USH1D
MCID: USH008
MIFTS: 42

Usher Syndrome, Type 1d (USH1D) malady

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

Aliases & Classifications for Usher Syndrome, Type 1d

Aliases & Descriptions for Usher Syndrome, Type 1d:

Name: Usher Syndrome, Type 1d 54 50 13
Ush1d 12 50 24 66
Usher Syndrome Type 1d 12 24 14
Usher's Syndrome Type 1d 66 29
Usher's Syndrome Type 1h 66 29
Usher Syndrome Type Id 12 66
Usher Syndrome, Type 1d/f Digenic 54
Usher Syndrome, Type 1h 13
Usher Syndrome, Type Id 69
Usher Syndrome Type Ih 66
Usher Syndrome 1d/f 66
Usher Syndrome 1d 66
Usher Syndrome 1h 66
Ush1d/f 66
Ush1df 66

Characteristics:

HPO:

32
usher syndrome, type 1d:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 601067
Disease Ontology 12 DOID:0110831
ICD10 33 H35.5
MeSH 42 D052245

Summaries for Usher Syndrome, Type 1d

OMIM : 54 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, type 1b, 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 phenotypes are behavior/neurological and hearing/vestibular/ear

Disease Ontology : 12 An Usher syndrome type 1 that has material basis in homozygous or compound heterozygous mutation in the CDH23 gene on chromosome 10q22.

UniProtKB/Swiss-Prot : 66 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

Diseases in the Usher Syndrome family:

Usher Syndrome, Type 2a Usher Syndrome, Type 3a
Usher Syndrome, Type 2c Usher Syndrome Type 3b
Usher Syndrome, Type 2d Usher Syndrome, Type Ik
Usher Syndrome, Type 1d Usher Syndrome, Type 1f
Usher Syndrome, Type 1c Usher Syndrome, Type 1b
Usher Syndrome, Type Ij Usher Syndrome, Type 1g
Usher Syndrome Type 2 Usher Syndrome Type 1h
Usher Syndrome, Type 2b

Diseases related to Usher Syndrome, Type 1d via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 34)
id Related Disease Score Top Affiliating Genes
1 usher syndrome type 1h 11.2
2 usher syndrome, type 1b 10.9
3 usher syndrome 10.3
4 manitoba oculotrichoanal syndrome 10.1 CDH23 MYO7A
5 sjogren-larsson syndrome 10.1 CDH23 MYO7A
6 die smulders droog van dijk syndrome 10.1 MYO7A PCDH15
7 autosomal dominant nonsyndromic deafness 69 10.0 CDH23 MYO7A
8 cockayne syndrome 10.0 CDH23 MYO7A
9 autosomal dominant nonsyndromic deafness 68 10.0 USH1C USH1G
10 retinitis pigmentosa 39 10.0 USH1C USH2A
11 charcot-marie-tooth disease, type 1d 10.0 CDH23 MYO7A PCDH15
12 autosomal recessive nonsyndromic deafness 97 10.0 CDH23 MYO7A
13 rhizomelic chondrodysplasia punctata type 5 10.0 ADGRV1 MYO7A
14 deafness, autosomal recessive 23 9.9 CDH23 MYO7A PCDH15 USH1C
15 narcissistic personality disorder 9.9 CDH23 MYO7A PCDH15 USH1C
16 adult liposarcoma 9.9 MYO7A PCDH15 USH2A
17 mitochondrial non-syndromic sensorineural deafness 9.9 CDH23 MYO7A PCDH15 USH1C
18 fanconi anemia, complementation group f 9.8 CDH23 MYO7A USH1C USH1G
19 puerperal pulmonary embolism 9.8 CDHR1 MYO7A USH2A
20 fibrochondrogenesis 2 9.8 MYO7A USH2A
21 cardiomyopathy, dilated, 1kk 9.8 MYO7A PCDH15 USH1C USH1G
22 obesity susceptibility, adrb3-related 9.8 CDH23 MYO7A USH1C USH2A
23 x-linked nonsyndromic deafness 9.8 CDH23 MYO7A PCDH15 USH2A
24 robinow syndrome, autosomal dominant 1 9.7 ADGRV1 MYO7A USH2A
25 pierre robin syndrome 9.7 CDH23 MYO7A PCDH15 USH1C USH1G
26 trichomoniasis 9.6 CDH23 MYO7A PCDH15 USH1C USH2A
27 dyskeratosis congenita, autosomal dominant 1 9.1 ADGRV1 CDH23 MYO7A PCDH15 USH1C USH1G
28 peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads 9.1 ADGRV1 CDH23 MYO7A PCDH15 USH1C USH1G
29 46xy sex reversal 3 9.1 ADGRV1 CDH23 MYO7A PCDH15 USH1C USH1G
30 deafness, autosomal dominant 11 9.1 ADGRV1 CDH23 MYO7A PCDH15 USH1C USH1G
31 xeroderma pigmentosum group e 9.1 ADGRV1 CDH23 MYO7A PCDH15 USH1C USH1G
32 lissencephaly 9.1 ADGRV1 CDH23 MYO7A PCDH15 USH1C USH1G
33 usher syndrome, type 1f 8.9 ADGRV1 CDH23 CDHR1 MYO7A PCDH15 USH1C
34 sertoli cell-only syndrome 8.9 ADGRV1 CDH23 CDHR1 MYO7A PCDH15 USH1C

Graphical network of the top 20 diseases related to Usher Syndrome, Type 1d:



Diseases related to Usher Syndrome, Type 1d

Symptoms & Phenotypes for Usher Syndrome, Type 1d

Symptoms by clinical synopsis from OMIM:

601067

Clinical features from OMIM:

601067

Human phenotypes related to Usher Syndrome, Type 1d:

32
id Description HPO Frequency HPO Source Accession
1 hearing impairment 32 HP:0000365
2 rod-cone dystrophy 32 HP:0000510
3 vestibular dysfunction 32 HP:0001751

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

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.73 ADGRV1 CDH23 MYO7A PCDH15 USH1C USH1G
2 hearing/vestibular/ear MP:0005377 9.7 USH2A ADGRV1 CDH23 MYO7A PCDH15 USH1C
3 nervous system MP:0003631 9.5 ADGRV1 CDH23 MYO7A PCDH15 USH1C USH1G
4 vision/eye MP:0005391 9.23 ADGRV1 CDH23 CDHR1 MYO7A PCDH15 USH1C

Drugs & Therapeutics for Usher Syndrome, Type 1d

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

Genetic Tests for Usher Syndrome, Type 1d

Genetic tests related to Usher Syndrome, Type 1d:

id Genetic test Affiliating Genes
1 Usher Syndrome, Type 1d 29
2 Usher Syndrome, Type 1h 29
3 Usher Syndrome Type 1d 24 CDH23

Anatomical Context for Usher Syndrome, Type 1d

Publications for Usher Syndrome, Type 1d

Articles related to Usher Syndrome, Type 1d:

id Title Authors Year
1
Expression of cadherin 23 isoforms is not conserved: implications for a mouse model of Usher syndrome type 1D. ( 19756182 )
2009
2
Identification and in vitro expression of novel CDH23 mutations of patients with Usher syndrome type 1D. ( 11857743 )
2002
3
Clinical presentation of DFNB12 and Usher syndrome type 1D. ( 12408077 )
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

