MCID: RTN187
MIFTS: 42

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 krabbe disease, 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), and among its related pathways/superpathways is tRNA Aminoacylation. The drug Omega 3 Fatty Acid has been mentioned in the context of this disorder. Affiliated tissues include retina, testes and eye, and related phenotype is hearing/vestibular/ear.

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 all 36)
# Related Disease Score Top Affiliating Genes
1 usher syndrome 30.8 WHRN PSAP HARS1 CDH23
2 krabbe disease 10.0 PSAP CDH23
3 krabbe disease, atypical, due to saposin a deficiency 10.0 PSAP CDH23
4 gaucher disease, atypical, due to saposin c deficiency 10.0 PSAP CDH23
5 combined saposin deficiency 9.9 PSAP CDH23
6 usher syndrome, type i 9.8 WHRN CDH23
7 usher syndrome, type ih 9.8 WHRN CDH23
8 autosomal recessive nonsyndromic deafness 9.8 WHRN CDH23
9 autosomal recessive nonsyndromic deafness 3 9.8 WHRN CDH23
10 autosomal recessive nonsyndromic deafness 36 9.8 WHRN CDH23
11 usher syndrome, type ij 9.8 WHRN CDH23
12 deafness, autosomal recessive 86 9.8 WHRN CDH23
13 usher syndrome, type iid 9.8 WHRN CDH23
14 usher syndrome, type ic 9.8 WHRN CDH23
15 deafness, autosomal recessive 2 9.8 WHRN CDH23
16 deafness, autosomal recessive 23 9.7 WHRN CDH23
17 deafness, autosomal dominant 11 9.7 WHRN CDH23
18 usher syndrome, type ig 9.7 WHRN CDH23
19 usher syndrome, type iiib 9.7 WHRN HARS1
20 usher syndrome, type if 9.7 WHRN CDH23
21 usher syndrome, type iia 9.7 WHRN CDH23
22 metachromatic leukodystrophy 9.7 PSAP CDH23
23 usher syndrome, type iic 9.7 WHRN CDH23
24 usher syndrome, type id 9.7 WHRN CDH23
25 digenic disease 9.7 WHRN CDH23
26 branchiootic syndrome 1 9.7 WHRN CDH23
27 auditory system disease 9.6 WHRN CDH23
28 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.6 WHRN CDH23
29 autosomal dominant nonsyndromic deafness 9.5 WHRN CDH23
30 rare genetic deafness 9.4 WHRN CDH23
31 usher syndrome type 2 9.4 WHRN HARS1 CDH23
32 deafness, autosomal recessive 12 9.3 WHRN PSAP CDH23
33 eye degenerative disease 9.3 WHRN CDH23
34 sensorineural hearing loss 9.3 WHRN HARS1 CDH23
35 usher syndrome, type iiia 9.0 WHRN MT-TS2 HARS1 CDH23
36 retinitis pigmentosa 8.6 WHRN PSAP MT-TS2 HARS1 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 8.92 CDH23 HARS1 PSAP 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 15)
# 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 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 Safety and Efficacy of NPI-001 Tablets Versus Placebo for Treatment of Retinitis Pigmentosa Associated With Usher Syndrome Not yet recruiting NCT04355689 Phase 1, Phase 2 NPI-001
4 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
5 European Research Projects on Rare Diseases Driven by Young Investigators Unknown status NCT01954953
6 A Genetic Analysis of Usher Syndrome in Ashkenazi Jews Completed NCT00016471
7 Usher Syndrome - Clinical and Molecular Studies Completed NCT00001347
8 Prospective Open Label Clinical and Genetic Testing of Patients With Usher Syndrome Completed NCT03319524
9 Natural History and Genetic Studies of Usher Syndrome Completed NCT00106743
10 Molecular Genetics of Retinal Degenerations Completed NCT00231010
11 A Multicentre Longitudinal, Observational Natural History Study to Evaluate Disease Progression in Subjects With Usher Syndrome Type 1B (USH1B) Recruiting NCT03814499
12 Evaluation of Speech and Non-speech Percept (Sound) Recognition in Cochlear Implant (CI) Patients Using an Audio Synthesize Recruiting NCT03661970
13 Genetic Analyses of Nonsyndromic and Syndromic Deafness in Pakistan Recruiting NCT00341874
14 Rate of Progression in USH2A-related Retinal Degeneration Active, not recruiting NCT03146078
15 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 1043)
# 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
Identification of a novel homozygous ARSG mutation as the second cause of Usher syndrome type 4. 61
32455177 2020
7
Identification of novel USH2A mutations in patients with autosomal recessive retinitis pigmentosa via targeted next‑generation sequencing. 61
32319668 2020
8
Bi-allelic mutations in HARS1 severely impair histidyl-tRNA synthetase expression and enzymatic activity causing a novel multisystem ataxic syndrome. 61
32333447 2020
9
Living with type I Usher syndrome: insights from patients and their parents. 61
32367747 2020
10
Management of Full-Thickness Macular Hole in A Genetically Confirmed Case with Usher Syndrome. 61
32566994 2020
11
Genome Editing in Patient iPSCs Corrects the Most Prevalent USH2A Mutations and Reveals Intriguing Mutant mRNA Expression Profiles. 61
31909088 2020
12
Next generation sequencing using phenotype-based panels for genetic testing in inherited retinal diseases. 61
