USH2D
MCID: USH021
MIFTS: 46

Usher Syndrome, Type Iid (USH2D)

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

Aliases & Classifications for Usher Syndrome, Type Iid

MalaCards integrated aliases for Usher Syndrome, Type Iid:

Name: Usher Syndrome, Type Iid 58
Usher Syndrome, Type 2d 58 30 13 6 41
Ush2d 58 12 76
Usher Syndrome Type 2d 12 15
Usher Syndrome Type Iid 12
Usher Syndrome, Type Ii 74
Usher Syndrome 2d 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset of vision loss in young adulthood (<20 years)


HPO:

33
usher syndrome, type iid:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110840
OMIM 58 611383
MeSH 45 D052245
ICD10 34 H35.5
MedGen 43 C1568249
UMLS 74 C1568249

Summaries for Usher Syndrome, Type Iid

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. For a discussion of genetic heterogeneity of Usher syndrome type II, see USH2A (276901). (611383)

MalaCards based summary : Usher Syndrome, Type Iid, also known as usher syndrome, type 2d, is related to dfnb1 and deafness, autosomal recessive 6. An important gene associated with Usher Syndrome, Type Iid is WHRN (Whirlin), and among its related pathways/superpathways are Phototransduction and Metabolism of fat-soluble vitamins. Affiliated tissues include retina and eye, and related phenotypes are hearing impairment and blindness

Disease Ontology : 12 An Usher syndrome type 2 that has material basis in by homozygous or compound heterozygous mutation in the WHRN gene on chromosome 9q32.

UniProtKB/Swiss-Prot : 76 Usher syndrome 2D: USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa and 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.

Related Diseases for Usher Syndrome, Type Iid

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 Iid via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 37)
# Related Disease Score Top Affiliating Genes
1 dfnb1 10.2 MYO7A PCDH15
2 deafness, autosomal recessive 6 10.2 ADGRV1 MYO7A USH2A
3 deafness, autosomal recessive 31 10.2
4 auditory neuropathy spectrum disorder 10.1 MYO7A OPA1
5 deafness, autosomal recessive 85 10.1 CDH23 MYO7A
6 usher syndrome, type iia 10.1 PDZD7 USH1C USH2A WHRN
7 deafness, autosomal recessive 83 10.1 CDH23 MYO7A
8 deafness, autosomal recessive 23 10.1 CDH23 MYO7A PCDH15
9 deafness, autosomal recessive 12 10.1 CDH23 MYO7A PCDH15
10 deafness, autosomal recessive 10.0 PCDH15 PDZD7 USH1C WHRN
11 choroid disease 10.0 RHO RPGR
12 usher syndrome, type ig 10.0 CDH23 MYO7A PCDH15 USH1G
13 auditory system disease 10.0 CDH23 MYO7A PCDH15 USH1C
14 usher syndrome, type ic 9.9 CACNA1D CDH23 MYO7A USH1C
15 oguchi disease 9.9 GRK1 RHO
16 autosomal recessive nonsyndromic deafness 3 9.9 CDH23 MYO7A
17 branchiootic syndrome 1 9.9 CDH23 MYO7A USH1G USH2A WHRN
18 stargardt disease 9.9 MYO7A RHO RPGR
19 bardet-biedl syndrome 9.9 CDH23 MYO7A PCDH15 USH1C
20 usher syndrome, type if 9.8 CDH23 MYO7A PCDH15 USH1C USH1G
21 sensorineural hearing loss 9.8 CDH23 MYO7A PCDH15 USH2A WHRN
22 yemenite deaf-blind hypopigmentation syndrome 9.8 MYO7A RHO RPGR USH2A
23 retinal disease 9.8 MYO7A RHO RPGR USH2A
24 retinal degeneration 9.8 MYO7A RHO RPGR USH1C
25 retinitis pigmentosa-deafness syndrome 9.7 ADGRV1 CDH23 MYO7A PCDH15 USH2A WHRN
26 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.7 CDH23 MYO7A PCDH15 USH1C USH1G WHRN
27 usher syndrome, type id 9.6 ADGRV1 CDH23 MYO7A PCDH15 USH1C USH1G
28 leber congenital amaurosis 9.6 GRK1 MYO7A RHO RPGR USH2A
29 congenital stationary night blindness 9.5 CACNA1D GRK1 GRK7 RHO
30 usher syndrome, type iiia 9.5 ADGRV1 CDH23 MYO7A PCDH15 USH1C USH1G
31 nonsyndromic deafness 9.3 ADGRV1 CDH23 MYO7A PCDH15 PDZD7 USH1C
32 fundus dystrophy 9.3 GRK1 GRK7 MYO7A RHO RPGR USH2A
33 usher syndrome 9.1 ADGRV1 CDH23 MYO7A PCDH15 PDZD7 RPGR
34 usher syndrome, type iic 9.0 ADGRV1 CDH23 MYO7A OPA1 PCDH15 PDZD7
35 usher syndrome type 2 9.0 ADGRV1 CDH23 MYO7A OPA1 PCDH15 PDZD7
36 usher syndrome, type i 9.0 ADGRV1 CDH23 MYO7A PCDH15 PDZD7 RHO
37 retinitis pigmentosa 8.6 ADGRV1 CDH23 GRK1 MYO7A PCDH15 PDZD7

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



Diseases related to Usher Syndrome, Type Iid

Symptoms & Phenotypes for Usher Syndrome, Type Iid

Human phenotypes related to Usher Syndrome, Type Iid:

33
# Description HPO Frequency HPO Source Accession
1 hearing impairment 33 HP:0000365
2 blindness 33 HP:0000618
3 rod-cone dystrophy 33 HP:0000510

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
retinitis pigmentosa
bone-spicule pigmentation in midperiphery of retina
night vision blindness
cataract, subcapsular (in some patients)
waxy optic disc appearance
more
Head And Neck Ears:
no vestibular dysfunction
hearing loss, congenital, moderate

Clinical features from OMIM:

611383

MGI Mouse Phenotypes related to Usher Syndrome, Type Iid:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.02 ADGRV1 CACNA1D CDH23 HPGDS MYO7A OPA1
2 cellular MP:0005384 9.96 CACNA1D CDH23 GRK1 HPGDS MYO7A OPA1
3 hearing/vestibular/ear MP:0005377 9.9 ADGRV1 CACNA1D CDH23 MYO7A OPA1 PCDH15
4 nervous system MP:0003631 9.83 ADGRV1 CACNA1D CDH23 GRK1 HPGDS MYO7A
5 vision/eye MP:0005391 9.44 ADGRV1 CDH23 GRK1 MYO7A OPA1 PCDH15

Drugs & Therapeutics for Usher Syndrome, Type Iid

Search Clinical Trials , NIH Clinical Center for Usher Syndrome, Type Iid

Genetic Tests for Usher Syndrome, Type Iid

Genetic tests related to Usher Syndrome, Type Iid:

# Genetic test Affiliating Genes
1 Usher Syndrome, Type 2d 30 WHRN

Anatomical Context for Usher Syndrome, Type Iid

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

42
Retina, Eye

Publications for Usher Syndrome, Type Iid

Articles related to Usher Syndrome, Type Iid:

(show all 44)
# Title Authors Year
1
Long-term visual outcomes and rehabilitation in Usher syndrome type II after retinal implant Argus II. ( 30134849 )
2018
2
Genetic analysis of a Chinese family with members affected with Usher syndrome type II and Waardenburg syndrome type IV. ( 29106856 )
2017
3
Phenotype of Usher syndrome type II assosiated with compound missense mutations of c.721 C>T and c.1969 C>T in MYO7A in a Chinese Usher syndrome family. ( 26309859 )
2015
4
[Identification of novel compound heterozygous mutations of USH2A gene in a family with Usher syndrome type II]. ( 26037342 )
2015
5
A novel mutation of the USH2C (GPR98) gene in an Iranian family with Usher syndrome type II. ( 25572244 )
2014
6
A Novel Frameshift Mutation of the USH2A Gene in a Korean Patient with Usher Syndrome Type II. ( 23526569 )
2013
7
Whirlin interacts with espin and modulates its actin-regulatory function: an insight into the mechanism of Usher syndrome type II. ( 22048959 )
2012
8
Current understanding of usher syndrome type II. ( 22201796 )
2012
9
Non-USH2A mutations in USH2 patients. ( 22147658 )
2012
10
Seven novel mutations in the long isoform of the USH2A gene in Chinese families with nonsyndromic retinitis pigmentosa and Usher syndrome Type II. ( 21686329 )
2011
11
Clinical utility gene card for: Usher syndrome. ( 21697857 )
2011
12
[Mutational frequencies in usherin(USH2A gene) in 26 Colombian individuals with Usher syndrome type II]. ( 22159486 )
2011
13
Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa. ( 20507924 )
2010
14
Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II. ( 19881469 )
2009
15
Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II. ( 18273898 )
2008
16
Identification of candidate regions for a novel Usher syndrome type II locus. ( 18806881 )
2008
17
Identification of five novel mutations in the long isoform of the USH2A gene in Chinese families with Usher syndrome type II. ( 19023448 )
2008
18
Histopathological and neuroradiological features of Usher syndrome type II. ( 19227024 )
2008
19
A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss. ( 17171570 )
2007
20
Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II. ( 17085681 )
2006
21
Tractional retinal detachment in Usher syndrome type II. ( 16033369 )
2005
22
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. ( 16098008 )
2005
23
Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa. ( 15325563 )
2004
24
Coats-like lesions in Usher syndrome type II. ( 14652768 )
2004
25
Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II. ( 14740321 )
2004
26
Kinetics of visual field loss in Usher syndrome Type II. ( 14985291 )
2004
27
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
28
Mutational spectrum in Usher syndrome type II. ( 15025721 )
2004
29
USH2A mutation analysis in 70 Dutch families with Usher syndrome type II. ( 15241801 )
2004
30
Hearing impairment in Usher syndrome type II. ( 14535570 )
2003
31
Paternal uniparental heterodisomy with partial isodisomy of chromosome 1 in a patient with retinitis pigmentosa without hearing loss and a missense mutation in the Usher syndrome type II gene USH2A. ( 12427073 )
2002
32
Hearing loss in Usher syndrome type II is nonprogressive. ( 12498372 )
2002
33
Spectrum of mutations in USH2A in British patients with Usher syndrome type II. ( 11311042 )
2001
34
Genetic heterogeneity of Usher syndrome type II: localisation to chromosome 5q. ( 10745043 )
2000
35
Prevalence of 2314delG mutation in Spanish patients with Usher syndrome type II (USH2). ( 10916187 )
2000
36
A novel locus for Usher syndrome type II, USH2B, maps to chromosome 3 at p23-24.2. ( 10234513 )
1999
37
Giant retinal tear in Usher syndrome type II: coincidence or association? ( 9564703 )
1998
38
Genetic heterogeneity of Usher syndrome type II in a Dutch population. ( 8880575 )
1996
39
Mapping of the choroideremia-like (CHML) gene at 1q42-qter and mutation analysis in patients with Usher syndrome type II. ( 8188272 )
1994
40
Genetic heterogeneity of Usher syndrome type II. ( 7901420 )
1993
41
An autosomal homologue of the choroideremia gene colocalizes with the Usher syndrome type II locus on the distal part of chromosome 1q. ( 1301160 )
1992
42
A progress report on the localization of Usher syndrome type II to chromosome 1q. ( 1952607 )
1991
43
Mapping recessive ophthalmic diseases: linkage of the locus for Usher syndrome type II to a DNA marker on chromosome 1q. ( 1971808 )
1990
44
Localization of Usher syndrome type II to chromosome 1q. ( 2347588 )
1990

Variations for Usher Syndrome, Type Iid

ClinVar genetic disease variations for Usher Syndrome, Type Iid:

6 (show all 15)
# Gene Variation Type Significance SNP ID Assembly Location
1 WHRN NM_015404.3(WHRN): c.307C> T (p.Gln103Ter) single nucleotide variant Pathogenic rs137852840 GRCh37 Chromosome 9, 117266775: 117266775
2 WHRN NM_015404.3(WHRN): c.307C> T (p.Gln103Ter) single nucleotide variant Pathogenic rs137852840 GRCh38 Chromosome 9, 114504495: 114504495
3 WHRN DFNB31, IVS2DS, G-A, +1 single nucleotide variant Pathogenic
4 WHRN DFNB31, 1-BP DEL, 737C deletion Pathogenic
5 WHRN DFNB31, 1-BP DUP, 680G insertion Pathogenic
6 WHRN NM_015404.3(WHRN): c.1267C> T (p.Arg423Ter) single nucleotide variant Pathogenic rs397517255 GRCh37 Chromosome 9, 117186763: 117186763
7 WHRN NM_015404.3(WHRN): c.1267C> T (p.Arg423Ter) single nucleotide variant Pathogenic rs397517255 GRCh38 Chromosome 9, 114424483: 114424483
8 WHRN NM_015404.3(WHRN): c.191C> A (p.Ala64Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs146655362 GRCh37 Chromosome 9, 117266891: 117266891
9 WHRN NM_015404.3(WHRN): c.191C> A (p.Ala64Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs146655362 GRCh38 Chromosome 9, 114504611: 114504611
10 WHRN NM_015404.3(WHRN): c.643delG (p.Val215Cysfs) deletion Pathogenic rs397517258 GRCh37 Chromosome 9, 117241027: 117241027
11 WHRN NM_015404.3(WHRN): c.643delG (p.Val215Cysfs) deletion Pathogenic rs397517258 GRCh38 Chromosome 9, 114478747: 114478747
12 WHRN NM_015404.3(WHRN): c.2569C> T (p.Gln857Ter) single nucleotide variant Uncertain significance rs727504817 GRCh38 Chromosome 9, 114402909: 114402909
13 WHRN NM_015404.3(WHRN): c.2569C> T (p.Gln857Ter) single nucleotide variant Uncertain significance rs727504817 GRCh37 Chromosome 9, 117165189: 117165189
14 WHRN NM_015404.3(WHRN): c.2027C> G (p.Pro676Arg) single nucleotide variant Uncertain significance rs139279977 GRCh37 Chromosome 9, 117168844: 117168844
15 WHRN NM_015404.3(WHRN): c.2027C> G (p.Pro676Arg) single nucleotide variant Uncertain significance rs139279977 GRCh38 Chromosome 9, 114406564: 114406564