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

66 (show all 26)
id Symbol AA change Variation ID SNP ID
1 CDH23 p.Gln1496His VAR_012174
2 CDH23 p.Arg1746Gln VAR_012178
3 CDH23 p.Ala366Thr VAR_024030 rs143282422
4 CDH23 p.Thr1209Ala VAR_024031 rs41281314
5 CDH23 p.Arg1507Gln VAR_024032
6 CDH23 p.Arg3189Trp VAR_024033
7 CDH23 p.Ser3245Phe VAR_024034
8 CDH23 p.Glu247Lys VAR_027318
9 CDH23 p.Ala484Pro VAR_027321
10 CDH23 p.Pro1206Arg VAR_027325
11 CDH23 p.Gly2017Ser VAR_027334
12 CDH23 p.Ser2517Gly VAR_027340
13 CDH23 p.Gly2744Ser VAR_027342
14 CDH23 p.Arg2833Gly VAR_027343
15 CDH23 p.Arg3175His VAR_027347
16 CDH23 p.His755Tyr VAR_046407
17 CDH23 p.Val1090Ile VAR_046410
18 CDH23 p.Asn1098Ser VAR_046411 rs41281310
19 CDH23 p.Pro1788Leu VAR_046419
20 CDH23 p.Arg1912Trp VAR_046423
21 CDH23 p.Asp1930Asn VAR_046424
22 CDH23 p.Asp2376Val VAR_046429
23 CDH23 p.Thr2530Ile VAR_046432
24 CDH23 p.Gly2771Ser VAR_046434
25 CDH23 p.Val2968Ala VAR_046437
26 PCDH15 p.Asp178Gly VAR_069297

