USH1D
MCID: USH040
MIFTS: 50

Usher Syndrome, Type Id (USH1D)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases
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Aliases & Classifications for Usher Syndrome, Type Id

MalaCards integrated aliases for Usher Syndrome, Type Id:

Name: Usher Syndrome, Type Id 57 71
Usher Syndrome Type 1d 11 28 5 14
Usher Syndrome, Type 1d 57 75 12
Ush1d 57 11 73
Usher Syndrome, Type Id/f, Digenic 28 5
Usher Syndrome Type Id 11 73
Usher Syndrome, Type 1d/f Digenic 57
Usher Syndrome, Type 1d/f 28
Usher's Syndrome Type 1d 73
Usher's Syndrome Type 1h 73
Usher Syndrome Type Ih 73
Usher Syndrome 1d/f 73
Usher Syndrome 1d 73
Usher Syndrome 1h 73
Ush1d/f 73
Ush1df 73

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
allelic to deafness, autosomal recessive 12
second most common form of usher syndrome type i
digenic form type id/f caused by digenic mutation in the cdh23 and pcdh15 genes


Classifications:



External Ids:

Disease Ontology 11 DOID:0110831
OMIM® 57 601067
OMIM Phenotypic Series 57 PS276900
MeSH 43 D052245
ICD10 31 H35.5
UMLS 71 C1832845

Summaries for Usher Syndrome, Type Id

OMIM®: 57 Usher syndrome type I is an autosomal recessive condition characterized by profound congenital hearing impairment with unintelligible speech, early retinitis pigmentosa (usually evident within the first decade), and constant vestibular dysfunction. Type I is distinguished from type II (276901) on the basis of severity of hearing loss and the extent of vestibular involvement. Type I patients are profoundly deaf, whereas type II patients are 'hard of hearing.' Vestibular function is defective in type I patients, whereas type II patients have normal vestibular function (Moller et al., 1989). Patients with type III (USH3; 276902) have progressive hearing loss. For a discussion of genetic heterogeneity of Usher syndrome type I, see 276900. (601067) (Updated 08-Dec-2022)

MalaCards based summary: Usher Syndrome, Type Id, also known as usher syndrome type 1d, is related to retinal degeneration and dfnb1. An important gene associated with Usher Syndrome, Type Id is CDH23 (Cadherin Related 23), and among its related pathways/superpathways are Olfactory Signaling Pathway and Sensory processing of sound. Affiliated tissues include retina, eye and brain, and related phenotypes are hearing impairment and rod-cone dystrophy

UniProtKB/Swiss-Prot 73 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.

Disease Ontology: 11 An Usher syndrome type 1 that has material basis in homozygous or compound heterozygous mutation in the CDH23 gene on chromosome 10q22.

Wikipedia: 75 Usher syndrome, also known as Hallgren syndrome, Usher-Hallgren syndrome, retinitis pigmentosa-dysacusis... more...

Related Diseases for Usher Syndrome, Type Id

Diseases in the Usher Syndrome family:

Usher Syndrome, Type I Usher Syndrome, Type Iia
Usher Syndrome, Type Iiia Usher Syndrome, Type Ic
Usher Syndrome, Type Id Usher Syndrome, Type if
Usher Syndrome, Type Iic Usher Syndrome, Type Ig
Usher Syndrome, Type Iid Usher Syndrome, Type Ih
Usher Syndrome, Type Iiib Usher Syndrome, Type Ij
Usher Syndrome, Type Ik Usher Syndrome, Type Iv
Usher Syndrome, Type 1m Usher Syndrome Type 2

