RP13
MCID: RTN043
MIFTS: 42

Retinitis Pigmentosa 13 (RP13)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 13

MalaCards integrated aliases for Retinitis Pigmentosa 13:

Name: Retinitis Pigmentosa 13 58 12 54 76 30 13 6 15 74
Rp13 58 12 76
Retinitis Pigmentosa, Type 13 41
Rp 13 54

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
incomplete penetrance
onset of night blindness varies among patients from early childhood to mid thirties


HPO:

33
retinitis pigmentosa 13:
Onset and clinical course incomplete penetrance
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110403
OMIM 58 600059
MeSH 45 D012174
ICD10 34 H35.5
MedGen 43 C1838702
UMLS 74 C1838702

Summaries for Retinitis Pigmentosa 13

UniProtKB/Swiss-Prot : 76 Retinitis pigmentosa 13: 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 13, also known as rp13, is related to retinitis and retinitis pigmentosa 11. An important gene associated with Retinitis Pigmentosa 13 is PRPF8 (Pre-MRNA Processing Factor 8), and among its related pathways/superpathways is mRNA Splicing - Major Pathway. The drugs Metformin and Biguanides have been mentioned in the context of this disorder. Affiliated tissues include bone, eye and retina, and related phenotypes are cystoid macular edema and nyctalopia

Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutations in the PRPF8 gene on chromosome 17p13.3.

Description from OMIM: 600059

Related Diseases for Retinitis Pigmentosa 13

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 13 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 retinitis 30.0 IMPDH1 PRPF3 RP9 RPGR
2 retinitis pigmentosa 11 29.7 PRPF31 RP9
3 retinitis pigmentosa 29.2 IMPDH1 PRPF3 PRPF31 PRPF8 RP9 RPGR
4 leber congenital amaurosis 4 10.5
5 miller-dieker lissencephaly syndrome 10.0
6 lissencephaly 10.0
7 retinitis pigmentosa 10 9.9 IMPDH1 RP9
8 retinitis pigmentosa 9 9.9 IMPDH1 RP9
9 retinitis pigmentosa 18 9.3 IMPDH1 PRPF3 PRPF31 PRPF8 RP9
10 retinal disease 9.2 IMPDH1 PRPF3 PRPF31 PRPF8 RPGR

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 13:



Diseases related to Retinitis Pigmentosa 13

Symptoms & Phenotypes for Retinitis Pigmentosa 13

Human phenotypes related to Retinitis Pigmentosa 13:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 cystoid macular edema 33 occasional (7.5%) HP:0011505
2 nyctalopia 33 HP:0000662
3 hypopigmentation of the fundus 33 HP:0007894
4 rod-cone dystrophy 33 HP:0000510
5 constriction of peripheral visual field 33 HP:0001133
6 retinal degeneration 33 HP:0000546

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
retinal degeneration
night blindness
constricted visual fields
attenuated retinal vessels
diffuse bone spicule-like pigment clumping within the neurosensory retina
more

Clinical features from OMIM:

600059

GenomeRNAi Phenotypes related to Retinitis Pigmentosa 13 according to GeneCards Suite gene sharing:

27 (show all 21)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.64 RPGR
2 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.64 PRPF31
3 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.64 PRPF31 PRPF8 RPGR
4 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.64 PRPF31
5 Increased shRNA abundance (Z-score > 2) GR00366-A-135 9.64 PRPF31
6 Increased shRNA abundance (Z-score > 2) GR00366-A-136 9.64 PRPF31
7 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.64 RPGR
8 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.64 RPGR
9 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.64 PRPF8
10 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.64 RPGR
11 Increased shRNA abundance (Z-score > 2) GR00366-A-21 9.64 PRPF31
12 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.64 PRPF8
13 Increased shRNA abundance (Z-score > 2) GR00366-A-45 9.64 RPGR
14 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.64 RPGR
15 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.64 RPGR
16 Increased shRNA abundance (Z-score > 2) GR00366-A-6 9.64 PRPF31
17 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.64 RPGR
18 Increased shRNA abundance (Z-score > 2) GR00366-A-8 9.64 PRPF8
19 Increased shRNA abundance (Z-score > 2) GR00366-A-83 9.64 PRPF31
20 Decreased influenza A virus infection GR00147-A-1 9.56 PRPF31 PRPF8
21 Decreased influenza A virus infection GR00147-A-2 9.56 PRPF31 PRPF8

MGI Mouse Phenotypes related to Retinitis Pigmentosa 13:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 9.26 PRPF3 PRPF31 PRPF8 RPGR
2 vision/eye MP:0005391 9.1 AGAP1 IMPDH1 PRPF3 PRPF31 PRPF8 RPGR

Drugs & Therapeutics for Retinitis Pigmentosa 13

Drugs for Retinitis Pigmentosa 13 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Metformin Approved Phase 4,Phase 3 657-24-9 14219 4091
2 Biguanides Phase 4,Phase 3
3 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3
4 Sitagliptin Phosphate Phase 4
5 Hypoglycemic Agents Phase 4,Phase 3
6 insulin Phase 4,Phase 3
7 HIV Protease Inhibitors Phase 4,Phase 3
8 Dipeptidyl-Peptidase IV Inhibitors Phase 4,Phase 3
9 Insulin, Globin Zinc Phase 4,Phase 3
10
protease inhibitors Phase 4,Phase 3
11 Incretins Phase 4,Phase 3
12 Hormone Antagonists Phase 4,Phase 3
13 Hormones Phase 4,Phase 3
14
Saxagliptin Approved Phase 3 361442-04-8 11243969

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Sitagliptin + Metformin Compared to Metformin Monotherapy and Placebo in Women With a Recent GDM Completed NCT01856907 Phase 4 Sitagliptin-Metformin;Metformin;Placebo pill
2 Saxagliptin + Metformin Compared to Saxagliptin or Metformin Monotherapy in PCOS Women With Impaired Glucose Homeostasis Completed NCT02022007 Phase 3 Metformin XR;Saxagliptin;Saxagliptin-Metformin XR

Search NIH Clinical Center for Retinitis Pigmentosa 13

Genetic Tests for Retinitis Pigmentosa 13

Genetic tests related to Retinitis Pigmentosa 13:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 13 30 PRPF8

Anatomical Context for Retinitis Pigmentosa 13

MalaCards organs/tissues related to Retinitis Pigmentosa 13:

42
Bone, Eye, Retina, Prostate

Publications for Retinitis Pigmentosa 13

Articles related to Retinitis Pigmentosa 13:

(show all 12)
# Title Authors Year
1
Specific expression of lncRNA RP13-650J16.1 and TCONS_00023979 in prostate cancer. ( 30279207 )
2018
2
In vitro determination of the short-chain synthetic peptide RP13 antimicrobial activity. ( 25729870 )
2014
3
Autosomal dominant retinitis pigmentosa with intrafamilial variability and incomplete penetrance in two families carrying mutations in PRPF8. ( 22039234 )
2011
4
Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes. ( 20232351 )
2010
5
Histologic study of retinitis pigmentosa due to a mutation in the RP13 gene (PRPC8): comparison with rhodopsin Pro23His, Cys110Arg, and Glu181Lys. ( 15126168 )
2004
6
Clinical characterization, linkage analysis, and PRPC8 mutation analysis of a family with autosomal dominant retinitis pigmentosa type 13 (RP13). ( 11910553 )
2002
7
Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13). ( 11468273 )
2001
8
RP11 and RP13: unexpected gene loci. ( 11689314 )
2001
9
Expression map of human chromosome region 17p13.3, spanning the RP13 dominant retinitis pigmentosa locus, the Miller-Dieker lissencephaly syndrome (MDLS) region, and a putative tumour suppressor locus. ( 10828595 )
2000
10
Map refinement of locus RP13 to human chromosome 17p13.3 in a second family with autosomal dominant retinitis pigmentosa. ( 8571961 )
1996
11
A new family linked to the RP13 locus for autosomal dominant retinitis pigmentosa on distal 17p. ( 8782056 )
1996
12
The gene for PEDF, a retinal growth factor is a prime candidate for retinitis pigmentosa and is tightly linked to the RP13 locus on chromosome 17p13.3. ( 9233986 )
1996

Variations for Retinitis Pigmentosa 13

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 13:

76
# Symbol AA change Variation ID SNP ID
1 PRPF8 p.Pro2301Thr VAR_022626 rs121434239
2 PRPF8 p.Phe2304Leu VAR_022627 rs121434240
3 PRPF8 p.His2309Pro VAR_022628 rs121434236
4 PRPF8 p.His2309Arg VAR_022629 rs121434236
5 PRPF8 p.Arg2310Gly VAR_022630
6 PRPF8 p.Arg2310Lys VAR_022631 rs121434238
7 PRPF8 p.Phe2314Leu VAR_022632
8 PRPF8 p.Tyr2334Asn VAR_022633

ClinVar genetic disease variations for Retinitis Pigmentosa 13:

6 (show all 15)
# Gene Variation Type Significance SNP ID Assembly Location
1 PRPF8 NM_006445.3(PRPF8): c.6926A> G (p.His2309Arg) single nucleotide variant Pathogenic rs121434236 GRCh37 Chromosome 17, 1554178: 1554178
2 PRPF8 NM_006445.3(PRPF8): c.6926A> G (p.His2309Arg) single nucleotide variant Pathogenic rs121434236 GRCh38 Chromosome 17, 1650884: 1650884
3 PRPF8 NM_006445.3(PRPF8): c.6926A> C (p.His2309Pro) single nucleotide variant Pathogenic rs121434236 GRCh37 Chromosome 17, 1554178: 1554178
4 PRPF8 NM_006445.3(PRPF8): c.6926A> C (p.His2309Pro) single nucleotide variant Pathogenic rs121434236 GRCh38 Chromosome 17, 1650884: 1650884
5 PRPF8 NM_006445.3(PRPF8): c.6929G> A (p.Arg2310Lys) single nucleotide variant Pathogenic rs121434238 GRCh37 Chromosome 17, 1554175: 1554175
6 PRPF8 NM_006445.3(PRPF8): c.6929G> A (p.Arg2310Lys) single nucleotide variant Pathogenic rs121434238 GRCh38 Chromosome 17, 1650881: 1650881
7 PRPF8 NM_006445.3(PRPF8): c.6901C> A (p.Pro2301Thr) single nucleotide variant Pathogenic rs121434239 GRCh37 Chromosome 17, 1554203: 1554203
8 PRPF8 NM_006445.3(PRPF8): c.6901C> A (p.Pro2301Thr) single nucleotide variant Pathogenic rs121434239 GRCh38 Chromosome 17, 1650909: 1650909
9 PRPF8 NM_006445.3(PRPF8): c.6912C> G (p.Phe2304Leu) single nucleotide variant Pathogenic rs121434240 GRCh37 Chromosome 17, 1554192: 1554192
10 PRPF8 NM_006445.3(PRPF8): c.6912C> G (p.Phe2304Leu) single nucleotide variant Pathogenic rs121434240 GRCh38 Chromosome 17, 1650898: 1650898
11 PRPF8 NM_006445.3(PRPF8): c.6353C> T (p.Ser2118Phe) single nucleotide variant Pathogenic rs387906971 GRCh37 Chromosome 17, 1556852: 1556852
12 PRPF8 NM_006445.3(PRPF8): c.6353C> T (p.Ser2118Phe) single nucleotide variant Pathogenic rs387906971 GRCh38 Chromosome 17, 1653558: 1653558
13 PRPF8 PRPF8, ARG2310SER single nucleotide variant Pathogenic
14 PRPF8 NM_006445.4(PRPF8): c.5804G> A (p.Arg1935His) single nucleotide variant Likely pathogenic rs1555550617 GRCh37 Chromosome 17, 1558827: 1558827
15 PRPF8 NM_006445.4(PRPF8): c.5804G> A (p.Arg1935His) single nucleotide variant Likely pathogenic rs1555550617 GRCh38 Chromosome 17, 1655533: 1655533

Expression for Retinitis Pigmentosa 13

Search GEO for disease gene expression data for Retinitis Pigmentosa 13.

Pathways for Retinitis Pigmentosa 13

Pathways related to Retinitis Pigmentosa 13 according to GeneCards Suite gene sharing:

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

GO Terms for Retinitis Pigmentosa 13

Cellular components related to Retinitis Pigmentosa 13 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.91 AGAP1 CHMP4B IMPDH1 PRPF3 PRPF31 PRPF8
2 nuclear speck GO:0016607 9.43 PRPF3 PRPF31 PRPF8
3 spliceosomal complex GO:0005681 9.33 PRPF3 PRPF31 PRPF8
4 Cajal body GO:0015030 9.32 PRPF3 PRPF31
5 U4/U6 x U5 tri-snRNP complex GO:0046540 9.13 PRPF3 PRPF31 PRPF8
6 U2-type precatalytic spliceosome GO:0071005 8.8 PRPF3 PRPF31 PRPF8

Biological processes related to Retinitis Pigmentosa 13 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mRNA processing GO:0006397 9.5 PRPF3 PRPF31 PRPF8
2 mRNA splicing, via spliceosome GO:0000398 9.43 PRPF3 PRPF31 PRPF8
3 RNA splicing GO:0008380 9.26 PRPF3 PRPF31 PRPF8 RP9
4 RNA splicing, via transesterification reactions GO:0000375 9.16 PRPF3 PRPF8
5 spliceosomal tri-snRNP complex assembly GO:0000244 8.8 PRPF3 PRPF31 PRPF8

Molecular functions related to Retinitis Pigmentosa 13 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA binding GO:0003723 9.1 IMPDH1 PRPF3 PRPF31 PRPF8 RP9 RPGR

Sources for Retinitis Pigmentosa 13

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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