USH1F
MCID: USH041
MIFTS: 47

Usher Syndrome, Type if (USH1F)

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

Aliases & Classifications for Usher Syndrome, Type if

MalaCards integrated aliases for Usher Syndrome, Type if:

Name: Usher Syndrome, Type if 57 70
Usher Syndrome, Type 1f 57 20 13 39
Usher Syndrome Type 1f 12 29 6 15
Ush1f 57 12 20 72
Usher Syndrome Type if 12 72
Usher's Syndrome Type 1f 72
Usher Syndrome 1f 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
allelic to deafness, autosomal recessive 23
digenic form type id/f caused by digenic mutation in the cdh23 (605516}) and pcdh15 genes


HPO:

31
usher syndrome, type if:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110832
OMIM® 57 602083
OMIM Phenotypic Series 57 PS276900
MeSH 44 D052245
ICD10 32 H35.5
MedGen 41 C1865885
SNOMED-CT via HPO 68 258211005 28835009 700453005
UMLS 70 C1865885

Summaries for Usher Syndrome, Type if

UniProtKB/Swiss-Prot : 72 Usher syndrome 1F: 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.

MalaCards based summary : Usher Syndrome, Type if, also known as usher syndrome, type 1f, is related to dfnb1 and yemenite deaf-blind hypopigmentation syndrome. An important gene associated with Usher Syndrome, Type if is PCDH15 (Protocadherin Related 15). Affiliated tissues include eye, retina and bone, and related phenotypes are motor delay and congenital sensorineural hearing impairment

Disease Ontology : 12 An Usher syndrome type 1 that has material basis in caused by homozygous or compound heterozygous mutation in the PCDH15 gene on chromosome 10q.

OMIM® : 57 Usher syndrome constitutes a group of autosomal recessive disorders characterized by progressive pigmentary retinopathy and sensorineural hearing loss. Phenotypic distinctions are based on auditory and vestibular differences. Persons with forms of Usher syndrome type I (276900) have congenital severe to profound hearing loss and vestibular dysfunction. (602083) (Updated 05-Apr-2021)

