MCID: RTN047
MIFTS: 32

Retinitis Pigmentosa 18

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Retinitis Pigmentosa 18

MalaCards integrated aliases for Retinitis Pigmentosa 18:

Name: Retinitis Pigmentosa 18 53 12 49 71 28 13 14 69
Rp18 53 12 71
Rp 18 49

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
retinitis pigmentosa 18:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 601414
Disease Ontology 12 DOID:0110356
ICD10 32 H35.5
MedGen 39 C1832378
MeSH 41 D012174
UMLS 69 C1832378

Summaries for Retinitis Pigmentosa 18

UniProtKB/Swiss-Prot : 71 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, and has symptoms including nyctalopia, rod-cone dystrophy and progressive visual field defects. 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.

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 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 29.7 IMPDH1 PRPF3 RP9
2 retinitis pigmentosa 27.8 IMPDH1 PRPF3 PRPF31 PRPF4 PRPF8 RP9
3 leber congenital amaurosis 4 10.0
4 retinitis pigmentosa 10 9.9 IMPDH1 RP9
5 retinitis pigmentosa 11 9.9 PRPF31 RP9
6 retinitis pigmentosa 9 9.8 IMPDH1 RP9
7 retinitis pigmentosa 13 9.2 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

Symptoms via clinical synopsis from OMIM:

53
Eyes:
night blindness
peripheral fundus bone spicule formation
constricted retinal arterioles
progressive visual field defects
mid-peripheral ring scotomas


Clinical features from OMIM:

601414

Human phenotypes related to Retinitis Pigmentosa 18:

31
# Description HPO Frequency HPO Source Accession
1 nyctalopia 31 HP:0000662
2 rod-cone dystrophy 31 HP:0000510
3 progressive visual field defects 31 HP:0007987
4 scotoma 31 HP:0000575
5 retinal arteriolar constriction 31 HP:0008043

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 28 PRPF3

Anatomical Context for Retinitis Pigmentosa 18

MalaCards organs/tissues related to Retinitis Pigmentosa 18:

38
Bone, Eye

Publications for Retinitis Pigmentosa 18

Articles related to Retinitis Pigmentosa 18:

# Title Authors Year
1
Refined genetic mapping of autosomal dominant retinitis pigmentosa locus RP18 reduces the critical region to 2 cM between D1S442 and D1S2858 on chromosome 1q. ( 9600251 )
1998
2
A ninth locus (RP18) for autosomal dominant retinitis pigmentosa maps in the pericentromeric region of chromosome 1. ( 8842740 )
1996

Variations for Retinitis Pigmentosa 18

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

71
# 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.1477C> T (p.Pro493Ser) single nucleotide variant Pathogenic rs121434242 GRCh37 Chromosome 1, 150316688: 150316688
3 PRPF3 NM_004698.3(PRPF3): c.1466C> A (p.Ala489Asp) single nucleotide variant Pathogenic rs121434243 GRCh37 Chromosome 1, 150316677: 150316677

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 9.56 PRPF3 PRPF31 PRPF4 PRPF8
2 Cajal body GO:0015030 9.33 PRPF3 PRPF31 PRPF4
3 spliceosomal complex GO:0005681 9.26 PRPF3 PRPF31 PRPF4 PRPF8
4 U4/U6 x U5 tri-snRNP complex GO:0046540 8.92 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 skeletal muscle cell differentiation GO:0035914 9.37 KLHL41 SCX
4 RNA splicing GO:0008380 9.35 PRPF3 PRPF31 PRPF4 PRPF8 RP9
5 RNA splicing, via transesterification reactions GO:0000375 9.33 PRPF3 PRPF4 PRPF8
6 spliceosomal tri-snRNP complex assembly GO:0000244 8.8 PRPF3 PRPF31 PRPF8

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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