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

(show top 50) (show all 132)
# Related Disease Score Top Affiliating Genes
1 retinal degeneration 30.5 USH2A USH1C MYO7A CDHR1 CDH23
2 dfnb1 30.1 PCDH15 OTOF MYO7A GJB2
3 usher syndrome, type ic 30.1 USH1C TMC1 PCDH15 MYO7A MYO15A GJB2
4 usher syndrome, type if 30.0 USH1C PCDH15 MYO7A LOC105378311 CDH23 CDH17
5 sensorineural hearing loss 29.7 USH2A USH1C TMC1 SLC26A4 PCDH15 OTOG
6 deafness, autosomal recessive 1a 29.7 TMC1 SLC26A4 OTOF MYO7A MYO15A GJB2
7 deafness, autosomal recessive 2 29.5 USH1C TMC1 SLC26A4 PCDH15 OTOF MYO7A
8 usher syndrome, type iiia 29.5 USH2A USH1C TMC1 PCDH15 OTOF MYO7A
9 retinitis pigmentosa 29.4 USH2A USH1C TMC1 SLC26A4 PCDH15 OTOF
10 deafness, autosomal recessive 23 29.4 USH2A USH1C TMC1 PCDH15 MYO7A MYO15A
11 usher syndrome, type iia 29.4 USH2A USH1C TMC1 SLC26A4 PCDH15 OTOF
12 usher syndrome 29.3 USH2A USH1C TMC1 SLC26A4 PCDH15 OTOG
13 rare genetic deafness 29.2 USH2A USH1C TMC1 SLC26A4 PCDH15 OTOG
14 deafness, autosomal recessive 12 29.2 USH2A USH1C TMC1 SLC26A4 PCDH15 OTOF
15 usher syndrome, type i 29.0 USH2A USH1C TMC1 SLC26A4 PCDH15 OTOG
16 usher syndrome type 2 28.9 USH2A USH1C TMC1 SLC26A4 PCDH15 OTOG
17 usher syndrome, type ih 11.6
18 retinitis pigmentosa-deafness syndrome 10.4 MYO7A CDH23
19 autosomal recessive nonsyndromic deafness 70 10.4 MYO15A CDH23
20 autosomal dominant nonsyndromic deafness 78 10.3 OTOG MYO15A
21 deafness, autosomal recessive 57 10.3 USH1C CDH23
22 deafness, autosomal recessive 7 10.3 USH1C TMC1
23 deafness, autosomal dominant 48 10.3 MYO7A MYO15A
24 acute hemorrhagic leukoencephalitis 10.3 MYO7A CDH23
25 deafness, autosomal dominant 59 10.3 USH1C GJB2
26 deafness, autosomal dominant 65 10.3 USH1C CDH23
27 deafness, autosomal recessive 66 10.3 PCDH15 OTOG CDH23
28 pituitary adenoma 5, multiple types 10.3 CDH23 C10orf105
29 deafness, autosomal recessive 84a 10.3 MYO15A CDH23
30 deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome 10.3 PCDH15 MYO7A CDH23
31 deafness, autosomal recessive 3 10.3 MYO7A MYO15A GJB2
32 deafness, autosomal recessive 91 10.3 GJB2 CDH23
33 deafness, autosomal recessive 17 10.3 USH1C GJB2
34 cone-rod dystrophy 15 10.3 CDHR1 CDH17
35 usher syndrome, type ig 10.3 USH1C MYO7A CDH23
36 deafness, autosomal recessive 25 10.3 USH1C MYO15A
37 deafness, autosomal recessive 6 10.3 USH1C TMC1 CDH23
38 deafness, autosomal recessive 79 10.3 MYO15A GJB2 CDH23
39 toxic labyrinthitis 10.3 TMC1 SLC26A4
40 deafness and myopia 10.3 MYO7A MYO15A GJB2
41 deafness, autosomal dominant 2b 10.3 SLC26A4 GJB2
42 deafness, autosomal recessive 67 10.3 TMC1 PCDH15 CDH23
43 deafness, autosomal dominant 17 10.3 MYO7A MYO15A GJB2
44 deafness, autosomal dominant 6 10.3 SLC26A4 GJB2 CDH23
45 peripheral retinal degeneration 10.3
46 deafness, autosomal recessive 15 10.3 USH1C MYO15A GJB2
47 deafness, autosomal dominant 1, with or without thrombocytopenia 10.3 MYO7A MYO15A GJB2
48 deafness, autosomal recessive 77 10.3 SLC26A4 GJB2 CDH23
49 deafness, autosomal recessive 93 10.3 OTOF GJB2
50 deafness, autosomal recessive 35 10.3 OTOF MYO15A CDH23

