MCID: USH008
MIFTS: 39

Usher Syndrome, Type 1d malady

Genetic diseases, Rare diseases, Eye diseases, Ear diseases, Fetal diseases categories
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Summaries for Usher Syndrome, Type 1d

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NIH Rare Diseases:42 Usher syndrome is a genetic condition characterized by hearing loss or deafness, and progressive vision loss due to retinitis pigmentosa. three major types of usher syndrome have been described - types i, ii, and iii.  the different types are distinguished by their severity and the age when signs and symptoms appear. all three types are inherited in an autosomal recessive manner, which means both copies of the disease-causing gene in each cell have mutations. last updated: 3/3/2014

MalaCards based summary: Usher Syndrome, Type 1d, also known as usher syndrome, type id, is related to usher syndrome and usher syndrome, type 1b, and has symptoms including An important gene associated with Usher Syndrome, Type 1d is CDH23 (cadherin-related 23). Related mouse phenotypes are adipose tissue and hearing/vestibular/ear.

Description from OMIM:46 601067

Aliases & Classifications for Usher Syndrome, Type 1d

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Usher Syndrome, Type 1d, Aliases & Descriptions:

Name: Usher Syndrome, Type 1d 42 20 22 46
Usher Syndrome, Type Id 62
 
Ush1d 42


Classifications:



Related Diseases for Usher Syndrome, Type 1d

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Graphical network of diseases related to Usher Syndrome, Type 1d:



Diseases related to usher syndrome, type 1d

Symptoms for Usher Syndrome, Type 1d

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Symptoms by clinical synopsis from OMIM:

601067

Clinical features from OMIM:

601067

HPO human phenotypes related to Usher Syndrome, Type 1d:

id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 hearing impairment HP:0000365
3 retinitis pigmentosa HP:0000510
4 vestibular dysfunction HP:0001751

Drugs & Therapeutics for Usher Syndrome, Type 1d

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Drug clinical trials:

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Genetic Tests for Usher Syndrome, Type 1d

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Genetic tests related to Usher Syndrome, Type 1d:

id Genetic test Affiliating Genes
1 Usher Syndrome Type 1d20 CDH23
2 Usher Syndrome, Type 1d22

Anatomical Context for Usher Syndrome, Type 1d

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Animal Models for Usher Syndrome, Type 1d or affiliated genes

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MGI Mouse Phenotypes related to Usher Syndrome, Type 1d:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053759.3CDH23, USH1C
2MP:00053778.6CDH23, PCDH15, USH1C
3MP:00053918.6CDH23, PCDH15, USH1C
4MP:00053868.5USH1C, PCDH15, CDH23
5MP:00036318.4CDH23, PCDH15, USH1C
6MP:00053788.2CDH23, PCDH15, USH1C

Publications for Usher Syndrome, Type 1d

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Articles related to Usher Syndrome, Type 1d:

idTitleAuthorsYear
1
Expression of cadherin 23 isoforms is not conserved: implications for a mouse model of Usher syndrome type 1D. (19756182)
2009
2
Clinical presentation of DFNB12 and Usher syndrome type 1D. (12408077)
2002
3
Identification and in vitro expression of novel CDH23 mutations of patients with Usher syndrome type 1D. (11857743)
2002
4
Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D. (11138008)
2001
5
Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D. (11138009)
2001

Variations for Usher Syndrome, Type 1d

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UniProtKB/Swiss-Prot genetic disease variations for Usher Syndrome, Type 1d:

64 (show all 27)
id Symbol AA change Variation ID SNP ID
1CDH23p.Gln1496HisVAR_012174
2CDH23p.Arg1746GlnVAR_012178
3CDH23p.Ala366ThrVAR_024030rs143282422
4CDH23p.Thr1209AlaVAR_024031rs41281314
5CDH23p.Arg1507GlnVAR_024032
6CDH23p.Arg3189TrpVAR_024033
7CDH23p.Arg3189TrpVAR_024033
8CDH23p.Ser3245PheVAR_024034
9CDH23p.Glu247LysVAR_027318
10CDH23p.Ala484ProVAR_027321
11CDH23p.Pro1206ArgVAR_027325
12CDH23p.Gly2017SerVAR_027334
13CDH23p.Ser2517GlyVAR_027340
14CDH23p.Gly2744SerVAR_027342
15CDH23p.Arg2833GlyVAR_027343
16CDH23p.Arg3175HisVAR_027347
17CDH23p.His755TyrVAR_046407
18CDH23p.Val1090IleVAR_046410
19CDH23p.Asn1098SerVAR_046411rs41281310
20CDH23p.Pro1788LeuVAR_046419
21CDH23p.Arg1912TrpVAR_046423
22CDH23p.Asp1930AsnVAR_046424
23CDH23p.Asp2376ValVAR_046429
24CDH23p.Thr2530IleVAR_046432
25CDH23p.Gly2771SerVAR_046434
26CDH23p.Val2968AlaVAR_046437
27PCDH15p.Asp178GlyVAR_069297

Clinvar genetic disease variations for Usher Syndrome, Type 1d:

6
id Gene Name Type Significance SNP ID Assembly Location
1CDH23NM_022124.5(CDH23): c.4488G> C (p.Gln1496His)single nucleotide variantPathogenicrs121908347GRCh37Chr 10, 73499529: 73499529
2CDH23NM_022124.5(CDH23): c.5237G> A (p.Arg1746Gln)single nucleotide variantPathogenicrs111033270GRCh37Chr 10, 73539073: 73539073
3CDH23CDH23, 3-BP DEL, 3841ATGdeletionPathogenic
4CDH23CDH23, IVS51, G-A, +5single nucleotide variantPathogenic
5NM_022124.5(CDH23): c.3880C> T (p.Gln1294Ter)single nucleotide variantPathogenicrs121908350GRCh37Chr 10, 73491908: 73491908
6CDH23CDH23, 1-BP DEL, 193CdeletionPathogenic

Expression for genes affiliated with Usher Syndrome, Type 1d

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Expression patterns in normal tissues for genes affiliated with Usher Syndrome, Type 1d

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Pathways for genes affiliated with Usher Syndrome, Type 1d

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Compounds for genes affiliated with Usher Syndrome, Type 1d

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GO Terms for genes affiliated with Usher Syndrome, Type 1d

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Cellular components related to Usher Syndrome, Type 1d according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1photoreceptor outer segmentGO:0017509.0PCDH15, USH1C
2synapseGO:0452028.8USH1C, PCDH15
3stereociliumGO:0324208.5CDH23, PCDH15, USH1C
4plasma membraneGO:0058868.5CDH23, PCDH15, USH1C

Biological processes related to Usher Syndrome, Type 1d according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1homophilic cell adhesionGO:0071569.0CDH23, PCDH15
2equilibrioceptionGO:0509578.6CDH23, PCDH15, USH1C
3sensory perception of light stimulusGO:0509538.5CDH23, PCDH15, USH1C
4photoreceptor cell maintenanceGO:0454948.4USH1C, PCDH15, CDH23
5sensory perception of soundGO:0076058.2CDH23, PCDH15, USH1C

Molecular functions related to Usher Syndrome, Type 1d according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1calcium ion bindingGO:0055099.0CDH23, PCDH15

Products for genes affiliated with Usher Syndrome, Type 1d

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Sources for Usher Syndrome, Type 1d

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet