MCID: RTN210
MIFTS: 32

Retinitis Pigmentosa 50

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Retinitis Pigmentosa 50

MalaCards integrated aliases for Retinitis Pigmentosa 50:

Name: Retinitis Pigmentosa 50 53 12 71 28 14
Retinitis Pigmentosa, Concentric 53 28 13 69
Rp50 53 12 71
Retinitis Pigmentosa Concentric 71
Retinitis Pigmentosa-50 53

Characteristics:

HPO:

31
retinitis pigmentosa 50:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 613194
Disease Ontology 12 DOID:0110396
ICD10 32 H35.5
MeSH 41 D012174
UMLS 69 C2750789

Summaries for Retinitis Pigmentosa 50

UniProtKB/Swiss-Prot : 71 Retinitis pigmentosa 50: 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 50, also known as retinitis pigmentosa, concentric, is related to peripheral retinal degeneration and rhyns syndrome, and has symptoms including rod-cone dystrophy, abnormal electroretinogram and retinal detachment. An important gene associated with Retinitis Pigmentosa 50 is BEST1 (Bestrophin 1), and among its related pathways/superpathways are Amphetamine addiction and NF-kappa B signaling pathway. Affiliated tissues include eye, and related phenotype is Downregulation of NFkappaB pathway.

Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation in the BEST1 gene on chromosome 11q13.

Description from OMIM: 613194

Related Diseases for Retinitis Pigmentosa 50

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

Diseases related to Retinitis Pigmentosa 50 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 peripheral retinal degeneration 10.1 BEST1 RPGR
2 rhyns syndrome 10.1 BEST1 RPGR
3 retinitis pigmentosa 72 10.0 CD7 RPGR
4 retinal disease 10.0 BEST1 RPGR
5 retinitis pigmentosa 26 9.9 CD7 RPGR
6 fundus dystrophy 9.9 BEST1 RPGR
7 retinitis pigmentosa 9.8
8 leber congenital amaurosis 4 9.8
9 t-cell leukemia 9.4 CD7 ERVW-1

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 50:



Diseases related to Retinitis Pigmentosa 50

Symptoms & Phenotypes for Retinitis Pigmentosa 50

Clinical features from OMIM:

613194

Human phenotypes related to Retinitis Pigmentosa 50:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 31 HP:0000510
2 abnormal electroretinogram 31 HP:0000512
3 retinal detachment 31 HP:0000541
4 optic disc pallor 31 HP:0000543
5 nyctalopia 31 HP:0000662
6 reduced visual acuity 31 HP:0007663
7 attenuation of retinal blood vessels 31 HP:0007843
8 retinal flecks 31 HP:0012045

GenomeRNAi Phenotypes related to Retinitis Pigmentosa 50 according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Downregulation of NFkappaB pathway GR00313-A 8.62 CD7 RELA

Drugs & Therapeutics for Retinitis Pigmentosa 50

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 50

Genetic Tests for Retinitis Pigmentosa 50

Genetic tests related to Retinitis Pigmentosa 50:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 50 28 BEST1
2 Retinitis Pigmentosa, Concentric 28

Anatomical Context for Retinitis Pigmentosa 50

MalaCards organs/tissues related to Retinitis Pigmentosa 50:

38
Eye

Publications for Retinitis Pigmentosa 50

Variations for Retinitis Pigmentosa 50

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 50:

71
# Symbol AA change Variation ID SNP ID
1 BEST1 p.Tyr227Cys VAR_000853 rs267606677
2 BEST1 p.Leu140Val VAR_063169 rs267606678
3 BEST1 p.Ile205Thr VAR_063170 rs267606680
4 BEST1 p.Asp228Asn VAR_063171 rs267606676

ClinVar genetic disease variations for Retinitis Pigmentosa 50:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 BEST1 NM_004183.3(BEST1): c.614T> C (p.Ile205Thr) single nucleotide variant Pathogenic rs267606680 GRCh37 Chromosome 11, 61724448: 61724448
2 BEST1 NM_004183.3(BEST1): c.682G> A (p.Asp228Asn) single nucleotide variant Pathogenic/Likely pathogenic rs267606676 GRCh37 Chromosome 11, 61724904: 61724904
3 BEST1 NM_004183.3(BEST1): c.680A> G (p.Tyr227Cys) single nucleotide variant Pathogenic/Likely pathogenic rs267606677 GRCh37 Chromosome 11, 61724902: 61724902
4 BEST1 NM_004183.3(BEST1): c.418C> G (p.Leu140Val) single nucleotide variant Pathogenic rs267606678 GRCh37 Chromosome 11, 61723360: 61723360

Expression for Retinitis Pigmentosa 50

Search GEO for disease gene expression data for Retinitis Pigmentosa 50.

Pathways for Retinitis Pigmentosa 50

Pathways related to Retinitis Pigmentosa 50 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.22 MAOA RELA
2 10.93 PARP1 RELA
3 10.59 PARP1 RELA

GO Terms for Retinitis Pigmentosa 50

Molecular functions related to Retinitis Pigmentosa 50 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 histone deacetylase binding GO:0042826 8.96 PARP1 RELA
2 protein N-terminus binding GO:0047485 8.62 PARP1 RELA

Sources for Retinitis Pigmentosa 50

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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