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

6 (show all 43)
id Gene Variation Type Significance SNP ID Assembly Location
1 CDH23 NM_022124.5(CDH23): c.4488G> C (p.Gln1496His) single nucleotide variant Pathogenic rs121908347 GRCh37 Chromosome 10, 73499529: 73499529
2 CDH23 NM_022124.5(CDH23): c.5237G> A (p.Arg1746Gln) single nucleotide variant Pathogenic rs111033270 GRCh37 Chromosome 10, 73539073: 73539073
3 CDH23 NM_022124.5(CDH23): c.3842_3844delTGA (p.Met1281del) deletion Pathogenic rs796051860 GRCh37 Chromosome 10, 73491870: 73491872
4 CDH23 NM_022124.5(CDH23): c.7362+5G> A single nucleotide variant Pathogenic rs727502931 GRCh37 Chromosome 10, 73559391: 73559391
5 CDH23 NM_022124.5(CDH23): c.3880C> T (p.Gln1294Ter) single nucleotide variant Pathogenic rs121908350 GRCh37 Chromosome 10, 73491908: 73491908
6 CDH23 NM_022124.5(CDH23): c.193delC (p.Leu65Trpfs) deletion Pathogenic rs796051861 GRCh37 Chromosome 10, 73269886: 73269886
7 PCDH15 NM_033056.3(PCDH15): c.733C> T (p.Arg245Ter) single nucleotide variant Pathogenic rs111033260 GRCh37 Chromosome 10, 56077174: 56077174
8 PCDH15 PCDH15, 3-BP DEL, 5601AAC deletion Pathogenic
9 PCDH15 PCDH15, 1-BP DEL, 16T deletion Pathogenic
10 CDH23 NM_022124.5(CDH23): c.2012delT (p.Phe671Serfs) deletion Pathogenic rs397517313 GRCh37 Chromosome 10, 73447429: 73447429
11 CDH23 NM_022124.5(CDH23): c.3481C> T (p.Arg1161Ter) single nucleotide variant Pathogenic rs397517323 GRCh37 Chromosome 10, 73485179: 73485179
12 CDH23 NM_022124.5(CDH23): c.3628C> T (p.Gln1210Ter) single nucleotide variant Pathogenic rs397517326 GRCh37 Chromosome 10, 73490274: 73490274
13 CDH23 NM_022124.5(CDH23): c.3706C> T (p.Arg1236Ter) single nucleotide variant Pathogenic rs397517327 GRCh37 Chromosome 10, 73490352: 73490352
14 CDH23 NM_022124.5(CDH23): c.4309C> T (p.Arg1437Ter) single nucleotide variant Pathogenic rs397517329 GRCh37 Chromosome 10, 73498354: 73498354
15 CDH23 NM_022124.5(CDH23): c.46delG (p.Val16Cysfs) deletion Pathogenic rs397517331 GRCh37 Chromosome 10, 73199634: 73199634
16 CDH23 NM_022124.5(CDH23): c.5272C> T (p.Gln1758Ter) single nucleotide variant Pathogenic rs397517337 GRCh37 Chromosome 10, 73539108: 73539108
17 CDH23 NM_022124.5(CDH23): c.5712+1G> A single nucleotide variant Pathogenic rs397517341 GRCh37 Chromosome 10, 73544858: 73544858
18 CDH23 NM_022124.5(CDH23): c.5712G> A (p.Thr1904=) single nucleotide variant Pathogenic rs397517342 GRCh37 Chromosome 10, 73544857: 73544857
19 CDH23 NM_022124.5(CDH23): c.5923+1G> A single nucleotide variant Pathogenic rs397517346 GRCh37 Chromosome 10, 73548800: 73548800
20 CDH23 NM_022124.5(CDH23): c.6049+1G> A single nucleotide variant Pathogenic rs111033247 GRCh37 Chromosome 10, 73550171: 73550171
21 CDH23 NM_022124.5(CDH23): c.6049G> A (p.Gly2017Ser) single nucleotide variant Likely pathogenic rs183431253 GRCh37 Chromosome 10, 73550170: 73550170
22 CDH23 NM_022124.5(CDH23): c.6050-9G> A single nucleotide variant Pathogenic rs367928692 GRCh37 Chromosome 10, 73550880: 73550880
23 CDH23 NM_022124.5(CDH23): c.6412delG (p.Glu2138Serfs) deletion Likely pathogenic rs111033473 GRCh37 Chromosome 10, 73553097: 73553097
24 CDH23 NM_022124.5(CDH23): c.6968delC (p.Pro2323Leufs) deletion Pathogenic rs397517350 GRCh37 Chromosome 10, 73558249: 73558249
25 CDH23 NM_022124.5(CDH23): c.7776G> A (p.Trp2592Ter) single nucleotide variant Pathogenic rs397517353 GRCh37 Chromosome 10, 73563081: 73563081
26 CDH23 NM_022124.5(CDH23): c.7921G> C (p.Asp2641His) single nucleotide variant Likely pathogenic rs397517354 GRCh37 Chromosome 10, 73565611: 73565611
27 CDH23 NM_022124.5(CDH23): c.8781C> A (p.Tyr2927Ter) single nucleotide variant Pathogenic rs397517362 GRCh37 Chromosome 10, 73569635: 73569635
28 CDH23 NM_022124.5(CDH23): c.9629_9632delTCAA (p.Ile3210Argfs) deletion Pathogenic rs397517367 GRCh37 Chromosome 10, 73572643: 73572646
29 CDH23 NM_022124.5(CDH23): c.945+1G> T single nucleotide variant Pathogenic rs727502919 GRCh37 Chromosome 10, 73375374: 73375374
30 CDH23 NC_000010.11: g.(?_71731987)_(71734281_?)del deletion Pathogenic GRCh38 Chromosome 10, 71731987: 71734281
31 CDH23 NM_022124.5(CDH23): c.1369C> T (p.Arg457Trp) single nucleotide variant Likely pathogenic rs727504455 GRCh37 Chromosome 10, 73406294: 73406294
32 CDH23 NM_022124.5(CDH23): c.7873-2A> T single nucleotide variant Pathogenic rs727502933 GRCh37 Chromosome 10, 73565561: 73565561
33 CDH23 NM_022124.5(CDH23): c.7979_7986delACTGGGAG (p.Asp2660Valfs) deletion Pathogenic rs727504761 GRCh37 Chromosome 10, 73565669: 73565676
34 CDH23 NM_022124.5(CDH23): c.4209+1G> T single nucleotide variant Pathogenic rs727503841 GRCh37 Chromosome 10, 73494416: 73494416
35 CDH23 NM_022124.5(CDH23): c.146-2A> G single nucleotide variant Pathogenic rs794727649 GRCh37 Chromosome 10, 73269837: 73269837
36 PCDH15 NM_001142763.1(PCDH15): c.2986C> T (p.Arg996Ter) single nucleotide variant Pathogenic rs754391973 GRCh37 Chromosome 10, 55721550: 55721550
37 PCDH15 NM_001142763.1: c.-189197_c.610-5166del deletion Likely pathogenic
38 CDH23 NM_052836.3(CDH23): c.1450G> T (p.Val484Leu) single nucleotide variant Pathogenic rs876657680 GRCh37 Chromosome 10, 73406375: 73406375
39 CDH23 NM_022124.5(CDH23): c.1949dupC (p.Leu651Serfs) duplication Pathogenic rs876657681 GRCh38 Chromosome 10, 71682535: 71682535
40 CDH23 NM_022124.5(CDH23): c.2701G> A (p.Glu901Lys) single nucleotide variant Likely pathogenic rs876657636 GRCh38 Chromosome 10, 71702662: 71702662
41 CDH23 NM_022124.5(CDH23): c.7483-1G> C single nucleotide variant Pathogenic rs876657682 GRCh38 Chromosome 10, 71802897: 71802897
42 CDH23 NM_022124.5(CDH23): c.9556C> T (p.Arg3186Ter) single nucleotide variant Pathogenic rs773464867 GRCh37 Chromosome 10, 73572570: 73572570
43 CDH23 NM_022124.5(CDH23): c.1987-1G> A single nucleotide variant Pathogenic rs1060499714 GRCh37 Chromosome 10, 73447403: 73447403

