MCID: USH008
MIFTS: 32

Usher Syndrome, Type 1d malady

Summaries for Usher Syndrome, Type 1d

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42NIH Rare Diseases, 46OMIM, 32MalaCards
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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: Usher Syndrome, Type 1d, also known as usher syndrome, type id, is related to usher syndrome and usher syndrome, type 1b. An important gene associated with Usher Syndrome, Type 1d is CDH23 (cadherin-related 23). Related mouse phenotypes are hearing/vestibular/ear and nervous system.

Description from OMIM:46 601067

Aliases & Classifications for Usher Syndrome, Type 1d

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42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 60UMLS
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Aliases & Descriptions:

usher syndrome, type 1d 42 20 22 46
usher syndrome, type id 60
ush1d 42


Related Diseases for Usher Syndrome, Type 1d

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Usher Syndrome, Type 1d:



Diseases related to usher syndrome, type 1d

Clinical Features for Usher Syndrome, Type 1d

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46OMIM
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Clinical features from OMIM:

601067

Clinical synopsis from OMIM:

601067

Drugs & Therapeutics for Usher Syndrome, Type 1d

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Usher Syndrome, Type 1d

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20GeneTests, 22GTR
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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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36MGI
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MGI Mouse Phenotypes related to Usher Syndrome, Type 1d:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.5PCDH15, CDH23, USH1C
2MP:00036318.5PCDH15, CDH23, USH1C
3MP:00053918.4PCDH15, CDH23, USH1C
4MP:00053868.2USH1C, CDH23, PCDH15

Publications for Usher Syndrome, Type 1d

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Genetic Variations for Usher Syndrome, Type 1d

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Usher Syndrome, Type 1d:

62 (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

Expression for genes affiliated with Usher Syndrome, Type 1d

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1BioGPS, 15Gene Expression Omnibus DataSets
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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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16Gene Ontology
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Cellular components related to Usher Syndrome, Type 1d according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1synapseGO:0452029.1PCDH15, USH1C
2photoreceptor outer segmentGO:0017508.8PCDH15, USH1C
3stereociliumGO:0324208.4PCDH15, CDH23, USH1C

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

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

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet