0 PDZD7 USH1C WHRN
45 deafness, autosomal dominant 44 10.0 EGF EYA4
46 calcifying aponeurotic fibroma 9.9 EGF FN1
47 breast cyst 9.8 EGF TGFB2

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
Retina, Eye

Publications for Usher Syndrome, Type Iia

Articles related to Usher Syndrome, Type Iia:

(show all 19)
# Title Authors Year
1
Cochlear Implantation in Patients With Usher Syndrome Type IIa Increases Performance and Quality of Life. ( 28498263 )
2017
2
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
3
Hearing aid fitting for visual and hearing impaired patients with Usher Syndrome type IIa. ( 27759911 )
2016
4
A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa. ( 27318125 )
2016
5
Expressivity of hearing loss in cases with Usher syndrome type IIA. ( 24160897 )
2013
6
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
7
Immunohistochemistry and reverse transcriptase-polymerase chain reaction as methods for diagnostic determination of usher syndrome type IIa. ( 15235367 )
2004
8
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
9
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
10
Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa. ( 10729113 )
2000
11
A mutation (2314delG) in the Usher syndrome type IIA gene: high prevalence and phenotypic variation. ( 10090909 )
1999
12
Semen analysis in the Usher syndrome type 2A. ( 10325550 )
1999
13
Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa. ( 9624053 )
1998
14
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
15
Hearing loss in the RBF/DnJ mouse, a proposed animal model of Usher syndrome type IIa. ( 9367224 )
1997
16
The construction of a yeast artificial chromosome (YAC) contig in the vicinity of the Usher syndrome type IIa (USH2A) gene in 1q41. ( 8661107 )
1996
17
The Usher syndrome type 2A: clinical findings in obligate carriers. ( 7782174 )
1995
18
Ophthalmologic findings in Usher syndrome type 2A. ( 8749051 )
1995
19
Gene mapping of Usher syndrome type IIa: localization of the gene to a 2.1-cM segment on chromosome 1q41. ( 7825581 )
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 1172)
# Gene Variation Type Significance SNP ID Assembly Location
1 USH2A NM_206933.2(USH2A): c.(?_5299)_(5572_?)del (p.(?)) deletion Pathogenic GRCh37 Chromosome 1, 216251431: 216251704
2 USH2A NM_206933.2(USH2A): c.(?_5299)_(5572_?)del (p.(?)) deletion Pathogenic GRCh38 Chromosome 1, 216078089: 216078362
3 USH2A NM_206933.2(USH2A): c.14276G> A (p.Gly4759Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs112459877 GRCh37 Chromosome 1, 215824001: 215824001
4 USH2A NM_206933.2(USH2A): c.14276G> A (p.Gly4759Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs112459877 GRCh38 Chromosome 1, 215650659: 215650659
5 USH2A NM_206933.2(USH2A): c.14108T> C (p.Leu4703Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs369513607 GRCh37 Chromosome 1, 215844339: 215844339
6 USH2A NM_206933.2(USH2A): c.14108T> C (p.Leu4703Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs369513607 GRCh38 Chromosome 1, 215670997: 215670997
7 USH2A NM_206933.2(USH2A): c.13808A> C (p.His4603Pro) single nucleotide variant Uncertain significance rs727504551 GRCh38 Chromosome 1, 215674103: 215674103
