MCID: RTN114
MIFTS: 27

Retinitis Pigmentosa 58

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Retinitis Pigmentosa 58

MalaCards integrated aliases for Retinitis Pigmentosa 58:

Name: Retinitis Pigmentosa 58 53 12 71 28 13 14 69
Rp58 53 12 71

Characteristics:

OMIM:

53
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:

OMIM 53 613617
Disease Ontology 12 DOID:0110362
ICD10 32 H35.5
MedGen 39 C3150879
MeSH 41 D012174
UMLS 69 C3150879

Summaries for Retinitis Pigmentosa 58

UniProtKB/Swiss-Prot : 71 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, and has symptoms including nyctalopia, rod-cone dystrophy and optic disc pallor. 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 Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

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 Nonsyndromic Retinitis Pigmentosa

Symptoms & Phenotypes for Retinitis Pigmentosa 58

Symptoms via clinical synopsis from OMIM:

53
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

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 severe visual impairment 31 HP:0001141
5 attenuation of retinal blood vessels 31 HP:0007843
6 peripheral visual field loss 31 HP:0007994
7 bone spicule pigmentation of the retina 31 HP:0007737
8 abnormal light- and dark-adapted electroretinogram 31 HP:0008323

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.55 MYF6
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-117 9.55 MYF6 ZNF513
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 9.55 ZNF513
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.55 MYF6
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 9.55 MYF6
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-15 9.55 MYF6 CBR1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 9.55 ZNF513
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 9.55 MYF6
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-75 9.55 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 28 ZNF513

Anatomical Context for Retinitis Pigmentosa 58

MalaCards organs/tissues related to Retinitis Pigmentosa 58:

38
Bone, Retina, Eye

Publications for Retinitis Pigmentosa 58

Articles related to Retinitis Pigmentosa 58:

# Title Authors Year
1
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
2
A systems approach reveals that the myogenesis genome network is regulated by the transcriptional repressor RP58. ( 20059953 )
2009
3
Structural analysis of the gene encoding RP58, a sequence-specific transrepressor associated with heterochromatin. ( 10721697 )
2000
4
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:

71
# 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

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

Sources for Retinitis Pigmentosa 58

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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