32543920 2020
13
Chronic retinal detachment and neovascular glaucoma after intravitreal stem cell injection for Usher Syndrome. 61
32211560 2020
14
A Novel Cadherin 23 Variant for Hereditary Hearing Loss Reveals Additional Support for a DFNB12 Nonsyndromic Phenotype of CDH23. 61
32485727 2020
15
Living with Usher Syndrome: Patient and Physician Perspectives. 61
32388634 2020
16
Fetal antisense oligonucleotide therapy for congenital deafness and vestibular dysfunction. 61
32249312 2020
17
The Era of Precision Medicine: Reshaping Usher Syndrome. 61
32434306 2020
18
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
19
Severe or Profound Sensorineural Hearing Loss Caused by Novel USH2A Variants in Korea: Potential Genotype-Phenotype Correlation. 61
31674169 2020
20
Atypical and ultra-rare Usher syndrome: a review. 61
32372680 2020
21
A case of Usher syndrome type IIA caused by a rare USH2A homozygous frameshift variant with maternal uniparental disomy (UPD) in a Chinese family. 61
32449591 2020
22
Frequency of Usher gene mutations in non-syndromic hearing loss: higher variability of the Usher phenotype. 61
32467589 2020
23
Baseline Visual Field Findings in the RUSH2A Study: Associated Factors and Correlation with Other Measures of Disease Severity. 61
32446738 2020
24
[Clinical phenotype and genotype analysis of the family with the Usher syndrome]. 61
32219829 2020
25
Establishing Genotype-phenotype Correlation in USH2A-related Disorders to Personalize Audiological Surveillance and Rehabilitation. 61
32176120 2020
26
Is it Usher syndrome? Collaborative diagnosis and molecular genetics of patients with visual impairment and hearing loss. 61
32281467 2020
27
Biomarkers in Usher syndrome: ultra-widefield fundus autofluorescence and optical coherence tomography findings and their correlation with visual acuity and electrophysiology findings. 61
32240425 2020
28
Myosin-VIIa is expressed in multiple isoforms and essential for tensioning the hair cell mechanotransduction complex. 61
32350269 2020
29
Setup by a person with deafblindness of a face-to-face communication assistive technology based on generally available applications. 61
32315219 2020
30
The small EF-hand protein CALML4 functions as a critical myosin light chain within the intermicrovillar adhesion complex. 61
32209652 2020
31
Visual Dermatology: Pemphigus Erythematosus (Senear-Usher Syndrome). 61
32208026 2020
32
Disease mechanisms and gene therapy for Usher syndrome. 61
32199721 2020
33
Retinal findings in pediatric patients with Usher syndrome Type 1 due to mutations in MYO7A gene. 61
31320737 2020
34
Prevalence and genetic-phenotypic characteristics of patients with USH2A mutations in a large cohort of Chinese patients with inherited retinal disease. 61
32188678 2020
35
Application of targeted panel sequencing and whole exome sequencing for 76 Chinese families with retinitis pigmentosa. 61
31960602 2020
36
Inner Ear Malformations in Congenital Deafness Are Not Associated with Increased Risk of Breech Presentation. 61
32159401 2020
37
Usher syndrome in a patient with Ellis-van Creveld syndrome. 61
30991842 2020
38
Extending the spectrum of CLRN1- and ABCA4-associated inherited retinal dystrophies caused by novel and recurrent variants using exome sequencing. 61
31968401 2020
39
Cochlear Implantation in Children with Usher's Syndrome: A South Asian Experience. 61
32158671 2020
40
New compound heterozygous USH2A mutations in Usher syndrome. 61
30390381 2020
41
Establishing Genotype-phenotype Correlation in USH2A-related Disorders to Personalize Audiological Surveillance and Rehabilitation. 61
32068693 2020
42
Clarin-1 expression in adult mouse and human retina highlights a role of Müller glia in Usher syndrome. 61
31625146 2020
43
Mutation screening of the USH2A gene reveals two novel pathogenic variants in Chinese patients causing simplex usher syndrome 2. 61
32093671 2020
44
ARTEFACTUALLY DAMPENED FLASH STIMULUS VISUAL EVOKED RESPONSES IN A SILICONE OIL-FILLED EYE. 61
28827497 2020
45
Identification of 13 novel USH2A mutations in Chinese retinitis pigmentosa and Usher syndrome patients by targeted next-generation sequencing. 61
31904091 2020
46
Clinical and preclinical therapeutic outcome metrics for USH2A-related disease. 61
31998945 2020
47
Lack of PDZD7 long isoform disrupts ankle-link complex and causes hearing loss in mice. 61
31914662 2020
48
Targeted Next-Generation Sequencing Identified Novel Compound Heterozygous Variants in the CDH23 Gene Causing Usher Syndrome Type ID in a Chinese Patient. 61
32425987 2020
49
Genetic Testing for Congenital Bilateral Hearing Loss in the Context of Targeted Cytomegalovirus Screening. 61
31985074 2020
50
A novel splice-site variant in CDH23 in a patient with Usher syndrome type 1. 61
31755791 2019