Expression for Usher Syndrome, Type 1d

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

Pathways for Usher Syndrome, Type 1d

GO Terms for Usher Syndrome, Type 1d

Cellular components related to Usher Syndrome, Type 1d according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.95 ADGRV1 CDH23 CDHR1 PCDH15 USH1C USH1G
2 synapse GO:0045202 9.67 ADGRV1 MYO7A PCDH15 USH1C
3 microvillus GO:0005902 9.43 MYO7A USH1C
4 photoreceptor outer segment GO:0001750 9.43 MYO7A PCDH15 USH1C
5 photoreceptor connecting cilium GO:0032391 9.33 MYO7A USH1G USH2A
6 stereocilium bundle GO:0032421 9.32 PCDH15 USH2A
7 photoreceptor inner segment GO:0001917 9.26 MYO7A USH1C USH1G USH2A
8 stereocilium GO:0032420 9.02 ADGRV1 CDH23 MYO7A PCDH15 USH1C

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

(show all 15)
id Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.8 ADGRV1 CDH23 MYO7A PCDH15 USH2A
2 sensory perception of sound GO:0007605 9.8 ADGRV1 CDH23 MYO7A PCDH15 USH1C USH1G
3 inner ear receptor stereocilium organization GO:0060122 9.72 CDH23 MYO7A PCDH15 USH1C USH1G
4 homophilic cell adhesion via plasma membrane adhesion molecules GO:0007156 9.69 CDH23 CDHR1 PCDH15
5 inner ear morphogenesis GO:0042472 9.63 MYO7A USH1C USH1G
6 auditory receptor cell differentiation GO:0042491 9.61 MYO7A PCDH15 USH1C
7 locomotory behavior GO:0007626 9.55 CDH23 PCDH15
8 equilibrioception GO:0050957 9.55 CDH23 MYO7A PCDH15 USH1C USH1G
9 inner ear development GO:0048839 9.54 MYO7A PCDH15
10 inner ear receptor cell differentiation GO:0060113 9.54 MYO7A USH1G USH2A
11 actin filament bundle assembly GO:0051017 9.52 PCDH15 USH1C
12 photoreceptor cell maintenance GO:0045494 9.5 ADGRV1 CDH23 CDHR1 PCDH15 USH1C USH1G
13 auditory receptor cell stereocilium organization GO:0060088 9.49 MYO7A PCDH15
14 maintenance of animal organ identity GO:0048496 9.48 ADGRV1 USH2A
15 sensory perception of light stimulus GO:0050953 9.17 ADGRV1 CDH23 MYO7A PCDH15 USH1C USH1G

Molecular functions related to Usher Syndrome, Type 1d according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.26 ADGRV1 CDH23 CDHR1 PCDH15
2 spectrin binding GO:0030507 8.8 MYO7A USH1C USH1G

Sources for Usher Syndrome, Type 1d

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7 CNVD
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10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
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34 ICD10 via Orphanet
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