MCID: RTN187
MIFTS: 30

Retinitis Pigmentosa-Deafness Syndrome

Categories: Rare diseases, Ear diseases, Genetic diseases

Aliases & Classifications for Retinitis Pigmentosa-Deafness Syndrome

MalaCards integrated aliases for Retinitis Pigmentosa-Deafness Syndrome:

Name: Retinitis Pigmentosa-Deafness Syndrome 53 12 49 28
Retinitis Pigmentosa 21, Formerly 53 49
Retinitis Pigmentosa 8, Formerly 53 49
Rp21, Formerly 53 49
Rp8, Formerly 53 49
Retinitis Pigmentosa 21, Formerly; Rp21, Formerly 53
Retinitis Pigmentosa 8, Formerly; Rp8, Formerly 53
Usher Syndrome 69

Classifications:



External Ids:

OMIM 53 500004
Disease Ontology 12 DOID:0110829
ICD10 32 H35.5
MedGen 39 C0271097
UMLS 69 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 has symptoms including equilibration disorder, vertigo/dizziness and sore throat. 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 testes.

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:

# Related Disease Score Top Affiliating Genes
1 usher syndrome 11.3

Symptoms & Phenotypes for Retinitis Pigmentosa-Deafness Syndrome

Clinical features from OMIM:

500004

UMLS symptoms related to Retinitis Pigmentosa-Deafness Syndrome:


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

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
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 28

Anatomical Context for Retinitis Pigmentosa-Deafness Syndrome

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

38
Testes

Publications for Retinitis Pigmentosa-Deafness Syndrome

Articles related to Retinitis Pigmentosa-Deafness Syndrome:

(show top 50) (show all 461)
# Title Authors Year
1
Targeted next generation sequencing identified a novel mutation in MYO7A causing Usher syndrome type 1 in an Iranian consanguineous pedigree. ( 29287847 )
2018
2
Identification of two novel pathogenic compound heterozygous MYO7A mutations in Usher syndrome by whole exome sequencing. ( 29287864 )
2018
3
A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans. ( 29300381 )
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
The Usher Syndrome Type IIIB Histidyl-tRNA Synthetase Mutation Confers Temperature Sensitivity. ( 28632987 )
2017
7
Genetic analysis of a Chinese family with members affected with Usher syndrome type II and Waardenburg syndrome type IV. ( 29106856 )
2017
8
A homozygous MYO7A mutation associated to Usher syndrome and unilateral auditory neuropathy spectrum disorder. ( 28731162 )
2017
9
Usher syndrome and late-onset psychosis. ( 28541731 )
2017
10
Prevalence of macular abnormalities assessed by optical coherence tomography in patients with Usher syndrome. ( 28704163 )
2017
11
Outcomes of Late Implantation in Usher Syndrome Patients. ( 28382120 )
2017
12
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
13
Gene therapy approaches for prevention of retinal degeneration in Usher syndrome. ( 28054582 )
2017
14
Rescue of peripheral vestibular function in Usher syndrome mice using a splice-switching antisense oligonucleotide. ( 28633508 )
2017
15
Gene Therapy Restores Balance and Auditory Functions in a Mouse Model of Usher Syndrome. ( 28254438 )
2017
16
Characterization of the ternary Usher syndrome SANS/ush2a/whirlin protein complex. ( 28137943 )
2017
17
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
18
Modeling and Preventing Progressive Hearing Loss in Usher Syndrome III. ( 29044151 )
2017
19
A novel mutation in the MYO7A gene is associated with Usher syndrome type 1 in a Chinese family. ( 28688563 )
2017
20
Adenocarcinoma of the Rectum in a 27-year-old Patient with Usher Syndrome : Is there a Genetic Correlation? ( 29364104 )
2017
21
Cochlear Implantation in Patients With Usher Syndrome Type IIa Increases Performance and Quality of Life. ( 28498263 )
2017
22
Gene therapy restores auditory and vestibular function in a mouse model of Usher syndrome type 1c. ( 28165476 )
2017
23
Psychosocial well-being and health-related quality of life in a UK population with Usher syndrome. ( 28082366 )
2017
24
Targeted next generation sequencing in Italian patients with Usher syndrome: phenotype-genotype correlations. ( 29142287 )
2017
25
Visual Outcomes in Japanese Patients with Retinitis Pigmentosa and Usher Syndrome Caused by USH2A Mutations. ( 28678594 )
2017
26
A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula. ( 28469144 )
2017
27
Usher syndrome type 1-associated cadherins shape the photoreceptor outer segment. ( 28495838 )
2017
28
Local gene therapy durably restores vestibular function in a mouse model of Usher syndrome type 1G. ( 28835534 )
2017
29
The E3 ligase Ubr3 regulates Usher syndrome and MYH9 disorder proteins in the auditory organs of Drosophila and mammals. ( 27331610 )
2016
30
The Time Course of Deafness and Retinal Degeneration in a Kunming Mouse Model for Usher Syndrome. ( 27186975 )
2016
31
CEP78 is mutated in a distinct type of Usher syndrome. ( 27627988 )
2016
32
Outer Retinal Changes Including the Ellipsoid Zone Band in Usher Syndrome 1B due to MYO7A Mutations. ( 27409480 )
2016
33
An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients. ( 27460420 )
2016
34
Usher syndrome in Denmark: mutation spectrum and some clinical observations. ( 27957503 )
2016
35
A small molecule mitigates hearing loss in a mouse model of Usher syndrome III. ( 27110679 )
2016
36
Assessing Photoreceptor Structure in Retinitis Pigmentosa and Usher Syndrome. ( 27145477 )
2016
37
Impairment of Vision in a Mouse Model of Usher Syndrome Type III. ( 26943149 )
2016
38
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
39
Compound heterozygous MYO7A mutations segregating Usher syndrome type 2 in a Han family. ( 27729122 )
2016
40
Impact of the Usher syndrome on olfaction. ( 26620972 )
2016
41
CLINICAL PRESENTATION AND DISEASE COURSE OF USHER SYNDROME BECAUSE OF MUTATIONS IN MYO7A OR USH2A. ( 27828912 )
2016
42
The combination of vestibular impairment and congenital sensorineural hearing loss predisposes patients to ocular anomalies, including Usher syndrome. ( 27743452 )
2016
43
Genetic analysis of Tunisian families with Usher syndrome type 1: toward improving early molecular diagnosis. ( 27440999 )
2016
44
A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa. ( 27318125 )
2016
45
Hearing aid fitting for visual and hearing impaired patients with Usher Syndrome type IIa. ( 27759911 )
2016
46
Diversity of the Genes Implicated in Algerian Patients Affected by Usher Syndrome. ( 27583663 )
2016
47
Frequency of Usher syndrome type 1 in deaf children by massively parallel DNA sequencing. ( 26791358 )
2016
48
Partial USH2A deletions contribute to Usher syndrome in Denmark. ( 26559128 )
2015
49
Whole-exome sequencing identifies USH2A mutations in a pseudo-dominant Usher syndrome family. ( 26310143 )
2015
50
Identification of a Novel CLRN1 Gene Mutation in Usher Syndrome Type 3: Two Case Reports. ( 25743179 )
2015

Variations for Retinitis Pigmentosa-Deafness Syndrome

ClinVar genetic disease variations for Retinitis Pigmentosa-Deafness Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MT-TS2 m.12258C> A single nucleotide variant Pathogenic rs118203888 GRCh37 Chromosome MT, 12258: 12258
2 ADGRV1 NM_032119.3(ADGRV1): c.6901C> T (p.Gln2301Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121909762 GRCh37 Chromosome 5, 89986808: 89986808

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

Sources for Retinitis Pigmentosa-Deafness Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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