MCID: RTN187
MIFTS: 43

Retinitis Pigmentosa-Deafness Syndrome

Categories: Rare diseases, Genetic diseases, Ear diseases

Aliases & Classifications for Retinitis Pigmentosa-Deafness Syndrome

MalaCards integrated aliases for Retinitis Pigmentosa-Deafness Syndrome:

Name: Retinitis Pigmentosa-Deafness Syndrome 57 12 53 29 6
Retinitis Pigmentosa 21, Formerly 57 53
Retinitis Pigmentosa 8, Formerly 57 53
Rp21, Formerly 57 53
Rp8, Formerly 57 53
Retinitis Pigmentosa 21, Formerly; Rp21, Formerly 57
Retinitis Pigmentosa 8, Formerly; Rp8, Formerly 57
Usher Syndrome 73

Classifications:



External Ids:

OMIM 57 500004
Disease Ontology 12 DOID:0110829
ICD10 33 H35.5
MedGen 42 C0271097
UMLS 73 C1568248

Summaries for Retinitis Pigmentosa-Deafness Syndrome

Disease Ontology : 12 An Usher syndrome characterized by retinitis pigmentosa and onset of sensorineural hearing impairment in the teens that has material basis in mutation in the MTTS2 gene in the mitochondrial genome.

MalaCards based summary : Retinitis Pigmentosa-Deafness Syndrome, also known as retinitis pigmentosa 21, formerly, is related to usher syndrome and usher syndrome, type ic, and has symptoms including coughing, snoring and tinnitus. An important gene associated with Retinitis Pigmentosa-Deafness Syndrome is MT-TS2 (Mitochondrially Encoded TRNA Serine 2 (AGU/C)). The drug Omega 3 Fatty Acid has been mentioned in the context of this disorder. Affiliated tissues include retina, testes and bone, and related phenotypes are hearing/vestibular/ear and vision/eye

Description from OMIM: 500004

Related Diseases for Retinitis Pigmentosa-Deafness Syndrome

Diseases related to Retinitis Pigmentosa-Deafness Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 27)
# Related Disease Score Top Affiliating Genes
1 usher syndrome 29.6 ADGRV1 CDH23 MYO7A PCDH15
2 usher syndrome, type ic 10.1 CDH23 MYO7A
3 deafness, autosomal recessive 85 10.1 CDH23 MYO7A
4 deafness, autosomal recessive 83 10.0 CDH23 MYO7A
5 autosomal recessive nonsyndromic deafness 3 10.0 CDH23 MYO7A
6 dfnb1 9.9 MYO7A PCDH15
7 deafness, autosomal dominant 6 9.9 CDH23 MYO7A
8 inner ear disease 9.8 CDH23 MYO7A
9 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.7 CDH23 MYO7A
10 deafness, autosomal recessive 6 9.6 ADGRV1 MYO7A
11 usher syndrome, type ig 9.5 CDH23 MYO7A PCDH15
12 usher syndrome, type if 9.4 CDH23 MYO7A PCDH15
13 deafness, autosomal recessive 23 9.4 CDH23 MYO7A PCDH15
14 deafness, autosomal recessive 12 9.4 CDH23 MYO7A PCDH15
15 auditory system disease 9.4 CDH23 MYO7A PCDH15
16 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.4 CDH23 MYO7A PCDH15
17 sensorineural hearing loss 9.4 CDH23 MYO7A PCDH15
18 retinal disease 9.2 MYO7A PCDH15
19 bardet-biedl syndrome 9.2 CDH23 MYO7A PCDH15
20 usher syndrome, type id 8.5 ADGRV1 CDH23 MYO7A PCDH15
21 usher syndrome, type iid 8.5 ADGRV1 CDH23 MYO7A PCDH15
22 usher syndrome, type iic 8.5 ADGRV1 CDH23 MYO7A PCDH15
23 usher syndrome type 2 8.5 ADGRV1 CDH23 MYO7A PCDH15
24 usher syndrome, type i 8.5 ADGRV1 CDH23 MYO7A PCDH15
25 nonsyndromic deafness 8.4 ADGRV1 CDH23 MYO7A PCDH15
26 retinitis pigmentosa 8.3 ADGRV1 CDH23 MYO7A PCDH15
27 usher syndrome, type iiia 7.9 ADGRV1 CDH23 MT-TS2 MYO7A PCDH15

Graphical network of the top 20 diseases related to Retinitis Pigmentosa-Deafness Syndrome:



Diseases related to Retinitis Pigmentosa-Deafness Syndrome

Symptoms & Phenotypes for Retinitis Pigmentosa-Deafness Syndrome

Clinical features from OMIM:

500004

UMLS symptoms related to Retinitis Pigmentosa-Deafness Syndrome:


coughing, snoring, tinnitus, sore throat, vertigo/dizziness, equilibration disorder

MGI Mouse Phenotypes related to Retinitis Pigmentosa-Deafness Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.26 ADGRV1 CDH23 MYO7A PCDH15
2 vision/eye MP:0005391 8.92 ADGRV1 CDH23 MYO7A PCDH15

Drugs & Therapeutics for Retinitis Pigmentosa-Deafness Syndrome

Drugs for Retinitis Pigmentosa-Deafness Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Omega 3 Fatty Acid Nutraceutical

Interventional clinical trials:

(show all 13)
# Name Status NCT ID Phase Drugs
1 Study of UshStat in Patients With Retinitis Pigmentosa Associated With Usher Syndrome Type 1B Recruiting NCT01505062 Phase 1, Phase 2
2 Retinal Imaging of Subjects Implanted With Ciliary Neurotrophic Factor (CNTF)-Releasing Encapsulated Cell Implant for Early-stage Retinitis Pigmentosa Active, not recruiting NCT01530659 Phase 2 NT-501
3 A Study to Determine the Long-Term Safety, Tolerability and Biological Activity of UshStat® in Patients With Usher Syndrome Type 1B Enrolling by invitation NCT02065011 Phase 1, Phase 2 UshStat
4 Clinical and Genetic Examination of Usher Syndrome Patients' Cohort in Europe Unknown status NCT01954953
5 A Genetic Analysis of Usher Syndrome in Ashkenazi Jews Completed NCT00016471
6 Study of Usher Syndromes, Type 1 and Type 2 Completed NCT00001347
7 Molecular Genetics of Retinal Degenerations Completed NCT00231010
8 Rate of Progression in USH2A Related Retinal Degeneration Recruiting NCT03146078
9 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940
10 Stem Cell Ophthalmology Treatment Study II Recruiting NCT03011541 Not Applicable
11 Natural History and Genetic Studies of Usher Syndrome Active, not recruiting NCT00106743
12 Clinical and Genetic Testing of Patients With Usher Syndrome Active, not recruiting NCT03319524
13 Study of Dietary N-3 Fatty Acids in Patients With Retinitis Pigmentosa and Usher Syndrome Terminated NCT00004345

Search NIH Clinical Center for Retinitis Pigmentosa-Deafness Syndrome

Genetic Tests for Retinitis Pigmentosa-Deafness Syndrome

Genetic tests related to Retinitis Pigmentosa-Deafness Syndrome:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa-Deafness Syndrome 29

Anatomical Context for Retinitis Pigmentosa-Deafness Syndrome

MalaCards organs/tissues related to Retinitis Pigmentosa-Deafness Syndrome:

41
Retina, Testes, Bone

Publications for Retinitis Pigmentosa-Deafness Syndrome

Articles related to Retinitis Pigmentosa-Deafness Syndrome:

(show top 50) (show all 475)
# Title Authors Year
1
Identification of two novel compound heterozygous mutations of ADGRV1 in a Chinese family with Usher syndrome type IIC. ( 29883260 )
2018
2
Utility of whole exome sequencing in the diagnosis of Usher syndrome: Report of novel compound heterozygous MYO7A mutations. ( 29605349 )
2018
3
The Genetics of Usher Syndrome in the Israeli and Palestinian Populations. ( 29490346 )
2018
4
Antisense oligonucleotide therapy rescues disruptions in organization of exploratory movements associated with Usher syndrome type 1C in mice. ( 29037661 )
2018
5
Identification of a novel MYO7A mutation in Usher syndrome type 1. ( 29416772 )
2018
6
A novel homozygous variant of GPR98 causes usher syndrome type IIC in a consanguineous Chinese family by next generation sequencing. ( 29890953 )
2018
7
Targeted next generation sequencing identified a novel mutation in MYO7A causing Usher syndrome type 1 in an Iranian consanguineous pedigree. ( 29287847 )
2018
8
A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans. ( 29300381 )
2018
9
A Natural Occurring Mouse Model with Adgrv1 Mutation of Usher Syndrome 2C and Characterization of its Recombinant Inbred Strains. ( 29961073 )
2018
10
Identification of two novel pathogenic compound heterozygous MYO7A mutations in Usher syndrome by whole exome sequencing. ( 29287864 )
2018
11
Comprehensive Molecular Screening in Chinese Usher Syndrome Patients. ( 29625443 )
2018
12
SD-OCT imaging as a valuable tool to support molecular genetic diagnostics of Usher syndrome type 1. ( 29551606 )
2018
13
Severe retinal degeneration at an early age in Usher syndrome type 1B associated with homozygous splice site mutations in MYO7A gene. ( 29942180 )
2018
14
Characterization of the ternary Usher syndrome SANS/ush2a/whirlin protein complex. ( 28137943 )
2017
15
The Usher Syndrome Type IIIB Histidyl-tRNA Synthetase Mutation Confers Temperature Sensitivity. ( 28632987 )
2017
16
Targeted next generation sequencing in Italian patients with Usher syndrome: phenotype-genotype correlations. ( 29142287 )
2017
17
Visual Outcomes in Japanese Patients with Retinitis Pigmentosa and Usher Syndrome Caused by USH2A Mutations. ( 28678594 )
2017
18
Usher syndrome and late-onset psychosis. ( 28541731 )
2017
19
Usher syndrome type 1-associated cadherins shape the photoreceptor outer segment. ( 28495838 )
2017
20
Gene therapy approaches for prevention of retinal degeneration in Usher syndrome. ( 28054582 )
2017
21
Outcomes of Late Implantation in Usher Syndrome Patients. ( 28382120 )
2017
22
Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome. ( 28944237 )
2017
23
Rescue of peripheral vestibular function in Usher syndrome mice using a splice-switching antisense oligonucleotide. ( 28633508 )
2017
24
Delayed diagnosis of a patient with Usher syndrome 1C in a Louisiana Acadian family highlights the necessity of timely genetic testing for the diagnosis and management of congenital hearing loss. ( 29276601 )
2017
25
A homozygous MYO7A mutation associated to Usher syndrome and unilateral auditory neuropathy spectrum disorder. ( 28731162 )
2017
26
Prevalence of macular abnormalities assessed by optical coherence tomography in patients with Usher syndrome. ( 28704163 )
2017
27
Psychosocial well-being and health-related quality of life in a UK population with Usher syndrome. ( 28082366 )
2017
28
A novel mutation in the MYO7A gene is associated with Usher syndrome type 1 in a Chinese family. ( 28688563 )
2017
29
Adenocarcinoma of the Rectum in a 27-year-old Patient with Usher Syndrome : Is there a Genetic Correlation? ( 29364104 )
2017
30
Genetic analysis of a Chinese family with members affected with Usher syndrome type II and Waardenburg syndrome type IV. ( 29106856 )
2017
31
Gene Therapy Restores Balance and Auditory Functions in a Mouse Model of Usher Syndrome. ( 28254438 )
2017
32
Cochlear Implantation in Patients With Usher Syndrome Type IIa Increases Performance and Quality of Life. ( 28498263 )
2017
33
[Usher syndrome: about a case]. ( 28979619 )
2017
34
Gene therapy restores auditory and vestibular function in a mouse model of Usher syndrome type 1c. ( 28165476 )
2017
35
Modeling and Preventing Progressive Hearing Loss in Usher Syndrome III. ( 29044151 )
2017
36
Local gene therapy durably restores vestibular function in a mouse model of Usher syndrome type 1G. ( 28835534 )
2017
37
A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula. ( 28469144 )
2017
38
Usher syndrome Type I in an adult Nepalese male: a rare case report. ( 29634714 )
2017
39
An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients. ( 27460420 )
2016
40
Impact of the Usher syndrome on olfaction. ( 26620972 )
2016
41
The combination of vestibular impairment and congenital sensorineural hearing loss predisposes patients to ocular anomalies, including Usher syndrome. ( 27743452 )
2016
42
Genetic analysis of Tunisian families with Usher syndrome type 1: toward improving early molecular diagnosis. ( 27440999 )
2016
43
Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa. ( 26927203 )
2016
44
A small molecule mitigates hearing loss in a mouse model of Usher syndrome III. ( 27110679 )
2016
45
Assessing Photoreceptor Structure in Retinitis Pigmentosa and Usher Syndrome. ( 27145477 )
2016
46
CEP78 is mutated in a distinct type of Usher syndrome. ( 27627988 )
2016
47
Compound heterozygous MYO7A mutations segregating Usher syndrome type 2 in a Han family. ( 27729122 )
2016
48
Frequency of Usher syndrome type 1 in deaf children by massively parallel DNA sequencing. ( 26791358 )
2016
49
CLINICAL PRESENTATION AND DISEASE COURSE OF USHER SYNDROME BECAUSE OF MUTATIONS IN MYO7A OR USH2A. ( 27828912 )
2016
50
The Time Course of Deafness and Retinal Degeneration in a Kunming Mouse Model for Usher Syndrome. ( 27186975 )
2016

Variations for Retinitis Pigmentosa-Deafness Syndrome

ClinVar genetic disease variations for Retinitis Pigmentosa-Deafness Syndrome:

6
(show top 50) (show all 1007)
# Gene Variation Type Significance SNP ID Assembly Location
1 ADGRV1 NM_032119.3(ADGRV1): c.6901C> T (p.Gln2301Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121909762 GRCh37 Chromosome 5, 89986808: 89986808
2 ADGRV1 NM_032119.3(ADGRV1): c.6901C> T (p.Gln2301Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121909762 GRCh38 Chromosome 5, 90690991: 90690991
3 MT-TS2 m.12258C> A single nucleotide variant Pathogenic rs118203888 GRCh37 Chromosome MT, 12258: 12258
4 MT-TS2 m.12258C> A single nucleotide variant Pathogenic rs118203888 GRCh38 Chromosome MT, 12258: 12258
5 USH2A NM_206933.2(USH2A): c.4252-16_4252-13delCTTT deletion Benign/Likely benign rs372388546 GRCh37 Chromosome 1, 216363722: 216363725
6 USH2A NM_206933.2(USH2A): c.4252-16_4252-13delCTTT deletion Benign/Likely benign rs372388546 GRCh38 Chromosome 1, 216190380: 216190383
7 USH2A NM_007123.5(USH2A): c.3648C> T (p.Tyr1216=) single nucleotide variant Conflicting interpretations of pathogenicity rs147947402 GRCh37 Chromosome 1, 216373132: 216373132
8 USH2A NM_007123.5(USH2A): c.3648C> T (p.Tyr1216=) single nucleotide variant Conflicting interpretations of pathogenicity rs147947402 GRCh38 Chromosome 1, 216199790: 216199790
9 USH2A NM_007123.5(USH2A): c.3801G> A (p.Ala1267=) single nucleotide variant Conflicting interpretations of pathogenicity rs537863698 GRCh37 Chromosome 1, 216372979: 216372979
10 USH2A NM_007123.5(USH2A): c.3801G> A (p.Ala1267=) single nucleotide variant Conflicting interpretations of pathogenicity rs537863698 GRCh38 Chromosome 1, 216199637: 216199637
11 USH2A NM_007123.5(USH2A): c.3045C> G (p.His1015Gln) single nucleotide variant Uncertain significance rs541918040 GRCh37 Chromosome 1, 216390841: 216390841
12 USH2A NM_007123.5(USH2A): c.3045C> G (p.His1015Gln) single nucleotide variant Uncertain significance rs541918040 GRCh38 Chromosome 1, 216217499: 216217499
13 USH2A NM_206933.2(USH2A): c.2001C> T (p.His667=) single nucleotide variant Conflicting interpretations of pathogenicity rs142870255 GRCh37 Chromosome 1, 216424411: 216424411
14 USH2A NM_206933.2(USH2A): c.2001C> T (p.His667=) single nucleotide variant Conflicting interpretations of pathogenicity rs142870255 GRCh38 Chromosome 1, 216251069: 216251069
15 USH2A NM_007123.5(USH2A): c.1530C> T (p.Asp510=) single nucleotide variant Conflicting interpretations of pathogenicity rs200940197 GRCh37 Chromosome 1, 216496836: 216496836
16 USH2A NM_007123.5(USH2A): c.1530C> T (p.Asp510=) single nucleotide variant Conflicting interpretations of pathogenicity rs200940197 GRCh38 Chromosome 1, 216323494: 216323494
17 USH2A NM_007123.5(USH2A): c.485+12T> C single nucleotide variant Conflicting interpretations of pathogenicity rs201857884 GRCh37 Chromosome 1, 216595182: 216595182
18 USH2A NM_007123.5(USH2A): c.485+12T> C single nucleotide variant Conflicting interpretations of pathogenicity rs201857884 GRCh38 Chromosome 1, 216421840: 216421840
19 CLRN1 NM_174878.2(CLRN1): c.660C> T (p.Asp220=) single nucleotide variant Conflicting interpretations of pathogenicity rs148752352 GRCh37 Chromosome 3, 150645762: 150645762
20 CLRN1 NM_174878.2(CLRN1): c.660C> T (p.Asp220=) single nucleotide variant Conflicting interpretations of pathogenicity rs148752352 GRCh38 Chromosome 3, 150927975: 150927975
21 WHRN NM_015404.3(WHRN): c.955G> T (p.Gly319Trp) single nucleotide variant Uncertain significance rs143165834 GRCh37 Chromosome 9, 117228555: 117228555
22 WHRN NM_015404.3(WHRN): c.955G> T (p.Gly319Trp) single nucleotide variant Uncertain significance rs143165834 GRCh38 Chromosome 9, 114466275: 114466275
23 WHRN NM_015404.3(WHRN): c.328A> G (p.Thr110Ala) single nucleotide variant Uncertain significance rs572312301 GRCh37 Chromosome 9, 117266754: 117266754
24 WHRN NM_015404.3(WHRN): c.328A> G (p.Thr110Ala) single nucleotide variant Uncertain significance rs572312301 GRCh38 Chromosome 9, 114504474: 114504474
25 WHRN NM_015404.3(WHRN): c.1992G> A (p.Pro664=) single nucleotide variant Conflicting interpretations of pathogenicity rs142568702 GRCh37 Chromosome 9, 117168879: 117168879
26 WHRN NM_015404.3(WHRN): c.1992G> A (p.Pro664=) single nucleotide variant Conflicting interpretations of pathogenicity rs142568702 GRCh38 Chromosome 9, 114406599: 114406599
27 CDH23 NM_022124.5(CDH23): c.574G> C (p.Glu192Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs199514829 GRCh37 Chromosome 10, 73326643: 73326643
28 CDH23 NM_022124.5(CDH23): c.574G> C (p.Glu192Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs199514829 GRCh38 Chromosome 10, 71566886: 71566886
29 PCDH15 NM_033056.3(PCDH15): c.2884C> T (p.Arg962Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs201816080 GRCh37 Chromosome 10, 55721637: 55721637
30 PCDH15 NM_033056.3(PCDH15): c.2884C> T (p.Arg962Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs201816080 GRCh38 Chromosome 10, 53961877: 53961877
31 MYO7A NM_000260.3(MYO7A): c.5172C> G (p.Pro1724=) single nucleotide variant Conflicting interpretations of pathogenicity rs727505004 GRCh37 Chromosome 11, 76914108: 76914108
32 MYO7A NM_000260.3(MYO7A): c.5172C> G (p.Pro1724=) single nucleotide variant Conflicting interpretations of pathogenicity rs727505004 GRCh38 Chromosome 11, 77203063: 77203063
33 CDH23 NM_022124.5(CDH23): c.-1C> T single nucleotide variant Benign/Likely benign rs41281302 GRCh37 Chromosome 10, 73199588: 73199588
34 CDH23 NM_022124.5(CDH23): c.-1C> T single nucleotide variant Benign/Likely benign rs41281302 GRCh38 Chromosome 10, 71439831: 71439831
35 CDH23 NM_022124.5(CDH23): c.2112C> T (p.Tyr704=) single nucleotide variant Conflicting interpretations of pathogenicity rs565266663 GRCh37 Chromosome 10, 73450277: 73450277
36 CDH23 NM_022124.5(CDH23): c.2112C> T (p.Tyr704=) single nucleotide variant Conflicting interpretations of pathogenicity rs565266663 GRCh38 Chromosome 10, 71690520: 71690520
37 CDH23 NM_022124.5(CDH23): c.5067+15G> A single nucleotide variant Conflicting interpretations of pathogenicity rs367928867 GRCh37 Chromosome 10, 73537673: 73537673
38 CDH23 NM_022124.5(CDH23): c.5067+15G> A single nucleotide variant Conflicting interpretations of pathogenicity rs367928867 GRCh38 Chromosome 10, 71777916: 71777916
39 CDH23 NM_022124.5(CDH23): c.6713-8G> A single nucleotide variant Conflicting interpretations of pathogenicity rs369946986 GRCh37 Chromosome 10, 73556853: 73556853
40 CDH23 NM_022124.5(CDH23): c.6713-8G> A single nucleotide variant Conflicting interpretations of pathogenicity rs369946986 GRCh38 Chromosome 10, 71797096: 71797096
41 MYO7A NM_000260.3(MYO7A): c.4851C> T (p.Pro1617=) single nucleotide variant Conflicting interpretations of pathogenicity rs372535399 GRCh37 Chromosome 11, 76910862: 76910862
42 MYO7A NM_000260.3(MYO7A): c.4851C> T (p.Pro1617=) single nucleotide variant Conflicting interpretations of pathogenicity rs372535399 GRCh38 Chromosome 11, 77199817: 77199817
43 MYO7A NM_000260.3(MYO7A): c.6247G> A (p.Ala2083Thr) single nucleotide variant Uncertain significance rs41298759 GRCh37 Chromosome 11, 76922875: 76922875
44 MYO7A NM_000260.3(MYO7A): c.6247G> A (p.Ala2083Thr) single nucleotide variant Uncertain significance rs41298759 GRCh38 Chromosome 11, 77211830: 77211830
45 CDH23 NM_022124.5(CDH23): c.2954-14G> A single nucleotide variant Conflicting interpretations of pathogenicity rs191534381 GRCh37 Chromosome 10, 73466640: 73466640
46 CDH23 NM_022124.5(CDH23): c.2954-14G> A single nucleotide variant Conflicting interpretations of pathogenicity rs191534381 GRCh38 Chromosome 10, 71706883: 71706883
47 CDH23 NM_022124.5(CDH23): c.3580-13C> T single nucleotide variant Conflicting interpretations of pathogenicity rs150894638 GRCh37 Chromosome 10, 73490213: 73490213
48 CDH23 NM_022124.5(CDH23): c.3580-13C> T single nucleotide variant Conflicting interpretations of pathogenicity rs150894638 GRCh38 Chromosome 10, 71730456: 71730456
49 CDH23 NM_022124.5(CDH23): c.4589C> T (p.Pro1530Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs554938323 GRCh37 Chromosome 10, 73500679: 73500679
50 CDH23 NM_022124.5(CDH23): c.4589C> T (p.Pro1530Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs554938323 GRCh38 Chromosome 10, 71740922: 71740922

Expression for Retinitis Pigmentosa-Deafness Syndrome

Search GEO for disease gene expression data for Retinitis Pigmentosa-Deafness Syndrome.

Pathways for Retinitis Pigmentosa-Deafness Syndrome

GO Terms for Retinitis Pigmentosa-Deafness Syndrome

Cellular components related to Retinitis Pigmentosa-Deafness Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 synapse GO:0045202 9.33 ADGRV1 MYO7A PCDH15
2 photoreceptor outer segment GO:0001750 8.96 MYO7A PCDH15
3 stereocilium GO:0032420 8.92 ADGRV1 CDH23 MYO7A PCDH15

Biological processes related to Retinitis Pigmentosa-Deafness Syndrome according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.62 ADGRV1 CDH23 MYO7A PCDH15
2 photoreceptor cell maintenance GO:0045494 9.54 ADGRV1 CDH23 PCDH15
3 homophilic cell adhesion via plasma membrane adhesion molecules GO:0007156 9.49 CDH23 PCDH15
4 locomotory behavior GO:0007626 9.48 CDH23 PCDH15
5 inner ear development GO:0048839 9.46 MYO7A PCDH15
6 sensory perception of sound GO:0007605 9.46 ADGRV1 CDH23 MYO7A PCDH15
7 auditory receptor cell stereocilium organization GO:0060088 9.43 MYO7A PCDH15
8 inner ear receptor cell stereocilium organization GO:0060122 9.43 CDH23 MYO7A PCDH15
9 inner ear auditory receptor cell differentiation GO:0042491 9.4 MYO7A PCDH15
10 equilibrioception GO:0050957 9.13 CDH23 MYO7A PCDH15
11 sensory perception of light stimulus GO:0050953 8.92 ADGRV1 CDH23 MYO7A PCDH15

Molecular functions related to Retinitis Pigmentosa-Deafness Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 8.8 ADGRV1 CDH23 PCDH15

Sources for Retinitis Pigmentosa-Deafness Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
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44 MeSH
45 MESH via Orphanet
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49 NCI
50 NCIt
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54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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