Related Diseases for Usher Syndrome, Type if

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
Usher Syndrome, Type 2b

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

(show top 50) (show all 94)
# Related Disease Score Top Affiliating Genes
1 dfnb1 30.2 PCDH15 MYO7A
2 yemenite deaf-blind hypopigmentation syndrome 29.9 USH2A MYO7A
3 branchiootic syndrome 1 29.9 WHRN USH2A USH1G MYO7A CDH23
4 nonsyndromic hearing loss 29.7 USH2A PCDH15 MYO7A MYO15A CDH23
5 retinitis pigmentosa-deafness syndrome 28.8 WHRN USH2A USH1G USH1C PCDH15 MYO7A
6 deafness, autosomal recessive 2 28.6 WHRN USH1G USH1C PDZD7 PCDH15 MYO7A
7 deafness, autosomal recessive 23 28.2 WHRN USH2A USH1G USH1C PCDH15 MYO7A
8 rare genetic deafness 28.2 WHRN USH2A USH1C STRC PCDH15 MYO7A
9 autosomal recessive non-syndromic sensorineural deafness type dfnb 28.0 WHRN USH2A USH1G USH1C STRC PCDH15
10 sensorineural hearing loss 27.5 WHRN USH2A USH1G USH1C STRC PDZD7
11 deafness, autosomal recessive 12 27.3 WHRN USH2A USH1G USH1C STRC PCDH15
12 retinitis pigmentosa 26.9 WHRN USH2A USH1G USH1C STRC PDZD7
13 usher syndrome, type id 26.8 WHRN USH2A USH1G USH1C STRC PDZD7
14 usher syndrome 26.8 WHRN USH2A USH1G USH1C STRC PDZD7
15 usher syndrome, type i 25.7 WHRN VWA5B1 USH2A USH1G USH1C STRC
16 rare deafness 10.3 PCDH15 CDH23
17 deafness, autosomal dominant 65 10.3 WHRN PCDH15
18 acute hemorrhagic leukoencephalitis 10.3 USH1G CDH23
19 deafness, autosomal recessive 67 10.2 PCDH15 CIB2
20 deafness, autosomal recessive 100 10.2 MYO7A ADGRV1
21 deafness, autosomal recessive 62 10.2 CDH23 ADGRV1
22 nonsyndromic retinitis pigmentosa 10.2 USH2A CLRN1
23 deafness, autosomal dominant 20 10.2 USH1G CDH23
24 autosomal recessive nonsyndromic deafness 36 10.2 WHRN USH1C PCDH15
25 deafness, autosomal dominant 56 10.2 WHRN USH2A
26 deafness, autosomal recessive 3 10.2 MYO7A MYO15A
27 deafness, autosomal recessive 86 10.2 WHRN PCDH15 CDH23
28 deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome 10.2 PCDH15 CDH23
29 y-linked deafness 10.1 STRC PCDH15
30 deafness, autosomal recessive 102 10.1 WHRN MYO15A
31 autosomal recessive disease 10.1
32 deafness, autosomal dominant 17 10.1 MYO7A MYO15A
33 deafness, autosomal recessive 79 10.1 WHRN MYO15A
34 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
35 nonsyndromic deafness 10.1
36 late-onset retinal degeneration 10.1 WHRN USH2A ADGRV1
37 deafness, autosomal recessive 37 10.1 MYO7A MYO15A
38 stickler syndrome 10.1 WHRN USH1C PCDH15 CDH23
39 deafness, autosomal dominant 36 10.1 PCDH15 MYO15A CDH23
40 usher syndrome, type ik 10.1 PCDH15 CLRN1 CIB2 CDH23
41 deafness, autosomal recessive 83 10.0 MYO7A MYO15A CDH23
42 deafness, autosomal dominant 22 10.0 MYO7A MYO15A
43 deafness, autosomal dominant 6 10.0 MYO7A MYO15A CDH23
44 deafness, autosomal recessive 7 10.0 MYO7A MYO15A CDH23
45 deafness, autosomal recessive 9 10.0 MYO7A MYO15A CDH23
46 neuroretinitis 10.0
47 retinitis 10.0
48 y-linked monogenic disease 10.0 STRC PCDH15 CDH23
49 pendred syndrome 10.0 MYO7A MYO15A CDH23
50 waardenburg's syndrome 10.0 MYO7A MYO15A CDH23

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



Diseases related to Usher Syndrome, Type if

Symptoms & Phenotypes for Usher Syndrome, Type if

Human phenotypes related to Usher Syndrome, Type if:

31
# Description HPO Frequency HPO Source Accession
1 motor delay 31 HP:0001270
2 congenital sensorineural hearing impairment 31 HP:0008527
3 rod-cone dystrophy 31 HP:0000510

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
delayed motor milestones

Head And Neck Ears:
hearing loss, sensorineural, profound congenital

Head And Neck Eyes:
retinitis pigmentosa

Clinical features from OMIM®:

602083 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Usher Syndrome, Type if:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10 ADGRV1 CDH23 CEP250 CIB2 CLRN1 MYO15A
2 hearing/vestibular/ear MP:0005377 10 ADGRV1 CDH23 CEP250 CIB2 CLRN1 MYO15A
3 nervous system MP:0003631 9.83 ADGRV1 ARL5C CDH23 CEP250 CIB2 CLRN1
4 vision/eye MP:0005391 9.44 ADGRV1 CDH23 CEP250 CIB2 CLRN1 MYO15A

Drugs & Therapeutics for Usher Syndrome, Type if

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 An Open-label Study to Determine the Long-term Safety, Tolerability and Biological Activity of SAR421869 in Patients With Usher Syndrome Type 1B Active, not recruiting NCT02065011 Phase 1, Phase 2 Blood draw for the laboratory assessment
2 A Phase I/IIA Dose Escalation Safety Study of Subretinally Injected SAR421869, Administered to Patients With Retinitis Pigmentosa Associated With Usher Syndrome Type 1B Terminated NCT01505062 Phase 1, Phase 2 SAR421869
3 A Multicentre Longitudinal, Observational Natural History Study to Evaluate Disease Progression in Subjects With Usher Syndrome Type 1B (USH1B) Recruiting NCT03814499
4 Rate of Progression in USH2A-related Retinal Degeneration Active, not recruiting NCT03146078
5 Characterizing Rate of Progression in USHer Syndrome (CRUSH) Study Active, not recruiting NCT04820244

Search NIH Clinical Center for Usher Syndrome, Type if

Genetic Tests for Usher Syndrome, Type if

Genetic tests related to Usher Syndrome, Type if:

# Genetic test Affiliating Genes
1 Usher Syndrome Type 1f 29 PCDH15

Anatomical Context for Usher Syndrome, Type if

MalaCards organs/tissues related to Usher Syndrome, Type if:

40
Eye, Retina, Bone

Publications for Usher Syndrome, Type if

Articles related to Usher Syndrome, Type if:

(show top 50) (show all 54)
# Title Authors PMID Year
1
Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome. 6 57 61
18719945 2008
2
Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F. 61 57 6
11398101 2001
3
Mutation screening of the PCDH15 gene in Spanish patients with Usher syndrome type I. 61 6
22815625 2012
4
Proteomics, bioinformatics and targeted gene expression analysis reveals up-regulation of cochlin and identifies other potential biomarkers in the mouse model for deafness in Usher syndrome type 1F. 57 61
20097680 2010
5
Molecular screening of deafness in Algeria: high genetic heterogeneity involving DFNB1 and the Usher loci, DFNB2/USH1B, DFNB12/USH1D and DFNB23/USH1F. 61 6
19375528 2009
6
In vitro and ex vivo suppression by aminoglycosides of PCDH15 nonsense mutations underlying type 1 Usher syndrome. 57 61
17653769 2007
7
Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population. 61 6
15660226 2005
8
PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23. 61 6
14570705 2003
9
Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F. 61 6
11487575 2001
10
The combination of vestibular impairment and congenital sensorineural hearing loss predisposes patients to ocular anomalies, including Usher syndrome. 6
27743452 2017
11
Frequency of Usher syndrome type 1 in deaf children by massively parallel DNA sequencing. 6
26791358 2016
12
Genetic analysis of Tunisian families with Usher syndrome type 1: toward improving early molecular diagnosis. 6
27440999 2016
13
Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran. 6
26445815 2015
14
Identifying Children With Poor Cochlear Implantation Outcomes Using Massively Parallel Sequencing. 6
26166082 2015
15
Usher syndrome: an effective sequencing approach to establish a genetic and clinical diagnosis. 6
25575603 2015
16
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 6
25525159 2015
17
Targeted next generation sequencing for molecular diagnosis of Usher syndrome. 6
25404053 2014
18
Truncating variants in the majority of the cytoplasmic domain of PCDH15 are unlikely to cause Usher syndrome 1F. 6
25307757 2014
19
Cone responses in Usher syndrome types 1 and 2 by microvolt electroretinography. 6
25425308 2014
20
Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants. 6
25262649 2014
21
The CD2 isoform of protocadherin-15 is an essential component of the tip-link complex in mature auditory hair cells. 6
24940003 2014
22
The molecular basis of retinal dystrophies in pakistan. 6
24705292 2014
23
Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies. 6
23591405 2014
24
Massively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 1. 6
24618850 2014
25
Study of USH1 splicing variants through minigenes and transcript analysis from nasal epithelial cells. 6
23451239 2013
26
A population-based study of autosomal-recessive disease-causing mutations in a founder population. 6
22981120 2012
27
Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study. 6
22135276 2012
28
Four-year follow-up of diagnostic service in USH1 patients. 6
21436283 2011
29
Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis. 6
21569298 2011
30
Microarray-based mutation analysis of 183 Spanish families with Usher syndrome. 6
19683999 2010
31
UMD-USHbases: a comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genes. 6
18484607 2008
32
Development of a genotyping microarray for Usher syndrome. 6
16963483 2007
33
Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%. 6
16679490 2006
34
Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans. 6
15537665 2005
35
The R245X mutation of PCDH15 in Ashkenazi Jewish children diagnosed with nonsyndromic hearing loss foreshadows retinitis pigmentosa. 6
15028842 2004
36
A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome. 6
12711741 2003
37
Usher syndrome type 1-associated cadherins shape the photoreceptor outer segment. 61
28495838 2017
38
Evidence of genetic heterogeneity in Alberta Hutterites with Usher syndrome type I. 61
22690115 2012
39
Usher type 1G protein sans is a critical component of the tip-link complex, a structure controlling actin polymerization in stereocilia. 61
21436032 2011
40
An update on the genetics of usher syndrome. 61
21234346 2011
41
Identification of large rearrangements of the PCDH15 gene by combined MLPA and a CGH: large duplications are responsible for Usher syndrome. 61
20538994 2010
42
Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15. 61
19107147 2009
43
Characterization of the Kyoto circling (KCI) rat carrying a spontaneous nonsense mutation in the protocadherin 15 (Pcdh15) gene. 61
19151506 2009
44
Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism. 61
18463160 2008
45
Large genomic rearrangements within the PCDH15 gene are a significant cause of USH1F syndrome. 61
17277737 2007
46
Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease. 61
16545802 2006
47
Ames Waltzer deaf mice have reduced electroretinogram amplitudes and complex alternative splicing of Pcdh15 transcripts. 61
16799054 2006
48
Photoreceptor expression of the Usher syndrome type 1 protein protocadherin 15 (USH1F) and its interaction with the scaffold protein harmonin (USH1C). 61
15928608 2005
49
Duplicated genes with split functions: independent roles of protocadherin15 orthologues in zebrafish hearing and vision. 61
15634702 2005
50
Assessment of retinal structure and function in Ames waltzer mice. 61
12939319 2003

Variations for Usher Syndrome, Type if

ClinVar genetic disease variations for Usher Syndrome, Type if:

6 (show top 50) (show all 431)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PCDH15 PCDH15, IVS27, A-G, -2 SNV Pathogenic 4930 GRCh37:
GRCh38:
2 PCDH15 NM_033056.4(PCDH15):c.1088del (p.Leu363fs) Deletion Pathogenic 4932 rs199469706 GRCh37: 10:55973706-55973706
GRCh38: 10:54213946-54213946
3 PCDH15 PCDH15, 3-BP DEL, 5601AAC Deletion Pathogenic 4934 GRCh37:
GRCh38:
4 PCDH15 NM_033056.4(PCDH15):c.3316C>T (p.Arg1106Ter) SNV Pathogenic 46464 rs202033121 GRCh37: 10:55698632-55698632
GRCh38: 10:53938872-53938872
5 PCDH15 NM_033056.4(PCDH15):c.2645_2646del (p.Asp881_Tyr882insTer) Deletion Pathogenic 802573 rs1589950125 GRCh37: 10:55780057-55780058
GRCh38: 10:54020297-54020298
6 PCDH15 NM_033056.4(PCDH15):c.1863T>G (p.Tyr621Ter) SNV Pathogenic 802574 rs1590691343 GRCh37: 10:55892689-55892689
GRCh38: 10:54132929-54132929
7 PCDH15 NM_033056.4(PCDH15):c.1940C>G (p.Ser647Ter) SNV Pathogenic 4938 rs137853004 GRCh37: 10:55849801-55849801
GRCh38: 10:54090041-54090041
8 PCDH15 NM_033056.4(PCDH15):c.1927C>T (p.Arg643Ter) SNV Pathogenic 177724 rs727504301 GRCh37: 10:55849814-55849814
GRCh38: 10:54090054-54090054
9 PCDH15 NM_033056.4(PCDH15):c.2971C>T (p.Arg991Ter) SNV Pathogenic 224747 rs754391973 GRCh37: 10:55721550-55721550
GRCh38: 10:53961790-53961790
10 PCDH15 NM_033056.4(PCDH15):c.733C>T (p.Arg245Ter) SNV Pathogenic 4933 rs111033260 GRCh37: 10:56077174-56077174
GRCh38: 10:54317414-54317414
11 PCDH15 NM_001384140.1(PCDH15):c.3667_3668del (p.Ile1223fs) Deletion Pathogenic 1027565 GRCh37: 10:55626451-55626452
GRCh38: 10:53866691-53866692
12 PCDH15 NM_033056.4(PCDH15):c.1737C>G (p.Tyr579Ter) SNV Pathogenic 371411 rs1057517251 GRCh37: 10:55912907-55912907
GRCh38: 10:54153147-54153147
13 PCDH15 NM_033056.4(PCDH15):c.733C>T (p.Arg245Ter) SNV Pathogenic 4933 rs111033260 GRCh37: 10:56077174-56077174
GRCh38: 10:54317414-54317414
14 PCDH15 NM_033056.4(PCDH15):c.7C>T (p.Arg3Ter) SNV Pathogenic/Likely pathogenic 4931 rs137853001 GRCh37: 10:56424016-56424016
GRCh38: 10:54664256-54664256
15 PCDH15 NM_033056.4(PCDH15):c.1A>G (p.Met1Val) SNV Likely pathogenic 552490 rs1040514625 GRCh37: 10:56424022-56424022
GRCh38: 10:54664262-54664262
16 PCDH15 NM_033056.4(PCDH15):c.16del (p.Tyr6fs) Deletion Likely pathogenic 46446 rs397517451 GRCh37: 10:56424007-56424007
GRCh38: 10:54664247-54664247
17 PCDH15 NM_033056.4(PCDH15):c.5254_5280del (p.Pro1752_Pro1760del) Deletion Likely pathogenic 626267 rs767526540 GRCh37: 10:55582206-55582232
