MCID: USH008
MIFTS: 39

Usher Syndrome, Type 1d malady

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

Aliases & Classifications for Usher Syndrome, Type 1d

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Aliases & Descriptions for Usher Syndrome, Type 1d:

Name: Usher Syndrome, Type 1d 50 46 12
Ush1d 46 23 68
Usher's Syndrome Type 1d 68 25
Usher's Syndrome Type 1h 68 25
Usher Syndrome, Type 1d/f Digenic 50
Usher Syndrome, Type Id 66
Usher Syndrome, Type 1h 12
Usher Syndrome Type Id 68
 
Usher Syndrome Type Ih 68
Usher Syndrome Type 1d 23
Usher Syndrome 1d/f 68
Usher Syndrome 1d 68
Usher Syndrome 1h 68
Ush1d/f 68
Ush1df 68

Characteristics:

HPO:

62
usher syndrome, type 1d:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 601067
MeSH37 D052245

Summaries for Usher Syndrome, Type 1d

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OMIM:50 Usher syndrome type I is an autosomal recessive condition characterized by profound congenital hearing impairment with... (601067) more...

MalaCards based summary: Usher Syndrome, Type 1d, also known as ush1d, is related to usher syndrome type 1h and usher syndrome, and has symptoms including hearing impairment, rod-cone dystrophy and vestibular dysfunction. An important gene associated with Usher Syndrome, Type 1d is CDH23 (Cadherin Related 23). Related mouse phenotypes are hearing/vestibular/ear and vision/eye.

NIH Rare Diseases:46 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

UniProtKB/Swiss-Prot:68 Usher syndrome 1D: USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with 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). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness. Usher syndrome 1D/F: USH1DF patients are heterozygous for mutations in CDH23 and PCDH15, indicating a digenic inheritance pattern.

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 hearing impairment HP:0000365
2 rod-cone dystrophy HP:0000510
3 vestibular dysfunction HP:0001751

Drugs & Therapeutics for Usher Syndrome, Type 1d

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Usher Syndrome, Type 1d

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 1d25
2 Usher Syndrome, Type 1h25
3 Usher Syndrome Type 1d23 CDH23

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:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.6CDH23, PCDH15, USH1C
2MP:00053918.5CDH23, 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:

68 (show all 26)
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.Ser3245PheVAR_024034
8CDH23p.Glu247LysVAR_027318
9CDH23p.Ala484ProVAR_027321
10CDH23p.Pro1206ArgVAR_027325
11CDH23p.Gly2017SerVAR_027334
12CDH23p.Ser2517GlyVAR_027340
13CDH23p.Gly2744SerVAR_027342
14CDH23p.Arg2833GlyVAR_027343
15CDH23p.Arg3175HisVAR_027347
16CDH23p.His755TyrVAR_046407
17CDH23p.Val1090IleVAR_046410
18CDH23p.Asn1098SerVAR_046411rs41281310
19CDH23p.Pro1788LeuVAR_046419
20CDH23p.Arg1912TrpVAR_046423
21CDH23p.Asp1930AsnVAR_046424
22CDH23p.Asp2376ValVAR_046429
23CDH23p.Thr2530IleVAR_046432
24CDH23p.Gly2771SerVAR_046434
25CDH23p.Val2968AlaVAR_046437
26PCDH15p.Asp178GlyVAR_069297

