MCID: NNS043
MIFTS: 31

Nonsyndromic Retinitis Pigmentosa

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Nonsyndromic Retinitis Pigmentosa

MalaCards integrated aliases for Nonsyndromic Retinitis Pigmentosa:

Name: Nonsyndromic Retinitis Pigmentosa 24

Classifications:



Summaries for Nonsyndromic Retinitis Pigmentosa

MalaCards based summary : Nonsyndromic Retinitis Pigmentosa is related to usher syndrome and bardet-biedl 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 retina, and related phenotypes are nervous system and hearing/vestibular/ear

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 Nonsyndromic Retinitis Pigmentosa

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

(show all 30)
# Related Disease Score Top Affiliating Genes
1 usher syndrome 29.3 CLRN1 USH2A
2 bardet-biedl syndrome 28.8 BBS1 BBS2 TTC8
3 retinitis pigmentosa 26.7 BBS1 BBS2 CLRN1 MVK TTC8 USH2A
4 bietti crystalline corneoretinal dystrophy 11.0
5 leber congenital amaurosis 4 10.5
6 retinitis 10.5
7 retinitis pigmentosa-deafness syndrome 10.1
8 usher syndrome, type iiia 10.0 CLRN1 USH2A
9 usher syndrome, type iic 10.0 CLRN1 USH2A
10 usher syndrome, type iia 9.9
11 usher syndrome, type iid 9.9
12 bardet-biedl syndrome 2 9.9
13 bardet-biedl syndrome 10 9.9
14 bardet-biedl syndrome 11 9.9
15 bardet-biedl syndrome 12 9.9
16 bardet-biedl syndrome 6 9.9 BBS1 BBS2
17 mckusick-kaufman syndrome 9.9 BBS1 BBS2
18 bardet-biedl syndrome 3 9.9 BBS1 BBS2
19 bardet-biedl syndrome 14 9.9 BBS1 BBS2
20 bardet-biedl syndrome 4 9.9 BBS1 BBS2
21 bardet-biedl syndrome 17 9.8 BBS1 BBS2
22 usher syndrome type 2 9.8 CLRN1 USH2A
23 alstrom syndrome 9.7 BBS1 BBS2
24 bardet-biedl syndrome 13 9.7 BBS1 BBS2
25 usher syndrome, type i 9.7 CLRN1 USH2A
26 bardet-biedl syndrome 8 9.5 BBS1 BBS2 TTC8
27 bardet-biedl syndrome 18 9.5 BBS1 BBS2 TTC8
28 bardet-biedl syndrome 1 9.5 BBS1 BBS2 TTC8
29 polydactyly 9.5 BBS1 BBS2 TTC8
30 fundus dystrophy 9.4 BBS1 BBS2 USH2A

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 9.55 BBS1 BBS2 CLRN1 TTC8 USH2A
2 hearing/vestibular/ear MP:0005377 9.43 USH2A BBS1 CLRN1
3 taste/olfaction MP:0005394 9.13 BBS1 BBS2 TTC8
4 vision/eye MP:0005391 9.02 BBS1 BBS2 CLRN1 TTC8 USH2A

Drugs & Therapeutics for Nonsyndromic Retinitis Pigmentosa

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Dose-escalation Study to Evaluate the Safety and Tolerability of GS030 in Subjects With Retinitis Pigmentosa Not yet recruiting NCT03326336 Phase 1, Phase 2
2 Rate of Progression in USH2A Related Retinal Degeneration Recruiting NCT03146078

Search 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:

41
Retina

Publications for Nonsyndromic Retinitis Pigmentosa

Articles related to Nonsyndromic Retinitis Pigmentosa:

(show all 11)
# Title Authors Year
1
Compound heterozygous variants in IFT140 as a cause of nonsyndromic retinitis pigmentosa. ( 29111861 )
2017
2
Nonsyndromic Retinitis Pigmentosa in the Ashkenazi Jewish Population: Genetic and Clinical Aspects. ( 29276052 )
2017
3
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
4
Alternative Splicing Shapes the Phenotype of a Mutation in BBS8 To Cause Nonsyndromic Retinitis Pigmentosa. ( 25776555 )
2015
5
Nonsyndromic retinitis pigmentosa is highly prevalent in the Jerusalem region with a high frequency of founder mutations. ( 26261414 )
2015
6
Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa. ( 25541840 )
2015
7
Mutations in the mevalonate kinase (MVK) gene cause nonsyndromic retinitis pigmentosa. ( 24084495 )
2013
8
BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome. ( 23143442 )
2012
9
Seven novel mutations in the long isoform of the USH2A gene in Chinese families with nonsyndromic retinitis pigmentosa and Usher syndrome Type II. ( 21686329 )
2011
10
CLRN1 mutations cause nonsyndromic retinitis pigmentosa. ( 21310491 )
2011
11
A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa. ( 20451172 )
2010

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
11.86 BBS1 BBS2 TTC8
2
Show member pathways
10.83 BBS1 BBS2 TTC8

GO Terms for Nonsyndromic Retinitis Pigmentosa

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

# Name GO ID Score Top Affiliating Genes
1 microtubule organizing center GO:0005815 9.58 BBS1 BBS2 TTC8
2 cell projection GO:0042995 9.56 BBS1 BBS2 TTC8 USH2A
3 cilium GO:0005929 9.54 BBS1 BBS2 TTC8
4 microvillus GO:0005902 9.43 BBS2 CLRN1
5 ciliary membrane GO:0060170 9.33 BBS1 BBS2 TTC8
6 photoreceptor connecting cilium GO:0032391 9.32 TTC8 USH2A
7 ciliary basal body GO:0036064 9.26 BBS1 BBS2 TTC8 USH2A
8 BBSome GO:0034464 8.8 BBS1 BBS2 TTC8

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 9.65 BBS1 BBS2 TTC8
2 response to stimulus GO:0050896 9.62 BBS1 BBS2 CLRN1 USH2A
3 cilium assembly GO:0060271 9.58 BBS1 BBS2 TTC8
4 cell projection organization GO:0030030 9.54 BBS1 BBS2 TTC8
5 sensory perception of sound GO:0007605 9.49 CLRN1 USH2A
6 fat cell differentiation GO:0045444 9.46 BBS2 TTC8
7 Golgi to plasma membrane protein transport GO:0043001 9.43 BBS1 BBS2
8 non-motile cilium assembly GO:1905515 9.33 BBS1 BBS2 TTC8
9 sensory perception of light stimulus GO:0050953 9.26 CLRN1 USH2A
10 visual perception GO:0007601 9.26 BBS1 BBS2 CLRN1 USH2A
11 photoreceptor cell maintenance GO:0045494 8.92 BBS1 BBS2 CLRN1 USH2A

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 BBS1 BBS2 TTC8

Sources for Nonsyndromic Retinitis Pigmentosa

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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