RP31
MCID: RTN060
MIFTS: 37

Retinitis Pigmentosa 31 (RP31)

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

Aliases & Classifications for Retinitis Pigmentosa 31

MalaCards integrated aliases for Retinitis Pigmentosa 31:

Name: Retinitis Pigmentosa 31 57 12 20 72 29 13 6 15 70
Rp31 57 12 72
Retinitis Pigmentosa, Type 31 39
Rp 31 20

Characteristics:

HPO:

31
retinitis pigmentosa 31:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110391
OMIM® 57 609923
OMIM Phenotypic Series 57 PS268000
MeSH 44 D012174
ICD10 32 H35.5
MedGen 41 C1835923
UMLS 70 C1835923

Summaries for Retinitis Pigmentosa 31

UniProtKB/Swiss-Prot : 72 Retinitis pigmentosa 31: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.

MalaCards based summary : Retinitis Pigmentosa 31, also known as rp31, is related to retinitis and retinitis pigmentosa. An important gene associated with Retinitis Pigmentosa 31 is TOPORS (TOP1 Binding Arginine/Serine Rich Protein, E3 Ubiquitin Ligase). Affiliated tissues include eye and retina, and related phenotypes are abnormal electroretinogram and visual field defect

Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation in the TOPORS gene on chromosome 9p21.

More information from OMIM: 609923 PS268000

Related Diseases for Retinitis Pigmentosa 31

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 Retinitis Pigmentosa 31 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 57)
# Related Disease Score Top Affiliating Genes
1 retinitis 28.2 TOPORS RPGR RP9 RP1L1 PRPF8 PRPF31
2 retinitis pigmentosa 26.9 TTC8 TOPORS RPGR RP9 RP1L1 PRPF8
3 retinitis pigmentosa 7 10.3 RPGR RP9
4 retinitis pigmentosa 6 10.3 RPGR RP9
5 retinitis pigmentosa 67 10.2 PCARE C8orf37
6 retinitis pigmentosa 19 10.2 RPGR RP9
7 retinitis pigmentosa 71 10.2 PCARE C8orf37
8 retinitis pigmentosa 20 10.2 RPGR RP9
9 retinitis pigmentosa 4 10.2 RPGR RP9
10 retinitis pigmentosa 40 10.1 RPGR PRPF31
11 retinitis pigmentosa 10 10.1 RPGR RP9
12 usher syndrome, type i 10.1 RPGR PCARE FSCN2
13 retinitis pigmentosa 63 10.1 TOPORS PRPF31 C8orf37
14 night blindness 10.1 TOPORS RPGR PRPF31
15 retinitis pigmentosa 17 10.1 RPGR RP9 FSCN2
16 chronic interstitial cystitis 10.1 FSCN2 FAM161A C8orf37
17 usher syndrome type 2 10.1 TOPORS RPGR PCARE
18 occult macular dystrophy 10.0 RP1L1 PCARE
19 gyrate atrophy of choroid and retina 10.0 RPGR RP9 PCARE
20 retinitis pigmentosa 14 10.0 RPGR RP9 PRPF8
21 mandibulofacial dysostosis, guion-almeida type 9.9 PRPF8 PRPF3
22 pseudoretinitis pigmentosa 9.9 PRPF31 PRPF3 FSCN2
23 pigmented paravenous chorioretinal atrophy 9.9 TTC8 C8orf37
24 neuroretinitis 9.9
25 bardet-biedl syndrome 18 9.9 TTC8 C8orf37
26 choroidal dystrophy, central areolar, 1 9.9 TOPORS PCARE
27 bardet-biedl syndrome 19 9.9 TTC8 C8orf37
28 microcephalic osteodysplastic primordial dwarfism, type i 9.8 PRPF8 PRPF31 PRPF3
29 isolated growth hormone deficiency, type ia 9.8 PRPF8 PRPF31 PRPF3
30 bardet-biedl syndrome 11 9.8 TTC8 C8orf37
31 cone-rod dystrophy 16 9.7 RP1L1 PCARE FAM161A C8orf37
32 retinitis pigmentosa 28 9.7 TOPORS RPGR PCARE FAM161A C8orf37
33 macular degeneration, age-related, 1 9.7 RPGR RP1L1 PRPF31 FSCN2
34 vitelliform macular dystrophy 9.7 RPGR RP1L1 PRPF31 PCARE
35 bardet-biedl syndrome 14 9.7 TTC8 C8orf37
36 cone dystrophy 9.7 RPGR RP1L1 PRPF31
37 joubert syndrome 1 9.7 RPGR PCARE FAM161A C8orf37
38 retinitis pigmentosa 33 9.7 RP9 PRPF8 PRPF31 PRPF3
39 retinitis pigmentosa 18 9.7 RP9 PRPF8 PRPF31 PRPF3
40 retinitis pigmentosa 11 9.7 RP9 PRPF8 PRPF31 PRPF3
41 retinitis pigmentosa 13 9.5 RPGR RP9 PRPF8 PRPF31 PRPF3
42 retinal degeneration 9.4 TOPORS RPGR PRPF3 PCARE FSCN2 FAM161A
43 usher syndrome, type iiia 9.4 TOPORS RP9 PRPF8 PRPF31 PRPF3 FSCN2
44 congenital stationary night blindness 9.3 RPGR PRPF8 PRPF31 PRPF3 PCARE FSCN2
45 retinitis pigmentosa 55 9.3 TTC8 RP1L1 PCARE FAM161A C8orf37
46 eye degenerative disease 9.2 RPGR RP9 RP1L1 PRPF8 PRPF31 PRPF3
47 retinitis pigmentosa 74 9.2 TTC8 TOPORS RP1L1 PCARE FAM161A C8orf37
48 retinitis pigmentosa 62 9.2 TTC8 TOPORS RP1L1 PCARE FAM161A C8orf37
49 retinitis pigmentosa 54 9.2 TTC8 TOPORS RP1L1 PCARE FAM161A C8orf37
50 bardet-biedl syndrome 9.2 TTC8 RPGR PRPF8 PRPF31 PCARE C8orf37

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 31:



Diseases related to Retinitis Pigmentosa 31

Symptoms & Phenotypes for Retinitis Pigmentosa 31

Human phenotypes related to Retinitis Pigmentosa 31:

31
# Description HPO Frequency HPO Source Accession
1 abnormal electroretinogram 31 frequent (33%) HP:0000512
2 visual field defect 31 frequent (33%) HP:0001123
3 rod-cone dystrophy 31 HP:0000510
4 attenuation of retinal blood vessels 31 HP:0007843
5 retinal pigment epithelial atrophy 31 HP:0007722

Clinical features from OMIM®:

609923 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Retinitis Pigmentosa 31:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.81 C8orf37 FAM161A FSCN2 PCARE PSMC1 RP1L1
2 pigmentation MP:0001186 9.35 PCARE PRPF3 PRPF31 PRPF8 RPGR
3 vision/eye MP:0005391 9.32 C8orf37 FAM161A FSCN2 PCARE PRPF3 PRPF31

Drugs & Therapeutics for Retinitis Pigmentosa 31

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 31

Genetic Tests for Retinitis Pigmentosa 31

Genetic tests related to Retinitis Pigmentosa 31:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 31 29 TOPORS

Anatomical Context for Retinitis Pigmentosa 31

MalaCards organs/tissues related to Retinitis Pigmentosa 31:

40
Eye, Retina

Publications for Retinitis Pigmentosa 31

Articles related to Retinitis Pigmentosa 31:

# Title Authors PMID Year
1
Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy. 6 57 61
17924349 2007
2
A new locus (RP31) for autosomal dominant retinitis pigmentosa maps to chromosome 9p. 61 57 6
16189705 2005
3
The complete genomic sequence of the novel myovirus RP13 infecting Ralstonia solanacearum, the causative agent of bacterial wilt. 61
33387023 2021
4
Biocontrol of Rice Seedling Rot Disease Caused by Curvularia lunata and Helminthosporium oryzae by Epiphytic Yeasts from Plant Leaves. 61
32365626 2020
5
Yeast Associated with Rice Phylloplane and Their Contribution to Control of Rice Sheath Blight Disease. 61
32138375 2020
6
Biological Control of Fruit Rot and Anthracnose of Postharvest Mango by Antagonistic Yeasts from Economic Crops Leaves. 61
32106522 2020
7
Functional Analysis and Genome Mining Reveal High Potential of Biocontrol and Plant Growth Promotion in Nodule-Inhabiting Bacteria Within Paenibacillus polymyxa Complex. 61
33537018 2020
8
Plant growth-promoting traits of epiphytic and endophytic yeasts isolated from rice and sugar cane leaves in Thailand. 61
25110131 2014
9
Mutations in the TOPORS gene cause 1% of autosomal dominant retinitis pigmentosa. 61
18509552 2008
10
Functional characterization of the propeptide of Plasmodium falciparum subtilisin-like protease-1. 61
12764150 2003

Variations for Retinitis Pigmentosa 31

ClinVar genetic disease variations for Retinitis Pigmentosa 31:

6 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TOPORS NM_005802.5(TOPORS):c.2474dup (p.Tyr825Ter) Duplication Pathogenic 1656 rs1587620953 GRCh37: 9:32542048-32542049
GRCh38: 9:32542050-32542051
2 TOPORS NM_005802.5(TOPORS):c.2552_2553GA[2] (p.Glu852fs) Microsatellite Pathogenic 438066 rs527236116 GRCh37: 9:32541966-32541967
GRCh38: 9:32541968-32541969
3 TOPORS NM_005802.5(TOPORS):c.2546_2549CAGA[1] (p.Asp850fs) Microsatellite Likely pathogenic 560511 rs1563983151 GRCh37: 9:32541970-32541973
GRCh38: 9:32541972-32541975
4 TOPORS NM_005802.5(TOPORS):c.2319_2320delinsCG (p.Ser774Gly) Indel Uncertain significance 599169 rs1563983313 GRCh37: 9:32542203-32542204
GRCh38: 9:32542205-32542206
5 TOPORS NM_005802.5(TOPORS):c.2006G>A (p.Arg669Lys) SNV Uncertain significance 618438 rs1563983554 GRCh37: 9:32542517-32542517
GRCh38: 9:32542519-32542519
6 TOPORS NM_005802.5(TOPORS):c.842T>A (p.Ile281Asn) SNV Uncertain significance 811354 rs1302485735 GRCh37: 9:32543681-32543681
GRCh38: 9:32543683-32543683
7 TOPORS NM_005802.5(TOPORS):c.223T>C (p.Phe75Leu) SNV Uncertain significance 931667 GRCh37: 9:32544300-32544300
GRCh38: 9:32544302-32544302
8 TOPORS NM_005802.5(TOPORS):c.1379G>C (p.Gly460Ala) SNV Uncertain significance 523486 rs146483990 GRCh37: 9:32543144-32543144
GRCh38: 9:32543146-32543146
9 TOPORS NM_005802.5(TOPORS):c.2666A>G (p.His889Arg) SNV Uncertain significance 523487 rs762457246 GRCh37: 9:32541857-32541857
GRCh38: 9:32541859-32541859
10 TOPORS NM_005802.5(TOPORS):c.2160C>T (p.Tyr720=) SNV Benign 284409 rs74328058 GRCh37: 9:32542363-32542363
GRCh38: 9:32542365-32542365
11 TOPORS NM_005802.5(TOPORS):c.2995A>T (p.Arg999Ter) SNV not provided 489321 rs1554671322 GRCh37: 9:32541528-32541528
GRCh38: 9:32541530-32541530

Expression for Retinitis Pigmentosa 31

Search GEO for disease gene expression data for Retinitis Pigmentosa 31.

Pathways for Retinitis Pigmentosa 31

GO Terms for Retinitis Pigmentosa 31

Cellular components related to Retinitis Pigmentosa 31 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.91 TTC8 RPGR RP1L1 PCARE FSCN2 FAM161A
2 nuclear speck GO:0016607 9.76 TOPORS PRPF8 PRPF31 PRPF3
3 spliceosomal complex GO:0005681 9.65 PRPF8 PRPF31 PRPF3
4 photoreceptor outer segment GO:0001750 9.58 RPGR RP1L1 PCARE
5 photoreceptor inner segment GO:0001917 9.54 PCARE FAM161A C8orf37
6 U2-type precatalytic spliceosome GO:0071005 9.5 PRPF8 PRPF31 PRPF3
7 ciliary basal body GO:0036064 9.46 TTC8 TOPORS RPGR FAM161A
8 U4/U6 x U5 tri-snRNP complex GO:0046540 9.43 PRPF8 PRPF31 PRPF3
9 cilium GO:0005929 9.35 TTC8 RPGR RP1L1 PCARE FAM161A
10 photoreceptor connecting cilium GO:0032391 8.92 TTC8 TOPORS RP1L1 FAM161A

Biological processes related to Retinitis Pigmentosa 31 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.71 RPGR RP1L1 PCARE FAM161A
2 mRNA splicing, via spliceosome GO:0000398 9.63 PRPF8 PRPF31 PRPF3
3 cilium assembly GO:0060271 9.61 TTC8 RPGR FAM161A
4 RNA splicing GO:0008380 9.56 RP9 PRPF8 PRPF31 PRPF3
5 cell projection organization GO:0030030 9.46 TTC8 RPGR RP1L1 FAM161A
6 RNA splicing, via transesterification reactions GO:0000375 9.37 PRPF8 PRPF3
7 photoreceptor cell outer segment organization GO:0035845 9.32 TOPORS PCARE
8 spliceosomal tri-snRNP complex assembly GO:0000244 9.13 PRPF8 PRPF31 PRPF3
9 visual perception GO:0007601 9.02 RPGR RP1L1 PCARE FSCN2 FAM161A

Molecular functions related to Retinitis Pigmentosa 31 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA binding GO:0003723 9.1 RPGR RP9 PSMC1 PRPF8 PRPF31 PRPF3

Sources for Retinitis Pigmentosa 31

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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