USH2D
MCID: USH034
MIFTS: 39

Usher Syndrome, Type 2d (USH2D) malady

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

Aliases & Classifications for Usher Syndrome, Type 2d

Aliases & Descriptions for Usher Syndrome, Type 2d:

Name: Usher Syndrome, Type 2d 54 13
Usher Syndrome Type 2d 12 24 14
Ush2d 12 24 66
Usher Syndrome 2d 66 29
Usher Syndrome Type Iid 12
Usher Syndrome, Type Ii 69

Characteristics:

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... (611383) more...

MalaCards based summary : Usher Syndrome, Type 2d, also known as usher syndrome type 2d, is related to usher syndrome, type 2a and rhizomelic chondrodysplasia punctata type 5, and has symptoms including hearing impairment and rod-cone dystrophy. 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. Related phenotypes are behavior/neurological and cellular

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 : 66 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 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 36)
id Related Disease Score Top Affiliating Genes
1 usher syndrome, type 2a 10.9
2 rhizomelic chondrodysplasia punctata type 5 10.2 ADGRV1 MYO7A
3 autosomal dominant nonsyndromic deafness 68 10.2 USH1C USH1G
4 manitoba oculotrichoanal syndrome 10.2 CDH23 MYO7A
5 robinow syndrome, autosomal dominant 1 10.2 ADGRV1 MYO7A USH2A
6 sjogren-larsson syndrome 10.1 CDH23 MYO7A
7 retinitis pigmentosa 39 10.1 PDZD7 USH1C USH2A WHRN
8 branchial cleft anomalies branchial cysts, included 10.1 RHO USH2A
9 charcot-marie-tooth disease, type 1d 10.1 CDH23 MYO7A PCDH15
10 cardiomyopathy, dilated, 1kk 10.1 MYO7A PCDH15 USH1C USH1G
11 fanconi anemia, complementation group f 10.1 CDH23 MYO7A USH1C USH1G
12 tay-sachs disease 10.0 GRK1 GRK7
13 deafness, autosomal recessive 23 10.0 CDH23 MYO7A PCDH15 USH1C
14 obesity susceptibility, adrb3-related 10.0 CDH23 MYO7A USH1C USH2A
15 narcissistic personality disorder 10.0 CDH23 MYO7A PCDH15 USH1C
16 die smulders droog van dijk syndrome 10.0 MYO7A PCDH15
17 bullous pemphigoid 10.0 GRK1 RHO
18 hypertrichotic osteochondrodysplasia 10.0 RHO RPGR
19 pierre robin syndrome 10.0 CDH23 MYO7A PCDH15 USH1C USH1G
20 tendinosis 9.9 MYO7A RHO RPGR
21 mitochondrial non-syndromic sensorineural deafness 9.9 CDH23 MYO7A PCDH15 USH1C WHRN
22 x-linked nonsyndromic deafness 9.9 CDH23 MYO7A PCDH15 USH2A WHRN
23 trichomoniasis 9.9 CDH23 MYO7A PCDH15 USH1C USH2A
24 puerperal pulmonary embolism 9.9 MYO7A RHO RPGR USH2A
25 polyhydramnios 9.9 MYO7A RHO RPGR USH1C
26 usher syndrome, type 1f 9.8 ADGRV1 CDH23 MYO7A PCDH15 USH1C USH1G
27 dyskeratosis congenita, autosomal dominant 1 9.8 ADGRV1 CDH23 MYO7A PCDH15 USH1C USH1G
28 adult liposarcoma 9.7 MYO7A PCDH15 PDZD7 RHO RPGR USH2A
29 deafness, autosomal dominant 11 9.7 ADGRV1 CDH23 MYO7A PCDH15 USH1C USH1G
30 lissencephaly 9.6 ADGRV1 CDH23 MYO7A PCDH15 PDZD7 USH1C
31 charcot-marie-tooth disease intermediate type 9.6 CACNA1D GRK1 GRK7 RHO RPGR
32 liver cirrhosis 9.5 GRK1 GRK7 MYO7A RHO RPGR USH2A
33 peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads 9.4 ADGRV1 CDH23 MYO7A OPA1 PCDH15 PDZD7
34 xeroderma pigmentosum group e 9.4 ADGRV1 CDH23 MYO7A OPA1 PCDH15 PDZD7
35 sertoli cell-only syndrome 9.1 ADGRV1 CDH23 GRK1 MYO7A PCDH15 PDZD7
36 46xy sex reversal 3 8.0 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 by clinical synopsis from OMIM:

611383

Clinical features from OMIM:

611383

Human phenotypes related to Usher Syndrome, Type 2d:

32
id 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 2d:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.02 CACNA1D CDH23 HPGDS MYO7A OPA1 PCDH15
2 cellular MP:0005384 9.96 PDZD7 RHO USH1G CACNA1D CDH23 GRK1
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 CDH23 GRK1 MYO7A OPA1 PCDH15 PDZD7

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

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 GRCh37 Chromosome 9, 117186763: 117186763
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 USH2 complex GO:1990696 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 stereocilia ankle link GO:0002141 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 9.63 HPGDS MYO7A PDZD7 USH1G USH2A WHRN
2 G-protein coupled receptor kinase activity GO:0004703 9.26 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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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