Variations for Retinitis Pigmentosa-Deafness Syndrome

ClinVar genetic disease variations for Retinitis Pigmentosa-Deafness Syndrome:

6 (show top 50) (show all 114) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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 WHRN NM_015404.4(WHRN):c.33C>G (p.Ser11Arg)SNV Conflicting interpretations of pathogenicity 45677 rs45527543 9:117267049-117267049 9:114504769-114504769
3 CDH23 NM_022124.6(CDH23):c.2290-13deldeletion Conflicting interpretations of pathogenicity 45892 rs397517316 10:73455161-73455161 10:71695404-71695404
4 CDH23 NM_022124.6(CDH23):c.7823G>A (p.Arg2608His)SNV Conflicting interpretations of pathogenicity 46040 rs202052174 10:73563128-73563128 10:71803371-71803371
5 PCDH15 NM_033056.4(PCDH15):c.5245_5247CCT[3] (p.Pro1752del)short repeat Conflicting interpretations of pathogenicity 46488 rs397517462 10:55582230-55582232 10:53822470-53822472
6 PCDH15 NM_033056.4(PCDH15):c.5281_5286GCTCCT[1] (p.1761_1762AP[1])short repeat Conflicting interpretations of pathogenicity 46493 rs397517465 10:55582194-55582199 10:53822434-53822439
7 HARS1 , HARS2 NM_012208.4(HARS2):c.7C>G (p.Leu3Val)SNV Conflicting interpretations of pathogenicity 137536 rs186043734 5:140071240-140071240 5:140691655-140691655
8 MYO7A NM_000260.4(MYO7A):c.4851C>T (p.Pro1617=)SNV Conflicting interpretations of pathogenicity 178488 rs372535399 11:76910862-76910862 11:77199817-77199817
9 CDH23 , PSAP NM_022124.6(CDH23):c.9629T>C (p.Ile3210Thr)SNV Conflicting interpretations of pathogenicity 178315 rs144688588 10:73572643-73572643 10:71812886-71812886
10 CDH23 , PSAP NM_022124.6(CDH23):c.10026C>T (p.Asp3342=)SNV Conflicting interpretations of pathogenicity 178317 rs377118941 10:73574996-73574996 10:71815239-71815239
11 CDH23 NM_022124.6(CDH23):c.9198+13C>TSNV Conflicting interpretations of pathogenicity 300472 rs375384238 10:73571205-73571205 10:71811448-71811448
12 CDH23 , PSAP NM_022124.6(CDH23):c.9739-12G>ASNV Conflicting interpretations of pathogenicity 300475 rs200638595 10:73574697-73574697 10:71814940-71814940
13 CDH23 , PSAP NM_022124.6(CDH23):c.*68G>CSNV Conflicting interpretations of pathogenicity 300482 rs527311705 10:73575103-73575103 10:71815346-71815346
14 HARS1 NM_002109.6(HARS1):c.1312-8C>TSNV Conflicting interpretations of pathogenicity 227423 rs772505507 5:140054418-140054418 5:140674833-140674833
15 CDH23 , PSAP NM_022124.6(CDH23):c.9291G>T (p.Lys3097Asn)SNV Conflicting interpretations of pathogenicity 300473 rs368441850 10:73571482-73571482 10:71811725-71811725
16 CDH23 , PSAP NM_022124.6(CDH23):c.9860G>A (p.Gly3287Asp)SNV Conflicting interpretations of pathogenicity 300477 rs562590210 10:73574830-73574830 10:71815073-71815073
