MCID: RTN047
MIFTS: 30

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 57 12 53 75 29 13 6 15 73
Rp18 57 12 75
Retinitis Pigmentosa, Type 18 40
Rp 18 53

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
retinitis pigmentosa 18:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 601414
Disease Ontology 12 DOID:0110356
ICD10 33 H35.5
MedGen 42 C1832378
MeSH 44 D012174
UMLS 73 C1832378

Summaries for Retinitis Pigmentosa 18

UniProtKB/Swiss-Prot : 75 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 rod-cone dystrophy and scotoma

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 29.4 IMPDH1 PRPF3 RP9
2 retinitis pigmentosa 26.9 IMPDH1 PRPF3 PRPF31 PRPF4 PRPF8 RP9
3 leber congenital amaurosis 4 10.1
4 retinitis pigmentosa 11 9.8 PRPF31 RP9
5 retinitis pigmentosa 10 9.8 IMPDH1 RP9
6 retinitis pigmentosa 9 9.6 IMPDH1 RP9
7 retinitis pigmentosa 13 8.5 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:

57
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:

32
# Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 32 HP:0000510
2 scotoma 32 HP:0000575
3 nyctalopia 32 HP:0000662
4 progressive visual field defects 32 HP:0007987
5 retinal arteriolar constriction 32 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 29 PRPF3

Anatomical Context for Retinitis Pigmentosa 18

MalaCards organs/tissues related to Retinitis Pigmentosa 18:

41
Bone, Eye

Publications for Retinitis Pigmentosa 18

Variations for Retinitis Pigmentosa 18

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

75
# 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 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
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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