MCID: RTN043
MIFTS: 39

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 57 12 53 75 29 13 6 15 73
Rp13 57 12 75
Retinitis Pigmentosa, Type 13 40
Rp 13 53

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
retinitis pigmentosa 13:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:



External Ids:

OMIM 57 600059
Disease Ontology 12 DOID:0110403
ICD10 33 H35.5
MedGen 42 C1838702
MeSH 44 D012174
UMLS 73 C1838702

Summaries for Retinitis Pigmentosa 13

UniProtKB/Swiss-Prot : 75 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. 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 insulin have been mentioned in the context of this disorder. Affiliated tissues include retina, bone and eye, and related phenotypes are rod-cone dystrophy and retinal degeneration

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 28.7 IMPDH1 PRPF3 RP9 RPGR
2 retinitis pigmentosa 25.9 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 9.6 PRPF31 RP9
9 retinal disease 9.4 PRPF31 PRPF8 RPGR
10 retinitis pigmentosa 18 7.7 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:

57
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:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 32 HP:0000510
2 retinal degeneration 32 HP:0000546
3 nyctalopia 32 HP:0000662
4 constriction of peripheral visual field 32 HP:0001133
5 hypopigmentation of the fundus 32 HP:0007894
6 cystoid macular edema 32 occasional (7.5%) HP:0011505

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

26 (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:

46
# 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 PRPF3 PRPF31 PRPF8 RPGR AGAP1 IMPDH1

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 14219 4091
2 insulin Phase 4,Phase 3
3
protease inhibitors Phase 4,Phase 3
4 Sitagliptin Phosphate Phase 4
5 HIV Protease Inhibitors Phase 4,Phase 3
6 Hormone Antagonists Phase 4,Phase 3
7 Dipeptidyl-Peptidase IV Inhibitors Phase 4,Phase 3
8 Hormones Phase 4,Phase 3
9 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3
10 Hypoglycemic Agents Phase 4,Phase 3
11 Incretins Phase 4,Phase 3
12 Insulin, Globin Zinc Phase 4,Phase 3
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 29 PRPF8

Anatomical Context for Retinitis Pigmentosa 13

MalaCards organs/tissues related to Retinitis Pigmentosa 13:

41
Retina, Bone, Eye

Publications for Retinitis Pigmentosa 13

Articles related to Retinitis Pigmentosa 13:

# Title Authors Year
1
Clinical characterization, linkage analysis, and PRPC8 mutation analysis of a family with autosomal dominant retinitis pigmentosa type 13 (RP13). ( 11910553 )
2002

Variations for Retinitis Pigmentosa 13

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

75
# 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 13)
# 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

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 nucleus GO:0005634 9.91 AGAP1 IMPDH1 PRPF3 PRPF31 PRPF4 PRPF8
2 nuclear speck GO:0016607 9.62 PRPF3 PRPF31 PRPF4 PRPF8
3 spliceosomal complex GO:0005681 9.46 PRPF3 PRPF31 PRPF4 PRPF8
4 Cajal body GO:0015030 9.43 PRPF3 PRPF31 PRPF4
5 U4/U6 x U5 tri-snRNP complex GO:0046540 9.26 PRPF3 PRPF31 PRPF4 PRPF8
6 U2-type precatalytic spliceosome GO:0071005 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
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
Content
Loading form....