RP11
MCID: RTN041
MIFTS: 41

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 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 lung, breast and myeloid, 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 Nonsyndromic Retinitis Pigmentosa

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

(show top 50) (show all 95)
# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 13 31.2 RP9 PRPF31 LUC7L2
2 retinitis pigmentosa 31.0 YARS1 XIST TMSB15A TMPRSS2 SNCA SLC27A5
3 fibrillary astrocytoma 10.7 LUC7L2 KDM4C H2AC18
4 primary polycythemia 10.7 LUC7L2 KDM4C H2AC18
5 fetal alcohol spectrum disorder 10.7 SLC27A5 KDM4C H2AC18
6 central nervous system benign neoplasm 10.7 LUC7L2 KDM4C H2AC18
7 fetal alcohol syndrome 10.7 SLC27A5 KDM4C H2AC18
8 orofacial cleft 12 10.7 SNCA HRAS
9 retinitis pigmentosa 18 10.7 RP9 PRPF31 H2AC18
10 retinitis pigmentosa 24 10.7 XIST SLC27A5 H2AC18
11 chronic leukemia 10.7 LUC7L2 KDM4C H2AC18
12 hereditary lymphedema 10.7 KDM4C H2AC18 GAPDH
13 hereditary lymphedema i 10.7 KDM4C H2AC18 GAPDH
14 chromosomal duplication syndrome 10.7 SNCA PRODH KDM4C
15 luminal breast carcinoma 10.7 MIR485 KDM4C H2AC18
16 mixed cell type cancer 10.7 PRODH HRAS H2AC18
17 retinitis pigmentosa 34 10.7 RP9 PRPF31
18 neuroretinitis 10.7
19 retinitis 10.7
20 nervous system cancer 10.7 TMSB15A MIR485 KDM4C H2AC18
21 hypotrichosis 1 10.7 KDM4C H2AC18 GAPDH
22 prostate small cell carcinoma 10.7 TMPRSS2 KDM4C
23 retinitis pigmentosa 31 10.7 RP9 PRPF31
24 colonic benign neoplasm 10.7 KDM4C HRAS H2AC18
25 amino acid metabolic disorder 10.7 PRODH KDM4C H2AC18
26 germ cell and embryonal cancer 10.7 KDM4C H2AC18 GAPDH
27 alcohol use disorder 10.7 SLC27A5 PRODH KDM4C H2AC18
28 retinitis pigmentosa 23 10.6 SLC27A5 SDHC H2AC18 GAPDH
29 reproductive system disease 10.6 PRODH MIR485 KDM4C H2AC18
30 sleeping sickness 10.6 PRODH H2AC18 GAPDH
31 chromosomal deletion syndrome 10.6 PRODH H2AC18 FAM230B
32 bone marrow cancer 10.6 LUC7L2 KDM4C HRAS H2AC18
33 hair disease 10.6 KDM4C H2AC18 GAPDH
34 pelizaeus-merzbacher disease 10.6 SDHC PRODH H2AC18 GAPDH
35 episodic kinesigenic dyskinesia 2 10.6 SNCA HRAS
36 pre-malignant neoplasm 10.6 HRAS H2AC18 GAPDH
37 intestinal benign neoplasm 10.6 KDM4C HRAS H2AC18
38 malignant ovarian surface epithelial-stromal neoplasm 10.6 KDM4C HRAS H2AC18 GAPDH
39 ovary epithelial cancer 10.6 KDM4C HRAS H2AC18 GAPDH
40 ovary adenocarcinoma 10.6 HRAS H2AC18 GAPDH
41 bladder disease 10.6 PRODH MIR485 KDM4C H2AC18
42 cerebral degeneration 10.6 PRODH H2AC18 GAPDH
43 bile duct adenocarcinoma 10.6 KDM4C HRAS H2AC18
44 toxic encephalopathy 10.6 SNCA H2AC18 GAPDH
45 hypomyelinating leukodystrophy 10.6 PRODH H2AC18 GAPDH
46 central nervous system cancer 10.6 TMSB15A MIR485 KDM4C H2AC18 CCND2-AS1
47 substance abuse 10.6 SLC27A5 PRODH H2AC18
48 pancreas disease 10.6 PRODH KDM4C HRAS H2AC18
49 x-linked recessive disease 10.6 PRODH H2AC18 GAPDH
50 microphthalmia, isolated 3 10.6 SNCA HRAS

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 rod-cone dystrophy 31 HP:0000510
7 blindness 31 HP:0000618
8 reduced visual acuity 31 HP:0007663
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
Lung, Breast, Myeloid, Eye, Bone, Ovary, Retina

Publications for Retinitis Pigmentosa 11

Articles related to Retinitis Pigmentosa 11:

(show top 50) (show all 583)
# 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. 61 56 6
12923864 2003
3
A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11). 61 56 6
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. 61 56 6
9345108 1997
5
Evidence for a major retinitis pigmentosa locus on 19q13.4 (RP11) and association with a unique bimodal expressivity phenotype. 61 56 6
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. 56 6
8025041 1993
9
Dominant retinitis pigmentosa with reduced penetrance. 56 6
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. 61 56
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
LncRNA RP11-361F15.2 promotes osteosarcoma tumorigenesis by inhibiting M2-Like polarization of tumor-associated macrophages of CPEB4. 61
31904478 2020
22
Correction to: Alleviation of tetrabromobisphenol A toxicity in soybean seedlings by Rhodopseudomonas palustris RP11. 61
32016522 2020
23
Identification of aberrantly expressed lncRNA and the associated TF-mRNA network in hepatocellular carcinoma. 61
31498488 2020
24
Paraburkholderia madseniana sp. nov., a phenolic acid-degrading bacterium isolated from acidic forest soil. 61
32027304 2020
25
Comprehensive analysis of long noncoding RNA and mRNA in five colorectal cancer tissues and five normal tissues. 61
32016349 2020
26
Hesperidin suppressed hepatic precancerous lesions via modulation of exophagy in rats. 61
31489981 2020
27
Characterization of a 4 lncRNAs-based prognostic risk scoring system in adults with acute myeloid leukemia. 61
31739140 2020
28
Alleviation of tetrabromobisphenol A toxicity in soybean seedlings by Rhodopseudomonas palustris RP1n1. 61
31897538 2020
29
CeRNA regulatory network-based analysis to study the roles of noncoding RNAs in the pathogenesis of intrahepatic cholangiocellular carcinoma. 61
31956102 2020
30
A seven long-noncoding RNA signature predicts prognosis of lung squamous cell carcinoma. 61
31729251 2020
31
LncRNA AC093818.1 accelerates gastric cancer metastasis by epigenetically promoting PDK1 expression. 61
31988283 2020
32
Integrated analysis of a ceRNA network reveals potential prognostic lncRNAs in gastric cancer. 61
31923354 2020
33
Expression of the long noncoding RNA RP11-169D4.1-001 in Hypopharyngeal Squamous cell carcinoma tissue and its clinical significance. 61
31512299 2020
34
DC-SIGN mediates gastric cancer progression by regulating the JAK2/STAT3 signaling pathway and affecting LncRNA RP11-181G12.2 expression. 61
31766099 2020
35
LncRNA RP11-19E11 is an E2F1 target required for proliferation and survival of basal breast cancer. 61
31934613 2020
36
RP11-874J12.4 promotes oral squamous cell carcinoma tumorigenesis via the miR-19a-5p/EBF1 axis. 61
32004389 2020
37
RP11-284F21.9 promotes oral squamous cell carcinoma development via the miR-383-5p/MAL2 axis. 61
31397491 2020
38
A Transcriptome-Wide Association Study (TWAS) Identifies Novel Candidate Susceptibility Genes for Pancreatic Cancer. 61
31917448 2020
39
The lncRNAs RP1-261G23.7, RP11-69E11.4 and SATB2-AS1 are a novel clinical signature for predicting recurrent osteosarcoma. 61
31850493 2020
40
Long non-coding RNA RP11-480I12.5 promotes cervical carcinoma progression by regulating the Wnt/β-catenin signaling pathway. 61
31897160 2020
41
A novel RNA sequencing-based risk score model to predict papillary thyroid carcinoma recurrence. 61
31792675 2019
42
Polymorphisms of a novel long non-coding RNA RP11-108K3.2 with colorectal cancer susceptibility and their effects on its expression. 61
31789575 2019
43
Genome-wide association study of morbid obesity in Han Chinese. 61
31852448 2019
44
RP11-81H3.2 Acts as an Oncogene via microRNA-490-3p Inhibition and Consequential Tankyrase 2 Up-Regulation in Hepatocellular Carcinoma. 61
31858324 2019
45
Uncovering potential lncRNAs and nearby mRNAs in systemic lupus erythematosus from the Gene Expression Omnibus dataset. 61
31755746 2019
46
Genome-wide identification of lncRNAs as novel prognosis biomarkers of glioma. 61
31297871 2019
47
A three long non-coding RNA signature to improve survival prediction in patients with Wilms' tumor. 61
31788091 2019
48
Bat influenza viruses transmit among bats but are poorly adapted to non-bat species. 61
31527796 2019
49
Expression Profile and Function Analysis of Long Non-coding RNAs in the Infection of Coxsackievirus B3. 61
31388922 2019
50
LncRNA ODIR1 inhibits osteogenic differentiation of hUC-MSCs through the FBXO25/H2BK120ub/H3K4me3/OSX axis. 61
31827076 2019

Variations for Retinitis Pigmentosa 11

ClinVar genetic disease variations for Retinitis Pigmentosa 11:

6 (show all 15) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PRPF31 NM_015629.4(PRPF31):c.527+3A>GSNV Pathogenic 4360 rs587776590 19:54626942-54626942 19:54123563-54123563
2 PRPF31 PRPF31, IVS6AS, 42-BP DEL, -3deletion Pathogenic 4361
3 PRPF31 NM_015629.4(PRPF31):c.1115_1125del (p.Arg372fs)deletion Pathogenic 4358 rs587776589 19:54631719-54631729 19:54128344-54128354
4 PRPF31 NM_015629.4(PRPF31):c.646G>C (p.Ala216Pro)SNV Pathogenic 4359 rs119475042 19:54627246-54627246 19:54123867-54123867
5 PRPF31 NM_015629.4(PRPF31):c.581C>A (p.Ala194Glu)SNV Pathogenic 4362 rs119475043 19:54627181-54627181 19:54123802-54123802
6 PRPF31 PRPF31, 33-BP INS, NT580insertion Pathogenic 4363
7 PRPF31 NM_015629.4(PRPF31):c.770dup (p.Thr258fs)duplication Pathogenic 4364 19:54627948-54627949 19:54124569-54124570
8 PRPF31 NM_015629.4(PRPF31):c.332_343del (p.His111_Ile114del)deletion Pathogenic 4365 19:54625879-54625890 19:54122500-54122511
9 PRPF31 NM_015629.4(PRPF31):c.1374+654C>GSNV Pathogenic 4366 rs587776591 19:54633399-54633399 19:54130024-54130024
10 PRPF31 NM_015629.4(PRPF31):c.1291C>T (p.Gln431Ter)SNV Pathogenic 560487 rs1568600184 19:54632662-54632662 19:54129287-54129287
11 PRPF31 GRCh37/hg19 19q13.42(chr19:54618744-54622073)x1copy number loss Pathogenic 599085 19:54618744-54622073
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.527+9G>TSNV Conflicting interpretations of pathogenicity 198220 rs376994481 19:54626948-54626948 19:54123569-54123569
14 PRPF31 NM_015629.4(PRPF31):c.1007C>G (p.Pro336Arg)SNV Uncertain significance 522515 rs1555794210 19:54631509-54631509 19:54128134-54128134
15 PRPF31 NM_015629.4(PRPF31):c.910C>T (p.Arg304Cys)SNV Uncertain significance 560488 rs750340477 19:54629957-54629957 19:54126582-54126582

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 oxidation-reduction process GO:0055114 9.1 SNCA SLC27A5 SDHC PRODH KDM4C GAPDH

Molecular functions related to Retinitis Pigmentosa 11 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.02 SNCA SLC27A5 PRODH KDM4C GAPDH

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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