GRCh38: 10:53822446-53822472
18 PCDH15 NM_033056.4(PCDH15):c.1737C>G (p.Tyr579Ter) SNV Likely pathogenic 371411 rs1057517251 GRCh37: 10:55912907-55912907
GRCh38: 10:54153147-54153147
19 PCDH15 NM_033056.4(PCDH15):c.3441dup (p.Phe1148fs) Duplication Likely pathogenic 370113 rs770832663 GRCh37: 10:55663062-55663063
GRCh38: 10:53903302-53903303
20 PCDH15 NM_033056.4(PCDH15):c.3984-1G>C SNV Likely pathogenic 379716 rs1057520709 GRCh37: 10:55591294-55591294
GRCh38: 10:53831534-53831534
21 PCDH15 NM_033056.4(PCDH15):c.2785C>T (p.Arg929Ter) SNV Likely pathogenic 370242 rs1057516342 GRCh37: 10:55755492-55755492
GRCh38: 10:53995732-53995732
22 PCDH15 NM_033056.4(PCDH15):c.3806+1G>C SNV Likely pathogenic 558058 rs1554833227 GRCh37: 10:55616934-55616934
GRCh38: 10:53857174-53857174
23 PCDH15 NM_033056.4(PCDH15):c.4367+2T>C SNV Likely pathogenic 558259 rs1554822703 GRCh37: 10:55587151-55587151
GRCh38: 10:53827391-53827391
24 PCDH15 NM_033056.4(PCDH15):c.2869-1G>T SNV Likely pathogenic 558261 rs1554883705 GRCh37: 10:55721653-55721653
GRCh38: 10:53961893-53961893
25 PCDH15 NM_033056.4(PCDH15):c.3791_3794del (p.Ile1264fs) Deletion Likely pathogenic 558275 rs1554833249 GRCh37: 10:55616947-55616950
GRCh38: 10:53857187-53857190
26 PCDH15 NM_033056.4(PCDH15):c.4231_4234dup (p.Thr1412fs) Duplication Likely pathogenic 558480 rs1554822897 GRCh37: 10:55587285-55587286
GRCh38: 10:53827525-53827526
27 PCDH15 NM_033056.4(PCDH15):c.1917+2T>C SNV Likely pathogenic 558517 rs1554806149 GRCh37: 10:55892633-55892633
GRCh38: 10:54132873-54132873
28 PCDH15 NM_033056.4(PCDH15):c.4211+1del Deletion Likely pathogenic 558338 rs1554823231 GRCh37: 10:55588324-55588324
GRCh38: 10:53828564-53828564
29 PCDH15 NM_033056.4(PCDH15):c.3374-1G>T SNV Likely pathogenic 558437 rs1554852472 GRCh37: 10:55663131-55663131
GRCh38: 10:53903371-53903371
30 PCDH15 NM_001142771.2(PCDH15):c.4816dup (p.Met1606fs) Duplication Likely pathogenic 587635 rs766484375 GRCh37: 10:55566571-55566572
GRCh38: 10:53806811-53806812
31 PCDH15 NM_033056.4(PCDH15):c.3501+1G>T SNV Likely pathogenic 557946 rs1402893508 GRCh37: 10:55663002-55663002
GRCh38: 10:53903242-53903242
32 PCDH15 NM_033056.4(PCDH15):c.4308_4310GCC[7] (p.Pro1442_Pro1443dup) Microsatellite Likely pathogenic 626268 rs559130985 GRCh37: 10:55587197-55587198
GRCh38: 10:53827437-53827438
33 PCDH15 NM_033056.4(PCDH15):c.2751+2T>C SNV Likely pathogenic 553206 rs754543131 GRCh37: 10:55779950-55779950
GRCh38: 10:54020190-54020190