Expression for Usher Syndrome, Type Iid

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

Pathways for Usher Syndrome, Type Iid

GO Terms for Usher Syndrome, Type Iid

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.99 PDZD7 RHO RPGR USH1C USH2A WHRN
2 ciliary basal body GO:0036064 9.78 RPGR USH1G USH2A WHRN
3 photoreceptor outer segment GO:0001750 9.77 MYO7A PCDH15 RHO RPGR USH1C
4 photoreceptor disc membrane GO:0097381 9.63 GRK1 GRK7 RHO
5 photoreceptor connecting cilium GO:0032391 9.63 MYO7A PDZD7 USH1C USH1G USH2A WHRN
6 stereocilia ankle link GO:0002141 9.62 PDZD7 USH1C USH2A WHRN
7 stereocilium tip GO:0032426 9.61 PDZD7 USH1C WHRN
8 USH2 complex GO:1990696 9.58 PDZD7 USH2A WHRN
9 stereocilia ankle link complex GO:0002142 9.56 PDZD7 USH1C USH2A WHRN
10 stereocilium bundle GO:0032421 9.52 USH2A WHRN
11 photoreceptor inner segment GO:0001917 9.5 MYO7A PDZD7 RHO USH1C USH1G USH2A
12 periciliary membrane compartment GO:1990075 9.49 USH2A WHRN
13 stereocilium GO:0032420 9.17 ADGRV1 CDH23 MYO7A PCDH15 PDZD7 USH1C

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 inner ear receptor cell stereocilium organization GO:0060122 9.85 CDH23 MYO7A PCDH15 USH1C USH1G WHRN
2 sensory perception of sound GO:0007605 9.85 ADGRV1 CACNA1D CDH23 MYO7A PCDH15 PDZD7
3 photoreceptor cell maintenance GO:0045494 9.8 ADGRV1 CDH23 PCDH15 RHO USH1C USH1G
4 locomotory behavior GO:0007626 9.74 CDH23 HPGDS PCDH15
5 equilibrioception GO:0050957 9.72 CDH23 MYO7A PCDH15 USH1C USH1G
6 inner ear morphogenesis GO:0042472 9.71 MYO7A USH1C USH1G
7 auditory receptor cell stereocilium organization GO:0060088 9.71 MYO7A PCDH15 PDZD7 WHRN
8 establishment of protein localization GO:0045184 9.69 PDZD7 USH2A WHRN
9 regulation of rhodopsin mediated signaling pathway GO:0022400 9.67 GRK1 GRK7 RHO
10 inner ear auditory receptor cell differentiation GO:0042491 9.65 MYO7A PCDH15 USH1C
11 visual perception GO:0007601 9.65 ADGRV1 CDH23 GRK1 GRK7 MYO7A OPA1
12 inner ear receptor cell differentiation GO:0060113 9.63 MYO7A USH1G USH2A
13 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.56 PCDH15 PDZD7
14 rhodopsin mediated signaling pathway GO:0016056 9.55 GRK1 RHO
15 maintenance of animal organ identity GO:0048496 9.52 ADGRV1 USH2A
16 sensory perception of light stimulus GO:0050953 9.28 ADGRV1 CDH23 MYO7A PCDH15 RHO USH1C
17 response to stimulus GO:0050896 10.03 ADGRV1 CDH23 GRK1 GRK7 OPA1 RHO

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

# Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 9.73 HPGDS MYO7A PDZD7 USH1G USH2A WHRN
2 G protein-coupled receptor kinase activity GO:0004703 9.16 GRK1 GRK7
3 rhodopsin kinase activity GO:0050254 8.96 GRK1 GRK7
4 spectrin binding GO:0030507 8.8 MYO7A USH1C USH1G

Sources for Usher Syndrome, Type Iid

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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