MCID: RTN043
MIFTS: 41

Retinitis Pigmentosa 13

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Retinitis Pigmentosa 13

MalaCards integrated aliases for Retinitis Pigmentosa 13:

Name: Retinitis Pigmentosa 13 53 12 49 71 28 13 14 69
Rp13 53 12 71
Rp 13 49

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

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


HPO:

31
retinitis pigmentosa 13:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:



External Ids:

OMIM 53 600059
Disease Ontology 12 DOID:0110403
ICD10 32 H35.5
MedGen 39 C1838702
MeSH 41 D012174
UMLS 69 C1838702

Summaries for Retinitis Pigmentosa 13

UniProtKB/Swiss-Prot : 71 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, and has symptoms including nyctalopia, hypopigmentation of the fundus and rod-cone dystrophy. 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 Dipeptidyl-Peptidase IV Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include bone, eye and retina, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

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 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 29.3 IMPDH1 PRPF3 RP9 RPGR
2 retinitis pigmentosa 27.6 IMPDH1 PRPF3 PRPF31 PRPF4 PRPF8 RP9
3 leber congenital amaurosis 4 10.2
4 retinitis pigmentosa 10 9.9 IMPDH1 RP9
5 miller-dieker lissencephaly syndrome 9.9
6 lissencephaly 9.9
7 retinitis pigmentosa 9 9.8 IMPDH1 RP9
8 retinitis pigmentosa 11 9.7 PRPF31 RP9
9 retinal disease 9.7 PRPF31 PRPF8 RPGR
10 retinitis pigmentosa 18 8.5 IMPDH1 PRPF3 PRPF31 PRPF4 PRPF8 RP9

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



Diseases related to Retinitis Pigmentosa 13

Symptoms & Phenotypes for Retinitis Pigmentosa 13

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
night blindness
retinal degeneration
diffuse bone spicule-like pigment clumping within the neurosensory retina
attenuated retinal vessels
pale optic nerve head
more

Clinical features from OMIM:

600059

Human phenotypes related to Retinitis Pigmentosa 13:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 nyctalopia 31 HP:0000662
2 hypopigmentation of the fundus 31 HP:0007894
3 rod-cone dystrophy 31 HP:0000510
4 retinal degeneration 31 HP:0000546
5 cystoid macular edema 31 occasional (7.5%) HP:0011505
6 constriction of peripheral visual field 31 HP:0001133

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

25 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-10 9.44 PRPF8
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-109 9.44 PRPF8
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.44 PRPF31 PRPF8 RPGR
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.44 RPGR
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 9.44 PRPF8
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 9.44 PRPF31
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 9.44 PRPF31
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-62 9.44 PRPF8
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 9.44 PRPF8
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.44 PRPF8
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-98 9.44 RPGR
12 Decreased influenza A virus infection GR00147-A-1 9.26 PRPF31 PRPF8
13 Decreased influenza A virus infection GR00147-A-2 9.26 PRPF31 PRPF8

MGI Mouse Phenotypes related to Retinitis Pigmentosa 13:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 9.26 PRPF3 PRPF31 PRPF8 RPGR
2 vision/eye MP:0005391 9.02 AGAP1 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 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Metformin Approved Phase 4,Phase 3 657-24-9 4091 14219
2 Dipeptidyl-Peptidase IV Inhibitors Phase 4,Phase 3
3 HIV Protease Inhibitors Phase 4,Phase 3
4 Hormone Antagonists Phase 4,Phase 3
5 Hormones Phase 4,Phase 3
6 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3
7 Hypoglycemic Agents Phase 4,Phase 3
8 Incretins Phase 4,Phase 3
9 insulin Phase 4,Phase 3
10 Insulin, Globin Zinc Phase 4,Phase 3
11
protease inhibitors Phase 4,Phase 3
12 Sitagliptin Phosphate Phase 4
13
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 28 PRPF8

Anatomical Context for Retinitis Pigmentosa 13

MalaCards organs/tissues related to Retinitis Pigmentosa 13:

38
Bone, Eye, Retina

Publications for Retinitis Pigmentosa 13

Articles related to Retinitis Pigmentosa 13:

# Title Authors Year
1
Histologic study of retinitis pigmentosa due to a mutation in the RP13 gene (PRPC8): comparison with rhodopsin Pro23His, Cys110Arg, and Glu181Lys. ( 15126168 )
2004
2
Clinical characterization, linkage analysis, and PRPC8 mutation analysis of a family with autosomal dominant retinitis pigmentosa type 13 (RP13). ( 11910553 )
2002
3
Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13). ( 11468273 )
2001
4
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
5
Map refinement of locus RP13 to human chromosome 17p13.3 in a second family with autosomal dominant retinitis pigmentosa. ( 8571961 )
1996
6
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:

71
# 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
# Gene Variation Type Significance SNP ID Assembly Location
1 PRPF8 NM_006445.3(PRPF8): c.6353C> T (p.Ser2118Phe) single nucleotide variant Pathogenic rs387906971 GRCh37 Chromosome 17, 1556852: 1556852
2 PRPF8 PRPF8, ARG2310SER single nucleotide variant Pathogenic
3 PRPF8 NM_006445.3(PRPF8): c.6926A> G (p.His2309Arg) 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 GRCh37 Chromosome 17, 1554178: 1554178
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.6901C> A (p.Pro2301Thr) single nucleotide variant Pathogenic rs121434239 GRCh37 Chromosome 17, 1554203: 1554203
7 PRPF8 NM_006445.3(PRPF8): c.6912C> G (p.Phe2304Leu) single nucleotide variant Pathogenic rs121434240 GRCh37 Chromosome 17, 1554192: 1554192

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
11.98 PRPF3 PRPF31 PRPF4 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 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 13 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 RNA splicing GO:0008380 9.35 PRPF3 PRPF31 PRPF4 PRPF8 RP9
4 RNA splicing, via transesterification reactions GO:0000375 9.33 PRPF3 PRPF4 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 U6 snRNA binding GO:0017070 9.16 PRPF4 PRPF8
2 RNA binding GO:0003723 9.1 IMPDH1 PRPF3 PRPF31 PRPF8 RP9 RPGR
3 U4 snRNA binding GO:0030621 8.96 PRPF31 PRPF4

Sources for Retinitis Pigmentosa 13

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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