34 PCDH15 NM_033056.4(PCDH15):c.705+1G>A SNV Likely pathogenic 553216 rs1554903842 GRCh37: 10:56089355-56089355
GRCh38: 10:54329595-54329595
35 PCDH15 , LOC105378311 NM_033056.4(PCDH15):c.139del (p.Asp47fs) Deletion Likely pathogenic 553924 rs1555032952 GRCh37: 10:56287590-56287590
GRCh38: 10:54527830-54527830
36 PCDH15 , LOC105378311 NM_033056.4(PCDH15):c.145G>T (p.Glu49Ter) SNV Likely pathogenic 554937 rs1168400018 GRCh37: 10:56287584-56287584
GRCh38: 10:54527824-54527824
37 PCDH15 NM_033056.4(PCDH15):c.274C>T (p.Gln92Ter) SNV Likely pathogenic 555038 rs143842048 GRCh37: 10:56138586-56138586
GRCh38: 10:54378826-54378826
38 PCDH15 NM_033056.4(PCDH15):c.1305+1G>C SNV Likely pathogenic 555092 rs758947077 GRCh37: 10:55955442-55955442
GRCh38: 10:54195682-54195682
39 PCDH15 NM_033056.4(PCDH15):c.3984-2A>G SNV Likely pathogenic 555122 rs1554824185 GRCh37: 10:55591295-55591295
GRCh38: 10:53831535-53831535
40 PCDH15 NM_033056.4(PCDH15):c.3792_3798dup (p.Leu1267fs) Duplication Likely pathogenic 555648 rs1554833242 GRCh37: 10:55616942-55616943
GRCh38: 10:53857182-53857183
41 PCDH15 NM_033056.4(PCDH15):c.3502-2A>G SNV Likely pathogenic 555686 rs1554836566 GRCh37: 10:55626619-55626619
GRCh38: 10:53866859-53866859
42 PCDH15 NM_033056.4(PCDH15):c.3731_3734del (p.Asn1244fs) Deletion Likely pathogenic 555729 rs1554833314 GRCh37: 10:55617007-55617010
GRCh38: 10:53857247-53857250
43 PCDH15 NM_033056.4(PCDH15):c.158-2A>T SNV Likely pathogenic 556109 rs1304228309 GRCh37: 10:56138704-56138704
GRCh38: 10:54378944-54378944
44 PCDH15 NM_033056.4(PCDH15):c.29del (p.Cys10fs) Deletion Likely pathogenic 556343 rs1555135419 GRCh37: 10:56423994-56423994
GRCh38: 10:54664234-54664234
45 PCDH15 NM_033056.4(PCDH15):c.3806+2T>C SNV Likely pathogenic 557497 rs756692340 GRCh37: 10:55616933-55616933
GRCh38: 10:53857173-53857173
46 PCDH15 NM_033056.4(PCDH15):c.2052C>A (p.Tyr684Ter) SNV Likely pathogenic 556543 rs1554956088 GRCh37: 10:55839130-55839130
GRCh38: 10:54079370-54079370
47 PCDH15 NM_033056.4(PCDH15):c.1997+1G>T SNV Likely pathogenic 557874 rs763797356 GRCh37: 10:55849743-55849743
GRCh38: 10:54089983-54089983
48 PCDH15 NM_033056.4(PCDH15):c.84T>A (p.Tyr28Ter) SNV Likely pathogenic 550281 rs903145299 GRCh37: 10:56423939-56423939
GRCh38: 10:54664179-54664179
49 PCDH15 NM_033056.4(PCDH15):c.323del (p.Pro108fs) Deletion Likely pathogenic 550583 rs1554934073 GRCh37: 10:56129031-56129031
GRCh38: 10:54369271-54369271
50 PCDH15 NM_033056.4(PCDH15):c.2091+2T>C SNV Likely pathogenic 550612 rs1554956023 GRCh37: 10:55839089-55839089
GRCh38: 10:54079329-54079329

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

72
# Symbol AA change Variation ID SNP ID
1 PCDH15 p.Arg134Gln VAR_071696 rs767966376

Expression for Usher Syndrome, Type if

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

Pathways for Usher Syndrome, Type if

GO Terms for Usher Syndrome, Type if

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.31 WHRN USH2A USH1G USH1C PDZD7 PCDH15
2 cell projection GO:0042995 10.13 WHRN USH2A USH1C STRC PDZD7 MYO15A
3 synapse GO:0045202 9.96 WHRN USH1C PCDH15 MYO7A ADGRV1
4 cilium GO:0005929 9.93 WHRN STRC PDZD7 CIB2 CEP250
5 photoreceptor outer segment GO:0001750 9.83 USH1C PCDH15 MYO7A CIB2 CEP250
6 ciliary basal body GO:0036064 9.81 WHRN USH2A USH1G CEP250
7 photoreceptor connecting cilium GO:0032391 9.73 WHRN USH2A USH1G USH1C PDZD7 MYO7A
8 microvillus GO:0005902 9.72 USH1C MYO7A CLRN1
9 stereocilium tip GO:0032426 9.71 WHRN USH1C STRC PDZD7
10 stereocilium bundle GO:0032421 9.67 WHRN USH2A MYO15A
11 USH2 complex GO:1990696 9.67 WHRN USH2A PDZD7 ADGRV1
12 periciliary membrane compartment GO:1990075 9.63 WHRN USH2A ADGRV1
13 stereocilia ankle link GO:0002141 9.62 WHRN USH2A PDZD7 ADGRV1
14 photoreceptor inner segment GO:0001917 9.61 WHRN USH2A USH1G USH1C PDZD7 MYO7A
15 stereocilia ankle link complex GO:0002142 9.55 WHRN USH2A USH1C PDZD7 ADGRV1
16 stereocilium membrane GO:0060171 9.52 USH2A ADGRV1
17 stereocilium GO:0032420 9.36 WHRN USH1C STRC PDZD7 PCDH15 MYO7A

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.89 USH2A MYO7A CLRN1 CDH23 ADGRV1
2 inner ear receptor cell stereocilium organization GO:0060122 9.8 WHRN USH1G USH1C MYO7A CDH23 ADGRV1
3 inner ear morphogenesis GO:0042472 9.78 USH1G USH1C MYO7A MYO15A
4 auditory receptor cell stereocilium organization GO:0060088 9.77 WHRN STRC PDZD7 MYO7A CLRN1
5 establishment of protein localization GO:0045184 9.76 WHRN USH2A PDZD7 ADGRV1
6 photoreceptor cell maintenance GO:0045494 9.76 USH2A USH1G USH1C PCDH15 CLRN1 CIB2
7 homophilic cell adhesion via plasma membrane adhesion molecules GO:0007156 9.75 PCDH15 CDH23 CDH17
8 actin filament organization GO:0007015 9.74 MYO7A MYO15A CLRN1
9 equilibrioception GO:0050957 9.73 USH1G USH1C PCDH15 MYO7A CLRN1 CDH23
10 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.71 WHRN STRC PDZD7 ADGRV1
11 inner ear development GO:0048839 9.7 PCDH15 MYO7A ADGRV1
12 inner ear receptor cell differentiation GO:0060113 9.61 USH2A USH1G MYO7A
13 sensory perception of light stimulus GO:0050953 9.61 WHRN USH2A USH1G USH1C PCDH15 MYO7A
14 vesicle transport along actin filament GO:0030050 9.56 MYO7A MYO15A
15 auditory receptor cell development GO:0060117 9.55 PDZD7 CLRN1
16 inner ear auditory receptor cell differentiation GO:0042491 9.54 USH1C MYO7A
17 maintenance of animal organ identity GO:0048496 9.51 USH2A ADGRV1
18 sensory perception of sound GO:0007605 9.4 WHRN USH2A USH1G USH1C STRC PDZD7

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

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.35 PCDH15 CIB2 CDH23 CDH17 ADGRV1
2 microfilament motor activity GO:0000146 9.26 MYO7A MYO15A
3 actin-dependent ATPase activity GO:0030898 9.16 MYO7A MYO15A
4 spectrin binding GO:0030507 8.8 USH1G USH1C MYO7A

Sources for Usher Syndrome, Type if

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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