17 CDH23 , PSAP NM_022124.6(CDH23):c.*515C>ASNV Conflicting interpretations of pathogenicity 300494 rs16929375 10:73575550-73575550 10:71815793-71815793
18 CDH23 , PSAP NM_022124.6(CDH23):c.9942G>A (p.Thr3314=)SNV Conflicting interpretations of pathogenicity 300478 rs376804660 10:73574912-73574912 10:71815155-71815155
19 CDH23 , PSAP NM_022124.6(CDH23):c.*361C>ASNV Conflicting interpretations of pathogenicity 300490 rs115033851 10:73575396-73575396 10:71815639-71815639
20 CDH23 , PSAP NM_022124.6(CDH23):c.*430A>TSNV Conflicting interpretations of pathogenicity 300491 rs562268606 10:73575465-73575465 10:71815708-71815708
21 CDH23 , PSAP NM_022124.6(CDH23):c.*434G>ASNV Conflicting interpretations of pathogenicity 300492 rs529522213 10:73575469-73575469 10:71815712-71815712
22 CDH23 , PSAP NM_022124.6(CDH23):c.*588deldeletion Conflicting interpretations of pathogenicity 300495 rs148667421 10:73575621-73575621 10:71815864-71815864
23 CDH23 NM_022124.6(CDH23):c.-45_-41AGGCG[4]short repeat Conflicting interpretations of pathogenicity 300394 rs71012280 10:73157033-73157034 10:71397276-71397277
24 CDH23 , PSAP NM_022124.6(CDH23):c.9799C>T (p.Arg3267Cys)SNV Conflicting interpretations of pathogenicity 300476 rs201727938 10:73574769-73574769 10:71815012-71815012
25 CDH23 , PSAP NM_022124.6(CDH23):c.*104G>CSNV Conflicting interpretations of pathogenicity 300485 rs377312107 10:73575139-73575139 10:71815382-71815382
26 CDH23 , PSAP NM_022124.6(CDH23):c.*141G>ASNV Conflicting interpretations of pathogenicity 300487 rs535544696 10:73575176-73575176 10:71815419-71815419
27 CDH23 NM_022124.6(CDH23):c.446C>T (p.Thr149Met)SNV Uncertain significance 300401 rs370947344 10:73326515-73326515 10:71566758-71566758
28 CDH23 NM_022124.6(CDH23):c.5727T>C (p.Thr1909=)SNV Uncertain significance 300446 rs756919394 10:73545402-73545402 10:71785645-71785645
29 PCDH15 NM_033056.4(PCDH15):c.*127dupduplication Uncertain significance 300163 rs548021914 10:55581490-55581491 10:53821730-53821731
30 CDH23 NM_022124.6(CDH23):c.-197_-191GAGCGGC[3]short repeat Uncertain significance 300391 rs527578984 10:73156882-73156888 10:71397125-71397131
31 CDH23 NM_022124.6(CDH23):c.*117dupduplication Uncertain significance 300486 rs886047145 10:73575150-73575151 10:71815393-71815394
32 WHRN NM_015404.4(WHRN):c.*325dupduplication Uncertain significance 364673 rs886063369 9:117164708-117164709 9:114402428-114402429
33 WHRN NM_015404.4(WHRN):c.*37C>GSNV Uncertain significance 364678 rs549195233 9:117164997-117164997 9:114402717-114402717
34 MYO7A NM_000260.4(MYO7A):c.2759G>A (p.Arg920Gln)SNV Uncertain significance 306180 rs565162134 11:76892490-76892490 11:77181444-77181444
35 MYO7A NM_000260.4(MYO7A):c.-160G>ASNV Uncertain significance 306149 rs576789908 11:76839422-76839422 11:77128376-77128376
