MCID: RTN187
MIFTS: 48

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 57 12 29 6 15
Retinitis Pigmentosa 21, Formerly; Rp21, Formerly 57
Retinitis Pigmentosa 8, Formerly; Rp8, Formerly 57
Retinitis Pigmentosa 21, Formerly 57
Retinitis Pigmentosa 8, Formerly 57
Rp21, Formerly 57
Usher Syndrome 70
Rp8, Formerly 57

Classifications:



External Ids:

Disease Ontology 12 DOID:0110829
OMIM® 57 500004
MeSH 44 D052245
NCIt 50 C126329
MedGen 41 C0271097
UMLS 70 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, atypical, due to saposin a deficiency, and has symptoms including tinnitus, snoring and sore throat. An important gene associated with Retinitis Pigmentosa-Deafness Syndrome is USH2A (Usherin). The drug Omega 3 Fatty Acid has been mentioned in the context of this disorder. Affiliated tissues include retina, eye and bone marrow, and related phenotypes are behavior/neurological and 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 top 50) (show all 77)
# Related Disease Score Top Affiliating Genes
1 usher syndrome 27.5 ZDHHC24 WHRN USH2A-AS2 USH2A-AS1 USH2A USH1C
2 krabbe disease, atypical, due to saposin a deficiency 10.4 PSAP CDH23
3 gaucher disease, atypical, due to saposin c deficiency 10.4 PSAP CDH23
4 y-linked monogenic disease 10.4 PCDH15 CDH23
5 deafness, autosomal recessive 83 10.3 MYO7A CDH23
6 deafness, autosomal dominant 65 10.3 WHRN PCDH15
7 combined saposin deficiency 10.3 PSAP CDH23
8 deafness, autosomal dominant 6 10.3 MYO7A CDH23
9 deafness, autosomal dominant 56 10.3 WHRN USH2A
10 nonsyndromic deafness 10.3 PCDH15 MYO7A CDH23
11 usher syndrome, type ik 10.3 PCDH15 CLRN1 CDH23
12 rare deafness 10.3 PCDH15 MYO7A CDH23
13 dfnb1 10.3 PCDH15 MYO7A
14 deafness, autosomal recessive 86 10.3 WHRN PCDH15 CDH23
15 deafness, autosomal recessive 57 10.3 WHRN ADGRV1
16 autosomal recessive nonsyndromic deafness 3 10.3 WHRN MYO7A CDH23
17 vestibular disease 10.2 PCDH15 MYO7A CDH23
18 deafness, autosomal recessive 48 10.2 WHRN MYO7A
19 deafness, autosomal recessive 30 10.2 WHRN PCDH15 MYO7A
20 autosomal recessive nonsyndromic deafness 36 10.2 WHRN USH1C PCDH15
21 deafness, autosomal recessive 62 10.2 CDH23 ADGRV1
22 deafness, autosomal recessive 7 10.2 MYO7A CDH23
23 deafness, autosomal recessive 100 10.2 MYO7A ADGRV1
24 deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome 10.2 PCDH15 CDH23
25 yemenite deaf-blind hypopigmentation syndrome 10.2 USH2A MYO7A
26 late-onset retinal degeneration 10.2 WHRN USH2A ADGRV1
27 deafness, autosomal dominant 36 10.2 PCDH15 CDH23
28 nonsyndromic retinitis pigmentosa 10.2 USH2A CLRN1 BBS1
29 deafness, autosomal recessive 18a 10.1 USH1C PCDH15 MYO7A CDH23
30 retinitis pigmentosa 39 10.1 USH2A-AS2 USH2A-AS1 USH2A
31 stickler syndrome 10.1 WHRN USH1C PCDH15 CDH23
32 deafness, autosomal recessive 31 10.1 WHRN USH2A CLRN1 ADGRV1
33 non-syndromic genetic deafness 10.1 USH2A-AS1 USH2A MYO7A CDH23
34 choroid disease 10.1 USH2A MYO7A
35 deafness, autosomal recessive 10.1 WHRN USH1C PCDH15 MYO7A CDH23
36 usher syndrome, type ig 10.0 WHRN USH1C PCDH15 MYO7A CDH23
37 usher syndrome, type ic 10.0 USH1C PCDH15 MYO7A CLRN1 CDH23
38 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 10.0 WHRN USH1C PCDH15 MYO7A CDH23
39 inner ear disease 10.0 USH2A USH1C PCDH15 MYO7A CDH23
40 branchiootic syndrome 1 10.0 WHRN USH2A-AS1 USH2A MYO7A CDH23
41 nonsyndromic hearing loss 10.0 USH2A-AS1 USH2A PCDH15 MYO7A CDH23
42 cone-rod dystrophy 12 9.9 PROM1 GUCA1A
43 cone dystrophy 3 9.9 LOC118142757 GUCA1A
44 deafness, autosomal recessive 2 9.9 WHRN USH1C PCDH15 MYO7A CDH23 ADGRV1
45 deafness, autosomal dominant 11 9.9 WHRN USH1C PCDH15 MYO7A CDH23 ADGRV1
46 usher syndrome, type ih 9.8 WHRN USH1C PCDH15 MYO7A CLRN1 CDH23
47 usher syndrome, type iiib 9.8 WHRN USH2A USH1C PCDH15 MYO7A CLRN1
48 auditory system disease 9.8 WHRN USH2A USH1C PCDH15 MYO7A CDH23
49 isolated macular dystrophy 9.7 PROM1 LOC118142757 GUCA1A
50 digenic disease 9.7 WHRN USH2A USH1C PCDH15 MYO7A CLRN1

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 (Updated 20-May-2021)

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.03 ADGRV1 ARSG BBS1 CDH23 CEP250 CLRN1
2 hearing/vestibular/ear MP:0005377 9.9 ADGRV1 BBS1 CDH23 CEP250 CLRN1 MYO7A
3 nervous system MP:0003631 9.83 ADGRV1 ARSG BBS1 CDH23 CEP250 CLRN1
4 vision/eye MP:0005391 9.47 ADGRV1 ARSG BBS1 CDH23 CEP250 CLRN1

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 13)
# Name Status NCT ID Phase Drugs
1 Safety and Efficacy of NPI-001 Tablets Versus Placebo for Treatment of Retinitis Pigmentosa Associated With Usher Syndrome Recruiting NCT04355689 Phase 1, Phase 2 NPI-001
2 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
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 SAR421869
4 European Research Projects on Rare Diseases Driven by Young Investigators Unknown status NCT01954953
5 Prospective Open Label Clinical and Genetic Testing of Patients With Usher Syndrome Completed NCT03319524
6 A Genetic Analysis of Usher Syndrome in Ashkenazi Jews Completed NCT00016471
7 Usher Syndrome - Clinical and Molecular Studies Completed NCT00001347
8 Natural History and Genetic Studies of Usher Syndrome Completed NCT00106743
9 A Multicentre Longitudinal, Observational Natural History Study to Evaluate Disease Progression in Subjects With Usher Syndrome Type 1B (USH1B) Recruiting NCT03814499
10 Natural History Study of Usher Syndrome in a Cohort of Patients Followed Longitudinally for 5 Years Recruiting NCT04665726
11 Characterizing Rate of Progression in USHer Syndrome (CRUSH) Study Active, not recruiting NCT04820244
12 Rate of Progression in USH2A-related Retinal Degeneration Active, not recruiting NCT03146078
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 29

Anatomical Context for Retinitis Pigmentosa-Deafness Syndrome

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

40
Retina, Eye, Bone Marrow, Cortex, Skin

Publications for Retinitis Pigmentosa-Deafness Syndrome

Articles related to Retinitis Pigmentosa-Deafness Syndrome:

(show top 50) (show all 1138)
# Title Authors PMID Year
1
Retinitis pigmentosa and progressive sensorineural hearing loss caused by a C12258A mutation in the mitochondrial MTTS2 gene. 57 6 61
10090882 1999
2
Prevalence and genetic-phenotypic characteristics of patients with USH2A mutations in a large cohort of Chinese patients with inherited retinal disease. 61 6
32188678 2021
3
Clinical and preclinical therapeutic outcome metrics for USH2A-related disease. 6 61
31998945 2020
4
The Genetics of Usher Syndrome in the Israeli and Palestinian Populations. 6 61
29490346 2018
5
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. 6 61
28944237 2017
6
An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients. 61 6
27460420 2016
7
A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa. 61 6
27318125 2016
8
Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa. 6 61
26927203 2016
9
A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants. 61 6
25649381 2015
10
Whole-exome sequencing identifies USH2A mutations in a pseudo-dominant Usher syndrome family. 61 6
26310143 2015
11
Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients. 6 61
26338283 2015
12
Usher syndrome: an effective sequencing approach to establish a genetic and clinical diagnosis. 61 6
25575603 2015
13
Cone responses in Usher syndrome types 1 and 2 by microvolt electroretinography. 6 61
25425308 2014
14
Targeted next generation sequencing for molecular diagnosis of Usher syndrome. 61 6
25404053 2014
15
Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspots. 61 6
24944099 2014
16
Screening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndrome. 6 61
25333064 2014
17
The effect of the common c.2299delG mutation in USH2A on RNA splicing. 61 6
24607488 2014
18
Targeted next-generation sequencing reveals novel USH2A mutations associated with diverse disease phenotypes: implications for clinical and molecular diagnosis. 6 61
25133613 2014
19
MYO7A and USH2A gene sequence variants in Italian patients with Usher syndrome. 6 61
25558175 2014
20
Novel and recurrent MYO7A mutations in Usher syndrome type 1 and type 2. 61 6
24831256 2014
21
Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies. 6 61
23591405 2014
22
Expressivity of hearing loss in cases with Usher syndrome type IIA. 61 6
24160897 2013
23
Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing. 6 61
23924366 2013
24
Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families. 6 61
23737954 2013
25
Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapy. 6 61
22009552 2012
26
Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study. 61 6
22135276 2012
27
Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations. 6 61
22004887 2011
28
Molecular epidemiology of Usher syndrome in Italy. 61 6
21738395 2011
29
Seven novel mutations in the long isoform of the USH2A gene in Chinese families with nonsyndromic retinitis pigmentosa and Usher syndrome Type II. 6 61
21686329 2011
30
Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray. 6 61
21151602 2010
31
Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children. 6 61
20613545 2010
32
Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa. 6 61
20507924 2010
33
PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome. 6 61
20440071 2010
34
Microarray-based mutation analysis of 183 Spanish families with Usher syndrome. 61 6
19683999 2010
35
Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genes. 6 61
20052763 2010
36
Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II. 61 6
19881469 2009
37
Identification of 11 novel mutations in USH2A among Japanese patients with Usher syndrome type 2. 6 61
19737284 2009
38
An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians. 61 6
18665195 2009
39
Disease course in patients with autosomal recessive retinitis pigmentosa due to the USH2A gene. 61 6
18641288 2008
40
Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism. 61 6
18463160 2008
41
Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function. 6 61
18181211 2008
42
Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II. 6 61
18273898 2008
43
Identification of five novel mutations in the long isoform of the USH2A gene in Chinese families with Usher syndrome type II. 6 61
19023448 2008
44
Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients. 6 61
17405132 2007
45
MYO7A mutation screening in Usher syndrome type I patients from diverse origins. 61 6
17361009 2007
46
Development of a genotyping microarray for Usher syndrome. 6 61
16963483 2007
47
Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II. 61 6
17085681 2006
48
Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%. 61 6
16679490 2006
49
Audiologic performance and benefit of cochlear implantation in Usher syndrome type I. 61 6
16652077 2006
50
Clinical and genetic studies in Spanish patients with Usher syndrome type II: description of new mutations and evidence for a lack of genotype--phenotype correlation. 6 61
16098008 2005

Variations for Retinitis Pigmentosa-Deafness Syndrome

ClinVar genetic disease variations for Retinitis Pigmentosa-Deafness Syndrome:

6 (show top 50) (show all 250)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MT-TS2 m.12258C>A SNV Pathogenic 9560 rs118203888 GRCh37: MT:12258-12258
GRCh38: MT:12258-12258
2 MYO7A NM_000260.4(MYO7A):c.4838del (p.Asp1613fs) Deletion Pathogenic 438178 rs1199012623 GRCh37: 11:76910849-76910849
GRCh38: 11:77199804-77199804
3 USH2A NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe) SNV Pathogenic 2359 rs121912600 GRCh37: 1:216497582-216497582
GRCh38: 1:216324240-216324240
4 ADGRV1 NM_032119.4(ADGRV1):c.12798T>A (p.Tyr4266Ter) SNV Pathogenic 438168 rs777309662 GRCh37: 5:90074375-90074375
GRCh38: 5:90778558-90778558
5 MYO7A NM_000260.4(MYO7A):c.2005C>T (p.Arg669Ter) SNV Pathogenic 43169 rs111033201 GRCh37: 11:76885871-76885871
GRCh38: 11:77174825-77174825
6 USH2A NM_206933.3(USH2A):c.12954C>A (p.Tyr4318Ter) SNV Pathogenic 438009 rs762159022 GRCh37: 1:215848299-215848299
GRCh38: 1:215674957-215674957
7 MYO7A NM_000260.4(MYO7A):c.3764del (p.Lys1255fs) Deletion Pathogenic 43223 rs111033347 GRCh37: 11:76901754-76901754
GRCh38: 11:77190709-77190709
8 USH2A NM_206933.3(USH2A):c.7595-2144A>G SNV Pathogenic 30722 rs786200928 GRCh37: 1:216064540-216064540
GRCh38: 1:215891198-215891198
9 USH2A and overlap with 1 gene(s) NM_206933.2(USH2A):c.4396+6857_6486-425del Deletion Pathogenic 503556 GRCh37: 1:216172825-216356708
GRCh38: 1:215999483-216183366
10 USH2A NM_206933.4(USH2A):c.1876C>T (p.Arg626Ter) SNV Pathogenic 497414 rs534534437 GRCh37: 1:216462717-216462717
GRCh38: 1:216289375-216289375
11 USH2A-AS1 , USH2A NM_206933.3(USH2A):c.3187_3188del (p.Gln1063fs) Deletion Pathogenic 265288 rs886039450 GRCh37: 1:216380743-216380744
GRCh38: 1:216207401-216207402
12 USH2A NM_206933.2:c.(?_4628)_(9371_?)del Deletion Pathogenic 503557 GRCh37: 1:216011333-216270555
GRCh38:
13 USH2A NM_007123.5(USH2A):c.1803del (p.Gly602fs) Deletion Pathogenic 503555 rs1553327452 GRCh37: 1:216465554-216465554
GRCh38: 1:216292212-216292212
14 PROM1 NM_006017.3(PROM1):c.1462G>T (p.Gly488Ter) SNV Pathogenic 560483 rs1560449207 GRCh37: 4:16002235-16002235
GRCh38: 4:16000612-16000612
15 ADGRV1 NM_032119.4(ADGRV1):c.14315C>G (p.Ser4772Ter) SNV Pathogenic 635159 rs1561740143 GRCh37: 5:90086961-90086961
GRCh38: 5:90791144-90791144
16 USH2A NM_206933.4(USH2A):c.8981G>A (p.Trp2994Ter) SNV Pathogenic 48611 rs397518041 GRCh37: 1:216019240-216019240
GRCh38: 1:215845898-215845898
17 USH2A NM_206933.3(USH2A):c.13274C>T (p.Thr4425Met) SNV Pathogenic 438011 rs201238640 GRCh37: 1:215847979-215847979
GRCh38: 1:215674637-215674637
18 CEP250 NM_007186.6(CEP250):c.3463C>T (p.Arg1155Ter) SNV Pathogenic 620658 rs749314857 GRCh37: 20:34085704-34085704
GRCh38: 20:35497875-35497875
19 ARSG NM_014960.5(ARSG):c.133G>T (p.Asp45Tyr) SNV Pathogenic 585252 rs1568445893 GRCh37: 17:66303767-66303767
GRCh38: 17:68307626-68307626
20 USH2A NM_007123.5(USH2A):c.2299del (p.Glu767fs) Deletion Pathogenic 2351 rs80338903 GRCh37: 1:216420437-216420437
GRCh38: 1:216247095-216247095
21 MYO7A NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln) SNV Pathogenic 43218 rs111033178 GRCh37: 11:76901153-76901153
GRCh38: 11:77190108-77190108
22 USH2A NM_007123.5(USH2A):c.920_923dup (p.His308fs) Duplication Pathogenic 48615 rs397518043 GRCh37: 1:216498866-216498867
GRCh38: 1:216325524-216325525
23 USH1C NM_005709.3(USH1C):c.238dupC (p.Arg80Profs) Duplication Pathogenic 5141 rs397515359 GRCh37: 11:17552955-17552956
GRCh38: 11:17531408-17531409
24 USH2A NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) SNV Pathogenic 2356 rs80338902 GRCh37: 1:216420460-216420460
GRCh38: 1:216247118-216247118
25 USH2A NM_206933.3(USH2A):c.4334_4335CT[2] (p.Cys1447fs) Microsatellite Pathogenic 2353 rs111033367 GRCh37: 1:216363622-216363623
GRCh38: 1:216190280-216190281
26 BBS1 , ZDHHC24 NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) SNV Pathogenic 12143 rs113624356 GRCh37: 11:66293652-66293652
GRCh38: 11:66526181-66526181
27 USH2A-AS2 , USH2A NM_206933.4(USH2A):c.5776+1G>A SNV Pathogenic 228414 rs876657731 GRCh37: 1:216246438-216246438
GRCh38: 1:216073096-216073096
28 USH2A NM_007123.5(USH2A):c.2299del (p.Glu767fs) Deletion Pathogenic 2351 rs80338903 GRCh37: 1:216420437-216420437
GRCh38: 1:216247095-216247095
29 USH2A NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter) SNV Pathogenic 2357 rs111033364 GRCh37: 1:215901574-215901574
GRCh38: 1:215728232-215728232
30 MYO7A NM_000260.4(MYO7A):c.5618G>A (p.Arg1873Gln) SNV Pathogenic 43292 rs397516322 GRCh37: 11:76916644-76916644
GRCh38: 11:77205599-77205599
31 MYO7A NM_000260.4(MYO7A):c.3503G>A (p.Arg1168Gln) SNV Pathogenic 179479 rs797044516 GRCh37: 11:76895760-76895760
GRCh38: 11:77184715-77184715
32 USH2A NM_206933.3(USH2A):c.1036A>C (p.Asn346His) SNV Pathogenic 48347 rs369522997 GRCh37: 1:216498754-216498754
GRCh38: 1:216325412-216325412
33 USH2A NM_206933.3(USH2A):c.8682-9A>G SNV Pathogenic 197510 rs372347027 GRCh37: 1:216040521-216040521
GRCh38: 1:215867179-215867179
34 USH2A NM_206933.4(USH2A):c.8559-2A>G SNV Pathogenic 48604 rs397518039 GRCh37: 1:216051224-216051224
GRCh38: 1:215877882-215877882
35 USH2A NM_206933.3(USH2A):c.11241C>A (p.Tyr3747Ter) SNV Pathogenic 506273 rs777465132 GRCh37: 1:215932085-215932085
GRCh38: 1:215758743-215758743
36 USH2A-AS2 , USH2A NM_206933.3(USH2A):c.5581G>A (p.Gly1861Ser) SNV Pathogenic 48535 rs375668376 GRCh37: 1:216246634-216246634
GRCh38: 1:216073292-216073292
37 USH2A NM_206933.4(USH2A):c.4510dup (p.Arg1504fs) Duplication Pathogenic 166504 rs727503731 GRCh37: 1:216348710-216348711
GRCh38: 1:216175368-216175369
38 USH2A NM_206933.3(USH2A):c.2610C>A (p.Cys870Ter) SNV Pathogenic 557167 rs767078782 GRCh37: 1:216420126-216420126
GRCh38: 1:216246784-216246784
39 LOC118142757 , GUCA1A NM_000409.4(GUCA1A):c.149C>T (p.Pro50Leu) SNV Pathogenic 9151 rs104893968 GRCh37: 6:42141500-42141500
GRCh38: 6:42173762-42173762
40 ADGRV1 NM_032119.4(ADGRV1):c.6901C>T (p.Gln2301Ter) SNV Pathogenic 6798 rs121909762 GRCh37: 5:89986808-89986808
GRCh38: 5:90690991-90690991
41 USH2A NM_206933.4(USH2A):c.8681+1G>A SNV Pathogenic 228416 rs876657733 GRCh37: 1:216051099-216051099
GRCh38: 1:215877757-215877757
42 USH2A NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter) SNV Pathogenic 48626 rs397518048 GRCh37: 1:215990485-215990485
GRCh38: 1:215817143-215817143
43 USH2A NM_206933.4(USH2A):c.802G>A (p.Gly268Arg) SNV Pathogenic 48592 rs111033280 GRCh37: 1:216500979-216500979
GRCh38: 1:216327637-216327637
44 USH2A NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg) SNV Pathogenic/Likely pathogenic 48352 rs111033264 GRCh37: 1:215956104-215956104
GRCh38: 1:215782762-215782762
45 USH2A NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) SNV Likely pathogenic 197932 rs148660051 GRCh37: 1:215963510-215963510
GRCh38: 1:215790168-215790168
46 MYO7A NM_000260.4(MYO7A):c.631A>G (p.Ser211Gly) SNV Likely pathogenic 43325 rs111033486 GRCh37: 11:76867946-76867946
GRCh38: 11:77156900-77156900
47 MYO7A NM_000260.4(MYO7A):c.6560G>A (p.Gly2187Asp) SNV Likely pathogenic 43335 rs397516332 GRCh37: 11:76925653-76925653
GRCh38: 11:77214608-77214608
48 USH2A-AS1 , USH2A NM_206933.3(USH2A):c.3543_3544AT[2] (p.Ile1183fs) Microsatellite Likely pathogenic 48503 rs397518013 GRCh37: 1:216373232-216373233
GRCh38: 1:216199890-216199891
49 MYO7A NM_000260.4(MYO7A):c.1798-7_1800delinsATCGGCTGCT Indel Likely pathogenic 929939 GRCh37: 11:76883787-76883796
GRCh38: 11:77172741-77172750
50 CDH23 NC_000010.11:g.(?_71645831)_(71646617_?)del Deletion Likely pathogenic 930029 GRCh37: 10:73405588-73406374
GRCh38:

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 16)
# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 10.08 WHRN USH2A USH1C PROM1 GUCA1A CEP250
2 cilium GO:0005929 9.86 WHRN PROM1 CEP250 BBS1
3 ciliary basal body GO:0036064 9.8 WHRN USH2A CEP250 BBS1
4 microvillus GO:0005902 9.76 USH1C PROM1 MYO7A CLRN1
5 photoreceptor connecting cilium GO:0032391 9.73 WHRN USH2A USH1C MYO7A
6 photoreceptor outer segment GO:0001750 9.73 USH1C PROM1 PCDH15 MYO7A GUCA1A CEP250
7 periciliary membrane compartment GO:1990075 9.58 WHRN USH2A ADGRV1
8 photoreceptor disc membrane GO:0097381 9.55 LOC118142757 GUCA1A
9 stereocilium tip GO:0032426 9.54 WHRN USH1C
10 USH2 complex GO:1990696 9.54 WHRN USH2A ADGRV1
11 stereocilium bundle GO:0032421 9.52 WHRN USH2A
12 stereocilium membrane GO:0060171 9.51 USH2A ADGRV1
13 stereocilia ankle link GO:0002141 9.5 WHRN USH2A ADGRV1
14 stereocilium GO:0032420 9.5 WHRN USH1C PCDH15 MYO7A CLRN1 CDH23
15 stereocilia ankle link complex GO:0002142 9.46 WHRN USH2A USH1C ADGRV1
16 photoreceptor inner segment GO:0001917 9.23 WHRN USH2A USH1C MYO7A LOC118142757 GUCA1A

