RP18
MCID: RTN047
MIFTS: 35

Retinitis Pigmentosa 18 (RP18)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 18

MalaCards integrated aliases for Retinitis Pigmentosa 18:

Name: Retinitis Pigmentosa 18 58 12 54 76 30 13 6 15 74
Rp18 58 12 76
Retinitis Pigmentosa, Type 18 41
Rp 18 54

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
retinitis pigmentosa 18:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110356
OMIM 58 601414
MeSH 45 D012174
ICD10 34 H35.5
MedGen 43 C1832378
UMLS 74 C1832378

Summaries for Retinitis Pigmentosa 18

UniProtKB/Swiss-Prot : 76 Retinitis pigmentosa 18: 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 18, also known as rp18, is related to retinitis and retinitis pigmentosa. An important gene associated with Retinitis Pigmentosa 18 is PRPF3 (Pre-MRNA Processing Factor 3), and among its related pathways/superpathways is mRNA Splicing - Major Pathway. Affiliated tissues include bone and eye, and related phenotypes are nyctalopia and rod-cone dystrophy

Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation in the PRPF3 gene on chromosome 1q21.

Description from OMIM: 601414

Related Diseases for Retinitis Pigmentosa 18

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
Nonsyndromic Retinitis Pigmentosa

Diseases related to Retinitis Pigmentosa 18 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 retinitis 30.2 IMPDH1 PRPF3 RP9
2 retinitis pigmentosa 29.4 IMPDH1 PRPF3 PRPF31 PRPF4 PRPF8 RP9
3 leber congenital amaurosis 4 10.3
4 retinitis pigmentosa 11 9.9 PRPF31 RP9
5 retinitis pigmentosa 10 9.9 IMPDH1 RP9
6 retinitis pigmentosa 9 9.8 IMPDH1 RP9
7 retinal disease 9.6 IMPDH1 PRPF3 PRPF31 PRPF8
8 retinitis pigmentosa 13 9.3 IMPDH1 PRPF3 PRPF31 PRPF4 PRPF8 RP9

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 18:



Diseases related to Retinitis Pigmentosa 18

Symptoms & Phenotypes for Retinitis Pigmentosa 18

Human phenotypes related to Retinitis Pigmentosa 18:

33
# Description HPO Frequency HPO Source Accession
1 nyctalopia 33 HP:0000662
2 rod-cone dystrophy 33 HP:0000510
3 progressive visual field defects 33 HP:0007987
4 scotoma 33 HP:0000575
5 retinal arteriolar constriction 33 HP:0008043

Symptoms via clinical synopsis from OMIM:

58
Eyes:
progressive visual field defects
night blindness
peripheral fundus bone spicule formation
constricted retinal arterioles
mid-peripheral ring scotomas

Clinical features from OMIM:

601414

MGI Mouse Phenotypes related to Retinitis Pigmentosa 18:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.02 BMPER IMPDH1 PRPF3 PRPF31 PRPF8

Drugs & Therapeutics for Retinitis Pigmentosa 18

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 18

Genetic Tests for Retinitis Pigmentosa 18

Genetic tests related to Retinitis Pigmentosa 18:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 18 30 PRPF3

Anatomical Context for Retinitis Pigmentosa 18

MalaCards organs/tissues related to Retinitis Pigmentosa 18:

42
Bone, Eye

Publications for Retinitis Pigmentosa 18

Articles related to Retinitis Pigmentosa 18:

(show all 14)
# Title Authors Year
1
Sequential elution of multiply and singly phosphorylated peptides with polar-copolymerized mixed-mode RP18/SCX material. ( 22531457 )
2012
2
Comparison of monolithic and 1.8-μm RP-18 silica capillary columns using chromatographic data and mass spectrometric identification scores for proteins. ( 21648078 )
2011
3
Chromatographic studies of unusual on-column degradations of aniline compounds on XBridge Shield RP18 column in high pH aqueous mobile phase. ( 21529816 )
2011
4
Lipophilicity measurement of drugs by reversed phase HPLC over Wide pH range using an alkaline-resistant silica-based stationary phase, XBridge Shield RP(18). ( 18827381 )
2008
5
TLC of alkaloids on cyanopropyl bonded stationary phases. Part II. Connection with RP18 and silica plates. ( 18402718 )
2008
6
Polarity parameters of the Symmetry C18 and Chromolith Performance RP-18 monolithic chromatographic columns. ( 16384576 )
2006
7
Fast LC separation of a myoglobin digest: a case study using monolithic and particulate RP 18 silica capillary columns. ( 16736167 )
2006
8
Separation of basic compounds by capillary electrochromatography on an X-Terra RP18 stationary phase. ( 15499930 )
2004
9
Automated determination of selected water-soluble vitamins in tablets using a bench-top robotic system coupled to reversed-phase (RP-18) HPLC with UV detection. ( 12560059 )
2003
10
Determination of zearalenone in grains by high-performance liquid chromatography-tandem mass spectrometry after solid-phase extraction with RP-18 columns or immunoaffinity columns. ( 10551349 )
1999
11
A new dominant retinitis pigmentosa family mapping to the RP18 locus on chromosome 1q11-21. ( 9733043 )
1998
12
Thin-layer chromatographic analysis of phenols on TLC aluminium sheets RP-18 F(254s). ( 15048410 )
1996
13
Preparation of DNA topoisomers by RP-18 high-performance liquid chromatography. ( 1443600 )
1992
14
Multidimensional high-performance liquid chromatography on Pinkerton ISRP and RP18 columns: direct serum injection to quantify creatinine. ( 1429995 )
1992

Variations for Retinitis Pigmentosa 18

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 18:

76
# Symbol AA change Variation ID SNP ID
1 PRPF3 p.Thr494Met VAR_016877 rs121434241
2 PRPF3 p.Pro493Ser VAR_046735 rs121434242

ClinVar genetic disease variations for Retinitis Pigmentosa 18:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PRPF3 NM_004698.3(PRPF3): c.1481C> T (p.Thr494Met) single nucleotide variant Pathogenic rs121434241 GRCh37 Chromosome 1, 150316692: 150316692
2 PRPF3 NM_004698.3(PRPF3): c.1481C> T (p.Thr494Met) single nucleotide variant Pathogenic rs121434241 GRCh38 Chromosome 1, 150344216: 150344216
3 PRPF3 NM_004698.3(PRPF3): c.1477C> T (p.Pro493Ser) single nucleotide variant Pathogenic rs121434242 GRCh37 Chromosome 1, 150316688: 150316688
4 PRPF3 NM_004698.3(PRPF3): c.1477C> T (p.Pro493Ser) single nucleotide variant Pathogenic rs121434242 GRCh38 Chromosome 1, 150344212: 150344212
5 PRPF3 NM_004698.3(PRPF3): c.1466C> A (p.Ala489Asp) single nucleotide variant Pathogenic rs121434243 GRCh37 Chromosome 1, 150316677: 150316677
6 PRPF3 NM_004698.3(PRPF3): c.1466C> A (p.Ala489Asp) single nucleotide variant Pathogenic rs121434243 GRCh38 Chromosome 1, 150344201: 150344201

Expression for Retinitis Pigmentosa 18

Search GEO for disease gene expression data for Retinitis Pigmentosa 18.

Pathways for Retinitis Pigmentosa 18

Pathways related to Retinitis Pigmentosa 18 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.98 PRPF3 PRPF31 PRPF4 PRPF8 RP9

GO Terms for Retinitis Pigmentosa 18

Cellular components related to Retinitis Pigmentosa 18 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear speck GO:0016607 9.62 PRPF3 PRPF31 PRPF4 PRPF8
2 spliceosomal complex GO:0005681 9.46 PRPF3 PRPF31 PRPF4 PRPF8
3 Cajal body GO:0015030 9.43 PRPF3 PRPF31 PRPF4
4 U4/U6 x U5 tri-snRNP complex GO:0046540 9.26 PRPF3 PRPF31 PRPF4 PRPF8
5 U2-type precatalytic spliceosome GO:0071005 8.92 PRPF3 PRPF31 PRPF4 PRPF8
6 nucleus GO:0005634 10.02 IMPDH1 KLHL41 PRPF3 PRPF31 PRPF4 PRPF8

Biological processes related to Retinitis Pigmentosa 18 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mRNA processing GO:0006397 9.62 PRPF3 PRPF31 PRPF4 PRPF8
2 mRNA splicing, via spliceosome GO:0000398 9.56 PRPF3 PRPF31 PRPF4 PRPF8
3 spliceosomal tri-snRNP complex assembly GO:0000244 9.33 PRPF3 PRPF31 PRPF8
4 RNA splicing, via transesterification reactions GO:0000375 9.13 PRPF3 PRPF4 PRPF8
5 RNA splicing GO:0008380 9.02 PRPF3 PRPF31 PRPF4 PRPF8 RP9

Molecular functions related to Retinitis Pigmentosa 18 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA binding GO:0003723 9.55 IMPDH1 PRPF3 PRPF31 PRPF8 RP9
2 U6 snRNA binding GO:0017070 8.96 PRPF4 PRPF8
3 U4 snRNA binding GO:0030621 8.62 PRPF31 PRPF4

Sources for Retinitis Pigmentosa 18

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
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