MCID: USH021
MIFTS: 46

Usher Syndrome, Type Iid

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

Aliases & Classifications for Usher Syndrome, Type Iid

MalaCards integrated aliases for Usher Syndrome, Type Iid:

Name: Usher Syndrome, Type Iid 57
Usher Syndrome, Type 2d 57 29 13 6 40
Ush2d 57 12 75
Usher Syndrome Type 2d 12 15
Usher Syndrome Type Iid 12
Usher Syndrome, Type Ii 73
Usher Syndrome 2d 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
usher syndrome, type iid:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 611383
Disease Ontology 12 DOID:0110840
ICD10 33 H35.5
MedGen 42 C1568249
MeSH 44 D052245

Summaries for Usher Syndrome, Type Iid

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. 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 auditory neuropathy spectrum disorder and dfnb1. 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 bone, and related phenotypes are hearing impairment and rod-cone dystrophy

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 : 75 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 2
Usher Syndrome, Type 2b

Diseases related to Usher Syndrome, Type Iid via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 34)
# Related Disease Score Top Affiliating Genes
1 auditory neuropathy spectrum disorder 10.4 MYO7A OPA1
2 dfnb1 10.4 MYO7A PCDH15
3 deafness, autosomal recessive 85 10.3 CDH23 MYO7A
4 deafness, autosomal recessive 6 10.3 ADGRV1 MYO7A USH2A
5 usher syndrome, type ic 10.3 CDH23 MYO7A USH1C
6 deafness, autosomal recessive 83 10.3 CDH23 MYO7A
7 usher syndrome, type iia 10.2 PDZD7 USH1C USH2A WHRN
8 deafness, autosomal recessive 23 10.2 CDH23 MYO7A PCDH15
9 deafness, autosomal recessive 12 10.2 CDH23 MYO7A PCDH15
10 auditory system disease 10.1 CDH23 MYO7A PCDH15
11 usher syndrome, type ig 10.0 CDH23 MYO7A PCDH15 USH1G
12 hereditary night blindness 10.0 GRK1 RHO
13 retinitis pigmentosa-deafness syndrome 9.9 ADGRV1 CDH23 MYO7A PCDH15
14 deafness, autosomal recessive 9.9 PCDH15 USH1C WHRN
15 autosomal recessive nonsyndromic deafness 3 9.8 CDH23 MYO7A
16 bardet-biedl syndrome 9.7 CDH23 MYO7A PCDH15 USH1C
17 stargardt disease 9.7 MYO7A RHO RPGR
18 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.7 CDH23 MYO7A PCDH15 USH1C WHRN
19 usher syndrome, type if 9.7 CDH23 MYO7A PCDH15 USH1C USH1G
20 sensorineural hearing loss 9.6 CDH23 MYO7A PCDH15 USH2A WHRN
21 yemenite deaf-blind hypopigmentation syndrome 9.5 MYO7A RHO RPGR USH2A
22 retinal degeneration 9.5 MYO7A RHO RPGR USH1C
23 leber congenital amaurosis 9.1 GRK1 MYO7A RHO RPGR USH2A
24 usher syndrome, type id 9.1 ADGRV1 CDH23 MYO7A PCDH15 USH1C USH1G
25 usher syndrome, type iiia 9.1 ADGRV1 CDH23 MYO7A PCDH15 USH1C USH1G
26 congenital stationary night blindness 9.1 CACNA1D GRK1 GRK7 RHO
27 retinal disease 8.9 MYO7A PCDH15 RHO RPGR USH1C USH2A
28 nonsyndromic deafness 8.6 ADGRV1 CDH23 MYO7A PCDH15 PDZD7 USH1C
29 fundus dystrophy 8.5 GRK1 GRK7 MYO7A RHO RPGR USH2A
30 usher syndrome, type i 8.2 ADGRV1 CDH23 MYO7A PCDH15 RHO USH1C
31 usher syndrome, type iic 8.2 ADGRV1 CDH23 MYO7A OPA1 PCDH15 PDZD7
32 usher syndrome type 2 8.2 ADGRV1 CDH23 MYO7A OPA1 PCDH15 PDZD7
33 usher syndrome 8.1 ADGRV1 CDH23 MYO7A PCDH15 PDZD7 RPGR
34 retinitis pigmentosa 7.1 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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
hearing loss, congenital, moderate
no vestibular dysfunction

Head And Neck Eyes:
night vision blindness
cataract, subcapsular (in some patients)
retinitis pigmentosa
bone-spicule pigmentation in midperiphery of retina
waxy optic disc appearance
more

Clinical features from OMIM:

611383

Human phenotypes related to Usher Syndrome, Type Iid:

32
# Description HPO Frequency HPO Source Accession
1 hearing impairment 32 HP:0000365
2 rod-cone dystrophy 32 HP:0000510

MGI Mouse Phenotypes related to Usher Syndrome, Type Iid:

46
# 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 PDZD7 RHO USH1G PCDH15 CACNA1D CDH23
3 hearing/vestibular/ear MP:0005377 9.9 ADGRV1 CACNA1D CDH23 MYO7A OPA1 PCDH15
4 nervous system MP:0003631 9.83 GRK1 HPGDS MYO7A OPA1 PCDH15 PDZD7
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 29 WHRN

Anatomical Context for Usher Syndrome, Type Iid

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

41
Retina, Bone

Publications for Usher Syndrome, Type Iid

Articles related to Usher Syndrome, Type Iid:

(show all 41)
# Title Authors Year
1
Genetic analysis of a Chinese family with members affected with Usher syndrome type II and Waardenburg syndrome type IV. ( 29106856 )
2017
2
Phenotype of Usher syndrome type II assosiated with compound missense mutations of c.721 C&amp;gt;T and c.1969 C&amp;gt;T in MYO7A in a Chinese Usher syndrome family. ( 26309859 )
2015
3
[Identification of novel compound heterozygous mutations of USH2A gene in a family with Usher syndrome type II]. ( 26037342 )
2015
4
A novel mutation of the USH2C (GPR98) gene in an Iranian family with Usher syndrome type II. ( 25572244 )
2014
5
A Novel Frameshift Mutation of the USH2A Gene in a Korean Patient with Usher Syndrome Type II. ( 23526569 )
2013
6
Current understanding of usher syndrome type II. ( 22201796 )
2012
7
Whirlin interacts with espin and modulates its actin-regulatory function: an insight into the mechanism of Usher syndrome type II. ( 22048959 )
2012
8
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
9
[Mutational frequencies in usherin(USH2A gene) in 26 Colombian individuals with Usher syndrome type II]. ( 22159486 )
2011
10
Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa. ( 20507924 )
2010
11
Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II. ( 19881469 )
2009
12
Identification of candidate regions for a novel Usher syndrome type II locus. ( 18806881 )
2008
13
Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II. ( 18273898 )
2008
14
Identification of five novel mutations in the long isoform of the USH2A gene in Chinese families with Usher syndrome type II. ( 19023448 )
2008
15
Histopathological and neuroradiological features of Usher syndrome type II. ( 19227024 )
2008
16
Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II. ( 17085681 )
2006
17
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
18
Tractional retinal detachment in Usher syndrome type II. ( 16033369 )
2005
19
Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II. ( 14740321 )
2004
20
Coats-like lesions in Usher syndrome type II. ( 14652768 )
2004
21
Mutational spectrum in Usher syndrome type II. ( 15025721 )
2004
22
Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa. ( 15325563 )
2004
23
USH2A mutation analysis in 70 Dutch families with Usher syndrome type II. ( 15241801 )
2004
24
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
25
Kinetics of visual field loss in Usher syndrome Type II. ( 14985291 )
2004
26
Hearing impairment in Usher syndrome type II. ( 14535570 )
2003
27
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
28
Hearing loss in Usher syndrome type II is nonprogressive. ( 12498372 )
2002
29
Spectrum of mutations in USH2A in British patients with Usher syndrome type II. ( 11311042 )
2001
30
Genetic heterogeneity of Usher syndrome type II: localisation to chromosome 5q. ( 10745043 )
2000
31
Prevalence of 2314delG mutation in Spanish patients with Usher syndrome type II (USH2). ( 10916187 )
2000
32
A novel locus for Usher syndrome type II, USH2B, maps to chromosome 3 at p23-24.2. ( 10234513 )
1999
33
Giant retinal tear in Usher syndrome type II: coincidence or association? ( 9564703 )
1998
34
Genetic heterogeneity of Usher syndrome type II in a Dutch population. ( 8880575 )
1996
35
Mapping of the choroideremia-like (CHML) gene at 1q42-qter and mutation analysis in patients with Usher syndrome type II. ( 8188272 )
