RP11
MCID: RTN041
MIFTS: 37

Retinitis Pigmentosa 11 (RP11)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 11

MalaCards integrated aliases for Retinitis Pigmentosa 11:

Name: Retinitis Pigmentosa 11 58 12 54 76 30 13 6 15 74
Rp11 58 12 76 15
Retinitis Pigmentosa, Type 11 41
Rp 11 54

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
incomplete penetrance


HPO:

33
retinitis pigmentosa 11:
Onset and clinical course incomplete penetrance
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110408
OMIM 58 600138
MeSH 45 D012174
ICD10 34 H35.5
MedGen 43 C1838601
UMLS 74 C1838601

Summaries for Retinitis Pigmentosa 11

UniProtKB/Swiss-Prot : 76 Retinitis pigmentosa 11: 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 11, also known as rp11, is related to retinitis pigmentosa 13 and retinitis pigmentosa. An important gene associated with Retinitis Pigmentosa 11 is PRPF31 (Pre-MRNA Processing Factor 31). The drugs Estradiol and Ethinyl Estradiol have been mentioned in the context of this disorder. Affiliated tissues include eye, ovary and endothelial, and related phenotypes are macular edema and macular atrophy

Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation in the PRPF31 gene on chromosome 19q13.

OMIM : 58 Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous group of retinal dystrophies characterized by a progressive degeneration of photoreceptors, eventually resulting in severe visual impairment. For a discussion of genetic heterogeneity of RP, see 268000. (600138)

Related Diseases for Retinitis Pigmentosa 11

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

# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 13 30.3 PRPF31 RP9
2 retinitis pigmentosa 10.6
3 leber congenital amaurosis 4 10.6
4 retinitis 10.6
5 dyskinesia of esophagus 10.2 RP9 UBTF
6 retinitis pigmentosa 18 10.0 PRPF31 RP9
7 small cell cancer of the lung 10.0
8 lung cancer 10.0

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 11:



Diseases related to Retinitis Pigmentosa 11

Symptoms & Phenotypes for Retinitis Pigmentosa 11

Human phenotypes related to Retinitis Pigmentosa 11:

33
# Description HPO Frequency HPO Source Accession
1 macular edema 33 occasional (7.5%) HP:0040049
2 macular atrophy 33 occasional (7.5%) HP:0007401
3 blindness 33 HP:0000618
4 nyctalopia 33 HP:0000662
5 rod-cone dystrophy 33 HP:0000510

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
retinitis pigmentosa
macular edema (in some patients)
macular atrophy (in some patients)
night blindness (onset in teens)
blindness (onset in 30s)
more

Clinical features from OMIM:

600138

Drugs & Therapeutics for Retinitis Pigmentosa 11

Drugs for Retinitis Pigmentosa 11 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 29)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
2
Ethinyl Estradiol Approved Phase 4 57-63-6 5991
3
Polyestradiol phosphate Approved Phase 4 28014-46-2
4
Drospirenone Approved Phase 4 67392-87-4 68873
5
leucovorin Approved Phase 4 58-05-9 6006 143
6
Calcium Approved, Nutraceutical Phase 4 7440-70-2 271
7
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
8 Hematinics Phase 4
9 Mineralocorticoids Phase 4
10 Contraceptive Agents Phase 4
11 Hormones Phase 4
12 Natriuretic Agents Phase 4
13 Nutrients Phase 4
14 Vitamin B Complex Phase 4
15 Contraceptives, Oral Phase 4
16 Mineralocorticoid Receptor Antagonists Phase 4
17 Trace Elements Phase 4
18 Vitamins Phase 4
19 Hormone Antagonists Phase 4
20 Estradiol 17 beta-cypionate Phase 4
21 Micronutrients Phase 4
22 Estradiol 3-benzoate Phase 4
23 Vitamin B9 Phase 4
24 Calcium, Dietary Phase 4
25 Folate Phase 4
26 diuretics Phase 4
27 Diuretics, Potassium Sparing Phase 4
28 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
29 Pharmaceutical Solutions Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Low Dose OC Therapy in Women With Polycystic Ovary Syndrome (PCOS): Impact of BMI on Hyperandrogenism Completed NCT01360996 Phase 4 3 mg DRSP/20 μg EE
2 Mepolizumab in Chronic Obstructive Pulmonary Diseases (COPD) With Eosinophilic Bronchitis Completed NCT01463644 Phase 3 Mepolizumab;placebo

Search NIH Clinical Center for Retinitis Pigmentosa 11

Genetic Tests for Retinitis Pigmentosa 11

Genetic tests related to Retinitis Pigmentosa 11:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 11 30 PRPF31

Anatomical Context for Retinitis Pigmentosa 11

MalaCards organs/tissues related to Retinitis Pigmentosa 11:

42
Eye, Ovary, Endothelial, Thyroid

Publications for Retinitis Pigmentosa 11

Articles related to Retinitis Pigmentosa 11:

(show all 31)
# Title Authors Year
1
Long non-coding RNA RP11-552M11.4 favors tumorigenesis and development of cervical cancer via modulating miR-3941/ATF1 signaling. ( 30790638 )
2019
2
Depletion of the lncRNA RP11-567G11.1 inhibits pancreatic cancer progression. ( 30802827 )
2019
3
Integrated analysis of pseudogene RP11-564D11.3 expression and its potential roles in hepatocellular carcinoma. ( 30362374 )
2018
4
Dependence of artesunate on long noncoding RNA-RP11 to inhibit epithelial-mesenchymal transition of hepatocellular carcinoma. ( 30335897 )
2018
5
LncRNA RP11-79H23.3 Functions as a Competing Endogenous RNA to Regulate PTEN Expression through Sponging hsa-miR-107 in the Development of Bladder Cancer. ( 30149689 )
2018
6
Overexpression of long non-coding RNA RP11-396F22.1 correlates poor prognosis of patients with early-stage cervical cancer. ( 29636859 )
2018
7
Downregulation of AC061961.2, LING01-AS1, and RP11-13E1.5 is associated with dilated cardiomyopathy progression. ( 30203513 )
2018
8
Increased Expression of Lncrna RP11-397A15.4 in Gastric Cancer and Its Clinical Significance. ( 30610039 )
2018
9
Global expression profiling of metabolic pathway-related lncRNAs in human gastric cancer and the identification of RP11-555H23.1 as a new diagnostic biomarker. ( 30320481 )
2018
10
Long Non-Coding RNA RP11-789C1.1 Suppresses Epithelial to Mesenchymal Transition in Gastric Cancer Through the RP11-789C1.1/MiR-5003/E-Cadherin Axis. ( 29991048 )
2018
11
A Novel LncRNA-miRNA-mRNA Triple Network Identifies LncRNA RP11-363E7.4 as An Important Regulator of miRNA and Gene Expression in Gastric Cancer. ( 29843141 )
2018
12
Long non-coding RNAs RP5-821D11.7, APCDD1L-AS1 and RP11-277P12.9 were associated with the prognosis of lung squamous cell carcinoma. ( 29568882 )
2018
13
Cisplatin suppresses tumor proliferation by inhibiting autophagy in ovarian cancer via long non-coding RNA RP11-135L22.1. ( 29509240 )
2018
14
Long non-coding RNA RP11-552M11.4 promotes cells proliferation, migration and invasion by targeting BRCA2 in ovarian cancer. ( 29478268 )
2018
15
A novel lncRNA-miRNA-mRNA network analysis identified the hub lncRNA RP11-159F24.1 in the pathogenesis of papillary thyroid cancer. ( 30474931 )
2018
16
Bioinformatics-based analysis of the involvement of AC005550.3, RP11-415D17.3, and RP1-140K8.5 in homocysteine-induced vascular endothelial injury. ( 30093949 )
2018
17
LncRNA RP11-670E13.6 Regulates Cell Cycle Progression in UVB Damaged Human Dermal Fibroblasts. ( 29143326 )
2018
18
A novel SNP in promoter region of RP11-3N2.1 is associated with reduced risk of colorectal cancer. ( 29167551 )
2018
19
LncRNA-RP11-714G18.1 suppresses vascular cell migration via directly targeting LRP2BP. ( 29363163 )
2018
20
Rg1 inhibits high glucose-induced mesenchymal activation and fibrosis via regulating miR-2113/RP11-982M15.8/Zeb1 pathway. ( 29654764 )
2018
21
A distinctively expressed long noncoding RNA, RP11-466I1.1, may serve as a prognostic biomarker in hepatocellular carcinoma. ( 29790663 )
2018
22
Variant of SNP rs1317082 at CCSlnc362 (RP11-362K14.5) creates a binding site for miR-4658 and diminishes the susceptibility to CRC. ( 30518759 )
2018
23
LncRNA RP11-436H11.5, functioning as a competitive endogenous RNA, upregulates BCL-W expression by sponging miR-335-5p and promotes proliferation and invasion in renal cell carcinoma. ( 29070041 )
2017
24
Down-regulation of long non-coding RNA RP11-708H21.4 is associated with poor prognosis for colorectal cancer and promotes tumorigenesis through regulating AKT/mTOR pathway. ( 28427191 )
2017
25
Down-regulation of long noncoding RNA RP11-713B9.1 contributes to the cell viability in non‑small cell lung cancer (NSCLC). ( 28765887 )
2017
26
Genome-wide association study suggests common variants within RP11-634B7.4 gene influencing severe pre-treatment pain in head and neck cancer patients. ( 27670397 )
2016
27
Novel long non-coding RNA RP11-119F7.4 as a potential biomarker for the development and progression of gastric cancer. ( 26170986 )
2015
28
Clinical significance of high expression of circulating serum lncRNA RP11-445H22.4 in breast cancer patients: a Chinese population-based study. ( 25929808 )
2015
29
Variation in retinitis pigmentosa-11 (PRPF31 or RP11) gene expression between symptomatic and asymptomatic patients with dominant RP11 mutations. ( 16708387 )
2006
30
RP11 and RP13: unexpected gene loci. ( 11689314 )
2001
31
RP11 is the second most common locus for dominant retinitis pigmentosa. ( 9556378 )
1998

Variations for Retinitis Pigmentosa 11

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 11:

76
# Symbol AA change Variation ID SNP ID
1 PRPF31 p.Ala194Glu VAR_025630 rs119475043
2 PRPF31 p.Ala216Pro VAR_025631 rs119475042

ClinVar genetic disease variations for Retinitis Pigmentosa 11:

6 (show all 25)
# Gene Variation Type Significance SNP ID Assembly Location
1 PRPF31 NM_015629.3(PRPF31): c.527+9G> T single nucleotide variant Conflicting interpretations of pathogenicity rs376994481 GRCh37 Chromosome 19, 54626948: 54626948
2 PRPF31 NM_015629.3(PRPF31): c.527+9G> T single nucleotide variant Conflicting interpretations of pathogenicity rs376994481 GRCh38 Chromosome 19, 54123569: 54123569
3 PRPF31 NM_015629.3(PRPF31): c.1115_1125delGGAAGCAGGCC (p.Arg372Glnfs) deletion Pathogenic rs587776589 GRCh38 Chromosome 19, 54128346: 54128356
4 PRPF31 NM_015629.3(PRPF31): c.1115_1125delGGAAGCAGGCC (p.Arg372Glnfs) deletion Pathogenic rs587776589 GRCh37 Chromosome 19, 54631721: 54631731
5 PRPF31 NM_015629.3(PRPF31): c.646G> C (p.Ala216Pro) single nucleotide variant Pathogenic rs119475042 GRCh37 Chromosome 19, 54627246: 54627246
6 PRPF31 NM_015629.3(PRPF31): c.646G> C (p.Ala216Pro) single nucleotide variant Pathogenic rs119475042 GRCh38 Chromosome 19, 54123867: 54123867
7 PRPF31 NM_015629.3(PRPF31): c.527+3A> G single nucleotide variant Pathogenic rs587776590 GRCh38 Chromosome 19, 54123563: 54123563
8 PRPF31 NM_015629.3(PRPF31): c.527+3A> G single nucleotide variant Pathogenic rs587776590 GRCh37 Chromosome 19, 54626942: 54626942
9 PRPF31 PRPF31, IVS6AS, 42-BP DEL, -3 deletion Pathogenic
10 PRPF31 NM_015629.3(PRPF31): c.581C> A (p.Ala194Glu) single nucleotide variant Pathogenic rs119475043 GRCh37 Chromosome 19, 54627181: 54627181
11 PRPF31 NM_015629.3(PRPF31): c.581C> A (p.Ala194Glu) single nucleotide variant Pathogenic rs119475043 GRCh38 Chromosome 19, 54123802: 54123802
12 PRPF31 PRPF31, 33-BP INS, NT580 insertion Pathogenic
13 PRPF31 PRPF31, 1-BP INS, 769A insertion Pathogenic
14 PRPF31 PRPF31, 12-BP DEL deletion Pathogenic
15 PRPF31 NM_015629.3(PRPF31): c.1374+654C> G single nucleotide variant Pathogenic rs587776591 GRCh38 Chromosome 19, 54130024: 54130024
16 PRPF31 NM_015629.3(PRPF31): c.1374+654C> G single nucleotide variant Pathogenic rs587776591 GRCh37 Chromosome 19, 54633399: 54633399
17 PRPF31 NM_015629.4(PRPF31): c.904del (p.Ala302Glnfs) deletion Likely pathogenic rs1555793828 GRCh38 Chromosome 19, 54126576: 54126576
18 PRPF31 NM_015629.4(PRPF31): c.904del (p.Ala302Glnfs) deletion Likely pathogenic rs1555793828 GRCh37 Chromosome 19, 54629950: 54629950
19 PRPF31 NM_015629.3(PRPF31): c.1007C> G (p.Pro336Arg) single nucleotide variant Uncertain significance rs1555794210 GRCh37 Chromosome 19, 54631509: 54631509
20 PRPF31 NM_015629.3(PRPF31): c.1007C> G (p.Pro336Arg) single nucleotide variant Uncertain significance rs1555794210 GRCh38 Chromosome 19, 54128134: 54128134
21 PRPF31 NM_015629.3(PRPF31): c.910C> T (p.Arg304Cys) single nucleotide variant Uncertain significance GRCh38 Chromosome 19, 54126582: 54126582
22 PRPF31 NM_015629.3(PRPF31): c.910C> T (p.Arg304Cys) single nucleotide variant Uncertain significance GRCh37 Chromosome 19, 54629957: 54629957
23 PRPF31 NM_015629.3(PRPF31): c.1291C> T (p.Gln431Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 19, 54129287: 54129287
24 PRPF31 NM_015629.3(PRPF31): c.1291C> T (p.Gln431Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 19, 54632662: 54632662
25 PRPF31 GRCh37/hg19 19q13.42(chr19: 54618744-54622073)x1 copy number loss Pathogenic GRCh37 Chromosome 19, 54618744: 54622073

Expression for Retinitis Pigmentosa 11

Search GEO for disease gene expression data for Retinitis Pigmentosa 11.

Pathways for Retinitis Pigmentosa 11

GO Terms for Retinitis Pigmentosa 11

Sources for Retinitis Pigmentosa 11

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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