RP11
MCID: RTN041
MIFTS: 42

Retinitis Pigmentosa 11 (RP11)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 11

MalaCards integrated aliases for Retinitis Pigmentosa 11:

Name: Retinitis Pigmentosa 11 56 12 52 73 29 13 6 15 71
Rp11 56 12 73 15
Retinitis Pigmentosa, Type 11 39
Rp 11 52

Characteristics:

OMIM:

56
Miscellaneous:
incomplete penetrance

Inheritance:
autosomal dominant


HPO:

31
retinitis pigmentosa 11:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110408
OMIM 56 600138
OMIM Phenotypic Series 56 PS268000
MeSH 43 D012174
ICD10 32 H35.5
MedGen 41 C1838601
UMLS 71 C1838601

Summaries for Retinitis Pigmentosa 11

UniProtKB/Swiss-Prot : 73 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). Affiliated tissues include breast, lung and retina, and related phenotypes are macular atrophy and nyctalopia

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

OMIM : 56 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
Retinitis Pigmentosa 86 Retinitis Pigmentosa 88
Nonsyndromic Retinitis Pigmentosa

Diseases related to Retinitis Pigmentosa 11 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 116)
# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 13 31.3 RP9 PRPF31 LUC7L2
2 retinitis pigmentosa 31.1 YARS1 XIST TMSB15A TMPRSS2 SLC27A5 SDHC
3 fibrillary astrocytoma 10.7 LUC7L2 KDM4C H2AC18
4 fetal alcohol spectrum disorder 10.7 SLC27A5 KDM4C H2AC18
5 fetal alcohol syndrome 10.7 SLC27A5 KDM4C H2AC18
6 central nervous system benign neoplasm 10.7 LUC7L2 KDM4C H2AC18
7 chronic leukemia 10.7 LUC7L2 KDM4C H2AC18
8 colonic benign neoplasm 10.7 KDM4C HRAS H2AC18
9 hereditary lymphedema i 10.7 KDM4C H2AC18 GAPDH
10 hyperoxaluria, primary, type i 10.7 PRODH KDM4C H2AC18
11 melanoma in congenital melanocytic nevus 10.7 KDM4C HRAS H2AC18
12 thyroid cancer, nonmedullary, 1 10.7 MIR146A HOTAIR CCND2-AS1
13 germ cell and embryonal cancer 10.7 PRODH KDM4C H2AC18
14 endocrine organ benign neoplasm 10.7 SDHC MIR335 KDM4C H2AC18
15 retinitis pigmentosa 24 10.7 XIST SLC27A5 H2AC18 GAPDH
16 hypotrichosis 1 10.7 KDM4C H2AC18 GAPDH
17 prostate small cell carcinoma 10.7 TMPRSS2 KDM4C
18 retinitis pigmentosa 23 10.7 SLC27A5 SDHC H2AC18 GAPDH
19 neuroretinitis 10.7
20 retinitis 10.7
21 amino acid metabolic disorder 10.7 PRODH KDM4C H2AC18
22 x-linked recessive disease 10.7 SLC27A5 PRODH H2AC18 GAPDH
23 connective tissue cancer 10.7 TMSB15A MIR335 KDM4C H2AC18
24 bone marrow cancer 10.7 LUC7L2 KDM4C HRAS H2AC18
25 cardiovascular organ benign neoplasm 10.6 KDM4C HRAS H2AC18
26 carbohydrate metabolic disorder 10.6 PRODH KDM4C H2AC18
27 pelizaeus-merzbacher disease 10.6 SDHC PRODH H2AC18 GAPDH
28 blood coagulation disease 10.6 PRODH LUC7L2 H2AC18
29 overnutrition 10.6 PRODH MIR146A KDM4C H2AC18
30 sleeping sickness 10.6 PRODH H2AC18 GAPDH
31 specific developmental disorder 10.6 PRODH KDM4C H2AC18 GAPDH
32 lymphangioma 10.6 KDM4C HRAS H2AC18
33 reproductive system disease 10.6 PRODH MIR335 MIR146A KDM4C H2AC18
34 central nervous system cancer 10.6 TMSB15A MIR296 KDM4C H2AC18 CCND2-AS1
35 ovary epithelial cancer 10.6 KDM4C HRAS H2AC18 GAPDH
36 glucose metabolism disease 10.6 PRODH MIR335 MIR146A H2AC18
37 malignant ovarian surface epithelial-stromal neoplasm 10.6 KDM4C HRAS H2AC18 GAPDH
38 lymphatic system cancer 10.6 PRODH MIR146A KDM4C H2AC18
39 peptic ulcer disease 10.6 PRODH HRAS H2AC18
40 hair disease 10.6 KDM4C H2AC18 GAPDH
41 bone cancer 10.6 TMSB15A MIR335 KDM4C H2AC18 GAPDH
42 acquired metabolic disease 10.6 PRODH MIR335 MIR146A H2AC18
43 immune system disease 10.6 PRODH MIR335 MIR146A KDM4C H2AC18
44 lymphatic system disease 10.6 PRODH MIR296 MIR146A KDM4C H2AC18
45 urinary system disease 10.6 PRODH MIR146A KDM4C H2AC18
46 central nervous system disease 10.6 PRODH MIR335 MIR146A KDM4C H2AC18
47 nervous system disease 10.6 PRODH MIR335 MIR146A KDM4C H2AC18
48 respiratory system cancer 10.6 MIR335 MIR296 MIR146A KDM4C H2AC18
49 blood platelet disease 10.6 PRODH LUC7L2 H2AC18
50 placenta disease 10.6 PRODH MIR146A H2AC18

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:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 macular atrophy 31 occasional (7.5%) HP:0007401
2 nyctalopia 31 very rare (1%) HP:0000662
3 optic disc pallor 31 very rare (1%) HP:0000543
4 macular edema 31 very rare (1%) HP:0040049
5 perifoveal ring of hyperautofluorescence 31 very rare (1%) HP:0030629
6 blindness 31 HP:0000618
7 reduced visual acuity 31 HP:0007663
8 rod-cone dystrophy 31 HP:0000510
9 constriction of peripheral visual field 31 HP:0001133
10 bone spicule pigmentation of the retina 31 HP:0007737

Symptoms via clinical synopsis from OMIM:

56
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

Search Clinical Trials , 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 29 PRPF31

Anatomical Context for Retinitis Pigmentosa 11

MalaCards organs/tissues related to Retinitis Pigmentosa 11:

40
Breast, Lung, Retina, Thyroid, Myeloid, Bone, Eye

Publications for Retinitis Pigmentosa 11

Articles related to Retinitis Pigmentosa 11:

(show top 50) (show all 625)
# Title Authors PMID Year
1
Variation in retinitis pigmentosa-11 (PRPF31 or RP11) gene expression between symptomatic and asymptomatic patients with dominant RP11 mutations. 61 56 6
16708387 2006
2
Novel deletion in the pre-mRNA splicing gene PRPF31 causes autosomal dominant retinitis pigmentosa in a large Chinese family. 6 56 61
12923864 2003
3
A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11). 56 6 61
11545739 2001
4
Evidence that the penetrance of mutations at the RP11 locus causing dominant retinitis pigmentosa is influenced by a gene linked to the homologous RP11 allele. 6 61 56
9345108 1997
5
Evidence for a major retinitis pigmentosa locus on 19q13.4 (RP11) and association with a unique bimodal expressivity phenotype. 61 6 56
8808602 1996
6
A single-base substitution within an intronic repetitive element causes dominant retinitis pigmentosa with reduced penetrance. 56 6
19618371 2009
7
Mutations in the gene coding for the pre-mRNA splicing factor, PRPF31, in patients with autosomal dominant retinitis pigmentosa. 56 6
17325180 2007
8
Autosomal dominant retinitis pigmentosa with apparent incomplete penetrance: a clinical, electrophysiological, psychophysical, and molecular genetic study. 6 56
8025041 1993
9
Dominant retinitis pigmentosa with reduced penetrance. 6 56
5764686 1969
10
No mutations in the coding region of the PRKCG gene in three families with retinitis pigmentosa linked to the RP11 locus on chromosome 19q. 56 61
10441600 1999
11
Segregation of a PRKCG mutation in two RP11 families. 61 56
9545390 1998
12
In Vivo CRISPR/Cas9 Gene Editing Corrects Retinal Dystrophy in the S334ter-3 Rat Model of Autosomal Dominant Retinitis Pigmentosa. 6
26666451 2016
13
Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). 6
22234150 2012
14
A mutation linked to retinitis pigmentosa in HPRP31 causes protein instability and impairs its interactions with spliceosomal snRNPs. 6
19293337 2009
15
Binding of the human Prp31 Nop domain to a composite RNA-protein platform in U4 snRNP. 6
17412961 2007
16
Nonsyndromic Retinitis Pigmentosa Overview 6
20301590 2000
17
Autosomal dominant retinitis pigmentosa locus on chromosome 19q in a Japanese family. 56
8592343 1995
18
Human genetics. Silence speaks in spectrin. 56
7990951 1994
19
Identification of a sixth locus for autosomal dominant retinitis pigmentosa on chromosome 19. 56
8004108 1994
20
Genetic linkage of cone-rod retinal dystrophy to chromosome 19q and evidence for segregation distortion. 56
8162077 1994
21
Hypoxia-induced lncRNA RP11-390F4.3 promotes epithelial-mesenchymal transition (EMT) and metastasis through upregulating EMT regulators. 61
32353468 2020
22
Correction to: Alleviation of tetrabromobisphenol A toxicity in soybean seedlings by Rhodopseudomonas palustris RP11. 61
32016522 2020
23
Genome-wide screening of functional long noncoding RNAs in the epicardial adipose tissues of atrial fibrillation. 61
32147422 2020
24
Lnc-M2 controls M2 macrophage differentiation via the PKA/CREB pathway. 61
32563859 2020
25
Genome-wide association study of rate of cognitive decline in Alzheimer's disease patients identifies novel genes and pathways. 61
32573913 2020
26
Long non-coding RNA RP11-59H7.3 promotes cell proliferation and invasion metastasis in colorectal cancer by miR-139-5p/NOTCH1 axis. 61
32507766 2020
27
A landscape of circulating long non-coding RNA (lncRNA) expression profile and the predictive value of candidate lncRNAs for disease risk of knee osteoarthritis. 61
32557900 2020
28
Regulation of laryngeal squamous cell cancer progression by the lncRNA RP11-159K7.2/miR-206/DNMT3A axis. 61
32363688 2020
29
The lncRNA RP11-142A22.4 promotes adipogenesis by sponging miR-587 to modulate Wnt5β expression. 61
32561739 2020
30
A Novel and Robust Long Noncoding RNA Panel to Predict the Prognosis of Pancreatic Cancer. 61
32522048 2020
31
RNA Sequencing of Plasma Exosomes Revealed Novel Functional lncRNAs in Hepatocellular Carcinoma. 61
32506598 2020
32
lncRNA- RP11-156p1.3, novel diagnostic and therapeutic targeting via CRISPR/Cas9 editing in hepatocellular carcinoma. 61
32544548 2020
33
A novel lncRNA PLK4 up-regulated by talazoparib represses hepatocellular carcinoma progression by promoting YAP-mediated cell senescence. 61
32243714 2020
34
A four-long noncoding RNA signature predicts survival of hepatocellular carcinoma patients. 61
32474975 2020
35
LncRNA RP11-567G11.1 accelerates the proliferation and invasion of renal cell carcinoma through activating the Notch pathway. 61
32432737 2020
36
Microarray expression profiling of long noncoding RNAs in the progesterone-treated lung cancer cells. 61
32391956 2020
37
Long noncoding RNA RP11-626G11.3 promotes the progression of glioma through miR-375-SP1 axis. 61
32128886 2020
38
Alleviation of tetrabromobisphenol A toxicity in soybean seedlings by Rhodopseudomonas palustris RP1n1. 61
31897538 2020
39
Long non‑coding RNA RP11‑340F14.6 promotes a shift in the Th17/Treg ratio by binding with P2X7R in juvenile idiopathic arthritis. 61
32467993 2020
40
Genetic determinants of reduced arsenic metabolism efficiency in the 10q24.32 region are associated with reduced AS3MT expression in multiple human tissue types. 61
32433756 2020
41
PRKCSH Alternative Splicing Involves in Silica-Induced Expression of Epithelial-Mesenchymal Transition Markers and Cell Proliferation. 61
32425726 2020
42
MIR205HG facilitates carcinogenesis of lung squamous cell carcinoma in vitro revealed by long noncoding RNA profiling. 61
32188965 2020
43
RP11-81H3.2 promotes gastric cancer progression through miR-339-HNRNPA1 interaction network. 61
32052594 2020
44
A novel RNA sequencing-based risk score model to predict papillary thyroid carcinoma recurrence. 61
31792675 2020
45
LncRNA RP11-361F15.2 promotes osteosarcoma tumorigenesis by inhibiting M2-Like polarization of tumor-associated macrophages of CPEB4. 61
31904478 2020
46
Overexpression of long non-coding RNA RP11-363E7.4 inhibits proliferation and invasion in gastric cancer. 61
32141108 2020
47
Polymorphisms of a novel long non-coding RNA RP11-108K3.2 with colorectal cancer susceptibility and their effects on its expression. 61
31789575 2020
48
Long non-coding RNA RP11-820 promotes extracellular matrix production via regulating miR-3178/MYOD1 in human trabecular meshwork cells. 61
31495061 2020
49
A pilot study of lncRNAs expression profile in serum of progressive multiple sclerosis patients. 61
32271444 2020
50
Integrated analysis of a ceRNA network reveals potential prognostic lncRNAs in gastric cancer. 61
31923354 2020

Variations for Retinitis Pigmentosa 11

ClinVar genetic disease variations for Retinitis Pigmentosa 11:

6 (show all 19) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PRPF31 NM_015629.4(PRPF31):c.1291C>T (p.Gln431Ter)SNV Pathogenic 560487 rs1568600184 19:54632662-54632662 19:54129287-54129287
2 PRPF31 GRCh37/hg19 19q13.42(chr19:54618744-54622073)x1copy number loss Pathogenic 599085 19:54618744-54622073
3 PRPF31 PRPF31, 33-BP INS, NT580insertion Pathogenic 4363
4 PRPF31 NM_015629.4(PRPF31):c.770dup (p.Thr258fs)duplication Pathogenic 4364 19:54627948-54627949 19:54124569-54124570
5 PRPF31 NM_015629.4(PRPF31):c.1115_1125del (p.Arg372fs)deletion Pathogenic 4358 rs587776589 19:54631719-54631729 19:54128344-54128354
6 PRPF31 NM_015629.4(PRPF31):c.646G>C (p.Ala216Pro)SNV Pathogenic 4359 rs119475042 19:54627246-54627246 19:54123867-54123867
7 PRPF31 NM_015629.4(PRPF31):c.527+3A>GSNV Pathogenic 4360 rs587776590 19:54626942-54626942 19:54123563-54123563
8 PRPF31 PRPF31, IVS6AS, 42-BP DEL, -3deletion Pathogenic 4361
9 PRPF31 NM_015629.4(PRPF31):c.581C>A (p.Ala194Glu)SNV Pathogenic 4362 rs119475043 19:54627181-54627181 19:54123802-54123802
10 PRPF31 NM_015629.4(PRPF31):c.332_343del (p.His111_Ile114del)deletion Pathogenic 4365 19:54625879-54625890 19:54122500-54122511
11 PRPF31 NM_015629.4(PRPF31):c.1374+654C>GSNV Pathogenic 4366 rs587776591 19:54633399-54633399 19:54130024-54130024
12 PRPF31 NM_015629.4(PRPF31):c.904del (p.Ala302Glnfs)deletion Likely pathogenic 444485 rs1555793828 19:54629950-54629950 19:54126575-54126575
13 PRPF31 NM_015629.4(PRPF31):c.910C>T (p.Arg304Cys)SNV Likely pathogenic 560488 rs750340477 19:54629957-54629957 19:54126582-54126582
14 PRPF31 NM_015629.4(PRPF31):c.1110_1117del (p.Ile371fs)deletion Likely pathogenic 829897 19:54631712-54631719 19:54128337-54128344
15 PRPF31 NM_015629.4(PRPF31):c.527+9G>TSNV Conflicting interpretations of pathogenicity 198220 rs376994481 19:54626948-54626948 19:54123569-54123569
16 PRPF31 NM_015629.4(PRPF31):c.632G>A (p.Arg211Gln)SNV Uncertain significance 500443 rs201806410 19:54627232-54627232 19:54123853-54123853
17 PRPF31 NM_015629.4(PRPF31):c.1007C>G (p.Pro336Arg)SNV Uncertain significance 522515 rs1555794210 19:54631509-54631509 19:54128134-54128134
18 PRPF31 NM_015629.4(PRPF31):c.1140C>T (p.Phe380=)SNV Uncertain significance 623966 rs1411083098 19:54631746-54631746 19:54128371-54128371
19 PRPF31 NM_015629.4(PRPF31):c.935C>T (p.Thr312Ile)SNV Uncertain significance 811919 19:54629982-54629982 19:54126607-54126607

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

73
# Symbol AA change Variation ID SNP ID
1 PRPF31 p.Ala194Glu VAR_025630 rs119475043
2 PRPF31 p.Ala216Pro VAR_025631 rs119475042

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

Biological processes related to Retinitis Pigmentosa 11 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of stem cell differentiation GO:2000736 8.62 MIR146A KDM4C

Sources for Retinitis Pigmentosa 11

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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