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

5 (show all 42)
id Gene Variation Type Significance SNP ID Assembly Location
1CDH23NM_022124.5(CDH23): c.945+1G> Tsingle nucleotide variantPathogenicrs727502919GRCh37Chr 10, 73375374: 73375374
2CDH23NM_022124.5(CDH23): c.7873-2A> Tsingle nucleotide variantPathogenicrs727502933GRCh37Chr 10, 73565561: 73565561
3NM_022124.5(CDH23): c.4209+1G> Tsingle nucleotide variantPathogenicrs727503841GRCh37Chr 10, 73494416: 73494416
4CDH23NM_022124.5(CDH23): c.1369C> T (p.Arg457Trp)single nucleotide variantLikely pathogenicrs727504455GRCh38Chr 10, 71646537: 71646537
5CDH23NM_022124.5(CDH23): c.7979_7986delACTGGGAG (p.Asp2660Valfs)deletionPathogenicrs727504761GRCh38Chr 10, 71805912: 71805919
6NC_000010.11: g.(?_71731987)_(71734281_?)deldeletionPathogenicGRCh38Chr 10, 71731987: 71734281
7NM_022124.5(CDH23): c.146-2A> Gsingle nucleotide variantPathogenicrs794727649GRCh37Chr 10, 73269837: 73269837
8PCDH15NM_001142763.1(PCDH15): c.2986C> T (p.Arg996Ter)single nucleotide variantPathogenicrs754391973GRCh37Chr 10, 55721550: 55721550
9PCDH15NM_001142763.1: c.-189197_c.610-5166deldeletionLikely pathogenic
10CDH23NM_022124.5(CDH23): c.2701G> A (p.Glu901Lys)single nucleotide variantLikely pathogenicrs876657636GRCh38Chr 10, 71702662: 71702662
11CDH23NM_052836.3(CDH23): c.1450G> T (p.Val484Leu)single nucleotide variantPathogenicrs876657680GRCh37Chr 10, 73406375: 73406375
12CDH23NM_022124.5(CDH23): c.1949dupC (p.Leu651Serfs)duplicationPathogenicrs876657681GRCh37Chr 10, 73442292: 73442292
13CDH23NM_022124.5(CDH23): c.7483-1G> Csingle nucleotide variantPathogenicrs876657682GRCh38Chr 10, 71802897: 71802897
14CDH23NM_022124.5(CDH23): c.9556C> T (p.Arg3186Ter)single nucleotide variantPathogenicrs773464867GRCh37Chr 10, 73572570: 73572570
15CDH23NM_022124.5(CDH23): c.2012delT (p.Phe671Serfs)deletionPathogenicrs397517313GRCh37Chr 10, 73447429: 73447429
16NM_022124.5(CDH23): c.3481C> T (p.Arg1161Ter)single nucleotide variantPathogenicrs397517323GRCh37Chr 10, 73485179: 73485179
17NM_022124.5(CDH23): c.3628C> T (p.Gln1210Ter)single nucleotide variantPathogenicrs397517326GRCh37Chr 10, 73490274: 73490274
18NM_022124.5(CDH23): c.3706C> T (p.Arg1236Ter)single nucleotide variantPathogenicrs397517327GRCh37Chr 10, 73490352: 73490352
19CDH23NM_022124.5(CDH23): c.4309C> T (p.Arg1437Ter)single nucleotide variantPathogenicrs397517329GRCh37Chr 10, 73498354: 73498354
20CDH23NM_022124.5(CDH23): c.46delG (p.Val16Cysfs)deletionPathogenicrs397517331GRCh37Chr 10, 73199634: 73199634
21CDH23NM_022124.5(CDH23): c.5272C> T (p.Gln1758Ter)single nucleotide variantPathogenicrs397517337GRCh37Chr 10, 73539108: 73539108
22CDH23NM_022124.5(CDH23): c.5712+1G> Asingle nucleotide variantPathogenicrs397517341GRCh37Chr 10, 73544858: 73544858
23CDH23NM_022124.5(CDH23): c.5712G> A (p.Thr1904=)single nucleotide variantPathogenicrs397517342GRCh37Chr 10, 73544857: 73544857
24CDH23NM_022124.5(CDH23): c.5923+1G> Asingle nucleotide variantPathogenicrs397517346GRCh37Chr 10, 73548800: 73548800
25CDH23NM_022124.5(CDH23): c.6049+1G> Asingle nucleotide variantPathogenicrs111033247GRCh37Chr 10, 73550171: 73550171