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



Diseases related to Usher Syndrome, Type Id

Symptoms & Phenotypes for Usher Syndrome, Type Id

Human phenotypes related to Usher Syndrome, Type Id:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hearing impairment 30 HP:0000365
2 rod-cone dystrophy 30 HP:0000510
3 vestibular dysfunction 30 HP:0001751

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Ears:
vestibular dysfunction
hearing loss, congenital profound

Head And Neck Eyes:
retinitis pigmentosa

Clinical features from OMIM®:

601067 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Usher Syndrome, Type Id:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.97 ARHGEF40 CDH23 GJB2 MYO15A MYO7A OTOF
2 hearing/vestibular/ear MP:0005377 9.73 CDH23 GJB2 MYO15A MYO7A OTOF OTOG
3 vision/eye MP:0005391 9.28 ARHGEF40 CDH23 CDHR1 GJB2 MYO15A MYO7A

Drugs & Therapeutics for Usher Syndrome, Type Id

Search Clinical Trials, NIH Clinical Center for Usher Syndrome, Type Id

Genetic Tests for Usher Syndrome, Type Id

Genetic tests related to Usher Syndrome, Type Id:

# Genetic test Affiliating Genes
1 Usher Syndrome Type 1d 28 CDH23 PCDH15
2 Usher Syndrome, Type 1d/f 28
3 Usher Syndrome, Type Id/f, Digenic 28

Anatomical Context for Usher Syndrome, Type Id

Organs/tissues related to Usher Syndrome, Type Id:

MalaCards : Retina, Eye, Brain, Bone
ODiseA: Brain

Publications for Usher Syndrome, Type Id

Articles related to Usher Syndrome, Type Id:

(show top 50) (show all 64)
# Title Authors PMID Year
1
Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes. 62 57 5
21940737 2011
2
Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D. 62 57 5
11138009 2001
3
Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans. 57 5
15537665 2005
4
Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population. 62 5
15660226 2005
5
CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness. 62 5
12075507 2002
6
Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23. 62 5
11090341 2001
7
Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D. 62 57
11138008 2001
8
Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10. 62 57
8894709 1996
9
Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease. 5
26872967 2016
10
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 5
25525159 2015
11
Truncating variants in the majority of the cytoplasmic domain of PCDH15 are unlikely to cause Usher syndrome 1F. 5
25307757 2014
12
Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants. 5
25262649 2014
13
Study of USH1 splicing variants through minigenes and transcript analysis from nasal epithelial cells. 5
23451239 2013
14
Mutation screening of the PCDH15 gene in Spanish patients with Usher syndrome type I. 5
22815625 2012
15
Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children. 5
20613545 2010
16
Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome. 5
18719945 2008
17
The R245X mutation of PCDH15 in Ashkenazi Jewish children diagnosed with nonsyndromic hearing loss foreshadows retinitis pigmentosa. 5
15028842 2004
18
A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome. 5
12711741 2003
19
Usher syndrome: an otoneurologic study. 57
2909824 1989
20
Retinal cadherins and the retinal cadherinopathies: Current concepts and future directions. 62
35066146 2022
21
Variants in CDH23 cause a broad spectrum of hearing loss: from non-syndromic to syndromic hearing loss as well as from congenital to age-related hearing loss. 62
35020051 2022
22
[Genetic diagnosis of a pedigree affected with Usher syndrome type 1D/F]. 62
34625930 2021
23
Rbm24 regulates inner-ear-specific alternative splicing and is essential for maintaining auditory and motor coordination. 62
32887533 2021
24
Identification of Novel CDH23 Variants Causing Moderate to Profound Progressive Nonsyndromic Hearing Loss. 62
33316915 2020
25
[Study on syndromic deafness caused by novel pattern of compound heterozygous variants in the CDH23 gene]. 62
32911884 2020
26
In silico analysis of a novel causative mutation in Cadherin23 gene identified in an Omani family with hearing loss. 62
32115674 2020
27
Targeted Next-Generation Sequencing Identified Novel Compound Heterozygous Variants in the CDH23 Gene Causing Usher Syndrome Type ID in a Chinese Patient. 62
32425987 2020
28
A novel splice-site variant in CDH23 in a patient with Usher syndrome type 1. 62
31755791 2019
29
Triple Vectors Expand AAV Transfer Capacity in the Retina. 62
29292161 2018
30
Usher syndrome type 1-associated cadherins shape the photoreceptor outer segment. 62
28495838 2017
31
CDH23 Related Hearing Loss: A New Genetic Risk Factor for Semicircular Canal Dehiscence? 62
27631835 2016
32
Cadherin 23-C Regulates Microtubule Networks by Modifying CAMSAP3's Function. 62
27349180 2016
33
Sector Retinitis Pigmentosa Associated With Novel Compound Heterozygous Mutations of CDH23. 62
26878454 2016
34
High prevalence of CDH23 mutations in patients with congenital high-frequency sporadic or recessively inherited hearing loss. 62
25963016 2015
35
Compound heterozygosity of the functionally null Cdh23(v-ngt) and hypomorphic Cdh23(ahl) alleles leads to early-onset progressive hearing loss in mice. 62
24172198 2013
36
The Usher gene cadherin 23 is expressed in the zebrafish brain and a subset of retinal amacrine cells. 62
22977299 2012
37
An ENU-induced mutation of Cdh23 causes congenital hearing loss, but no vestibular dysfunction, in mice. 62
21689626 2011
38
Ca2+ homeostasis defects and hereditary hearing loss. 62
21698697 2011
39
Usher type 1G protein sans is a critical component of the tip-link complex, a structure controlling actin polymerization in stereocilia. 62
21436032 2011
40
An update on the genetics of usher syndrome. 62
21234346 2011
41
Expression of cadherin 23 isoforms is not conserved: implications for a mouse model of Usher syndrome type 1D. 62
19756182 2009
42
Molecular screening of deafness in Algeria: high genetic heterogeneity involving DFNB1 and the Usher loci, DFNB2/USH1B, DFNB12/USH1D and DFNB23/USH1F. 62
19375528 2009
43
A mouse model for nonsyndromic deafness (DFNB12) links hearing loss to defects in tip links of mechanosensory hair cells. 62
19270079 2009
44
Mutation profile of the CDH23 gene in 56 probands with Usher syndrome type I. 62
18429043 2008
45
Usher syndrome type 1 due to missense mutations on both CDH23 alleles: investigation of mRNA splicing. 62
18273900 2008
46
Distribution and frequencies of CDH23 mutations in Japanese patients with non-syndromic hearing loss. 62
17850630 2007
47
Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease. 62
16545802 2006
48
Fates of Cdh23/CDH23 with mutations affecting the cytoplasmic region. 62
16281288 2006
49
Protocadherin-21 (PCDH21), a candidate gene for human retinal dystrophies. 62
16288196 2005
50
Photoreceptor expression of the Usher syndrome type 1 protein protocadherin 15 (USH1F) and its interaction with the scaffold protein harmonin (USH1C). 62
15928608 2005

Variations for Usher Syndrome, Type Id

ClinVar genetic disease variations for Usher Syndrome, Type Id:

5 (show top 50) (show all 562)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CDH23 NM_022124.6(CDH23):c.1987-1G>A SNV Pathogenic
397608 rs1060499714 GRCh37: 10:73447403-73447403
GRCh38: 10:71687646-71687646
2 CDH23 NM_022124.6(CDH23):c.4210-2A>G SNV Pathogenic
585306 rs557620034 GRCh37: 10:73498253-73498253
GRCh38: 10:71738496-71738496
3 CDH23 NM_022124.6(CDH23):c.6000C>A (p.Tyr2000Ter) SNV Pathogenic
599084 rs1564794944 GRCh37: 10:73550121-73550121
GRCh38: 10:71790364-71790364
4 CDH23, C10orf105 NM_022124.6(CDH23):c.3353del (p.Gly1118fs) DEL Pathogenic
1185587 GRCh37: 10:73472553-73472553
GRCh38: 10:71712796-71712796
5 CDH23 NM_022124.6(CDH23):c.4309C>T (p.Arg1437Ter) SNV Pathogenic
45943 rs397517329 GRCh37: 10:73498354-73498354
GRCh38: 10:71738597-71738597
6 CDH23 NM_022124.6(CDH23):c.1428dup (p.Thr477fs) DUP Pathogenic
423771 rs750803248 GRCh37: 10:73406349-73406350
GRCh38: 10:71646592-71646593
7 CDH23 NM_022124.6(CDH23):c.2289+1G>A SNV Pathogenic
504507 rs769433759 GRCh37: 10:73454017-73454017
GRCh38: 10:71694260-71694260
8 CDH23 NM_022124.6(CDH23):c.8239del (p.Val2747fs) DEL Pathogenic
522713 rs1554877007 GRCh37: 10:73567094-73567094
GRCh38: 10:71807337-71807337
9 CDH23 NM_022124.6(CDH23):c.6050-9G>A SNV Pathogenic
46001 rs367928692 GRCh37: 10:73550880-73550880
GRCh38: 10:71791123-71791123
10 CDH23, C10orf105 NM_022124.6(CDH23):c.3241C>T (p.Arg1081Ter) SNV Pathogenic
521399 rs866435331 GRCh37: 10:73472442-73472442
GRCh38: 10:71712685-71712685
11 CDH23 NM_022124.6(CDH23):c.6285dup (p.Glu2096Ter) DUP Pathogenic
560434 rs1564796487 GRCh37: 10:73552969-73552970
GRCh38: 10:71793212-71793213
12 CDH23 NM_022124.6(CDH23):c.4488G>C (p.Gln1496His) SNV Pathogenic
4915 rs121908347 GRCh37: 10:73499529-73499529
GRCh38: 10:71739772-71739772
13 CDH23 NM_022124.6(CDH23):c.7362+5G>A SNV Pathogenic
4918 rs727502931 GRCh37: 10:73559391-73559391
GRCh38: 10:71799634-71799634
14 CDH23 NM_022124.6(CDH23):c.2206C>T (p.Arg736Ter) SNV Pathogenic
693998 rs1230303971 GRCh37: 10:73453933-73453933
GRCh38: 10:71694176-71694176
15 CDH23 NM_022124.6(CDH23):c.945+1G>A SNV Pathogenic
585305 rs727502919 GRCh37: 10:73375374-73375374
GRCh38: 10:71615617-71615617
16 PCDH15 NM_001384140.1(PCDH15):c.2971C>T (p.Arg991Ter) SNV Pathogenic
224747 rs754391973 GRCh37: 10:55721550-55721550
GRCh38: 10:53961790-53961790
17 PCDH15 NM_001384140.1(PCDH15):c.3316C>T (p.Arg1106Ter) SNV Pathogenic
46464 rs202033121 GRCh37: 10:55698632-55698632
GRCh38: 10:53938872-53938872
18 PCDH15 NM_001384140.1(PCDH15):c.1927C>T (p.Arg643Ter) SNV Pathogenic
177724 rs727504301 GRCh37: 10:55849814-55849814
GRCh38: 10:54090054-54090054
19 PCDH15 NM_001384140.1(PCDH15):c.2148_2155del (p.Phe717fs) DEL Pathogenic
931808 rs2094144598 GRCh37: 10:55826582-55826589
GRCh38: 10:54066822-54066829
20 PCDH15 NM_001384140.1(PCDH15):c.1088del (p.Leu363fs) DEL Pathogenic
4932 rs199469706 GRCh37: 10:55973706-55973706
GRCh38: 10:54213946-54213946
21 PCDH15, LOC105378311 NM_001384140.1(PCDH15):c.92-528C>T SNV Pathogenic
932235 rs190773725 GRCh37: 10:56288165-56288165
GRCh38: 10:54528405-54528405
22 PCDH15 NM_001384140.1(PCDH15):c.3667_3668del (p.Ile1223fs) DEL Pathogenic
1027565 rs2079481708 GRCh37: 10:55626451-55626452
GRCh38: 10:53866691-53866692
23 PCDH15 NM_001384140.1(PCDH15):c.1441-1G>T SNV Pathogenic
1686009 GRCh37: 10:55943354-55943354
GRCh38: 10:54183594-54183594
24 CDH23-AS1, CDH23 NM_022124.6(CDH23):c.193del (p.Leu65fs) DEL Pathogenic
Pathogenic
4925 rs796051861 GRCh37: 10:73269882-73269882
GRCh38: 10:71510125-71510125
25 PCDH15 NM_001384140.1(PCDH15):c.16del (p.Tyr6fs) DEL Pathogenic
46446 rs397517451 GRCh37: 10:56424007-56424007
GRCh38: 10:54664247-54664247
26 CDH23 NM_022124.6(CDH23):c.5237G>A (p.Arg1746Gln) SNV Pathogenic
Pathogenic
4916 rs111033270 GRCh37: 10:73539073-73539073
GRCh38: 10:71779316-71779316
27 CDH23, C10orf105 NM_022124.6(CDH23):c.3839TGA[1] (p.Met1281del) MICROSAT Pathogenic
4917 rs796051860 GRCh37: 10:73491866-73491868
GRCh38: 10:71732109-71732111
28 CDH23, C10orf105 NM_022124.6(CDH23):c.3880C>T (p.Gln1294Ter) SNV Pathogenic
4921 rs121908350 GRCh37: 10:73491908-73491908
GRCh38: 10:71732151-71732151
29 CDH23 NM_022124.6(CDH23):c.9565C>T (p.Arg3189Trp) SNV Pathogenic
4926 rs121908353 GRCh37: 10:73572579-73572579
GRCh38: 10:71812822-71812822
30 CDH23, C10orf105 NM_022124.6(CDH23):c.3428dup (p.His1143fs) DUP Pathogenic
560433 rs1253419936 GRCh37: 10:73483859-73483860
GRCh38: 10:71724102-71724103
31 PCDH15 NM_001384140.1(PCDH15):c.733C>T (p.Arg245Ter) SNV Pathogenic
Pathogenic
4933 rs111033260 GRCh37: 10:56077174-56077174
GRCh38: 10:54317414-54317414
32 CDH23-AS1, CDH23 NM_022124.5(CDH23):c.337del DEL Pathogenic
1185586 GRCh37: 10:73270876-73270876
GRCh38: 10:71511119-71511119
33 PCDH15 NM_033056.4(PCDH15):c.5598AAC[1] (p.Thr1869del) MICROSAT Pathogenic
46505 rs113363047 GRCh37: 10:55581883-55581885
GRCh38: 10:53822123-53822125
34 CDH23, C10orf105 NM_022124.6(CDH23):c.3431-1G>A SNV Likely Pathogenic
1687244 GRCh37: 10:73485128-73485128
GRCh38: 10:71725371-71725371
35 PCDH15 NM_001384140.1(PCDH15):c.3717+1G>T SNV Likely Pathogenic
1073476 GRCh37: 10:55626401-55626401
GRCh38: 10:53866641-53866641
36 PCDH15 NM_001384140.1(PCDH15):c.4015A>T (p.Lys1339Ter) SNV Likely Pathogenic
1723942 GRCh37: 10:55591262-55591262
GRCh38: 10:53831502-53831502
37 PCDH15 NM_001384140.1(PCDH15):c.3745C>T (p.Gln1249Ter) SNV Likely Pathogenic
1724066 GRCh37: 10:55616996-55616996
GRCh38: 10:53857236-53857236
38 PCDH15 NM_001384140.1(PCDH15):c.4098_4099dup (p.Gly1367fs) MICROSAT Likely Pathogenic
1724143 GRCh37: 10:55591177-55591178
GRCh38: 10:53831417-53831418
39 PCDH15 NM_001384140.1(PCDH15):c.3910_3911del (p.Thr1304fs) MICROSAT Likely Pathogenic
1724147 GRCh37: 10:55600152-55600153
GRCh38: 10:53840392-53840393
40 PCDH15 NM_001384140.1(PCDH15):c.2205del (p.Phe735fs) DEL Likely Pathogenic
1724187 GRCh37: 10:55826532-55826532
GRCh38: 10:54066772-54066772
41 PCDH15 NM_001384140.1(PCDH15):c.251G>A (p.Trp84Ter) SNV Likely Pathogenic
1725956 GRCh37: 10:56138609-56138609
GRCh38: 10:54378849-54378849
42 PCDH15 NM_001384140.1(PCDH15):c.1515dup (p.Thr506fs) DUP Likely Pathogenic
1726216 GRCh37: 10:55943278-55943279
GRCh38: 10:54183518-54183519
43 PCDH15 NM_001384140.1(PCDH15):c.838_839delinsG (p.Leu280fs) INDEL Likely Pathogenic
1726277 GRCh37: 10:56077068-56077069
GRCh38: 10:54317308-54317309
44 PCDH15 NM_001384140.1(PCDH15):c.3144dup (p.Ala1049fs) DUP Likely Pathogenic
1726305 GRCh37: 10:55700713-55700714
GRCh38: 10:53940953-53940954
45 PCDH15 NM_001384140.1(PCDH15):c.2952_2953delinsC (p.Ser985fs) INDEL Likely Pathogenic
1726321 GRCh37: 10:55721568-55721569
GRCh38: 10:53961808-53961809
46 PCDH15 NM_001384140.1(PCDH15):c.1322_1323insGTCTCTA (p.His442fs) INSERT Likely Pathogenic
1726374 GRCh37: 10:55945011-55945012
GRCh38: 10:54185251-54185252
47 PCDH15 NM_001384140.1(PCDH15):c.3112G>T (p.Glu1038Ter) SNV Likely Pathogenic
1724809 GRCh37: 10:55719502-55719502
GRCh38: 10:53959742-53959742
48 PCDH15 NM_001384140.1(PCDH15):c.2898_2899del (p.Arg966fs) MICROSAT Likely Pathogenic
1724877 GRCh37: 10:55721622-55721623
GRCh38: 10:53961862-53961863
49 PCDH15 NM_001384140.1(PCDH15):c.3613A>T (p.Lys1205Ter) SNV Likely Pathogenic
1724889 GRCh37: 10:55626506-55626506
GRCh38: 10:53866746-53866746
50 PCDH15 NM_001384140.1(PCDH15):c.1102_1103del (p.Glu368fs) DEL Likely Pathogenic
1724992 GRCh37: 10:55955645-55955646
GRCh38: 10:54195885-54195886

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

73 (show all 25)
# Symbol AA change Variation ID SNP ID
1 CDH23 p.Gln1496His VAR_012174 rs121908347
2 CDH23 p.Arg1746Gln VAR_012178 rs111033270
3 CDH23 p.Thr1209Ala VAR_024031 rs41281314
4 CDH23 p.Arg1507Gln VAR_024032 rs373480195
5 CDH23 p.Arg3189Trp VAR_024033 rs121908353
6 CDH23 p.Ser3245Phe VAR_024034
7 CDH23 p.Glu247Lys VAR_027318
8 CDH23 p.Ala484Pro VAR_027321
9 CDH23 p.Pro1206Arg VAR_027325
10 CDH23 p.Gly2017Ser VAR_027334 rs183431253
11 CDH23 p.Ser2517Gly VAR_027340 rs759093040
12 CDH23 p.Gly2744Ser VAR_027342 rs376189742
13 CDH23 p.Arg2833Gly VAR_027343 rs760130862
14 CDH23 p.Arg3175His VAR_027347 rs140884994
15 CDH23 p.His755Tyr VAR_046407 rs181255269
16 CDH23 p.Val1090Ile VAR_046410 rs368487578
17 CDH23 p.Asn1098Ser VAR_046411 rs41281310
18 CDH23 p.Pro1788Leu VAR_046419 rs564555435
19 CDH23 p.Arg1912Trp VAR_046423 rs397517344
20 CDH23 p.Asp1930Asn VAR_046424
21 CDH23 p.Asp2376Val VAR_046429
22 CDH23 p.Thr2530Ile VAR_046432 rs781406146
23 CDH23 p.Gly2771Ser VAR_046434 rs201076440
24 CDH23 p.Val2968Ala VAR_046437 rs765847991
25 PCDH15 p.Asp178Gly VAR_069297

Expression for Usher Syndrome, Type Id

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

Pathways for Usher Syndrome, Type Id

GO Terms for Usher Syndrome, Type Id

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

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016021 10.48 C10orf105 CDH17 CDH23 CDHR1 CFAP47 GJB2
2 membrane GO:0016020 10.48 C10orf105 CDH17 CDH23 CDHR1 CFAP47 GJB2
3 photoreceptor outer segment GO:0001750 9.88 USH1C PCDH15 MYO7A
4 stereocilium tip GO:0032426 9.63 CDH23 TMC1 USH1C
5 stereocilia ankle link complex GO:0002142 9.56 USH2A USH1C
6 photoreceptor inner segment GO:0001917 9.56 USH2A USH1C MYO7A CDH23
7 stereocilium bundle GO:0032421 9.54 USH2A MYO15A
8 stereocilium GO:0032420 9.32 USH1C PCDH15 MYO7A MYO15A CDH23

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 homophilic cell adhesion via plasma membrane adhesion molecules GO:0007156 10.11 PCDH15 CDHR1 CDH23 CDH17
2 visual perception GO:0007601 10.07 USH2A PCDH15 MYO7A CDH23
3 photoreceptor cell maintenance GO:0045494 10.02 CDH23 CDHR1 PCDH15 USH1C USH2A
4 inner ear morphogenesis GO:0042472 9.91 USH1C MYO7A MYO15A CDH23
5 inner ear development GO:0048839 9.88 PCDH15 MYO7A GJB2 CDH23
6 equilibrioception GO:0050957 9.86 USH1C PCDH15 MYO7A CDH23
7 auditory receptor cell stereocilium organization GO:0060088 9.85 CDH23 MYO7A PCDH15
8 post-embryonic animal organ morphogenesis GO:0048563 9.78 MYO7A CDH23
9 inner ear receptor cell stereocilium organization GO:0060122 9.77 USH1C PCDH15 MYO7A CDH23
10 inner ear auditory receptor cell differentiation GO:0042491 9.7 USH2A USH1C PCDH15 MYO7A CDH23
11 sensory perception of sound GO:0007605 9.68 USH2A USH1C TMTC4 TMC1 SLC26A4 PCDH15
12 inner ear receptor cell differentiation GO:0060113 9.67 USH2A MYO7A
13 sensory perception of light stimulus GO:0050953 9.65 CDH23 MYO7A PCDH15 USH1C USH2A

Sources for Usher Syndrome, Type Id

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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