RP58
MCID: RTN114
MIFTS: 30

Retinitis Pigmentosa 58 (RP58)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 58

MalaCards integrated aliases for Retinitis Pigmentosa 58:

Name: Retinitis Pigmentosa 58 58 12 76 30 13 6 15 74
Rp58 58 12 76
Retinitis Pigmentosa, Type 58 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
retinitis pigmentosa 58:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110362
OMIM 58 613617
MeSH 45 D012174
ICD10 34 H35.5
MedGen 43 C3150879
UMLS 74 C3150879

Summaries for Retinitis Pigmentosa 58

UniProtKB/Swiss-Prot : 76 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, is also known as rp58. An important gene associated with Retinitis Pigmentosa 58 is ZNF513 (Zinc Finger Protein 513). Affiliated tissues include bone, retina and eye, 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.

Description from OMIM: 613617

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
Nonsyndromic Retinitis Pigmentosa

Symptoms & Phenotypes for Retinitis Pigmentosa 58

Human phenotypes related to Retinitis Pigmentosa 58:

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 nyctalopia 33 HP:0000662
2 rod-cone dystrophy 33 HP:0000510
3 optic disc pallor 33 HP:0000543
4 peripheral visual field loss 33 HP:0007994
5 severely reduced visual acuity 33 HP:0001141
6 attenuation of retinal blood vessels 33 HP:0007843
7 bone spicule pigmentation of the retina 33 HP:0007737
8 abnormal light- and dark-adapted electroretinogram 33 HP:0008323

Symptoms via clinical synopsis from OMIM:

58
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:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-117 9.5 MYF6 ZNF513
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 9.5 ZNF513
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.5 MYF6
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 9.5 MYF6
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-15 9.5 CBR1 MYF6
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 9.5 ZNF513
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 9.5 MYF6
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-75 9.5 CBR1

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 30 ZNF513

Anatomical Context for Retinitis Pigmentosa 58

MalaCards organs/tissues related to Retinitis Pigmentosa 58:

42
Bone, Retina, Eye, Cortex, Brain, Cerebellum

Publications for Retinitis Pigmentosa 58

Articles related to Retinitis Pigmentosa 58:

(show all 18)
# Title Authors Year
1
Correction to: Rp58 and p27kip1 coordinate cell cycle exit and neuronal migration within the embryonic mouse cerebral cortex. ( 29325591 )
2018
2
Regulation of brain development and brain function by the transcriptional repressor RP58. ( 29501651 )
2018
3
Rp58 and p27kip1 coordinate cell cycle exit and neuronal migration within the embryonic mouse cerebral cortex. ( 28506232 )
2017
4
The zinc finger transcription factor RP58 negatively regulates Rnd2 for the control of neuronal migration during cerebral cortical development. ( 24084125 )
2015
5
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. ( 25817480 )
2015
6
RP58 regulates the multipolar-bipolar transition of newborn neurons in the developing cerebral cortex. ( 23395638 )
2013
7
RP58/ZNF238 directly modulates proneurogenic gene levels and is required for neuronal differentiation and brain expansion. ( 22095278 )
2012
8
The 5'-flanking region of the RP58 coding sequence shows prominent promoter activity in multipolar cells in the subventricular zone during corticogenesis. ( 22119643 )
2012
9
RP58 controls neuron and astrocyte differentiation by downregulating the expression of Id1-4 genes in the developing cortex. ( 22234186 )
2012
10
Rp58 is essential for the growth and patterning of the cerebellum and for glutamatergic and GABAergic neuron development. ( 22513377 )
2012
11
A mutation in ZNF513, a putative regulator of photoreceptor development, causes autosomal-recessive retinitis pigmentosa. ( 20797688 )
2010
12
A novel locus for autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family maps to chromosome 2p. ( 20227676 )
2010
13
The transcriptional repressor RP58 is crucial for cell-division patterning and neuronal survival in the developing cortex. ( 19409883 )
2009
14
A systems approach reveals that the myogenesis genome network is regulated by the transcriptional repressor RP58. ( 20059953 )
2009
15
Co-localization of a novel transcriptional repressor simiRP58 with RP58. ( 18262495 )
2008
16
Spatial and temporal expression of RP58, a novel zinc finger transcriptional repressor, in mouse brain. ( 17447250 )
2007
17
Structural analysis of the gene encoding RP58, a sequence-specific transrepressor associated with heterochromatin. ( 10721697 )
2000
18
RP58 associates with condensed chromatin and mediates a sequence-specific transcriptional repression. ( 9756912 )
1998

Variations for Retinitis Pigmentosa 58

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

76
# Symbol AA change Variation ID SNP ID
1 ZNF513 p.Cys339Arg VAR_064926 rs267607182

ClinVar genetic disease variations for Retinitis Pigmentosa 58:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ZNF513 NM_144631.5(ZNF513): c.1015T> C (p.Cys339Arg) single nucleotide variant Pathogenic rs267607182 GRCh37 Chromosome 2, 27601023: 27601023
2 ZNF513 NM_144631.5(ZNF513): c.1015T> C (p.Cys339Arg) single nucleotide variant Pathogenic rs267607182 GRCh38 Chromosome 2, 27378156: 27378156
3 ZNF513 NM_144631.5(ZNF513): c.781G> A (p.Val261Met) single nucleotide variant Uncertain significance rs61742428 GRCh37 Chromosome 2, 27601352: 27601352
4 ZNF513 NM_144631.5(ZNF513): c.781G> A (p.Val261Met) single nucleotide variant Uncertain significance rs61742428 GRCh38 Chromosome 2, 27378485: 27378485

Expression for Retinitis Pigmentosa 58

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

Pathways for Retinitis Pigmentosa 58

GO Terms for Retinitis Pigmentosa 58

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

# Name GO ID Score Top Affiliating Genes
1 skeletal muscle tissue development GO:0007519 8.62 MYF6 ZBTB18

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

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 8.92 ATOH1 MYF6 ZBTB18 ZNF513

Sources for Retinitis Pigmentosa 58

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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