RP50
MCID: RTN210
MIFTS: 37

Retinitis Pigmentosa 50 (RP50)

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

Aliases & Classifications for Retinitis Pigmentosa 50

MalaCards integrated aliases for Retinitis Pigmentosa 50:

Name: Retinitis Pigmentosa 50 57 12 72 29 6 15
Retinitis Pigmentosa, Concentric 57 13 70
Rp50 57 12 72
Retinitis Pigmentosa Concentric 72
Retinitis Pigmentosa, Type 50 39
Retinitis Pigmentosa-50 57

Characteristics:

HPO:

31
retinitis pigmentosa 50:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110396
OMIM® 57 613194
OMIM Phenotypic Series 57 PS268000
MeSH 44 D012174
ICD10 32 H35.5
UMLS 70 C2750789

Summaries for Retinitis Pigmentosa 50

UniProtKB/Swiss-Prot : 72 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 hereditary retinal dystrophy and choroid disease. An important gene associated with Retinitis Pigmentosa 50 is BEST1 (Bestrophin 1), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Chromatin Regulation / Acetylation. Affiliated tissues include eye and retina, and related phenotypes are abnormal electroretinogram and retinal detachment

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

More information from OMIM: 613194 PS268000

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 Retinitis Pigmentosa 83
Retinitis Pigmentosa 84 Retinitis Pigmentosa 85
Retinitis Pigmentosa 86 Retinitis Pigmentosa 88
Retinitis Pigmentosa 89 Retinitis Pigmentosa 90
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 hereditary retinal dystrophy 10.1 EYS BEST1
2 choroid disease 10.1 EYS BEST1
3 acrodermatitis enteropathica, zinc-deficiency type 10.1 SLC39A1 SLC30A1
4 hemochromatosis, type 4 9.9 HEPH CYBRD1
5 iron metabolism disease 9.9 HEPH CYBRD1
6 hemochromatosis type 2 9.9 HEPH CYBRD1
7 metal metabolism disorder 9.8 HEPH CYBRD1
8 hemochromatosis, type 1 9.5 SLC39A1 HEPH CYBRD1

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



Diseases related to Retinitis Pigmentosa 50

Symptoms & Phenotypes for Retinitis Pigmentosa 50

Human phenotypes related to Retinitis Pigmentosa 50:

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

Clinical features from OMIM®:

613194 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Retinitis Pigmentosa 50:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 8.92 ACD BEST1 HEPH RUVBL2

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 29 BEST1

Anatomical Context for Retinitis Pigmentosa 50

MalaCards organs/tissues related to Retinitis Pigmentosa 50:

40
Eye, Retina

Publications for Retinitis Pigmentosa 50

Articles related to Retinitis Pigmentosa 50:

(show all 14)
# Title Authors PMID Year
1
Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa. 6 57
19853238 2009
2
Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease). 6
9700209 1998
3
Combining CDP-choline and galantamine, an optimized α7 nicotinic strategy, to ameliorate sensory gating to speech stimuli in schizophrenia. 61
30790597 2019
4
Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy (ARB). 61
31766397 2019
5
Combining CDP-choline and galantamine: Effects of a selective α7 nicotinic acetylcholine receptor agonist strategy on P50 sensory gating of speech sounds in healthy volunteers. 61
30920339 2019
6
Higher Fresh Gas Flow Rates Decrease Tidal Volume During Pressure Control Ventilation. 61
28333703 2017
7
The separate and combined effects of monoamine oxidase inhibition and nicotine on P50 sensory gating. 61
25466703 2015
8
An efficient synthesis and antioxidant properties of novel imino and amino derivatives of 4-hydroxy coumarins. 61
20191339 2010
9
Evidence for regulation of NF-kappaB by poly(ADP-ribose) polymerase. 61
10698690 2000
10
A comparison of the CPAP performance characteristics of the Puritan-Bennett 7200a and a prototype continuous pressure-regulating ventilator. 61
10145988 1994
11
Heating pattern of helical microwave intracavitary oesophageal applicator. 61
1919153 1991
12
[Formation of virus-like particles by HIV-1 Gag proteins, expressed by a recombinant vaccinia virus]. 61
2094814 1990
13
Intracellular localization of recombinant vaccinia virus produced HIV antigens and their use for confirmation of HIV seropositivity. 61
1981459 1990
14
[An analysis of blood sera by the immunoblot method using natural and recombinant antigens of the human immunodeficiency virus]. 61
3073570 1988