8 USH2A NM_206933.2(USH2A): c.13808A> C (p.His4603Pro) single nucleotide variant Uncertain significance rs727504551 GRCh37 Chromosome 1, 215847445: 215847445
9 USH2A NM_206933.2(USH2A): c.6141G> A (p.Leu2047=) single nucleotide variant Likely benign rs727505165 GRCh37 Chromosome 1, 216221898: 216221898
10 USH2A NM_206933.2(USH2A): c.6141G> A (p.Leu2047=) single nucleotide variant Likely benign rs727505165 GRCh38 Chromosome 1, 216048556: 216048556
11 USH2A NM_206933.2(USH2A): c.5858-12A> G single nucleotide variant Conflicting interpretations of pathogenicity rs727503727 GRCh37 Chromosome 1, 216243646: 216243646
12 USH2A NM_206933.2(USH2A): c.5858-12A> G single nucleotide variant Conflicting interpretations of pathogenicity rs727503727 GRCh38 Chromosome 1, 216070304: 216070304
13 USH2A NM_206933.2(USH2A): c.5752G> A (p.Glu1918Lys) single nucleotide variant Uncertain significance rs529355834 GRCh38 Chromosome 1, 216073121: 216073121
14 USH2A NM_206933.2(USH2A): c.5752G> A (p.Glu1918Lys) single nucleotide variant Uncertain significance rs529355834 GRCh37 Chromosome 1, 216246463: 216246463
15 USH2A NM_206933.3(USH2A): c.4510dup (p.Arg1504Lysfs) duplication Pathogenic rs727503731 GRCh37 Chromosome 1, 216348711: 216348711
16 USH2A NM_206933.3(USH2A): c.4510dup (p.Arg1504Lysfs) duplication Pathogenic rs727503731 GRCh38 Chromosome 1, 216175369: 216175369
17 USH2A NM_206933.2(USH2A): c.(?_8682)_(8845_?)del (p.(?)) deletion Pathogenic GRCh38 Chromosome 1, 215867007: 215867170
18 USH2A NM_206933.2(USH2A): c.(?_8682)_(8845_?)del (p.(?)) deletion Pathogenic GRCh37 Chromosome 1, 216040349: 216040512
19 USH2A NM_206933.2: c.(?_4628)_(4987_?)del deletion Pathogenic GRCh38 Chromosome 1, 216086719: 216097213
20 USH2A NM_206933.2: c.(?_4628)_(4987_?)del deletion Pathogenic GRCh37 Chromosome 1, 216260061: 216270555
21 USH2A NM_206933.2(USH2A): c.15581G> A (p.Arg5194His) single nucleotide variant Conflicting interpretations of pathogenicity rs727505155 GRCh37 Chromosome 1, 215799151: 215799151
22 USH2A NM_206933.2(USH2A): c.15581G> A (p.Arg5194His) single nucleotide variant Conflicting interpretations of pathogenicity rs727505155 GRCh38 Chromosome 1, 215625809: 215625809
23 USH2A NM_206933.2(USH2A): c.15281C> T (p.Pro5094Leu) single nucleotide variant Uncertain significance rs727503714 GRCh37 Chromosome 1, 215807817: 215807817
24 USH2A NM_206933.2(USH2A): c.15281C> T (p.Pro5094Leu) single nucleotide variant Uncertain significance rs727503714 GRCh38 Chromosome 1, 215634475: 215634475
25 USH2A NM_206933.2(USH2A): c.14803C> T (p.Arg4935Ter) single nucleotide variant Pathogenic rs146733615 GRCh37 Chromosome 1, 215814065: 215814065
26 USH2A NM_206933.2(USH2A): c.14803C> T (p.Arg4935Ter) single nucleotide variant Pathogenic rs146733615 GRCh38 Chromosome 1, 215640723: 215640723
27 USH2A NM_206933.2(USH2A): c.14248C> T (p.Gln4750Ter) single nucleotide variant Pathogenic rs727504867 GRCh38 Chromosome 1, 215650687: 215650687
28 USH2A NM_206933.2(USH2A): c.14248C> T (p.Gln4750Ter) single nucleotide variant Pathogenic rs727504867 GRCh37 Chromosome 1, 215824029: 215824029
29 USH2A NM_206933.2(USH2A): c.13374delA (p.Glu4458Aspfs) deletion Pathogenic rs727503715 GRCh37 Chromosome 1, 215847879: 215847879
30 USH2A NM_206933.2(USH2A): c.13374delA (p.Glu4458Aspfs) deletion Pathogenic rs727503715 GRCh38 Chromosome 1, 215674537: 215674537
31 USH2A NM_206933.2(USH2A): c.12877G> A (p.Gly4293Ser) single nucleotide variant Uncertain significance rs727505117 GRCh38 Chromosome 1, 215675034: 215675034
32 USH2A NM_206933.2(USH2A): c.12877G> A (p.Gly4293Ser) single nucleotide variant Uncertain significance rs727505117 GRCh37 Chromosome 1, 215848376: 215848376
33 USH2A NM_206933.2(USH2A): c.6233C> G (p.Pro2078Arg) single nucleotide variant Uncertain significance rs150230450 GRCh37 Chromosome 1, 216219865: 216219865
34 USH2A NM_206933.2(USH2A): c.6233C> G (p.Pro2078Arg) single nucleotide variant Uncertain significance rs150230450 GRCh38 Chromosome 1, 216046523: 216046523
35 USH2A NM_206933.2(USH2A): c.6087A> T (p.Ala2029=) single nucleotide variant Likely benign rs727503726 GRCh37 Chromosome 1, 216221952: 216221952
36 USH2A NM_206933.2(USH2A): c.6087A> T (p.Ala2029=) single nucleotide variant Likely benign rs727503726 GRCh38 Chromosome 1, 216048610: 216048610
37 USH2A NM_206933.2(USH2A): c.5877delT (p.Ser1961Glnfs) deletion Pathogenic/Likely pathogenic rs727505343 GRCh37 Chromosome 1, 216243615: 216243615
38 USH2A NM_206933.2(USH2A): c.5877delT (p.Ser1961Glnfs) deletion Pathogenic/Likely pathogenic rs727505343 GRCh38 Chromosome 1, 216070273: 216070273
39 USH2A NM_206933.2(USH2A): c.5844T> C (p.Arg1948=) single nucleotide variant Likely benign rs147930567 GRCh37 Chromosome 1, 216246244: 216246244
40 USH2A NM_206933.2(USH2A): c.5844T> C (p.Arg1948=) single nucleotide variant Likely benign rs147930567 GRCh38 Chromosome 1, 216072902: 216072902
41 USH2A NM_206933.2(USH2A): c.6795_6797delATA (p.Glu2265_Tyr2266delinsAsp) deletion Likely pathogenic rs727503723 GRCh38 Chromosome 1, 215993028: 215993030
42 USH2A NM_206933.2(USH2A): c.6795_6797delATA (p.Glu2265_Tyr2266delinsAsp) deletion Likely pathogenic rs727503723 GRCh37 Chromosome 1, 216166370: 216166372
43 USH2A NM_206933.3(USH2A): c.12295-?_14133+?del deletion Likely pathogenic GRCh37 Chromosome 1, 215844314: 215848958
44 USH2A NM_206933.3(USH2A): c.12295-?_14133+?del deletion Likely pathogenic GRCh38 Chromosome 1, 215670972: 215675616
45 USH2A NM_206933.2: c.(?_785)_(1840_?)del deletion Pathogenic GRCh37 Chromosome 1, 216465517: 216500996
46 USH2A NM_206933.2: c.(?_785)_(1840_?)del deletion Pathogenic GRCh38 Chromosome 1, 216292175: 216327654
47 USH2A NM_206933.2(USH2A): c.12505A> G (p.Thr4169Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs113107803 GRCh37 Chromosome 1, 215848748: 215848748
48 USH2A NM_206933.2(USH2A): c.12505A> G (p.Thr4169Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs113107803 GRCh38 Chromosome 1, 215675406: 215675406
49 USH2A NM_206933.2(USH2A): c.11956A> G (p.Thr3986Ala) single nucleotide variant Uncertain significance rs727505322 GRCh37 Chromosome 1, 215901482: 215901482
50 USH2A NM_206933.2(USH2A): c.11956A> G (p.Thr3986Ala) single nucleotide variant Uncertain significance rs727505322 GRCh38 Chromosome 1, 215728140: 215728140

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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