MCID: RTN187
MIFTS: 45

Retinitis Pigmentosa-Deafness Syndrome

Categories: Ear diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa-Deafness Syndrome

MalaCards integrated aliases for Retinitis Pigmentosa-Deafness Syndrome:

Name: Retinitis Pigmentosa-Deafness Syndrome 58 12 54 30 6
Retinitis Pigmentosa 21, Formerly 58 54
Retinitis Pigmentosa 8, Formerly 58 54
Rp21, Formerly 58 54
Rp8, Formerly 58 54
Retinitis Pigmentosa 21, Formerly; Rp21, Formerly 58
Retinitis Pigmentosa 8, Formerly; Rp8, Formerly 58
Usher Syndrome 74

Classifications:



External Ids:

Disease Ontology 12 DOID:0110829
OMIM 58 500004
MeSH 45 D052245
NCIt 51 C126329
MedGen 43 C0271097

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 deafness, autosomal recessive 85, and has symptoms including tinnitus, snoring and sore throat. An important gene associated with Retinitis Pigmentosa-Deafness Syndrome is ADGRV1 (Adhesion G Protein-Coupled Receptor V1). 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 nervous system

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 33)
# Related Disease Score Top Affiliating Genes
1 usher syndrome 30.4 ADGRV1 CDH23 MYO7A PCDH15 USH2A WHRN
2 deafness, autosomal recessive 85 10.2 CDH23 MYO7A
3 deafness, autosomal recessive 83 10.2 CDH23 MYO7A
4 usher syndrome, type ic 10.1 CDH23 MYO7A
5 autosomal recessive nonsyndromic deafness 3 10.1 CDH23 MYO7A
6 dfnb1 10.1 MYO7A PCDH15
7 deafness, autosomal dominant 6 10.1 CDH23 MYO7A
8 inner ear disease 10.0 CDH23 MYO7A
9 yemenite deaf-blind hypopigmentation syndrome 10.0 MYO7A USH2A
10 deafness, autosomal recessive 10.0 PCDH15 WHRN
11 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 10.0 CDH23 MYO7A
12 deafness, autosomal dominant 13 10.0 MYO7A USH2A
13 usher syndrome, type ig 9.9 CDH23 MYO7A PCDH15
14 usher syndrome, type if 9.9 CDH23 MYO7A PCDH15
15 deafness, autosomal recessive 23 9.9 CDH23 MYO7A PCDH15
16 deafness, autosomal recessive 12 9.9 CDH23 MYO7A PCDH15
17 usher syndrome, type iia 9.9 USH2A WHRN
18 auditory system disease 9.9 CDH23 MYO7A PCDH15
19 autosomal genetic disease 9.9 MYO7A USH2A
20 bardet-biedl syndrome 9.8 CDH23 MYO7A PCDH15
21 retinal disease 9.7 MYO7A USH2A
22 deafness, autosomal recessive 6 9.6 ADGRV1 MYO7A USH2A
23 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.6 CDH23 MYO7A PCDH15 WHRN
24 branchiootic syndrome 1 9.5 CDH23 MYO7A USH2A WHRN
25 sensorineural hearing loss 9.3 CDH23 MYO7A PCDH15 USH2A WHRN
26 usher syndrome, type id 9.2 ADGRV1 CDH23 MYO7A PCDH15 USH2A
27 usher syndrome, type i 8.8 ADGRV1 CDH23 MYO7A PCDH15 USH2A WHRN
28 retinitis pigmentosa 8.8 ADGRV1 CDH23 MYO7A PCDH15 USH2A WHRN
29 usher syndrome, type iid 8.8 ADGRV1 CDH23 MYO7A PCDH15 USH2A WHRN
30 usher syndrome, type iic 8.8 ADGRV1 CDH23 MYO7A PCDH15 USH2A WHRN
31 usher syndrome type 2 8.8 ADGRV1 CDH23 MYO7A PCDH15 USH2A WHRN
32 nonsyndromic deafness 8.8 ADGRV1 CDH23 MYO7A PCDH15 USH2A WHRN
33 usher syndrome, type iiia 8.5 ADGRV1 CDH23 MT-TS2 MYO7A PCDH15 USH2A

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:


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

MGI Mouse Phenotypes related to Retinitis Pigmentosa-Deafness Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.63 ADGRV1 CDH23 MYO7A PCDH15 USH2A WHRN
2 nervous system MP:0003631 9.43 ADGRV1 CDH23 MYO7A PCDH15 USH2A WHRN
3 vision/eye MP:0005391 9.1 ADGRV1 CDH23 MYO7A PCDH15 USH2A WHRN

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

Interventional clinical trials:

(show all 16)
# Name Status NCT ID Phase Drugs
1 Study of SAR421869 in Patients With Retinitis Pigmentosa Associated With Usher Syndrome Type 1B Recruiting NCT01505062 Phase 1, Phase 2
2 Study to Evaluate Safety and Tolerability of QR-421a in Subjects With RP Due to Mutations in Exon 13 of the USH2A Gene Recruiting NCT03780257 Phase 1, Phase 2 QR-421a
3 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
4 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
5 Clinical and Genetic Examination of Usher Syndrome Patients' Cohort in Europe Unknown status NCT01954953
6 A Genetic Analysis of Usher Syndrome in Ashkenazi Jews Completed NCT00016471
7 Study of Usher Syndromes, Type 1 and Type 2 Completed NCT00001347
8 Clinical and Genetic Testing of Patients With Usher Syndrome Completed NCT03319524
9 Molecular Genetics of Retinal Degenerations Completed NCT00231010
10 Natural History Study in Subjects With Usher Syndrome Recruiting NCT03814499
11 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940
12 Stem Cell Ophthalmology Treatment Study II Recruiting NCT03011541 Not Applicable
13 Natural History and Genetic Studies of Usher Syndrome Active, not recruiting NCT00106743
14 Rate of Progression in USH2A Related Retinal Degeneration Active, not recruiting NCT03146078
15 Prospective Open Clinical and Genetic Study of Patients With Retinitis Pigmentosa Enrolling by invitation NCT03901391
16 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 30

Anatomical Context for Retinitis Pigmentosa-Deafness Syndrome

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

42
Retina, Testes, Bone, Brain

Publications for Retinitis Pigmentosa-Deafness Syndrome

Articles related to Retinitis Pigmentosa-Deafness Syndrome:

(show top 50) (show all 485)
# Title Authors Year
1
Identification of four novel mutations in MYO7A gene and their association with nonsyndromic deafness and Usher Syndrome 1B. ( 30826590 )
2019
2
Genetics of Usher Syndrome: New Insights From a Meta-analysis. ( 30531642 )
2019
3
Gene Transfer with AAV9-PHP.B Rescues Hearing in a Mouse Model of Usher Syndrome 3A and Transduces Hair Cells in a Non-human Primate. ( 30581889 )
2019
4
Novel compound heterozygous CDH23 variants in a patient with Usher syndrome type I. ( 30774966 )
2019
5
Unanticipated prognosis for a patient with type 2 Usher syndrome. ( 30796641 )
2019
6
Usher syndrome and non-syndromic deafness: Functions of different whirlin isoforms in the cochlea, vestibular organs, and retina. ( 30831381 )
2019
7
Evidence for impaired olfactory function and structural brain integrity in a disorder of ciliary function, Usher syndrome. ( 30897432 )
2019
8
Identification of two novel compound heterozygous mutations of ADGRV1 in a Chinese family with Usher syndrome type IIC. ( 29883260 )
2018
9
Utility of whole exome sequencing in the diagnosis of Usher syndrome: Report of novel compound heterozygous MYO7A mutations. ( 29605349 )
2018
10
The Genetics of Usher Syndrome in the Israeli and Palestinian Populations. ( 29490346 )
2018
11
Antisense oligonucleotide therapy rescues disruptions in organization of exploratory movements associated with Usher syndrome type 1C in mice. ( 29037661 )
2018
12
Identification of a novel MYO7A mutation in Usher syndrome type 1. ( 29416772 )
2018
13
A novel homozygous variant of GPR98 causes usher syndrome type IIC in a consanguineous Chinese family by next generation sequencing. ( 29890953 )
2018
14
Targeted next generation sequencing identified a novel mutation in MYO7A causing Usher syndrome type 1 in an Iranian consanguineous pedigree. ( 29287847 )
2018
15
A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans. ( 29300381 )
2018
16
A Natural Occurring Mouse Model with Adgrv1 Mutation of Usher Syndrome 2C and Characterization of its Recombinant Inbred Strains. ( 29961073 )
2018
17
Identification of two novel pathogenic compound heterozygous MYO7A mutations in Usher syndrome by whole exome sequencing. ( 29287864 )
2018
18
Comprehensive Molecular Screening in Chinese Usher Syndrome Patients. ( 29625443 )
2018
19
SD-OCT imaging as a valuable tool to support molecular genetic diagnostics of Usher syndrome type 1. ( 29551606 )
2018
20
Severe retinal degeneration at an early age in Usher syndrome type 1B associated with homozygous splice site mutations in MYO7A gene. ( 29942180 )
2018
21
Long-term visual outcomes and rehabilitation in Usher syndrome type II after retinal implant Argus II. ( 30134849 )
2018
22
Preferential Binding of Mg2+ Over Ca2+ to CIB2 Triggers an Allosteric Switch Impaired in Usher Syndrome Type 1J. ( 30174586 )
2018
23
Genetic screening of Russian Usher syndrome patients toward selection for gene therapy. ( 30358468 )
2018
24
Grxcr1 Promotes Hair Bundle Development by Destabilizing the Physical Interaction between Harmonin and Sans Usher Syndrome Proteins. ( 30380418 )
2018
25
Overcoming barriers to the involvement of deafblind people in conversations about research: recommendations from individuals with Usher syndrome. ( 30386632 )
2018
26
New compound heterozygous USH2A mutations in Usher syndrome. ( 30390381 )
2018
27
High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative. ( 30459346 )
2018
28
Generation of a human iPSC line, INMi002-A, carrying the most prevalent USH2A variant associated with Usher syndrome type 2. ( 30468996 )
2018
29
Ciliopathy: Usher Syndrome. ( 30578505 )
2018
30
Clarin-1 gene transfer rescues auditory synaptopathy in model of Usher syndrome. ( 29985171 )
2018
31
Usher Syndrome and Color Vision. ( 30012035 )
2018
32
Central Retina Functional Damage in Usher Syndrome Type 2: 22 Years of Focal Macular ERG Analysis in a Patient Population From Central and Southern Italy. ( 30073356 )
2018
33
Establishment of a human iPSC line, IISHDOi004-A, from a patient with Usher syndrome associated with the mutation c.2276G>T; p.Cys759Phe in the USH2A gene. ( 30096711 )
2018
34
Characterization of the ternary Usher syndrome SANS/ush2a/whirlin protein complex. ( 28137943 )
2017
35
The Usher Syndrome Type IIIB Histidyl-tRNA Synthetase Mutation Confers Temperature Sensitivity. ( 28632987 )
2017
36
Targeted next generation sequencing in Italian patients with Usher syndrome: phenotype-genotype correlations. ( 29142287 )
2017
37
Visual Outcomes in Japanese Patients with Retinitis Pigmentosa and Usher Syndrome Caused by USH2A Mutations. ( 28678594 )
2017
38
Usher syndrome and late-onset psychosis. ( 28541731 )
2017
39
Usher syndrome type 1-associated cadherins shape the photoreceptor outer segment. ( 28495838 )
2017
40
Gene therapy approaches for prevention of retinal degeneration in Usher syndrome. ( 28054582 )
2017
41
Outcomes of Late Implantation in Usher Syndrome Patients. ( 28382120 )
2017
42
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
43
Rescue of peripheral vestibular function in Usher syndrome mice using a splice-switching antisense oligonucleotide. ( 28633508 )
2017
44
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
45
A homozygous MYO7A mutation associated to Usher syndrome and unilateral auditory neuropathy spectrum disorder. ( 28731162 )
2017
46
Prevalence of macular abnormalities assessed by optical coherence tomography in patients with Usher syndrome. ( 28704163 )
2017
47
Psychosocial well-being and health-related quality of life in a UK population with Usher syndrome. ( 28082366 )
2017
48
A novel mutation in the MYO7A gene is associated with Usher syndrome type 1 in a Chinese family. ( 28688563 )
2017
49
Adenocarcinoma of the Rectum in a 27-year-old Patient with Usher Syndrome : Is there a Genetic Correlation? ( 29364104 )
2017
50
Genetic analysis of a Chinese family with members affected with Usher syndrome type II and Waardenburg syndrome type IV. ( 29106856 )
2017

Variations for Retinitis Pigmentosa-Deafness Syndrome

ClinVar genetic disease variations for Retinitis Pigmentosa-Deafness Syndrome:

6 (show top 50) (show all 1441)
# Gene Variation Type Significance SNP ID Assembly Location
1 USH2A NM_206933.2(USH2A): c.4252-16_4252-13delCTTT deletion Benign/Likely benign rs372388546 GRCh37 Chromosome 1, 216363722: 216363725
2 USH2A NM_206933.2(USH2A): c.4252-16_4252-13delCTTT deletion Benign/Likely benign rs372388546 GRCh38 Chromosome 1, 216190380: 216190383
3 USH2A NM_007123.5(USH2A): c.3648C> T (p.Tyr1216=) single nucleotide variant Conflicting interpretations of pathogenicity rs147947402 GRCh37 Chromosome 1, 216373132: 216373132
4 USH2A NM_007123.5(USH2A): c.3648C> T (p.Tyr1216=) single nucleotide variant Conflicting interpretations of pathogenicity rs147947402 GRCh38 Chromosome 1, 216199790: 216199790
5 USH2A NM_007123.5(USH2A): c.3801G> A (p.Ala1267=) single nucleotide variant Conflicting interpretations of pathogenicity rs537863698 GRCh37 Chromosome 1, 216372979: 216372979
6 USH2A NM_007123.5(USH2A): c.3801G> A (p.Ala1267=) single nucleotide variant Conflicting interpretations of pathogenicity rs537863698 GRCh38 Chromosome 1, 216199637: 216199637
7 USH2A NM_007123.5(USH2A): c.3045C> G (p.His1015Gln) single nucleotide variant Uncertain significance rs541918040 GRCh37 Chromosome 1, 216390841: 216390841
8 USH2A NM_007123.5(USH2A): c.3045C> G (p.His1015Gln) single nucleotide variant Uncertain significance rs541918040 GRCh38 Chromosome 1, 216217499: 216217499
9 USH2A NM_206933.2(USH2A): c.2001C> T (p.His667=) single nucleotide variant Conflicting interpretations of pathogenicity rs142870255 GRCh37 Chromosome 1, 216424411: 216424411
10 USH2A NM_206933.2(USH2A): c.2001C> T (p.His667=) single nucleotide variant Conflicting interpretations of pathogenicity rs142870255 GRCh38 Chromosome 1, 216251069: 216251069
11 USH2A NM_007123.5(USH2A): c.1530C> T (p.Asp510=) single nucleotide variant Conflicting interpretations of pathogenicity rs200940197 GRCh38 Chromosome 1, 216323494: 216323494
12 USH2A NM_007123.5(USH2A): c.1530C> T (p.Asp510=) single nucleotide variant Conflicting interpretations of pathogenicity rs200940197 GRCh37 Chromosome 1, 216496836: 216496836
13 USH2A NM_007123.5(USH2A): c.485+12T> C single nucleotide variant Conflicting interpretations of pathogenicity rs201857884 GRCh37 Chromosome 1, 216595182: 216595182
14 USH2A NM_007123.5(USH2A): c.485+12T> C single nucleotide variant Conflicting interpretations of pathogenicity rs201857884 GRCh38 Chromosome 1, 216421840: 216421840
15 CLRN1 NM_174878.2(CLRN1): c.660C> T (p.Asp220=) single nucleotide variant Conflicting interpretations of pathogenicity rs148752352 GRCh37 Chromosome 3, 150645762: 150645762
16 CLRN1 NM_174878.2(CLRN1): c.660C> T (p.Asp220=) single nucleotide variant Conflicting interpretations of pathogenicity rs148752352 GRCh38 Chromosome 3, 150927975: 150927975
17 WHRN NM_015404.3(WHRN): c.955G> T (p.Gly319Trp) single nucleotide variant Uncertain significance rs143165834 GRCh38 Chromosome 9, 114466275: 114466275
18 WHRN NM_015404.3(WHRN): c.955G> T (p.Gly319Trp) single nucleotide variant Uncertain significance rs143165834 GRCh37 Chromosome 9, 117228555: 117228555
19 WHRN NM_015404.3(WHRN): c.328A> G (p.Thr110Ala) single nucleotide variant Uncertain significance rs572312301 GRCh38 Chromosome 9, 114504474: 114504474
20 WHRN NM_015404.3(WHRN): c.328A> G (p.Thr110Ala) single nucleotide variant Uncertain significance rs572312301 GRCh37 Chromosome 9, 117266754: 117266754
21 WHRN NM_015404.3(WHRN): c.1992G> A (p.Pro664=) single nucleotide variant Conflicting interpretations of pathogenicity rs142568702 GRCh38 Chromosome 9, 114406599: 114406599
22 WHRN NM_015404.3(WHRN): c.1992G> A (p.Pro664=) single nucleotide variant Conflicting interpretations of pathogenicity rs142568702 GRCh37 Chromosome 9, 117168879: 117168879
23 CDH23 NM_022124.5(CDH23): c.574G> C (p.Glu192Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs199514829 GRCh37 Chromosome 10, 73326643: 73326643
24 CDH23 NM_022124.5(CDH23): c.574G> C (p.Glu192Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs199514829 GRCh38 Chromosome 10, 71566886: 71566886
25 PCDH15 NM_033056.3(PCDH15): c.2884C> T (p.Arg962Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs201816080 GRCh37 Chromosome 10, 55721637: 55721637
26 PCDH15 NM_033056.3(PCDH15): c.2884C> T (p.Arg962Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs201816080 GRCh38 Chromosome 10, 53961877: 53961877
27 MYO7A NM_000260.3(MYO7A): c.5172C> G (p.Pro1724=) single nucleotide variant Conflicting interpretations of pathogenicity rs727505004 GRCh38 Chromosome 11, 77203063: 77203063
28 MYO7A NM_000260.3(MYO7A): c.5172C> G (p.Pro1724=) single nucleotide variant Conflicting interpretations of pathogenicity rs727505004 GRCh37 Chromosome 11, 76914108: 76914108
29 CDH23 NM_022124.5(CDH23): c.-1C> T single nucleotide variant Benign/Likely benign rs41281302 GRCh37 Chromosome 10, 73199588: 73199588
30 CDH23 NM_022124.5(CDH23): c.-1C> T single nucleotide variant Benign/Likely benign rs41281302 GRCh38 Chromosome 10, 71439831: 71439831
31 CDH23 NM_022124.5(CDH23): c.2112C> T (p.Tyr704=) single nucleotide variant Conflicting interpretations of pathogenicity rs565266663 GRCh37 Chromosome 10, 73450277: 73450277
32 CDH23 NM_022124.5(CDH23): c.2112C> T (p.Tyr704=) single nucleotide variant Conflicting interpretations of pathogenicity rs565266663 GRCh38 Chromosome 10, 71690520: 71690520
33 CDH23 NM_022124.5(CDH23): c.5067+15G> A single nucleotide variant Conflicting interpretations of pathogenicity rs367928867 GRCh38 Chromosome 10, 71777916: 71777916
34 CDH23 NM_022124.5(CDH23): c.5067+15G> A single nucleotide variant Conflicting interpretations of pathogenicity rs367928867 GRCh37 Chromosome 10, 73537673: 73537673
35 CDH23 NM_022124.5(CDH23): c.6713-8G> A single nucleotide variant Conflicting interpretations of pathogenicity rs369946986 GRCh37 Chromosome 10, 73556853: 73556853
36 CDH23 NM_022124.5(CDH23): c.6713-8G> A single nucleotide variant Conflicting interpretations of pathogenicity rs369946986 GRCh38 Chromosome 10, 71797096: 71797096
37 MYO7A NM_000260.3(MYO7A): c.4851C> T (p.Pro1617=) single nucleotide variant Conflicting interpretations of pathogenicity rs372535399 GRCh37 Chromosome 11, 76910862: 76910862
38 MYO7A NM_000260.3(MYO7A): c.4851C> T (p.Pro1617=) single nucleotide variant Conflicting interpretations of pathogenicity rs372535399 GRCh38 Chromosome 11, 77199817: 77199817
39 MYO7A NM_000260.3(MYO7A): c.6247G> A (p.Ala2083Thr) single nucleotide variant Uncertain significance rs41298759 GRCh37 Chromosome 11, 76922875: 76922875
40 MYO7A NM_000260.3(MYO7A): c.6247G> A (p.Ala2083Thr) single nucleotide variant Uncertain significance rs41298759 GRCh38 Chromosome 11, 77211830: 77211830
41 CDH23 NM_022124.5(CDH23): c.2954-14G> A single nucleotide variant Conflicting interpretations of pathogenicity rs191534381 GRCh37 Chromosome 10, 73466640: 73466640
42 CDH23 NM_022124.5(CDH23): c.2954-14G> A single nucleotide variant Conflicting interpretations of pathogenicity rs191534381 GRCh38 Chromosome 10, 71706883: 71706883
43 CDH23 NM_022124.5(CDH23): c.3580-13C> T single nucleotide variant Conflicting interpretations of pathogenicity rs150894638 GRCh38 Chromosome 10, 71730456: 71730456
44 CDH23 NM_022124.5(CDH23): c.3580-13C> T single nucleotide variant Conflicting interpretations of pathogenicity rs150894638 GRCh37 Chromosome 10, 73490213: 73490213
45 CDH23 NM_022124.5(CDH23): c.4589C> T (p.Pro1530Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs554938323 GRCh38 Chromosome 10, 71740922: 71740922
46 CDH23 NM_022124.5(CDH23): c.4589C> T (p.Pro1530Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs554938323 GRCh37 Chromosome 10, 73500679: 73500679
47 CDH23 NM_022124.5(CDH23): c.4892C> T (p.Ala1631Val) single nucleotide variant Uncertain significance rs370762269 GRCh38 Chromosome 10, 71777726: 71777726
48 CDH23 NM_022124.5(CDH23): c.4892C> T (p.Ala1631Val) single nucleotide variant Uncertain significance rs370762269 GRCh37 Chromosome 10, 73537483: 73537483
49 CDH23 NM_022124.5(CDH23): c.5821-13C> T single nucleotide variant Conflicting interpretations of pathogenicity rs117317626 GRCh37 Chromosome 10, 73548684: 73548684
50 CDH23 NM_022124.5(CDH23): c.5821-13C> T single nucleotide variant Conflicting interpretations of pathogenicity rs117317626 GRCh38 Chromosome 10, 71788927: 71788927

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:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 synapse GO:0045202 9.65 ADGRV1 MYO7A PCDH15
2 ciliary basal body GO:0036064 9.49 USH2A WHRN
3 photoreceptor outer segment GO:0001750 9.46 MYO7A PCDH15
4 stereocilium bundle GO:0032421 9.43 USH2A WHRN
5 periciliary membrane compartment GO:1990075 9.4 USH2A WHRN
6 stereocilia ankle link GO:0002141 9.37 USH2A WHRN
7 photoreceptor inner segment GO:0001917 9.33 MYO7A USH2A WHRN
8 stereocilia ankle link complex GO:0002142 9.32 USH2A WHRN
9 USH2 complex GO:1990696 9.26 USH2A WHRN
10 photoreceptor connecting cilium GO:0032391 9.13 MYO7A USH2A WHRN
11 stereocilium GO:0032420 9.02 ADGRV1 CDH23 MYO7A PCDH15 WHRN

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.77 ADGRV1 CDH23 MYO7A PCDH15 USH2A
2 response to stimulus GO:0050896 9.71 ADGRV1 CDH23 USH2A
3 auditory receptor cell stereocilium organization GO:0060088 9.58 MYO7A PCDH15 WHRN
4 photoreceptor cell maintenance GO:0045494 9.56 ADGRV1 CDH23 PCDH15 USH2A
5 locomotory behavior GO:0007626 9.52 CDH23 PCDH15
6 inner ear development GO:0048839 9.51 MYO7A PCDH15
7 equilibrioception GO:0050957 9.5 CDH23 MYO7A PCDH15
8 establishment of protein localization GO:0045184 9.49 USH2A WHRN
9 inner ear auditory receptor cell differentiation GO:0042491 9.48 MYO7A PCDH15
10 inner ear receptor cell differentiation GO:0060113 9.46 MYO7A USH2A
11 inner ear receptor cell stereocilium organization GO:0060122 9.46 CDH23 MYO7A PCDH15 WHRN
12 maintenance of animal organ identity GO:0048496 9.43 ADGRV1 USH2A
13 sensory perception of sound GO:0007605 9.43 ADGRV1 CDH23 MYO7A PCDH15 USH2A WHRN
14 sensory perception of light stimulus GO:0050953 9.1 ADGRV1 CDH23 MYO7A PCDH15 USH2A WHRN

Sources for Retinitis Pigmentosa-Deafness Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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