1994
36
Genetic heterogeneity of Usher syndrome type II. ( 7901420 )
1993
37
Usher Syndrome Type II ( 20301515 )
1993
38
An autosomal homologue of the choroideremia gene colocalizes with the Usher syndrome type II locus on the distal part of chromosome 1q. ( 1301160 )
1992
39
A progress report on the localization of Usher syndrome type II to chromosome 1q. ( 1952607 )
1991
40
Mapping recessive ophthalmic diseases: linkage of the locus for Usher syndrome type II to a DNA marker on chromosome 1q. ( 1971808 )
1990
41
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 13)
# Gene Variation Type Significance SNP ID Assembly Location
1 WHRN DFNB31, IVS2DS, G-A, +1 single nucleotide variant Pathogenic
2 WHRN NM_015404.3(WHRN): c.307C> T (p.Gln103Ter) single nucleotide variant Pathogenic rs137852840 GRCh37 Chromosome 9, 117266775: 117266775
3 WHRN NM_015404.3(WHRN): c.307C> T (p.Gln103Ter) single nucleotide variant Pathogenic rs137852840 GRCh38 Chromosome 9, 114504495: 114504495
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.643delG (p.Val215Cysfs) deletion Pathogenic rs397517258 GRCh37 Chromosome 9, 117241027: 117241027
9 WHRN NM_015404.3(WHRN): c.643delG (p.Val215Cysfs) deletion Pathogenic rs397517258 GRCh38 Chromosome 9, 114478747: 114478747
10 WHRN NM_015404.3(WHRN): c.2569C> T (p.Gln857Ter) single nucleotide variant Uncertain significance rs727504817 GRCh37 Chromosome 9, 117165189: 117165189
11 WHRN NM_015404.3(WHRN): c.2569C> T (p.Gln857Ter) single nucleotide variant Uncertain significance rs727504817 GRCh38 Chromosome 9, 114402909: 114402909
12 WHRN NM_015404.3(WHRN): c.2027C> G (p.Pro676Arg) single nucleotide variant Uncertain significance rs139279977 GRCh37 Chromosome 9, 117168844: 117168844
13 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 12)
# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.95 PDZD7 RHO RPGR USH1C USH2A WHRN
2 photoreceptor outer segment GO:0001750 9.77 MYO7A PCDH15 RHO RPGR USH1C
3 ciliary basal body GO:0036064 9.69 RPGR USH1G USH2A
4 photoreceptor connecting cilium GO:0032391 9.63 MYO7A PDZD7 USH1C USH1G USH2A WHRN
5 stereocilia ankle link GO:0002141 9.62 PDZD7 USH1C USH2A WHRN
6 photoreceptor disc membrane GO:0097381 9.61 GRK1 GRK7 RHO
7 stereocilium tip GO:0032426 9.58 PDZD7 USH1C WHRN
8 stereocilia ankle link complex GO:0002142 9.56 PDZD7 USH1C USH2A WHRN
9 photoreceptor inner segment GO:0001917 9.5 MYO7A PDZD7 RHO USH1C USH1G USH2A
10 stereocilium bundle GO:0032421 9.49 PCDH15 USH2A
11 USH2 complex GO:1990696 9.46 PDZD7 USH2A
12 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 morphogenesis GO:0042472 9.85 MYO7A PDZD7 USH1C USH1G WHRN
2 visual perception GO:0007601 9.85 ADGRV1 CDH23 GRK1 GRK7 MYO7A OPA1
3 inner ear auditory receptor cell differentiation GO:0042491 9.8 MYO7A PCDH15 PDZD7 USH1C WHRN
4 inner ear receptor cell stereocilium organization GO:0060122 9.8 CDH23 MYO7A PCDH15 USH1C USH1G WHRN
5 photoreceptor cell maintenance GO:0045494 9.8 ADGRV1 CDH23 PCDH15 RHO USH1C USH1G
6 equilibrioception GO:0050957 9.77 CDH23 MYO7A PCDH15 USH1C USH1G
7 locomotory behavior GO:0007626 9.73 CDH23 HPGDS PCDH15
8 auditory receptor cell stereocilium organization GO:0060088 9.73 MYO7A PCDH15 PDZD7 WHRN
9 regulation of rhodopsin mediated signaling pathway GO:0022400 9.7 GRK1 GRK7 RHO
10 inner ear receptor cell development GO:0060119 9.69 PDZD7 USH1C WHRN
11 inner ear receptor cell differentiation GO:0060113 9.67 MYO7A USH1G USH2A
12 sensory perception of sound GO:0007605 9.65 ADGRV1 CACNA1D CDH23 MYO7A PCDH15 PDZD7
13 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.57 PCDH15 PDZD7
14 rhodopsin mediated signaling pathway GO:0016056 9.55 GRK1 RHO
15 maintenance of animal organ identity GO:0048496 9.54 ADGRV1 USH2A
16 sensory perception of light stimulus GO:0050953 9.28 ADGRV1 CDH23 MYO7A PCDH15 RHO USH1C
17 response to stimulus GO:0050896 10.08 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 9.65 HPGDS MYO7A PDZD7 USH1G USH2A
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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....