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 Natural History and Genetic Studies of Usher Syndrome Completed NCT00106743
7 A Genetic Analysis of Usher Syndrome in Ashkenazi Jews Completed NCT00016471
8 Study of Usher Syndromes, Type 1 and Type 2 Completed NCT00001347
9 Clinical and Genetic Testing of Patients With Usher Syndrome Completed NCT03319524
10 Molecular Genetics of Retinal Degenerations Completed NCT00231010
11 Natural History Study in Subjects With Usher Syndrome Recruiting NCT03814499
12 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940
13 Stem Cell Ophthalmology Treatment Study II Recruiting NCT03011541 Not Applicable
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 493)
# Title Authors Year
1
Usher syndrome in a patient with Ellis-van Creveld syndrome. ( 30991842 )
2019
2
Identification of four novel mutations in MYO7A gene and their association with nonsyndromic deafness and Usher Syndrome 1B. ( 30826590 )
2019
3
Whole exome sequencing identifies novel USH2A mutations and confirms Usher syndrome 2 diagnosis in Chinese retinitis pigmentosa patients. ( 30948794 )
2019
4
Genetics of Usher Syndrome: New Insights From a Meta-analysis. ( 30531642 )
2019
5
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
6
Novel compound heterozygous CDH23 variants in a patient with Usher syndrome type I. ( 30774966 )
2019
7
Unanticipated prognosis for a patient with type 2 Usher syndrome. ( 30796641 )
2019
8
Usher syndrome and non-syndromic deafness: Functions of different whirlin isoforms in the cochlea, vestibular organs, and retina. ( 30831381 )
2019
9
Evidence for impaired olfactory function and structural brain integrity in a disorder of ciliary function, Usher syndrome. ( 30897432 )
2019
10
A novel ABHD12 nonsense variant in Usher syndrome type 3 family with genotype-phenotype spectrum review. ( 30974196 )
2019
11
Psychosocial determinants associated with quality of life in people with usher syndrome. A scoping review. ( 30974979 )
2019
12
Detecting novel mutations and combined Klinefelter syndrome in Usher syndrome cases. ( 31035849 )
2019
13
Novel Usher syndrome pathogenic variants identified in cases with hearing and vision loss. ( 31046701 )
2019
14
Severe retinal degeneration at an early age in Usher syndrome type 1B associated with homozygous splice site mutations in MYO7A gene. ( 29942180 )
2018
15
Visual Outcomes in Japanese Patients with Retinitis Pigmentosa and Usher Syndrome Caused by USH2A Mutations. ( 28678594 )
2018
16
Prevalence of macular abnormalities assessed by optical coherence tomography in patients with Usher syndrome. ( 28704163 )
2018
17
Antisense oligonucleotide therapy rescues disruptions in organization of exploratory movements associated with Usher syndrome type 1C in mice. ( 29037661 )
2018
18
Targeted next generation sequencing identified a novel mutation in MYO7A causing Usher syndrome type 1 in an Iranian consanguineous pedigree. ( 29287847 )
2018
19
Identification of two novel pathogenic compound heterozygous MYO7A mutations in Usher syndrome by whole exome sequencing. ( 29287864 )
2018
20
A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans. ( 29300381 )
2018
21
Identification of a novel MYO7A mutation in Usher syndrome type 1. ( 29416772 )
2018
22
The Genetics of Usher Syndrome in the Israeli and Palestinian Populations. ( 29490346 )
2018
23
SD-OCT imaging as a valuable tool to support molecular genetic diagnostics of Usher syndrome type 1. ( 29551606 )
2018
24
Utility of whole exome sequencing in the diagnosis of Usher syndrome: Report of novel compound heterozygous MYO7A mutations. ( 29605349 )
2018
25
Comprehensive Molecular Screening in Chinese Usher Syndrome Patients. ( 29625443 )
2018
26
Health, work, social trust, and financial situation in persons with Usher syndrome type 1. ( 29865098 )
2018
27
Identification of two novel compound heterozygous mutations of ADGRV1 in a Chinese family with Usher syndrome type IIC. ( 29883260 )
2018
28
A novel homozygous variant of GPR98 causes usher syndrome type IIC in a consanguineous Chinese family by next generation sequencing. ( 29890953 )
2018
29
A Natural Occurring Mouse Model with Adgrv1 Mutation of Usher Syndrome 2C and Characterization of its Recombinant Inbred Strains. ( 29961073 )
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
Long-term visual outcomes and rehabilitation in Usher syndrome type II after retinal implant Argus II. ( 30134849 )
2018
35
Preferential Binding of Mg2+ Over Ca2+ to CIB2 Triggers an Allosteric Switch Impaired in Usher Syndrome Type 1J. ( 30174586 )
2018
36
Genetic screening of Russian Usher syndrome patients toward selection for gene therapy. ( 30358468 )
2018
37
Grxcr1 Promotes Hair Bundle Development by Destabilizing the Physical Interaction between Harmonin and Sans Usher Syndrome Proteins. ( 30380418 )
2018
38
Overcoming barriers to the involvement of deafblind people in conversations about research: recommendations from individuals with Usher syndrome. ( 30386632 )
2018
39
New compound heterozygous USH2A mutations in Usher syndrome. ( 30390381 )
2018
40
High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative. ( 30459346 )
2018
41
Generation of a human iPSC line, INMi002-A, carrying the most prevalent USH2A variant associated with Usher syndrome type 2. ( 30468996 )
2018
42
Ciliopathy: Usher Syndrome. ( 30578505 )
2018
43
A homozygous MYO7A mutation associated to Usher syndrome and unilateral auditory neuropathy spectrum disorder. ( 28731162 )
2017
44
Gene therapy approaches for prevention of retinal degeneration in Usher syndrome. ( 28054582 )
2017
45
The combination of vestibular impairment and congenital sensorineural hearing loss predisposes patients to ocular anomalies, including Usher syndrome. ( 27743452 )
2017
46
CEP78 is mutated in a distinct type of Usher syndrome. ( 27627988 )
2017
47
Hearing aid fitting for visual and hearing impaired patients with Usher syndrome type IIa. ( 27759911 )
2017
48
CLINICAL PRESENTATION AND DISEASE COURSE OF USHER SYNDROME BECAUSE OF MUTATIONS IN MYO7A OR USH2A. ( 27828912 )
2017
49
Psychosocial well-being and health-related quality of life in a UK population with Usher syndrome. ( 28082366 )
2017
50
Characterization of the ternary Usher syndrome SANS/ush2a/whirlin protein complex. ( 28137943 )
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 CLRN1 NM_001195794.1(CLRN1): c.144T> G (p.Asn48Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs111033258 GRCh37 Chromosome 3, 150690352: 150690352
2 CLRN1 NM_001195794.1(CLRN1): c.144T> G (p.Asn48Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs111033258 GRCh38 Chromosome 3, 150972565: 150972565
3 CDH23 NM_022124.5(CDH23): c.6442G> A (p.Asp2148Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs111033271 GRCh37 Chromosome 10, 73553127: 73553127
4 CDH23 NM_022124.5(CDH23): c.6442G> A (p.Asp2148Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs111033271 GRCh38 Chromosome 10, 71793370: 71793370
5 ADGRV1 NM_032119.3(ADGRV1): c.6901C> T (p.Gln2301Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121909762 GRCh37 Chromosome 5, 89986808: 89986808
6 ADGRV1 NM_032119.3(ADGRV1): c.6901C> T (p.Gln2301Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121909762 GRCh38 Chromosome 5, 90690991: 90690991
7 MT-TS2 m.12258C> A single nucleotide variant Pathogenic rs118203888 GRCh37 Chromosome MT, 12258: 12258
8 MT-TS2 m.12258C> A single nucleotide variant Pathogenic rs118203888 GRCh38 Chromosome MT, 12258: 12258
9 MYO7A NM_000260.4(MYO7A): c.905G> A (p.Arg302His) single nucleotide variant Likely benign rs41298135 GRCh37 Chromosome 11, 76869378: 76869378
10 MYO7A NM_000260.4(MYO7A): c.905G> A (p.Arg302His) single nucleotide variant Likely benign rs41298135 GRCh38 Chromosome 11, 77158332: 77158332
11 MYO7A NM_000260.3(MYO7A): c.6052-11G> C single nucleotide variant Benign/Likely benign rs112564978 GRCh37 Chromosome 11, 76922186: 76922186
12 MYO7A NM_000260.3(MYO7A): c.133-7C> T single nucleotide variant Benign/Likely benign rs111033221 GRCh37 Chromosome 11, 76858837: 76858837
13 MYO7A NM_000260.3(MYO7A): c.133-7C> T single nucleotide variant Benign/Likely benign rs111033221 GRCh38 Chromosome 11, 77147791: 77147791
14 MYO7A NM_000260.3(MYO7A): c.1343+8G> A single nucleotide variant Benign/Likely benign rs2276278 GRCh37 Chromosome 11, 76872169: 76872169
15 MYO7A NM_000260.3(MYO7A): c.1343+8G> A single nucleotide variant Benign/Likely benign rs2276278 GRCh38 Chromosome 11, 77161123: 77161123
16 MYO7A NM_000260.3(MYO7A): c.1605C> T (p.Asn535=) single nucleotide variant Benign/Likely benign rs111033228 GRCh37 Chromosome 11, 76873949: 76873949
17 MYO7A NM_000260.3(MYO7A): c.1605C> T (p.Asn535=) single nucleotide variant Benign/Likely benign rs111033228 GRCh38 Chromosome 11, 77162903: 77162903
18 MYO7A NM_000260.3(MYO7A): c.1854G> A (p.Leu618=) single nucleotide variant Benign/Likely benign rs35429535 GRCh37 Chromosome 11, 76883850: 76883850
19 MYO7A NM_000260.3(MYO7A): c.1854G> A (p.Leu618=) single nucleotide variant Benign/Likely benign rs35429535 GRCh38 Chromosome 11, 77172804: 77172804
20 MYO7A NM_000260.3(MYO7A): c.2035G> A (p.Val679Ile) single nucleotide variant Benign/Likely benign rs35641839 GRCh37 Chromosome 11, 76885901: 76885901
21 MYO7A NM_000260.3(MYO7A): c.2035G> A (p.Val679Ile) single nucleotide variant Benign/Likely benign rs35641839 GRCh38 Chromosome 11, 77174855: 77174855
22 MYO7A NM_000260.3(MYO7A): c.2283G> A (p.Arg761=) single nucleotide variant Conflicting interpretations of pathogenicity rs111033229 GRCh37 Chromosome 11, 76890091: 76890091
23 MYO7A NM_000260.3(MYO7A): c.2283G> A (p.Arg761=) single nucleotide variant Conflicting interpretations of pathogenicity rs111033229 GRCh38 Chromosome 11, 77179045: 77179045
24 MYO7A NM_000260.3(MYO7A): c.2293C> A (p.Leu765Met) single nucleotide variant Uncertain significance rs201203036 GRCh37 Chromosome 11, 76890101: 76890101
25 MYO7A NM_000260.3(MYO7A): c.2293C> A (p.Leu765Met) single nucleotide variant Uncertain significance rs201203036 GRCh38 Chromosome 11, 77179055: 77179055
26 MYO7A NM_000260.3(MYO7A): c.2447G> A (p.Arg816His) single nucleotide variant Benign/Likely benign rs148343670 GRCh37 Chromosome 11, 76890860: 76890860
27 MYO7A NM_000260.3(MYO7A): c.2447G> A (p.Arg816His) single nucleotide variant Benign/Likely benign rs148343670 GRCh38 Chromosome 11, 77179814: 77179814
