RP58
MCID: RTN114
MIFTS: 40

Retinitis Pigmentosa 58 (RP58)

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

Aliases & Classifications for Retinitis Pigmentosa 58

MalaCards integrated aliases for Retinitis Pigmentosa 58:

Name: Retinitis Pigmentosa 58 56 12 73 29 13 6 15 71
Rp58 56 12 73
Retinitis Pigmentosa, Type 58 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
one consanguineous pakistani family has been described (last curated october 2016)


HPO:

31
retinitis pigmentosa 58:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110362
OMIM 56 613617
OMIM Phenotypic Series 56 PS268000
MeSH 43 D012174
ICD10 32 H35.5
MedGen 41 C3150879
UMLS 71 C3150879

Summaries for Retinitis Pigmentosa 58

UniProtKB/Swiss-Prot : 73 Retinitis pigmentosa 58: 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 58, also known as rp58, is related to helix syndrome and cerebellar hypoplasia. An important gene associated with Retinitis Pigmentosa 58 is ZNF513 (Zinc Finger Protein 513), and among its related pathways/superpathways are Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways and Neural Stem Cells and Lineage-specific Markers. Affiliated tissues include retina, bone and cortex, and related phenotypes are nyctalopia and rod-cone dystrophy

Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation in the ZNF513 gene on chromosome 2p23.

More information from OMIM: 613617 PS268000

Related Diseases for Retinitis Pigmentosa 58

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

# Related Disease Score Top Affiliating Genes
1 helix syndrome 10.2
2 cerebellar hypoplasia 10.2
3 retinitis pigmentosa 71 10.1 ZNF513 ARHGEF18
4 cerebellar ataxia, deafness, and narcolepsy, autosomal dominant 10.0 DNMT3A DMAP1
5 neuropathy, hereditary sensory, type ie 9.9 DNMT3A DMAP1
6 retinitis pigmentosa 8.4 ZNF513 ZBTB18 TBR1 RND2 NR2F1 NEUROG2

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 58:



Diseases related to Retinitis Pigmentosa 58

Symptoms & Phenotypes for Retinitis Pigmentosa 58

Human phenotypes related to Retinitis Pigmentosa 58:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 nyctalopia 31 HP:0000662
2 rod-cone dystrophy 31 HP:0000510
3 optic disc pallor 31 HP:0000543
4 peripheral visual field loss 31 HP:0007994
5 severely reduced visual acuity 31 HP:0001141
6 attenuation of retinal blood vessels 31 HP:0007843
7 bone spicule pigmentation of the retina 31 HP:0007737
8 abnormal light- and dark-adapted electroretinogram 31 HP:0008323

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
night blindness, progressive
loss of peripheral vision
waxy pale optic disc
attenuation of retinal arteries
bone spicule pigment deposits in midperiphery of retina
more

Clinical features from OMIM:

613617

GenomeRNAi Phenotypes related to Retinitis Pigmentosa 58 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 9.66 ARHGEF18
2 Decreased viability GR00055-A-2 9.66 ARHGEF18
3 Decreased viability GR00106-A-0 9.66 NR2F1
4 Decreased viability GR00249-S 9.66 ARHGEF18 PRDM8 RND2 SP1 TBR1 THAP12
5 Decreased viability GR00381-A-1 9.66 ADNP2 PRAM1 THAP12 ZSCAN21
6 Decreased viability GR00386-A-1 9.66 ADNP2 ZNF513
7 Decreased viability GR00402-S-2 9.66 ADNP2 DMAP1 DNMT3A PRAM1 SP1 ZNF513

MGI Mouse Phenotypes related to Retinitis Pigmentosa 58:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.77 ADNP2 ARHGEF18 ASCL1 DMAP1 DNMT3A MYOD1
2 no phenotypic analysis MP:0003012 9.1 ARHGEF18 ASCL1 DMAP1 MYOD1 NEUROG2 NR2F1

Drugs & Therapeutics for Retinitis Pigmentosa 58

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 58

Genetic Tests for Retinitis Pigmentosa 58

Genetic tests related to Retinitis Pigmentosa 58:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 58 29 ZNF513

Anatomical Context for Retinitis Pigmentosa 58

MalaCards organs/tissues related to Retinitis Pigmentosa 58:

40
Retina, Bone, Cortex, Eye, Brain, Cerebellum

Publications for Retinitis Pigmentosa 58

Articles related to Retinitis Pigmentosa 58:

(show all 35)
# Title Authors PMID Year
1
A mutation in ZNF513, a putative regulator of photoreceptor development, causes autosomal-recessive retinitis pigmentosa. 56 6
20797688 2010
2
A novel locus for autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family maps to chromosome 2p. 56 6
20227676 2010
3
In Vivo CRISPR/Cas9 Gene Editing Corrects Retinal Dystrophy in the S334ter-3 Rat Model of Autosomal Dominant Retinitis Pigmentosa. 6
26666451 2016
4
Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). 6
22234150 2012
5
Nonsyndromic Retinitis Pigmentosa Overview 6
20301590 2000
6
Disease-associated missense variants in ZBTB18 disrupt DNA binding and impair the development of neurons within the embryonic cerebral cortex. 61
31112317 2019
7
Regulation of brain development and brain function by the transcriptional repressor RP58. 61
29501651 2019
8
FOXG1 Orchestrates Neocortical Organization and Cortico-Cortical Connections. 61
30392794 2018
9
Correction to: Rp58 and p27kip1 coordinate cell cycle exit and neuronal migration within the embryonic mouse cerebral cortex. 61
29325591 2018
10
Analysis of Bos taurus and Sus scrofa X and Y chromosome transcriptome highlights reproductive driver genes. 61
28903352 2017
11
Epigenetic Regulation of ZBTB18 Promotes Glioblastoma Progression. 61
28512252 2017
12
Rp58 and p27kip1 coordinate cell cycle exit and neuronal migration within the embryonic mouse cerebral cortex. 61
28506232 2017
13
Analysis of tandem E-box motifs within human Complement receptor 2 (CR2/CD21) promoter reveals cell specific roles for RP58, E2A, USF and localized chromatin accessibility. 61
25817480 2015
14
The zinc finger transcription factor RP58 negatively regulates Rnd2 for the control of neuronal migration during cerebral cortical development. 61
24084125 2015
15
Bioinformatics analysis of biomarkers and transcriptional factor motifs in Down syndrome. 61
25118625 2014
16
Outer retinal tubulation in inherited retinal degenerative disease. 61
23538577 2013
17
RP58 regulates the multipolar-bipolar transition of newborn neurons in the developing cerebral cortex. 61
23395638 2013
18
Rp58 is essential for the growth and patterning of the cerebellum and for glutamatergic and GABAergic neuron development. 61
22513377 2012
19
RP58/ZNF238 directly modulates proneurogenic gene levels and is required for neuronal differentiation and brain expansion. 61
22095278 2012
20
RP58 controls neuron and astrocyte differentiation by downregulating the expression of Id1-4 genes in the developing cortex. 61
22234186 2012
21
The 5'-flanking region of the RP58 coding sequence shows prominent promoter activity in multipolar cells in the subventricular zone during corticogenesis. 61
22119643 2012
22
The 5' flanking region and intron1 of the bovine prion protein gene (PRNP) are responsible for negative feedback regulation of the prion protein. 61
22412936 2012
23
The myogenic transcriptional network. 61
21318263 2011
24
A systems approach reveals that the myogenesis genome network is regulated by the transcriptional repressor RP58. 61
20059953 2009
25
The transcriptional repressor RP58 is crucial for cell-division patterning and neuronal survival in the developing cortex. 61
19409883 2009
26
Co-localization of a novel transcriptional repressor simiRP58 with RP58. 61
18262495 2008
27
Short communication: Allele, genotype, and haplotype data for bovine spongiform encephalopathy-resistance polymorphisms from healthy US Holstein cattle. 61
18096956 2008
28
Spatial and temporal expression of RP58, a novel zinc finger transcriptional repressor, in mouse brain. 61
17447250 2007
29
Bovine prion protein gene (PRNP) promoter polymorphisms modulate PRNP expression and may be responsible for differences in bovine spongiform encephalopathy susceptibility. 61
16141216 2005
30
Detection of novel oral phylotypes associated with periodontitis. 61
12445647 2002
31
Dnmt3a binds deacetylases and is recruited by a sequence-specific repressor to silence transcription. 61
11350943 2001
32
Cloning and Distribution of rRP58, A Novel Neuronal Gene. 61
12040400 2001
33
Structural analysis of the gene encoding RP58, a sequence-specific transrepressor associated with heterochromatin. 61
10721697 2000
34
RP58 associates with condensed chromatin and mediates a sequence-specific transcriptional repression. 61
9756912 1998
35
Stable expression of a cDNA encoding rat brain protein kinase C-beta I confers a multidrug-resistant phenotype on rat fibroblasts. 61
1622123 1992

Variations for Retinitis Pigmentosa 58

ClinVar genetic disease variations for Retinitis Pigmentosa 58:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ZNF513 NM_144631.6(ZNF513):c.781G>A (p.Val261Met)SNV Conflicting interpretations of pathogenicity 167864 rs61742428 2:27601352-27601352 2:27378485-27378485
2 ZNF513 NM_144631.6(ZNF513):c.-96G>ASNV Uncertain significance 898692 2:27603489-27603489 2:27380622-27380622
3 ZNF513 NM_144631.6(ZNF513):c.1015T>C (p.Cys339Arg)SNV Uncertain significance 28 rs267607182 2:27601023-27601023 2:27378156-27378156

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 58:

73
# Symbol AA change Variation ID SNP ID
1 ZNF513 p.Cys339Arg VAR_064926 rs267607182

Expression for Retinitis Pigmentosa 58

Search GEO for disease gene expression data for Retinitis Pigmentosa 58.

Pathways for Retinitis Pigmentosa 58

Pathways related to Retinitis Pigmentosa 58 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.64 SP1 NEUROD1 ASCL1
2 11.03 NEUROG2 NEUROD1 ASCL1
3 10.55 SP1 NR2F1
4 10.28 NEUROG2 NEUROD1 ASCL1

GO Terms for Retinitis Pigmentosa 58

Cellular components related to Retinitis Pigmentosa 58 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.83 ZSCAN21 ZNF513 ZBTB44 ZBTB18 TBR1 SP1
2 nuclear chromatin GO:0000790 9.17 THAP12 SP1 NEUROG2 NEUROD1 MYOD1 ASCL1

Biological processes related to Retinitis Pigmentosa 58 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 9.92 ZSCAN21 TBR1 SP1 PRDM8 NR2F1 NEUROG2
2 negative regulation of transcription by RNA polymerase II GO:0000122 9.88 ZBTB18 TBR1 NR2F1 DNMT3A DMAP1 ASCL1
3 negative regulation of transcription, DNA-templated GO:0045892 9.85 ZBTB18 TBR1 PRDM8 DMAP1 ASCL1
4 nervous system development GO:0007399 9.83 PRDM8 NR2F1 NEUROG2 NEUROD1 ASCL1
5 regulation of transcription by RNA polymerase II GO:0006357 9.7 THAP12 SP1 NR2F1 NEUROG2 MYOD1 ASCL1
6 regulation of gene expression GO:0010468 9.65 ZNF513 TBR1 MYOD1 DNMT3A ASCL1
7 positive regulation of transcription by RNA polymerase II GO:0045944 9.56 ZSCAN21 ZBTB18 TBR1 SP1 NR2F1 NEUROD1
8 oligodendrocyte development GO:0014003 9.51 PRDM8 ASCL1
9 DNA methylation GO:0006306 9.49 DNMT3A DMAP1
10 hindbrain development GO:0030902 9.48 TBR1 NEUROD1
11 commitment of neuronal cell to specific neuron type in forebrain GO:0021902 9.37 TBR1 ASCL1
12 neuron differentiation GO:0030182 9.02 TBR1 NEUROG2 DNMT3A ASCL1 ADNP2

Molecular functions related to Retinitis Pigmentosa 58 according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.46 ZSCAN21 ZNF513 ZBTB44 ZBTB18 THAP12 TBR1
2 metal ion binding GO:0046872 10.28 ZSCAN21 ZNF513 ZBTB44 ZBTB18 THAP12 SP1
3 nucleic acid binding GO:0003676 10.06 ZSCAN21 ZNF513 ZBTB44 ZBTB18 THAP12 SP1
4 sequence-specific DNA binding GO:0043565 9.97 ZBTB18 SP1 NR2F1 NEUROD1 MYOD1 ASCL1
5 DNA-binding transcription factor activity GO:0003700 9.97 ZSCAN21 ZBTB18 TBR1 SP1 NR2F1 NEUROD1
6 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.92 ZSCAN21 TBR1 SP1 NEUROD1 MYOD1
7 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.88 TBR1 SP1 NR2F1 MYOD1 ASCL1
8 transcription factor binding GO:0008134 9.85 SP1 NEUROD1 MYOD1 DNMT3A ASCL1
9 transcription coactivator activity GO:0003713 9.83 ZBTB18 SP1 NR2F1 NEUROD1 MYOD1
10 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.76 ZSCAN21 TBR1 SP1 NR2F1 NEUROD1 MYOD1
11 double-stranded DNA binding GO:0003690 9.72 SP1 NEUROD1 ASCL1
12 protein dimerization activity GO:0046983 9.72 THAP12 NEUROG2 NEUROD1 MYOD1 ASCL1
13 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.61 THAP12 TBR1 SP1 NR2F1 NEUROG2 NEUROD1
14 bHLH transcription factor binding GO:0043425 9.56 SP1 ASCL1
15 E-box binding GO:0070888 9.56 NEUROG2 NEUROD1 MYOD1 ASCL1
16 DNA binding GO:0003677 9.5 ZSCAN21 ZNF513 ZBTB44 ZBTB18 THAP12 TBR1

Sources for Retinitis Pigmentosa 58

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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