26CDH23NM_022124.5(CDH23): c.6049G> A (p.Gly2017Ser)single nucleotide variantLikely pathogenicrs183431253GRCh37Chr 10, 73550170: 73550170
27CDH23NM_022124.5(CDH23): c.6050-9G> Asingle nucleotide variantPathogenicrs367928692GRCh37Chr 10, 73550880: 73550880
28CDH23NM_022124.5(CDH23): c.6412delG (p.Glu2138Serfs)deletionLikely pathogenicrs111033473GRCh37Chr 10, 73553097: 73553097
29CDH23NM_022124.5(CDH23): c.6968delC (p.Pro2323Leufs)deletionPathogenicrs397517350GRCh37Chr 10, 73558249: 73558249
30CDH23NM_022124.5(CDH23): c.7362G> A (p.Thr2454=)single nucleotide variantLikely pathogenicrs370983472GRCh37Chr 10, 73559386: 73559386
31CDH23NM_022124.5(CDH23): c.7776G> A (p.Trp2592Ter)single nucleotide variantPathogenicrs397517353GRCh37Chr 10, 73563081: 73563081
32CDH23NM_022124.5(CDH23): c.7921G> C (p.Asp2641His)single nucleotide variantLikely pathogenicrs397517354GRCh37Chr 10, 73565611: 73565611
33CDH23NM_022124.5(CDH23): c.8781C> A (p.Tyr2927Ter)single nucleotide variantPathogenicrs397517362GRCh37Chr 10, 73569635: 73569635
34CDH23NM_022124.5(CDH23): c.9629_9632delTCAA (p.Ile3210Argfs)deletionPathogenicrs397517367GRCh37Chr 10, 73572643: 73572646
35CDH23NM_022124.5(CDH23): c.4488G> C (p.Gln1496His)single nucleotide variantPathogenicrs121908347GRCh37Chr 10, 73499529: 73499529
36CDH23NM_022124.5(CDH23): c.5237G> A (p.Arg1746Gln)single nucleotide variantPathogenicrs111033270GRCh37Chr 10, 73539073: 73539073
37NM_022124.5(CDH23): c.3842_3844delTGA (p.Met1281del)deletionPathogenicrs796051860GRCh37Chr 10, 73491870: 73491872
38CDH23NM_022124.5(CDH23): c.7362+5G> Asingle nucleotide variantPathogenicrs727502931GRCh37Chr 10, 73559391: 73559391
39NM_022124.5(CDH23): c.3880C> T (p.Gln1294Ter)single nucleotide variantPathogenicrs121908350GRCh37Chr 10, 73491908: 73491908
40NM_022124.5(CDH23): c.193delC (p.Leu65Trpfs)deletionPathogenicrs796051861GRCh37Chr 10, 73269886: 73269886
41CDH23NM_022124.5(CDH23): c.9565C> T (p.Arg3189Trp)single nucleotide variantPathogenicrs121908353GRCh37Chr 10, 73572579: 73572579
42PCDH15PCDH15, 3-BP DEL, 5601AACdeletionPathogenic

Expression for genes affiliated with Usher Syndrome, Type 1d

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Search GEO for disease gene expression data for Usher Syndrome, Type 1d.

Pathways 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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1photoreceptor outer segmentGO:00017509.5PCDH15, USH1C
2synapseGO:00452029.1PCDH15, USH1C
3stereociliumGO:00324208.6CDH23, PCDH15, USH1C

Biological processes related to Usher Syndrome, Type 1d according to GeneCards Suite gene sharing:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1inner ear receptor stereocilium organizationGO:00601229.4CDH23, PCDH15
2homophilic cell adhesion via plasma membrane adhesion moleculesGO:00071569.1CDH23, PCDH15
3locomotory behaviorGO:00076269.0CDH23, PCDH15
4sensory perception of light stimulusGO:00509539.0CDH23, PCDH15, USH1C
5equilibrioceptionGO:00509579.0CDH23, PCDH15, USH1C
6visual perceptionGO:00076018.9CDH23, PCDH15
7sensory perception of soundGO:00076058.8CDH23, PCDH15, USH1C
8photoreceptor cell maintenanceGO:00454948.2CDH23, PCDH15, USH1C

Sources for Usher Syndrome, Type 1d

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet