MCID: NNS043
MIFTS: 25

Nonsyndromic Retinitis Pigmentosa

Categories: Ear diseases, Eye diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Nonsyndromic Retinitis Pigmentosa

MalaCards integrated aliases for Nonsyndromic Retinitis Pigmentosa:

Name: Nonsyndromic Retinitis Pigmentosa 25

Classifications:



Summaries for Nonsyndromic Retinitis Pigmentosa

MalaCards based summary : Nonsyndromic Retinitis Pigmentosa is related to bietti crystalline corneoretinal dystrophy and yemenite deaf-blind hypopigmentation syndrome. An important gene associated with Nonsyndromic Retinitis Pigmentosa is TTC8 (Tetratricopeptide Repeat Domain 8), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Cargo trafficking to the periciliary membrane. Affiliated tissues include eye and retina, and related phenotypes are nervous system and vision/eye

GeneReviews: NBK1417

Related Diseases for Nonsyndromic Retinitis Pigmentosa

Diseases in the Retinitis Pigmentosa family:

Retinitis Pigmentosa 1 Retinitis Pigmentosa 9
Retinitis Pigmentosa 10 Retinitis Pigmentosa, Late-Adult Onset
Retinitis Pigmentosa 3 Retinitis Pigmentosa 24
Retinitis Pigmentosa 23 Retinitis Pigmentosa 34
Retinitis Pigmentosa 2 Retinitis Pigmentosa 6
Retinitis Pigmentosa 13 Retinitis Pigmentosa 12
Retinitis Pigmentosa 14 Retinitis Pigmentosa 11
Retinitis Pigmentosa 17 Retinitis Pigmentosa 18
Retinitis Pigmentosa 19 Retinitis Pigmentosa 22
Retinitis Pigmentosa 25 Retinitis Pigmentosa 28
Retinitis Pigmentosa 30 Retinitis Pigmentosa 7
Retinitis Pigmentosa 26 Retinitis Pigmentosa 32
Retinitis Pigmentosa 31 Retinitis Pigmentosa 35
Retinitis Pigmentosa 33 Retinitis Pigmentosa 36
Retinitis Pigmentosa 37 Retinitis Pigmentosa 41
Retinitis Pigmentosa 29 Retinitis Pigmentosa 46
Retinitis Pigmentosa 42 Retinitis Pigmentosa 50
Retinitis Pigmentosa 54 Retinitis Pigmentosa 51
Retinitis Pigmentosa 55 Retinitis Pigmentosa 56
Retinitis Pigmentosa 57 Retinitis Pigmentosa 58
Retinitis Pigmentosa 4 Retinitis Pigmentosa 27
Retinitis Pigmentosa 49 Retinitis Pigmentosa 47
Retinitis Pigmentosa 45 Retinitis Pigmentosa 44
Retinitis Pigmentosa 20 Retinitis Pigmentosa 40
Retinitis Pigmentosa 39 Retinitis Pigmentosa 43
Retinitis Pigmentosa 48 Retinitis Pigmentosa 59
Retinitis Pigmentosa 38 Retinitis Pigmentosa 60
Retinitis Pigmentosa 61 Retinitis Pigmentosa 62
Retinitis Pigmentosa 63 Retinitis Pigmentosa 66
Retinitis Pigmentosa 67 Retinitis Pigmentosa 68
Retinitis Pigmentosa 69 Retinitis Pigmentosa 70
Retinitis Pigmentosa 71 Retinitis Pigmentosa 72
Retinitis Pigmentosa 73 Retinitis Pigmentosa 74
Retinitis Pigmentosa 75 Retinitis Pigmentosa 76
Retinitis Pigmentosa 77 Retinitis Pigmentosa 78
Retinitis Pigmentosa 79 Retinitis Pigmentosa 80
Retinitis Pigmentosa 81 Retinitis Pigmentosa 83
Retinitis Pigmentosa 84 Retinitis Pigmentosa 85
Retinitis Pigmentosa 86 Retinitis Pigmentosa 88
Retinitis Pigmentosa 89 Retinitis Pigmentosa 90
Nonsyndromic Retinitis Pigmentosa

Diseases related to Nonsyndromic Retinitis Pigmentosa via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 96)
# Related Disease Score Top Affiliating Genes
1 bietti crystalline corneoretinal dystrophy 31.7 CLRN1 ABCA4
2 yemenite deaf-blind hypopigmentation syndrome 30.5 USH2A ABCA4
3 retinitis pigmentosa-deafness syndrome 30.5 USH2A CLRN1 BBS1
4 retinitis pigmentosa 74 30.4 TTC8 BBS2
5 usher syndrome, type iia 30.3 USH2A ABCA4
6 bardet-biedl syndrome 8 30.3 TTC8 BBS2 BBS1
7 usher syndrome type 2 29.8 USH2A CLRN1 BBS1 ABCA4
8 retinal degeneration 29.3 USH2A DHDDS BEST1 BBS1 ABCA4
9 bardet-biedl syndrome 1 29.3 TTC8 BEST1 BBS2 BBS1 ARL6
10 usher syndrome 29.1 USH2A TTC8 CLRN1 BEST1 BBS2 BBS1
11 retinitis pigmentosa 29.0 USH2A TTC8 MAK DHDDS CLRN1 BEST1
12 retinal disease 28.8 USH2A TTC8 CLRN1 BEST1 BBS2 BBS1
13 bardet-biedl syndrome 28.8 USH2A TTC8 CLRN1 BBS2 BBS1 ARL6
14 fundus dystrophy 27.9 USH2A TTC8 MAK DHDDS CLRN1 BEST1
15 cone-rod dystrophy 2 27.7 USH2A MAK DHDDS CLRN1 BEST1 BBS2
16 neuroretinitis 10.7
17 retinitis 10.7
18 night blindness 10.3
19 deafness, autosomal recessive 31 10.2 USH2A CLRN1
20 usher syndrome, type ij 10.2 USH2A CLRN1
21 retinitis pigmentosa 51 10.2
22 retinitis pigmentosa 39 10.2
23 usher syndrome, type iiib 10.2 USH2A CLRN1
24 usher syndrome, type iid 10.2 USH2A CLRN1
25 retinitis pigmentosa 71 10.2 USH2A DHDDS
26 bardet-biedl syndrome 15 10.2 TTC8 BBS1
27 deafness, autosomal recessive 23 10.2 USH2A CLRN1
28 usher syndrome, type if 10.1 USH2A CLRN1
29 bardet-biedl syndrome 16 10.1 TTC8 BBS1
30 usher syndrome, type iic 10.1 USH2A CLRN1
31 digenic disease 10.1 USH2A CLRN1
32 pigmented paravenous chorioretinal atrophy 10.1 TTC8 ABCA4
33 coloboma of macula 10.0
34 porokeratosis 3, multiple types 10.0
35 hyper-igd syndrome 10.0
36 ataxia and polyneuropathy, adult-onset 10.0
37 retinitis pigmentosa 25 10.0
38 leber congenital amaurosis 3 10.0
39 mevalonic aciduria 10.0
40 retinitis pigmentosa 61 10.0
41 retinal dystrophy, iris coloboma, and comedogenic acne syndrome 10.0
42 bardet-biedl syndrome 2 10.0
43 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
44 perching syndrome 10.0
45 cone-rod dystrophy and hearing loss 2 10.0
46 acne 10.0
47 coloboma of iris 10.0
48 inherited retinal disorder 10.0
49 usher syndrome, type id 10.0 USH2A CLRN1
50 nystagmus 7, congenital, autosomal dominant 10.0 BBS2 ABCA4

Graphical network of the top 20 diseases related to Nonsyndromic Retinitis Pigmentosa:



Diseases related to Nonsyndromic Retinitis Pigmentosa

Symptoms & Phenotypes for Nonsyndromic Retinitis Pigmentosa

MGI Mouse Phenotypes related to Nonsyndromic Retinitis Pigmentosa:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.7 ABCA4 ARL6 BBS1 BBS2 CLRN1 TTC8
2 vision/eye MP:0005391 9.23 ABCA4 ARL6 BBS1 BBS2 BEST1 CLRN1
3 taste/olfaction MP:0005394 9.13 BBS1 BBS2 TTC8

Drugs & Therapeutics for Nonsyndromic Retinitis Pigmentosa

Search Clinical Trials , NIH Clinical Center for Nonsyndromic Retinitis Pigmentosa

Genetic Tests for Nonsyndromic Retinitis Pigmentosa

Anatomical Context for Nonsyndromic Retinitis Pigmentosa

MalaCards organs/tissues related to Nonsyndromic Retinitis Pigmentosa:

40
Eye, Retina

Publications for Nonsyndromic Retinitis Pigmentosa

Articles related to Nonsyndromic Retinitis Pigmentosa:

(show top 50) (show all 122)
# Title Authors PMID Year
1
Five-Year Safety and Performance Results from the Argus II Retinal Prosthesis System Clinical Trial. 25
27453256 2016
2
Results at 2 Years after Gene Therapy for RPE65-Deficient Leber Congenital Amaurosis and Severe Early-Childhood-Onset Retinal Dystrophy. 25
27102010 2016
3
Prosthetic vision: devices, patient outcomes and retinal research. 25
26390902 2015
4
Long-term effect of gene therapy on Leber's congenital amaurosis. 25
25938638 2015
5
Cellular strategies for retinal repair by photoreceptor replacement. 25
25660226 2015
6
Improvement and decline in vision with gene therapy in childhood blindness. 25
25936984 2015
7
Human embryonic stem cell-derived retinal pigment epithelium in patients with age-related macular degeneration and Stargardt's macular dystrophy: follow-up of two open-label phase 1/2 studies. 25
25458728 2015
8
Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing. 25
24938718 2014
9
Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements. 25
24154662 2014
10
Genes and mutations causing retinitis pigmentosa. 25
23701314 2013
11
Randomized trial of ciliary neurotrophic factor delivered by encapsulated cell intraocular implants for retinitis pigmentosa. 25
23668681 2013
12
Adaptive optics retinal imaging--clinical opportunities and challenges. 25
23621343 2013
13
Three-year follow-up after unilateral subretinal delivery of adeno-associated virus in patients with Leber congenital Amaurosis type 2. 25
23474247 2013
14
Lutein + zeaxanthin and omega-3 fatty acids for age-related macular degeneration: the Age-Related Eye Disease Study 2 (AREDS2) randomized clinical trial. 25
23644932 2013
15
Mutations in the X-linked retinitis pigmentosa genes RPGR and RP2 found in 8.5% of families with a provisional diagnosis of autosomal dominant retinitis pigmentosa. 25
23372056 2013
16
Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis. 25
23940504 2013
17
Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease. 25
23150612 2012
18
Recommendations for genetic testing of inherited eye diseases: report of the American Academy of Ophthalmology task force on genetic testing. 25
22944025 2012
19
Next-generation genetic testing for retinitis pigmentosa. 25
22334370 2012
20
ω-3 intake and visual acuity in patients with retinitis pigmentosa receiving vitamin A. 25
22332205 2012
21
A paradigm shift in the delivery of services for diagnosis of inherited retinal disease. 25
22581970 2012
22
Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years. 25
21911650 2012
23
Ocular changes in pregnancy. 25
22344013 2012
24
Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases. 25
22277662 2012
25
The molecular basis of human retinal and vitreoretinal diseases. 25
20362068 2010
26
The neuro-ophthalmology of mitochondrial disease. 25
20471050 2010
27
How strong is the evidence that nutritional supplements slow the progression of retinitis pigmentosa? 25
20385948 2010
28
Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait. 25
20212494 2010
29
Clinical trial of lutein in patients with retinitis pigmentosa receiving vitamin A. 25
20385935 2010
30
Intravitreal ranibizumab in the treatment of cystoid macular edema associated with retinitis pigmentosa. 25
20028262 2009
31
Thickness of receptor and post-receptor retinal layers in patients with retinitis pigmentosa measured with frequency-domain optical coherence tomography. 25
19011017 2009
32
Intravitreal bevacizumab (Avastin) injection in retinitis pigmentosa. 25
19274531 2009
33
Ophthalmological abnormalities in children with congenital disorders of glycosylation type I. 25
19019927 2009
34
Unilateral retinitis pigmentosa and cone-rod dystrophy. 25
19668577 2009
35
NT-501: an ophthalmic implant of polymer-encapsulated ciliary neurotrophic factor-producing cells. 25
18830926 2008
36
Long-term follow-up of retinitis pigmentosa patients with multifocal electroretinography. 25
18566474 2008
37
Accelerated accumulation of lipofuscin pigments in the RPE of a mouse model for ABCA4-mediated retinal dystrophies following Vitamin A supplementation. 25
18515570 2008
38
The prevalence of cystoid macular oedema in retinitis pigmentosa patients determined by optical coherence tomography. 25
18653601 2008
39
Effect of gene therapy on visual function in Leber's congenital amaurosis. 25
18441371 2008
40
Safety and efficacy of gene transfer for Leber's congenital amaurosis. 25
18441370 2008
41
Mutations in known genes account for 58% of autosomal dominant retinitis pigmentosa (adRP). 25
18188946 2008
42
Slowing the degenerative process, long lasting effect of hyperbaric oxygen therapy in retinitis pigmentosa. 25
17674017 2008
43
Treatment of cystoid macular edema in retinitis pigmentosa with intravitreal triamcinolone. 25
17562986 2007
44
Continued use of dorzolamide for the treatment of cystoid macular oedema in patients with retinitis pigmentosa. 25
17215269 2007
45
A non-ancestral RPGR missense mutation in families with either recessive or semi-dominant X-linked retinitis pigmentosa. 25
17480003 2007
46
Perspective on genes and mutations causing retinitis pigmentosa. 25
17296890 2007
47
Retinitis pigmentosa. 25
17032466 2006
48
The evidence for efficacy of omega-3 fatty acids in preventing or slowing the progression of retinitis pigmentosa: a systematic review. 25
16883366 2006
49
Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families. 25
16799052 2006
50
Lutein supplementation in retinitis pigmentosa: PC-based vision assessment in a randomized double-masked placebo-controlled clinical trial [NCT00029289]. 25
16759390 2006

Variations for Nonsyndromic Retinitis Pigmentosa

Expression for Nonsyndromic Retinitis Pigmentosa

Search GEO for disease gene expression data for Nonsyndromic Retinitis Pigmentosa.

Pathways for Nonsyndromic Retinitis Pigmentosa

Pathways related to Nonsyndromic Retinitis Pigmentosa according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.98 TTC8 BBS2 BBS1 ARL6
2
Show member pathways
10.95 TTC8 BBS2 BBS1 ARL6

GO Terms for Nonsyndromic Retinitis Pigmentosa

Cellular components related to Nonsyndromic Retinitis Pigmentosa according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.85 TTC8 MAK BBS2 BBS1 ARL6
2 cell projection GO:0042995 9.85 USH2A TTC8 MAK BBS2 BBS1 ARL6
3 microtubule organizing center GO:0005815 9.73 TTC8 MAK BBS2 BBS1
4 axoneme GO:0005930 9.58 MAK BBS1 ARL6
5 ciliary basal body GO:0036064 9.56 USH2A TTC8 BBS2 BBS1
6 cilium GO:0005929 9.55 TTC8 MAK BBS2 BBS1 ARL6
7 photoreceptor connecting cilium GO:0032391 9.5 USH2A TTC8 MAK
8 photoreceptor inner segment GO:0001917 9.49 USH2A MAK
9 stereocilium GO:0032420 9.48 CLRN1 BBS2
10 BBSome GO:0034464 9.13 TTC8 BBS2 BBS1
11 ciliary membrane GO:0060170 8.92 TTC8 BBS2 BBS1 ARL6

Biological processes related to Nonsyndromic Retinitis Pigmentosa according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 9.8 TTC8 BBS2 BBS1 ARL6
2 response to stimulus GO:0050896 9.7 USH2A CLRN1 BEST1 BBS2 BBS1 ARL6
3 cell projection organization GO:0030030 9.67 TTC8 BBS2 BBS1 ARL6
4 cilium assembly GO:0060271 9.65 TTC8 MAK BBS2 BBS1 ARL6
5 non-motile cilium assembly GO:1905515 9.5 TTC8 BBS2 BBS1
6 visual perception GO:0007601 9.5 USH2A CLRN1 BEST1 BBS2 BBS1 ARL6
7 protein localization to cilium GO:0061512 9.48 BBS1 ARL6
8 Golgi to plasma membrane protein transport GO:0043001 9.46 BBS2 BBS1
9 melanosome transport GO:0032402 9.43 BBS2 ARL6
10 sensory perception of light stimulus GO:0050953 9.4 USH2A CLRN1
11 photoreceptor cell maintenance GO:0045494 9.1 USH2A MAK CLRN1 BBS2 BBS1 ABCA4

Molecular functions related to Nonsyndromic Retinitis Pigmentosa according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II repressing transcription factor binding GO:0001103 8.8 TTC8 BBS2 BBS1

Sources for Nonsyndromic Retinitis Pigmentosa

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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