MCID: USH019
MIFTS: 20

Usher Syndrome, Type 1d/f Digenic malady

Genetic diseases (common) category

Summaries for Usher Syndrome, Type 1d/f Digenic

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48OMIM, 34MalaCards
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MalaCards: Usher Syndrome, Type 1d/f Digenic is related to usher syndrome type i and rhyns syndrome. An important gene associated with Usher Syndrome, Type 1d/f Digenic is CDH23 (cadherin-related 23). Related mouse phenotypes are vision/eye and hearing/vestibular/ear.

Description from OMIM:48 601067

Aliases & Classifications for Usher Syndrome, Type 1d/f Digenic

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48OMIM
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Aliases & Descriptions:

usher syndrome, type 1d/f digenic 48


Related Diseases for Usher Syndrome, Type 1d/f Digenic

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18GeneCards, 19GeneDecks
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Diseases related to Usher Syndrome, Type 1d/f Digenic via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1usher syndrome type i10.0CDH23, PCDH15
2rhyns syndrome10.0CDH23, PCDH15
3usher syndrome10.0PCDH15, CDH23
4nonsyndromic deafness9.9CDH23, PCDH15

Symptoms for Usher Syndrome, Type 1d/f Digenic

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48OMIM
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Clinical features from OMIM:

601067

Drugs & Therapeutics for Usher Syndrome, Type 1d/f Digenic

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Usher Syndrome, Type 1d/f Digenic

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Anatomical Context for Usher Syndrome, Type 1d/f Digenic

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

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38MGI
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MGI Mouse Phenotypes related to Usher Syndrome, Type 1d/f Digenic:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053919.1CDH23, PCDH15
2MP:00053778.8CDH23, PCDH15

Publications for Usher Syndrome, Type 1d/f Digenic

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Variations for Usher Syndrome, Type 1d/f Digenic

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Usher Syndrome, Type 1d/f Digenic:

65 (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/f Digenic:

1
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/f Digenic

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Usher Syndrome, Type 1d/f Digenic

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Pathways for genes affiliated with Usher Syndrome, Type 1d/f Digenic

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Compounds for genes affiliated with Usher Syndrome, Type 1d/f Digenic

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

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17Gene Ontology
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Cellular components related to Usher Syndrome, Type 1d/f Digenic according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1stereociliumGO:0324209.1CDH23, PCDH15

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

idNameGO IDScoreTop Affiliating Genes
1equilibrioceptionGO:0509579.2CDH23, PCDH15
2sensory perception of light stimulusGO:0509539.1CDH23, PCDH15
3homophilic cell adhesionGO:0071569.1CDH23, PCDH15
4photoreceptor cell maintenanceGO:0454949.0PCDH15, CDH23
5sensory perception of soundGO:0076058.8CDH23, PCDH15

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

idNameGO IDScoreTop Affiliating Genes
1calcium ion bindingGO:0055099.1CDH23, PCDH15

Products for genes affiliated with Usher Syndrome, Type 1d/f Digenic

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  • Antibodies
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Sources for Usher Syndrome, Type 1d/f Digenic

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet