MCID: RTN187
MIFTS: 47

Retinitis Pigmentosa-Deafness Syndrome

Categories: Ear diseases, Genetic diseases

Aliases & Classifications for Retinitis Pigmentosa-Deafness Syndrome

MalaCards integrated aliases for Retinitis Pigmentosa-Deafness Syndrome:

Name: Retinitis Pigmentosa-Deafness Syndrome 56 12 29 6 15
Retinitis Pigmentosa 21, Formerly; Rp21, Formerly 56
Retinitis Pigmentosa 8, Formerly; Rp8, Formerly 56
Retinitis Pigmentosa 21, Formerly 56
Retinitis Pigmentosa 8, Formerly 56
Rp21, Formerly 56
Usher Syndrome 71
Rp8, Formerly 56

Classifications:



External Ids:

Disease Ontology 12 DOID:0110829
OMIM 56 500004
MeSH 43 D052245
NCIt 49 C126329
MedGen 41 C0271097
UMLS 71 C0271097 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; rp21, formerly, is related to usher syndrome and drug-induced hearing loss, and has symptoms including tinnitus, snoring and sore throat. An important gene associated with Retinitis Pigmentosa-Deafness Syndrome is MT-TS2 (Mitochondrially Encoded TRNA-Ser (AGU/C) 2). The drug Omega 3 Fatty Acid has been mentioned in the context of this disorder. Affiliated tissues include retina, testes and eye, and related phenotypes are hearing/vestibular/ear and nervous system

More information 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 top 50) (show all 60)
# Related Disease Score Top Affiliating Genes
1 usher syndrome 30.4 WHRN USH2A PCDH15 MYO7A CDH23
2 drug-induced hearing loss 10.1 MYO7A CDH23
3 deafness, autosomal recessive 83 10.1 MYO7A CDH23
4 usher syndrome, type ik 10.1 PCDH15 CDH23
5 deafness, autosomal dominant 36 10.0 PCDH15 CDH23
6 dfnb1 10.0 PCDH15 MYO7A
7 deafness, autosomal recessive 16 10.0 PCDH15 CDH23
8 hodgkin's lymphoma, nodular sclerosis 10.0 MYO7A CDH23
9 usher syndrome, type ig 10.0 PCDH15 CDH23
10 deafness, autosomal dominant 17 10.0 PCDH15 MYO7A
11 deafness, autosomal dominant 40 10.0 PCDH15 CDH23
12 deafness, autosomal dominant 9 10.0 PCDH15 MYO7A
13 yemenite deaf-blind hypopigmentation syndrome 9.9 USH2A MYO7A
14 choroid disease 9.8 USH2A MYO7A
15 deafness, autosomal recessive 9.8 WHRN PCDH15
16 perrault syndrome 9.8 PCDH15 CDH23
17 usher syndrome, type iiib 9.8 WHRN MYO7A
18 deafness, autosomal recessive 48 9.8 WHRN MYO7A
19 baraitser-winter syndrome 9.8 WHRN CDH23
20 inner ear disease 9.8 MYO7A CDH23
21 autosomal recessive nonsyndromic deafness 36 9.8 WHRN PCDH15
22 vestibular disease 9.7 PCDH15 MYO7A CDH23
23 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.7 PCDH15 MYO7A CDH23
24 cone dystrophy 9.7 USH2A PCDH15
25 inherited retinal disorder 9.6 USH2A MYO7A CDH23
26 deafness, autosomal dominant 56 9.6 WHRN USH2A
27 autosomal genetic disease 9.6 USH2A MYO7A CDH23
28 bardet-biedl syndrome 1 9.6 WHRN MT-TS2
29 autosomal recessive nonsyndromic deafness 3 9.5 WHRN MYO7A CDH23
30 retinal degeneration 9.5 USH2A MYO7A CDH23
31 stargardt disease 9.4 USH2A MYO7A
32 deafness, autosomal recessive 30 9.4 WHRN PCDH15 MYO7A
33 usher syndrome, type iia 9.4 WHRN USH2A CDH23
34 retinal disease 9.3 USH2A PCDH15 MYO7A CDH23
35 usher syndrome, type ih 9.2 WHRN PCDH15 MYO7A CDH23
36 deafness, autosomal recessive 2 9.1 WHRN PCDH15 MYO7A CDH23
37 deafness, autosomal recessive 23 9.1 WHRN PCDH15 MYO7A CDH23
38 usher syndrome, type ic 9.1 WHRN PCDH15 MYO7A CDH23
39 deafness, autosomal dominant 11 9.1 WHRN PCDH15 MYO7A CDH23
40 autosomal recessive nonsyndromic deafness 9.1 WHRN PCDH15 MYO7A CDH23
41 leber congenital amaurosis 9.1 WHRN USH2A MYO7A
42 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.1 WHRN PCDH15 MYO7A CDH23
43 branchiootic syndrome 1 9.1 WHRN USH2A MYO7A CDH23
44 usher syndrome, type i 8.7 WHRN USH2A PCDH15 MYO7A CDH23
45 usher syndrome, type ij 8.7 WHRN USH2A PCDH15 MYO7A CDH23
46 usher syndrome, type iid 8.7 WHRN USH2A PCDH15 MYO7A CDH23
47 usher syndrome, type if 8.7 WHRN USH2A PCDH15 MYO7A CDH23
48 usher syndrome, type iic 8.7 WHRN USH2A PCDH15 MYO7A CDH23
49 usher syndrome, type id 8.7 WHRN USH2A PCDH15 MYO7A CDH23
50 deafness, autosomal recessive 12 8.7 WHRN USH2A PCDH15 MYO7A CDH23

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.55 CDH23 MYO7A PCDH15 USH2A WHRN
2 nervous system MP:0003631 9.35 CDH23 MYO7A PCDH15 USH2A WHRN
3 vision/eye MP:0005391 9.02 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 14)
# Name Status NCT ID Phase Drugs
1 An Open-Label Study to Determine the Long-Term Safety, Tolerability and Biological Activity of UshStat® in Patients With Usher Syndrome Type 1B Active, not recruiting NCT02065011 Phase 1, Phase 2 UshStat
2 Photoreceptor Structure in A Phase 2 Study of Encapsulated Human NTC-201 Cell Implants Releasing Ciliary Neurotrophic Factor (CNTF) for Participants With Retinitis Pigmentosa Using Rates of Change in Cone Spacing and Density Active, not recruiting NCT01530659 Phase 2 NT-501
3 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
4 European Research Projects on Rare Diseases Driven by Young Investigators Unknown status NCT01954953
5 A Genetic Analysis of Usher Syndrome in Ashkenazi Jews Completed NCT00016471
6 Usher Syndrome - Clinical and Molecular Studies Completed NCT00001347
7 Prospective Open Label Clinical and Genetic Testing of Patients With Usher Syndrome Completed NCT03319524
8 Natural History and Genetic Studies of Usher Syndrome Completed NCT00106743
9 Molecular Genetics of Retinal Degenerations Completed NCT00231010
10 A Multicentre Longitudinal, Observational Natural History Study to Evaluate Disease Progression in Subjects With Usher Syndrome Type 1B (USH1B) Recruiting NCT03814499
11 Evaluation of Speech and Non-speech Percept (Sound) Recognition in Cochlear Implant (CI) Patients Using an Audio Synthesize Recruiting NCT03661970
12 Rate of Progression in USH2A-related Retinal Degeneration Active, not recruiting NCT03146078
13 Genetic Analyses of Nonsyndromic and Syndromic Deafness in Pakistan Active, not recruiting NCT00341874
14 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:

40
Retina, Testes, Eye, Bone, Brain, Skin, Cortex

Publications for Retinitis Pigmentosa-Deafness Syndrome

Articles related to Retinitis Pigmentosa-Deafness Syndrome:

(show top 50) (show all 1013)
# Title Authors PMID Year
1
Retinitis pigmentosa and progressive sensorineural hearing loss caused by a C12258A mutation in the mitochondrial MTTS2 gene. 61 56 6
10090882 1999
2
Mitochondrial diabetes: investigation and identification of a novel mutation. 6
9792552 1998
3
Clinical and molecular genetic characterisation of a family segregating autosomal dominant retinitis pigmentosa and sensorineural deafness. 56
9135384 1997
4
Exclusion of the involvement of all known retinitis pigmentosa loci in the disease present in a family of Irish origin provides evidence for a sixth autosomal dominant locus (RP8). 56
8364569 1993
5
Evidence for further genetic heterogeneity in autosomal dominant retinitis pigmentosa. 56
8432539 1993
6
Genome Editing in Patient iPSCs Corrects the Most Prevalent USH2A Mutations and Reveals Intriguing Mutant mRNA Expression Profiles. 61
31909088 2020
7
New compound heterozygous USH2A mutations in Usher syndrome. 61
30390381 2020
8
Clarin-1 expression in adult mouse and human retina highlights a role of Müller glia in Usher syndrome. 61
31625146 2020
9
Extending the spectrum of CLRN1- and ABCA4-associated inherited retinal dystrophies caused by novel and recurrent variants using exome sequencing. 61
31968401 2020
10
Genetic Testing for Congenital Bilateral Hearing Loss in the Context of Targeted Cytomegalovirus Screening. 61
31985074 2020
11
Clinical and preclinical therapeutic outcome metrics for USH2A-related disease. 61
31998945 2020
12
Application of targeted panel sequencing and whole exome sequencing for 76 Chinese families with retinitis pigmentosa. 61
31960602 2020
13
Identification of 13 novel USH2A mutations in Chinese retinitis pigmentosa and Usher syndrome patients by targeted next-generation sequencing. 61
31904091 2020
14
Lack of PDZD7 long isoform disrupts ankle-link complex and causes hearing loss in mice. 61
31914662 2020
15
Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss and reduced male fertility. 61
31999394 2020
16
ARTEFACTUALLY DAMPENED FLASH STIMULUS VISUAL EVOKED RESPONSES IN A SILICONE OIL-FILLED EYE. 61
28827497 2020
17
Clinical and Haplotypic Variability of Slovenian USH2A Patients Homozygous for the c. 11864G>A Nonsense Mutation. 61
31817543 2019
18
A novel splice-site variant in CDH23 in a patient with Usher syndrome type 1. 61
31755791 2019
19
Identification of whirlin domains interacting with espin: A study of the mechanism of Usher syndrome type II. 61
31638198 2019
20
Life strategies of people with deafblindness due to Usher syndrome type 2a - a qualitative study. 61
31470768 2019
21
Expanding the clinical and genetic spectrum of Heimler syndrome. 61
31831025 2019
22
Next Generation Sequencing Identifies Five Novel Mutations in Lebanese Patients with Bardet-Biedl and Usher Syndromes. 61
31888296 2019
23
Ataluren for the Treatment of Usher Syndrome 2A Caused by Nonsense Mutations. 61
31842393 2019
24
[Research promotion by a patient organization : The example of PRO RETINA and it's research foundation]. 61
31848680 2019
25
Preimplantation genetic testing for a family with usher syndrome through targeted sequencing and haplotype analysis. 61
31699113 2019
26
Expanding the Genetic Landscape of Usher-Like Phenotypes. 61
31725169 2019
27
Severe or Profound Sensorineural Hearing Loss Caused by Novel USH2A Variants in Korea: Potential Genotype-Phenotype Correlation. 61
31674169 2019
28
Full-field electroretinography, visual acuity and visual fields in Usher syndrome: a multicentre European study. 61
31267413 2019
29
GJB2 and GJB6 Mutations in Hereditary Recessive Non-Syndromic Hearing Impairment in Cameroon. 61
31731535 2019
30
Myosin VII, USH1C, and ANKS4B or USH1G Together Form Condensed Molecular Assembly via Liquid-Liquid Phase Separation. 61
31644917 2019
31
Next generation sequencing study in a cohort of Italian patients with syndromic hearing loss. 61
31387071 2019
32
Aberrant Splicing Events Associated to CDH23 Noncanonical Splice Site Mutations in a Proband with Atypical Usher Syndrome 1. 61
31546658 2019
33
Novel USH1G homozygous variant underlying USH2-like phenotype of Usher syndrome. 61
31566003 2019
34
PHENOTYPIC CHARACTERISTICS OF ROD-CONE DYSTROPHY ASSOCIATED WITH MYO7A MUTATIONS IN A LARGE FRENCH COHORT. 61
31479088 2019
35
Identification of a Potential Founder Effect of a Novel PDZD7 Variant Involved in Moderate-to-Severe Sensorineural Hearing Loss in Koreans. 61
31454969 2019
36
Involvement of the Areae Compositae of the Heart in Endemic Pemphigus Foliaceus. 61
31384490 2019
37
Retinal findings in pediatric patients with Usher syndrome Type 1 due to mutations in MYO7A gene. 61
31320737 2019
38
Novel compound heterozygous mutations in OCA2 gene associated with non-syndromic oculocutaneous albinism in a Chinese Han patient: a case report. 61
31345173 2019
39
A novel ABHD12 nonsense variant in Usher syndrome type 3 family with genotype-phenotype spectrum review. 61
30974196 2019
40
Detecting novel mutations and combined Klinefelter syndrome in Usher syndrome cases. 61
31035849 2019
41
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. 61
30581889 2019
42
Unconventional secretory pathway activation restores hair cell mechanotransduction in an USH3A model. 61
31097578 2019
43
Identification of four novel mutations in MYO7A gene and their association with nonsyndromic deafness and Usher Syndrome 1B. 61
30826590 2019
44
Novel Usher syndrome pathogenic variants identified in cases with hearing and vision loss. 61
31046701 2019
45
Usher syndrome in a patient with Ellis-van Creveld syndrome. 61
30991842 2019
46
Whole exome sequencing identifies novel USH2A mutations and confirms Usher syndrome 2 diagnosis in Chinese retinitis pigmentosa patients. 61
30948794 2019
47
The first deaf-blind patient in Russia with Argus II retinal prosthesis system: what he sees and why. 61
30620937 2019
48
Usher syndrome and non-syndromic deafness: Functions of different whirlin isoforms in the cochlea, vestibular organs, and retina. 61
30831381 2019
49
Generation of two induced pluripotent stem cell lines from a patient with compound heterozygous mutations in the USH2A gene. 61
30904819 2019
50
Psychosocial determinants associated with quality of life in people with usher syndrome. A scoping review. 61
30974979 2019

Variations for Retinitis Pigmentosa-Deafness Syndrome

ClinVar genetic disease variations for Retinitis Pigmentosa-Deafness Syndrome:

6 (show top 50) (show all 727) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MT-TS2 m.12258C>ASNV Pathogenic 9560 rs118203888 MT:12258-12258 MT:12258-12258
2 CDH23 NM_022124.6(CDH23):c.5442C>T (p.Ile1814=)SNV Conflicting interpretations of pathogenicity 227229 rs373768157 10:73544117-73544117 10:71784360-71784360
3 CDH23 NM_022124.6(CDH23):c.6138C>T (p.Ile2046=)SNV Conflicting interpretations of pathogenicity 227232 rs568741210 10:73550977-73550977 10:71791220-71791220
4 USH1C NM_153676.4(USH1C):c.921G>A (p.Ala307=)SNV Conflicting interpretations of pathogenicity 228197 rs778447994 11:17544429-17544429 11:17522882-17522882
5 CDH23 NM_022124.6(CDH23):c.1595C>T (p.Thr532Met)SNV Conflicting interpretations of pathogenicity 194671 rs201297042 10:73437293-73437293 10:71677536-71677536
6 CDH23 NM_022124.6(CDH23):c.1803C>G (p.Val601=)SNV Conflicting interpretations of pathogenicity 194784 rs201024982 10:73439194-73439194 10:71679437-71679437
7 WHRN NM_015404.4(WHRN):c.2322C>T (p.Ser774=)SNV Conflicting interpretations of pathogenicity 227292 rs55966714 9:117166272-117166272 9:114403992-114403992
8 WHRN NM_015404.4(WHRN):c.1887G>A (p.Pro629=)SNV Conflicting interpretations of pathogenicity 227290 rs143443833 9:117168984-117168984 9:114406704-114406704
9 PCDH15 NM_033056.4(PCDH15):c.4812G>T (p.Arg1604Ser)SNV Conflicting interpretations of pathogenicity 227009 rs148718874 10:55582674-55582674 10:53822914-53822914
10 CDH23 NM_022124.6(CDH23):c.2711C>T (p.Pro904Leu)SNV Conflicting interpretations of pathogenicity 227221 rs199894395 10:73462429-73462429 10:71702672-71702672
11 HARS1 NM_002109.6(HARS1):c.1312-8C>TSNV Conflicting interpretations of pathogenicity 227423 rs772505507 5:140054418-140054418 5:140674833-140674833
12 MYO7A NM_000260.4(MYO7A):c.2283G>A (p.Arg761=)SNV Conflicting interpretations of pathogenicity 43179 rs111033229 11:76890091-76890091 11:77179045-77179045
13 MYO7A NM_000260.4(MYO7A):c.3750+9G>ASNV Conflicting interpretations of pathogenicity 43222 rs111033252 11:76901193-76901193 11:77190148-77190148
14 USH2A NM_206933.3(USH2A):c.2001C>T (p.His667=)SNV Conflicting interpretations of pathogenicity 178582 rs142870255 1:216424411-216424411 1:216251069-216251069
15 USH2A NM_206933.3(USH2A):c.1530C>T (p.Asp510=)SNV Conflicting interpretations of pathogenicity 178992 rs200940197 1:216496836-216496836 1:216323494-216323494
16 USH2A NM_206933.3(USH2A):c.485+12T>CSNV Conflicting interpretations of pathogenicity 166533 rs201857884 1:216595182-216595182 1:216421840-216421840
17 CLRN1 NM_001195794.1(CLRN1):c.699C>T (p.Asp233=)SNV Conflicting interpretations of pathogenicity 178318 rs148752352 3:150645762-150645762 3:150927975-150927975
18 WHRN NM_015404.4(WHRN):c.1992G>A (p.Pro664=)SNV Conflicting interpretations of pathogenicity 178336 rs142568702 9:117168879-117168879 9:114406599-114406599
19 CDH23 NM_022124.6(CDH23):c.574G>C (p.Glu192Gln)SNV Conflicting interpretations of pathogenicity 178295 rs199514829 10:73326643-73326643 10:71566886-71566886
20 PCDH15 NM_033056.4(PCDH15):c.2884C>T (p.Arg962Cys)SNV Conflicting interpretations of pathogenicity 164914 rs201816080 10:55721637-55721637 10:53961877-53961877
21 MYO7A NM_000260.4(MYO7A):c.5172C>G (p.Pro1724=)SNV Conflicting interpretations of pathogenicity 179630 rs727505004 11:76914108-76914108 11:77203063-77203063
22 CDH23 NM_022124.6(CDH23):c.2954-14G>ASNV Conflicting interpretations of pathogenicity 162900 rs191534381 10:73466640-73466640 10:71706883-71706883
23 CDH23 NM_022124.6(CDH23):c.3580-13C>TSNV Conflicting interpretations of pathogenicity 178303 rs150894638 10:73490213-73490213 10:71730456-71730456
24 CDH23 NM_022124.6(CDH23):c.4589C>T (p.Pro1530Leu)SNV Conflicting interpretations of pathogenicity 179345 rs554938323 10:73500679-73500679 10:71740922-71740922
25 CDH23 NM_022124.6(CDH23):c.4892C>T (p.Ala1631Val)SNV Conflicting interpretations of pathogenicity 178305 rs370762269 10:73537483-73537483 10:71777726-71777726
26 CDH23 NM_022124.6(CDH23):c.5821-13C>TSNV Conflicting interpretations of pathogenicity 178308 rs117317626 10:73548684-73548684 10:71788927-71788927
27 CDH23 NM_022124.6(CDH23):c.2112C>T (p.Tyr704=)SNV Conflicting interpretations of pathogenicity 162892 rs565266663 10:73450277-73450277 10:71690520-71690520
28 CDH23 NM_022124.6(CDH23):c.5067+15G>ASNV Conflicting interpretations of pathogenicity 178306 rs367928867 10:73537673-73537673 10:71777916-71777916
29 CDH23 NM_022124.6(CDH23):c.6713-8G>ASNV Conflicting interpretations of pathogenicity 162933 rs369946986 10:73556853-73556853 10:71797096-71797096
30 MYO7A NM_000260.4(MYO7A):c.4851C>T (p.Pro1617=)SNV Conflicting interpretations of pathogenicity 178488 rs372535399 11:76910862-76910862 11:77199817-77199817
31 CDH23 , PSAP NM_022124.6(CDH23):c.9629T>C (p.Ile3210Thr)SNV Conflicting interpretations of pathogenicity 178315 rs144688588 10:73572643-73572643 10:71812886-71812886
32 CDH23 , PSAP NM_022124.6(CDH23):c.10026C>T (p.Asp3342=)SNV Conflicting interpretations of pathogenicity 178317 rs377118941 10:73574996-73574996 10:71815239-71815239
33 USH1C NM_153676.4(USH1C):c.114C>T (p.Asp38=)SNV Conflicting interpretations of pathogenicity 178644 rs137962152 11:17553080-17553080 11:17531533-17531533
34 USH1C NM_153676.4(USH1C):c.1086-13G>TSNV Conflicting interpretations of pathogenicity 166388 rs200490320 11:17542554-17542554 11:17521007-17521007
35 USH1G NM_173477.5(USH1G):c.1152C>T (p.Asp384=)SNV Conflicting interpretations of pathogenicity 178968 rs569032124 17:72915779-72915779 17:74919684-74919684
36 USH2A NM_206933.3(USH2A):c.3648C>T (p.Tyr1216=)SNV Conflicting interpretations of pathogenicity 166509 rs147947402 1:216373132-216373132 1:216199790-216199790
37 USH2A NM_007123.5(USH2A):c.3801G>A (p.Ala1267=)SNV Conflicting interpretations of pathogenicity 166508 rs537863698 1:216372979-216372979 1:216199637-216199637
38 CDH23 NM_022124.6(CDH23):c.3022G>A (p.Val1008Met)SNV Conflicting interpretations of pathogenicity 166811 rs201053044 10:73466722-73466722 10:71706965-71706965
39 MYO7A NM_000260.4(MYO7A):c.1554+7C>TSNV Conflicting interpretations of pathogenicity 178480 rs150114658 11:76873383-76873383 11:77162337-77162337
40 CDH23 NM_022124.6(CDH23):c.6442G>A (p.Asp2148Asn)SNV Conflicting interpretations of pathogenicity 4922 rs111033271 10:73553127-73553127 10:71793370-71793370
41 MYO7A NM_000260.4(MYO7A):c.5227C>T (p.Arg1743Trp)SNV Conflicting interpretations of pathogenicity 43278 rs111033287 11:76914163-76914163 11:77203118-77203118
42 MYO7A NM_000260.4(MYO7A):c.5866G>A (p.Val1956Ile)SNV Conflicting interpretations of pathogenicity 43305 rs142293185 11:76919484-76919484 11:77208439-77208439
43 MYO7A NM_000260.4(MYO7A):c.5904C>T (p.His1968=)SNV Conflicting interpretations of pathogenicity 43309 rs41298753 11:76919522-76919522 11:77208477-77208477
44 CDH23 NM_022124.6(CDH23):c.2970C>T (p.Asp990=)SNV Conflicting interpretations of pathogenicity 44110 rs56216952 10:73466670-73466670 10:71706913-71706913
45 CDH23 NM_022124.6(CDH23):c.1134+13A>GSNV Conflicting interpretations of pathogenicity 44115 rs7903502 10:73377163-73377163 10:71617406-71617406
46 USH1C NM_153676.4(USH1C):c.1211-1134G>ASNV Conflicting interpretations of pathogenicity 45426 rs115931035 11:17538971-17538971 11:17517424-17517424
47 USH1C NM_153676.4(USH1C):c.1211-1129G>ASNV Conflicting interpretations of pathogenicity 45427 rs35188020 11:17538966-17538966 11:17517419-17517419
48 WHRN NM_015404.4(WHRN):c.1365T>C (p.Ser455=)SNV Conflicting interpretations of pathogenicity 45652 rs111033459 9:117186665-117186665 9:114424385-114424385
49 WHRN NM_015404.4(WHRN):c.1515G>A (p.Ala505=)SNV Conflicting interpretations of pathogenicity 45655 rs34252199 9:117185705-117185705 9:114423425-114423425
50 WHRN NM_015404.4(WHRN):c.1608C>G (p.Thr536=)SNV Conflicting interpretations of pathogenicity 45658 rs139337135 9:117185612-117185612 9:114423332-114423332

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 ciliary basal body GO:0036064 9.48 WHRN USH2A
2 photoreceptor outer segment GO:0001750 9.46 PCDH15 MYO7A
3 stereocilium bundle GO:0032421 9.43 WHRN USH2A
4 periciliary membrane compartment GO:1990075 9.4 WHRN USH2A
5 stereocilia ankle link complex GO:0002142 9.37 WHRN USH2A
6 photoreceptor inner segment GO:0001917 9.33 WHRN USH2A MYO7A
7 stereocilia ankle link GO:0002141 9.32 WHRN USH2A
8 USH2 complex GO:1990696 9.26 WHRN USH2A
9 photoreceptor connecting cilium GO:0032391 9.13 WHRN USH2A MYO7A
10 stereocilium GO:0032420 8.92 WHRN PCDH15 MYO7A CDH23

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.67 USH2A PCDH15 MYO7A CDH23
2 photoreceptor cell maintenance GO:0045494 9.58 USH2A PCDH15 CDH23
3 sensory perception of sound GO:0007605 9.55 WHRN USH2A PCDH15 MYO7A CDH23
4 locomotory behavior GO:0007626 9.52 PCDH15 CDH23
5 inner ear development GO:0048839 9.51 PCDH15 MYO7A
6 auditory receptor cell stereocilium organization GO:0060088 9.5 WHRN PCDH15 MYO7A
7 establishment of protein localization GO:0045184 9.49 WHRN USH2A
8 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.48 WHRN PCDH15
9 inner ear receptor cell differentiation GO:0060113 9.46 USH2A MYO7A
10 inner ear auditory receptor cell differentiation GO:0042491 9.43 PCDH15 MYO7A
11 equilibrioception GO:0050957 9.43 PCDH15 MYO7A CDH23
12 inner ear receptor cell stereocilium organization GO:0060122 9.26 WHRN PCDH15 MYO7A CDH23
13 sensory perception of light stimulus GO:0050953 9.02 WHRN USH2A PCDH15 MYO7A CDH23

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

# Name GO ID Score Top Affiliating Genes
1 protein N-terminus binding GO:0047485 8.96 PCDH15 MYO7A
2 protein homodimerization activity GO:0042803 8.92 WHRN USH2A MYO7A CDH23

Sources for Retinitis Pigmentosa-Deafness Syndrome

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
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32 ICD10
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
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70 Tocris
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72 UMLS via Orphanet
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