Variations for Retinitis Pigmentosa 50

ClinVar genetic disease variations for Retinitis Pigmentosa 50:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 BEST1 NM_004183.4(BEST1):c.614T>C (p.Ile205Thr) SNV Pathogenic 2747 rs267606680 GRCh37: 11:61724448-61724448
GRCh38: 11:61956976-61956976
2 BEST1 NM_004183.4(BEST1):c.680A>G (p.Tyr227Cys) SNV Pathogenic 2749 rs267606677 GRCh37: 11:61724902-61724902
GRCh38: 11:61957430-61957430
3 BEST1 NM_004183.4(BEST1):c.652C>T (p.Arg218Cys) SNV Pathogenic 99735 rs281865238 GRCh37: 11:61724874-61724874
GRCh38: 11:61957402-61957402
4 BEST1 NM_004183.4(BEST1):c.682G>A (p.Asp228Asn) SNV Pathogenic 2748 rs267606676 GRCh37: 11:61724904-61724904
GRCh38: 11:61957432-61957432
5 BEST1 NM_004183.4(BEST1):c.418C>G (p.Leu140Val) SNV Pathogenic 2750 rs267606678 GRCh37: 11:61723360-61723360
GRCh38: 11:61955888-61955888

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

72
# 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

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
12.76 SLC5A6 SLC39A1 SLC30A1 HEPH CYBRD1 BEST1
2 11.9 RUVBL2 RUVBL1 ACD
3
Show member pathways
11.11 SLC39A1 SLC30A1 HEPH
4 10.6 RUVBL2 RUVBL1
5 10.57 SLC30A1 HEPH CYBRD1

GO Terms for Retinitis Pigmentosa 50

Cellular components related to Retinitis Pigmentosa 50 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 basolateral plasma membrane GO:0016323 9.54 SLC5A6 HEPH BEST1
2 basal plasma membrane GO:0009925 9.4 SLC5A6 BEST1
3 MLL1 complex GO:0071339 9.32 RUVBL2 RUVBL1
4 NuA4 histone acetyltransferase complex GO:0035267 9.26 RUVBL2 RUVBL1
5 Ino80 complex GO:0031011 9.16 RUVBL2 RUVBL1
6 Swr1 complex GO:0000812 8.96 RUVBL2 RUVBL1
7 R2TP complex GO:0097255 8.62 RUVBL2 RUVBL1

Biological processes related to Retinitis Pigmentosa 50 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 histone acetylation GO:0016573 9.46 RUVBL2 RUVBL1
2 histone H4 acetylation GO:0043967 9.43 RUVBL2 RUVBL1
3 zinc ion transport GO:0006829 9.4 SLC39A1 SLC30A1
4 detection of light stimulus involved in visual perception GO:0050908 9.37 EYS BEST1
5 ion transport GO:0006811 9.35 SLC5A6 SLC39A1 SLC30A1 HEPH BEST1
6 zinc ion transmembrane transport GO:0071577 9.32 SLC39A1 SLC30A1
7 histone H2A acetylation GO:0043968 9.26 RUVBL2 RUVBL1
8 positive regulation of telomerase RNA localization to Cajal body GO:1904874 9.16 RUVBL2 RUVBL1
9 box C/D snoRNP assembly GO:0000492 8.62 RUVBL2 RUVBL1

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

# Name GO ID Score Top Affiliating Genes
1 ADP binding GO:0043531 9.32 RUVBL2 RUVBL1
2 TBP-class protein binding GO:0017025 9.26 RUVBL2 RUVBL1
3 zinc ion transmembrane transporter activity GO:0005385 9.16 SLC39A1 SLC30A1
4 TFIID-class transcription factor complex binding GO:0001094 8.96 RUVBL2 RUVBL1
5 5'-3' DNA helicase activity GO:0043139 8.62 RUVBL2 RUVBL1

Sources for Retinitis Pigmentosa 50

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....