MCID: USH034
MIFTS: 41

Usher Syndrome, Type 2d

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

Aliases & Classifications for Usher Syndrome, Type 2d

MalaCards integrated aliases for Usher Syndrome, Type 2d:

Name: Usher Syndrome, Type 2d 54 29 13
Usher Syndrome Type 2d 12 24 14
Ush2d 12 24 71
Usher Syndrome Type Iid 12
Usher Syndrome, Type Ii 69
Usher Syndrome 2d 71

Characteristics:

OMIM:

54
Miscellaneous:
onset of vision loss in young adulthood (<20 years)

Inheritance:
autosomal recessive


HPO:

32
usher syndrome, type 2d:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 611383
Disease Ontology 12 DOID:0110840
ICD10 33 H35.5
MedGen 40 C1568249
MeSH 42 D052245

Summaries for Usher Syndrome, Type 2d

OMIM : 54
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 2d, also known as usher syndrome type 2d, is related to diabetes persistent mullerian ducts and robinow syndrome, autosomal dominant 1, and has symptoms including rod-cone dystrophy and hearing impairment. An important gene associated with Usher Syndrome, Type 2d is WHRN (Whirlin), and among its related pathways/superpathways are Phototransduction and Metabolism of fat-soluble vitamins. Affiliated tissues include bone and retina, and related phenotypes are behavior/neurological and cellular

UniProtKB/Swiss-Prot : 71 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.

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.

Related Diseases for Usher Syndrome, Type 2d

Diseases in the Usher Syndrome family:

Usher Syndrome, Type 2a Usher Syndrome, Type 3a
Usher Syndrome, Type 2c Usher Syndrome Type 3b
Usher Syndrome, Type 2d Usher Syndrome, Type Ik
Usher Syndrome, Type 1d Usher Syndrome, Type 1f
Usher Syndrome, Type 1c Usher Syndrome, Type 1b
Usher Syndrome, Type Ij Usher Syndrome, Type 1g
Usher Syndrome Type 2 Usher Syndrome Type 1h
Usher Syndrome, Type 2b

Diseases related to Usher Syndrome, Type 2d via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 34)
id Related Disease Score Top Affiliating Genes
1 diabetes persistent mullerian ducts 10.5 MYO7A PCDH15
2 robinow syndrome, autosomal dominant 1 10.3 ADGRV1 MYO7A USH2A
3 bifid nose with or without anorectal and renal anomalies 10.3 CDH23 MYO7A
4 autosomal dominant nonsyndromic deafness 69 10.3 USH1C USH1G
5 usher syndrome, type 2a 10.3 PDZD7 USH1C USH2A WHRN
6 ectodermal dysplasia 6, hair/nail type 10.2 CDH23 MYO7A
7 autosomal recessive nonsyndromic deafness 8 10.2 CDH23 MYO7A
8 hyperphenylalaninemia, mild, non-bh4-deficient 10.2 CDH23 MYO7A PCDH15
9 hereditary retinal dystrophy 10.2 GRK1 RHO
10 narcissistic personality disorder 10.1 CDH23 MYO7A PCDH15
11 deafness, autosomal recessive 23 10.1 MYO7A PCDH15 USH1C USH1G
12 endometritis 10.1 CDH23 MYO7A USH2A
13 deafness, autosomal recessive 18a 10.1 CDH23 MYO7A USH1C USH1G
14 pituitary adenoma 10.0 CDH23 MYO7A PCDH15 USH1C
15 congenital muscular dystrophy due to lmna mutation 9.9 CDH23 MYO7A
16 osteopoikilosis and dacryocystitis 9.9 RHO RPGR USH2A
17 tendinitis 9.8 MYO7A RHO RPGR
18 discrete papular lichen myxedematosus 9.8 CDH23 MYO7A PCDH15 USH1C WHRN
19 amelogenesis imperfecta, type ig 9.8 CDH23 MYO7A PCDH15 USH1C USH1G
20 impetigo 9.8 RHO RPGR USH2A
21 trichomoniasis 9.7 CDH23 MYO7A PCDH15 USH1C USH2A
22 whipple disease 9.6 MYO7A RHO RPGR USH1C
23 limbal stem cell deficiency 9.3 GRK1 MYO7A RHO RPGR USH2A
24 deafness, autosomal recessive 12 9.3 ADGRV1 CDH23 MYO7A PCDH15 USH1C USH1G
25 retinitis pigmentosa 61 9.3 ADGRV1 CDH23 MYO7A PCDH15 USH1C USH1G
26 hereditary breast ovarian cancer 9.1 MYO7A PCDH15 RHO RPGR USH1C USH2A
27 deafness, autosomal recessive 2 9.1 ADGRV1 CDH23 MYO7A PCDH15 USH1C USH1G
28 autosomal recessive nonsyndromic deafness 9.1 ADGRV1 CDH23 MYO7A PCDH15 USH1C USH1G
29 posterior polar cataract 8.9 CACNA1D GRK1 GRK7 RHO RPGR
30 trichohepatoenteric syndrome 1 8.5 ADGRV1 CDH23 MYO7A OPA1 PCDH15 PDZD7
31 usher syndrome type 1h 8.5 ADGRV1 CDH23 MYO7A OPA1 PCDH15 PDZD7
32 brugada syndrome 8.4 ADGRV1 CDH23 MYO7A PCDH15 PDZD7 RPGR
33 scar contracture 7.6 ADGRV1 CDH23 GRK1 MYO7A PCDH15 PDZD7
34 asthma-related traits 8 4.8 ADGRV1 CACNA1D CDH23 GRK1 GRK7 HPGDS

Graphical network of the top 20 diseases related to Usher Syndrome, Type 2d:



Diseases related to Usher Syndrome, Type 2d

Symptoms & Phenotypes for Usher Syndrome, Type 2d

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Eyes:
attenuated vessels, mild to moderate
bone-spicule pigmentation in midperiphery of retina
waxy optic disc appearance
retinitis pigmentosa
night vision blindness
more
Head And Neck- Ears:
no vestibular dysfunction
hearing loss, congenital, moderate


Clinical features from OMIM:

611383

Human phenotypes related to Usher Syndrome, Type 2d:

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

MGI Mouse Phenotypes related to Usher Syndrome, Type 2d:

44
id 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 USH1G USH2A WHRN ADGRV1 CACNA1D CDH23
4 nervous system MP:0003631 9.83 USH2A WHRN ADGRV1 CACNA1D CDH23 GRK1
5 vision/eye MP:0005391 9.44 ADGRV1 CDH23 GRK1 MYO7A OPA1 PCDH15

Drugs & Therapeutics for Usher Syndrome, Type 2d

Search Clinical Trials , NIH Clinical Center for Usher Syndrome, Type 2d

Genetic Tests for Usher Syndrome, Type 2d

Genetic tests related to Usher Syndrome, Type 2d:

id Genetic test Affiliating Genes
1 Usher Syndrome, Type 2d 29
2 Usher Syndrome Type 2d 24 WHRN

Anatomical Context for Usher Syndrome, Type 2d

MalaCards organs/tissues related to Usher Syndrome, Type 2d:

39
Bone, Retina

Publications for Usher Syndrome, Type 2d

Variations for Usher Syndrome, Type 2d

ClinVar genetic disease variations for Usher Syndrome, Type 2d:

6
id 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 DFNB31, IVS2DS, G-A, +1 single nucleotide variant Pathogenic
3 WHRN DFNB31, 1-BP DEL, 737C deletion Pathogenic
4 WHRN DFNB31, 1-BP DUP, 680G insertion Pathogenic
5 WHRN NM_015404.3(WHRN): c.1267C> T (p.Arg423Ter) single nucleotide variant Pathogenic rs397517255 GRCh38 Chromosome 9, 114424483: 114424483
6 WHRN NM_015404.3(WHRN): c.643delG (p.Val215Cysfs) deletion Pathogenic rs397517258 GRCh37 Chromosome 9, 117241027: 117241027

Expression for Usher Syndrome, Type 2d

Search GEO for disease gene expression data for Usher Syndrome, Type 2d.

Pathways for Usher Syndrome, Type 2d

GO Terms for Usher Syndrome, Type 2d

Cellular components related to Usher Syndrome, Type 2d according to GeneCards Suite gene sharing:

(show all 12)
id Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.91 PDZD7 RPGR USH1C USH2A WHRN
2 ciliary basal body GO:0036064 9.78 RPGR USH1G USH2A WHRN
3 photoreceptor connecting cilium GO:0032391 9.67 MYO7A USH1G USH2A WHRN
4 photoreceptor disc membrane GO:0097381 9.61 GRK1 GRK7 RHO
5 stereocilium bundle GO:0032421 9.58 PCDH15 USH2A WHRN
6 photoreceptor outer segment GO:0001750 9.55 MYO7A PCDH15 RHO RPGR USH1C
7 stereocilia ankle link GO:0002141 9.5 PDZD7 USH2A WHRN
8 periciliary membrane compartment GO:1990075 9.49 USH2A WHRN
9 stereocilia ankle link complex GO:0002142 9.46 USH2A WHRN
10 USH2 complex GO:1990696 9.43 PDZD7 USH2A WHRN
11 photoreceptor inner segment GO:0001917 9.43 MYO7A RHO USH1C USH1G USH2A WHRN
12 stereocilium GO:0032420 9.1 ADGRV1 CDH23 MYO7A PCDH15 USH1C WHRN

Biological processes related to Usher Syndrome, Type 2d according to GeneCards Suite gene sharing:

(show all 17)
id Name GO ID Score Top Affiliating Genes
1 inner ear receptor stereocilium organization GO:0060122 9.85 CDH23 MYO7A PCDH15 USH1C USH1G WHRN
2 sensory perception of sound GO:0007605 9.81 ADGRV1 CACNA1D CDH23 MYO7A PCDH15 USH1C
3 photoreceptor cell maintenance GO:0045494 9.8 ADGRV1 CDH23 PCDH15 RHO USH1C USH1G
4 locomotory behavior GO:0007626 9.73 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 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 9.57 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 2d according to GeneCards Suite gene sharing:

id 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 2d

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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