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.92 USH2A MYO7A LOC118142757 GUCA1A CLRN1 CDH23
2 response to stimulus GO:0050896 9.91 USH2A GUCA1A CLRN1 CDH23 BBS1 ADGRV1
3 sensory perception of sound GO:0007605 9.86 WHRN USH2A USH1C PCDH15 MYO7A CLRN1
4 inner ear receptor cell stereocilium organization GO:0060122 9.77 WHRN USH1C MYO7A CDH23 ADGRV1
5 cellular response to calcium ion GO:0071277 9.73 LOC118142757 GUCA1A ADGRV1
6 inner ear development GO:0048839 9.67 PCDH15 MYO7A ADGRV1
7 establishment of protein localization GO:0045184 9.63 WHRN USH2A ADGRV1
8 regulation of rhodopsin mediated signaling pathway GO:0022400 9.58 LOC118142757 GUCA1A
9 auditory receptor cell stereocilium organization GO:0060088 9.58 WHRN MYO7A CLRN1
10 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.57 WHRN ADGRV1
11 sensory perception of light stimulus GO:0050953 9.56 WHRN USH2A USH1C PCDH15 MYO7A CLRN1
12 positive regulation of guanylate cyclase activity GO:0031284 9.55 LOC118142757 GUCA1A
13 equilibrioception GO:0050957 9.55 USH1C PCDH15 MYO7A CLRN1 CDH23
14 positive regulation of cGMP-mediated signaling GO:0010753 9.54 LOC118142757 GUCA1A
15 inner ear receptor cell differentiation GO:0060113 9.52 USH2A MYO7A
16 inner ear auditory receptor cell differentiation GO:0042491 9.51 USH1C MYO7A
17 maintenance of animal organ identity GO:0048496 9.48 USH2A ADGRV1
18 photoreceptor cell maintenance GO:0045494 9.23 USH2A USH1C PROM1 PCDH15 CLRN1 CDH23

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

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.55 PCDH15 LOC118142757 GUCA1A CDH23 ADGRV1
2 spectrin binding GO:0030507 9.26 USH1C MYO7A
3 calcium sensitive guanylate cyclase activator activity GO:0008048 8.96 LOC118142757 GUCA1A
4 guanylate cyclase regulator activity GO:0030249 8.62 LOC118142757 GUCA1A

Sources for Retinitis Pigmentosa-Deafness Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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