28 MYO7A NM_000260.3(MYO7A): c.2527G> A (p.Val843Met) single nucleotide variant Uncertain significance rs140559111 GRCh37 Chromosome 11, 76890940: 76890940
29 MYO7A NM_000260.3(MYO7A): c.2527G> A (p.Val843Met) single nucleotide variant Uncertain significance rs140559111 GRCh38 Chromosome 11, 77179894: 77179894
30 MYO7A NM_000260.3(MYO7A): c.2754C> T (p.Ala918=) single nucleotide variant Benign/Likely benign rs78072361 GRCh37 Chromosome 11, 76892485: 76892485
31 MYO7A NM_000260.3(MYO7A): c.2754C> T (p.Ala918=) single nucleotide variant Benign/Likely benign rs78072361 GRCh38 Chromosome 11, 77181439: 77181439
32 MYO7A NM_000260.3(MYO7A): c.2618G> A (p.Arg873Gln) single nucleotide variant Uncertain significance rs1052032 GRCh37 Chromosome 11, 76891451: 76891451
33 MYO7A NM_000260.3(MYO7A): c.2618G> A (p.Arg873Gln) single nucleotide variant Uncertain significance rs1052032 GRCh38 Chromosome 11, 77180405: 77180405
34 MYO7A NM_000260.3(MYO7A): c.286-5C> T single nucleotide variant Benign/Likely benign rs111033471 GRCh37 Chromosome 11, 76866948: 76866948
35 MYO7A NM_000260.3(MYO7A): c.286-5C> T single nucleotide variant Benign/Likely benign rs111033471 GRCh38 Chromosome 11, 77155902: 77155902
36 MYO7A NM_000260.3(MYO7A): c.2882G> A (p.Gly961Asp) single nucleotide variant Uncertain significance rs199575418 GRCh37 Chromosome 11, 76892613: 76892613
37 MYO7A NM_000260.3(MYO7A): c.2882G> A (p.Gly961Asp) single nucleotide variant Uncertain significance rs199575418 GRCh38 Chromosome 11, 77181567: 77181567
38 MYO7A NM_000260.3(MYO7A): c.288G> A (p.Thr96=) single nucleotide variant Benign/Likely benign rs56023295 GRCh37 Chromosome 11, 76866955: 76866955
39 MYO7A NM_000260.3(MYO7A): c.288G> A (p.Thr96=) single nucleotide variant Benign/Likely benign rs56023295 GRCh38 Chromosome 11, 77155909: 77155909
40 MYO7A NM_000260.3(MYO7A): c.3042G> T (p.Thr1014=) single nucleotide variant Benign/Likely benign rs111033507 GRCh37 Chromosome 11, 76893134: 76893134
41 MYO7A NM_000260.3(MYO7A): c.3042G> T (p.Thr1014=) single nucleotide variant Benign/Likely benign rs111033507 GRCh38 Chromosome 11, 77182088: 77182088
42 MYO7A NM_000260.3(MYO7A): c.3246G> A (p.Thr1082=) single nucleotide variant Benign/Likely benign rs35963362 GRCh37 Chromosome 11, 76893606: 76893606
43 MYO7A NM_000260.3(MYO7A): c.3246G> A (p.Thr1082=) single nucleotide variant Benign/Likely benign rs35963362 GRCh38 Chromosome 11, 77182561: 77182561
44 MYO7A NM_000260.4(MYO7A): c.324C> T (p.Tyr108=) single nucleotide variant Benign rs116892396 GRCh37 Chromosome 11, 76866991: 76866991
45 MYO7A NM_000260.4(MYO7A): c.324C> T (p.Tyr108=) single nucleotide variant Benign rs116892396 GRCh38 Chromosome 11, 77155945: 77155945
46 MYO7A NM_000260.3(MYO7A): c.3375+3G> A single nucleotide variant Uncertain significance rs397516299 GRCh37 Chromosome 11, 76894205: 76894205
47 MYO7A NM_000260.3(MYO7A): c.3375+3G> A single nucleotide variant Uncertain significance rs397516299 GRCh38 Chromosome 11, 77183160: 77183160
48 MYO7A NM_000260.3(MYO7A): c.3750+9G> A single nucleotide variant Conflicting interpretations of pathogenicity rs111033252 GRCh37 Chromosome 11, 76901193: 76901193
49 MYO7A NM_000260.3(MYO7A): c.3750+9G> A single nucleotide variant Conflicting interpretations of pathogenicity rs111033252 GRCh38 Chromosome 11, 77190148: 77190148
50 MYO7A NM_000260.3(MYO7A): c.380T> C (p.Ile127Thr) single nucleotide variant Uncertain significance rs41298131 GRCh37 Chromosome 11, 76867047: 76867047

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
Content
Loading form....