MCID: USH019
MIFTS: 20

Usher Syndrome, Type 1d/f Digenic malady

Genetic diseases (common) category
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Summaries for Usher Syndrome, Type 1d/f Digenic

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MalaCards based summary: 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:46 601067

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

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Usher Syndrome, Type 1d/f Digenic, Aliases & Descriptions:

Name: Usher Syndrome, Type 1d/f Digenic 46


Classifications:

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


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

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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 i9.9CDH23, PCDH15
2rhyns syndrome9.9CDH23, PCDH15
3usher syndrome9.8PCDH15, CDH23
4nonsyndromic deafness9.8CDH23, PCDH15

Symptoms for Usher Syndrome, Type 1d/f Digenic

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Clinical features from OMIM:

601067

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

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Drug clinical trials:

Search ClinicalTrials for Usher Syndrome, Type 1d/f Digenic

Search NIH Clinical Center for Usher Syndrome, Type 1d/f Digenic

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

36
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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UniProtKB/Swiss-Prot genetic disease variations for Usher Syndrome, Type 1d/f Digenic:

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/f Digenic:

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/f Digenic

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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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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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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