36 USH1G NM_173477.5(USH1G):c.*1903_*1905dupduplication Uncertain significance 325029 rs886053382 17:72912259-72912260 17:74916167-74916168
37 USH1G NM_173477.5(USH1G):c.*1168_*1169TG[8]short repeat Uncertain significance 325036 rs746904393 17:72912983-72912984 17:74916891-74916892
38 USH1G NM_173477.5(USH1G):c.*1150_*1151TG[5]short repeat Uncertain significance 325038 rs368387485 17:72913004-72913005 17:74916912-74916913
39 PCDH15 NM_033056.4(PCDH15):c.*147_*150dupduplication Uncertain significance 300161 rs886047057 10:55581467-55581468 10:53821707-53821708
40 CDH23 NM_022124.6(CDH23):c.1621G>A (p.Glu541Lys)SNV Uncertain significance 252736 rs562019725 10:73437319-73437319 10:71677562-71677562
41 PCDH15 NM_033056.4(PCDH15):c.*268_*269deldeletion Uncertain significance 300160 rs886047056 10:55581349-55581350 10:53821589-53821590
42 PCDH15 NM_033056.4(PCDH15):c.706-17_706-14delshort repeat Uncertain significance 300200 rs886047068 10:56077215-56077218 10:54317455-54317458
43 CDH23 NM_022124.6(CDH23):c.-197_-191GAGCGGC[5]short repeat Uncertain significance 300390 rs527578984 10:73156881-73156882 10:71397124-71397125
44 CDH23 NM_022124.6(CDH23):c.3109G>A (p.Gly1037Ser)SNV Uncertain significance 300421 rs886047133 10:73468857-73468857 10:71709100-71709100
45 CDH23 NM_022124.6(CDH23):c.4147G>A (p.Asp1383Asn)SNV Uncertain significance 300430 rs752442832 10:73494039-73494039 10:71734282-71734282
46 CDH23 NM_022124.6(CDH23):c.7661-9C>TSNV Uncertain significance 300457 rs577559462 10:73562957-73562957 10:71803200-71803200
47 CLRN1 NM_052995.2(CLRN1):c.342+406GT[15]short repeat Uncertain significance 343807 rs34027634 3:150645418-150645419 3:150927631-150927632
48 CLRN1 NM_052995.2(CLRN1):c.342+406GT[12]short repeat Uncertain significance 343810 rs34027634 3:150645419-150645422 3:150927632-150927635
49 CLRN1 NM_052995.2(CLRN1):c.342+394AT[5]short repeat Uncertain significance 343813 rs550716419 3:150645447-150645448 3:150927660-150927661
50 HARS1 NM_002109.6(HARS1):c.397-10_397-9deldeletion Uncertain significance 351238 rs886060020 5:140058721-140058722 5:140679136-140679137

Expression for Retinitis Pigmentosa-Deafness Syndrome

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

Pathways for Retinitis Pigmentosa-Deafness Syndrome

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.87 MT-TS2 HARS1

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 stereocilium GO:0032420 8.62 WHRN CDH23

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

# Name GO ID Score Top Affiliating Genes
1 inner ear receptor cell stereocilium organization GO:0060122 9.16 WHRN CDH23
2 sensory perception of light stimulus GO:0050953 8.96 WHRN CDH23
3 sensory perception of sound GO:0007605 8.8 WHRN PSAP CDH23

Sources for Retinitis Pigmentosa-Deafness Syndrome

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