RP50
MCID: RTN210
MIFTS: 30

Retinitis Pigmentosa 50 (RP50)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 50

MalaCards integrated aliases for Retinitis Pigmentosa 50:

Name: Retinitis Pigmentosa 50 58 12 76 30 6 15
Retinitis Pigmentosa, Concentric 58 30 13 6 74
Rp50 58 12 76
Retinitis Pigmentosa Concentric 76
Retinitis Pigmentosa, Type 50 41
Retinitis Pigmentosa-50 58

Characteristics:

HPO:

33
retinitis pigmentosa 50:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110396
OMIM 58 613194
MeSH 45 D012174
ICD10 34 H35.5
UMLS 74 C2750789

Summaries for Retinitis Pigmentosa 50

UniProtKB/Swiss-Prot : 76 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 bestrophinopathy and bestrophinopathy, autosomal recessive. An important gene associated with Retinitis Pigmentosa 50 is BEST1 (Bestrophin 1), and among its related pathways/superpathways is Amphetamine addiction. Affiliated tissues include eye and t cells, and related phenotypes are abnormal electroretinogram and reduced visual acuity

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 Retinitis Pigmentosa 83
Retinitis Pigmentosa 84 Retinitis Pigmentosa 85
Nonsyndromic Retinitis Pigmentosa

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

(show all 16)
# Related Disease Score Top Affiliating Genes
1 bestrophinopathy 10.2 BEST1 LOC107984334
2 bestrophinopathy, autosomal recessive 10.2 BEST1 LOC107984334
3 vitreoretinochoroidopathy 10.1 BEST1 LOC107984334
4 peripheral retinal degeneration 10.1 BEST1 RPGR
5 retinal degeneration 10.1 BEST1 RPGR
6 retinitis pigmentosa 10.1
7 leber congenital amaurosis 4 10.1
8 retinitis pigmentosa 72 10.0 CD7 RPGR
9 cone dystrophy 10.0 BEST1 RPGR
10 retinitis pigmentosa 26 9.9 CD7 RPGR
11 retinal disease 9.9 BEST1 RPGR
12 retinitis 9.9
13 cone-rod dystrophy, x-linked, 2 9.8 ERVW-1 RPGR
14 fundus dystrophy 9.8 BEST1 RPGR
15 t-cell adult acute lymphocytic leukemia 9.8 CD7 ERVW-1
16 t-cell leukemia 9.4 CD7 ERVW-1 RELA

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:

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 abnormal electroretinogram 33 HP:0000512
2 reduced visual acuity 33 HP:0007663
3 nyctalopia 33 HP:0000662
4 retinal detachment 33 HP:0000541
5 rod-cone dystrophy 33 HP:0000510
6 optic disc pallor 33 HP:0000543
7 attenuation of retinal blood vessels 33 HP:0007843
8 retinal flecks 33 HP:0012045

Clinical features from OMIM:

613194

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

27
# 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 30 BEST1
2 Retinitis Pigmentosa, Concentric 30

Anatomical Context for Retinitis Pigmentosa 50

MalaCards organs/tissues related to Retinitis Pigmentosa 50:

42
Eye, T Cells

Publications for Retinitis Pigmentosa 50

Articles related to Retinitis Pigmentosa 50:

# Title Authors Year
1
Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). ( 22234150 )
2012
2
Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa. ( 19853238 )
2009
3
Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease). ( 9700209 )
1998

Variations for Retinitis Pigmentosa 50

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

76
# 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.614T> C (p.Ile205Thr) single nucleotide variant Pathogenic rs267606680 GRCh38 Chromosome 11, 61956976: 61956976
3 BEST1 NM_004183.3(BEST1): c.682G> A (p.Asp228Asn) single nucleotide variant Likely pathogenic rs267606676 GRCh37 Chromosome 11, 61724904: 61724904
4 BEST1 NM_004183.3(BEST1): c.682G> A (p.Asp228Asn) single nucleotide variant Likely pathogenic rs267606676 GRCh38 Chromosome 11, 61957432: 61957432
5 BEST1 NM_004183.3(BEST1): c.680A> G (p.Tyr227Cys) single nucleotide variant Likely pathogenic rs267606677 GRCh37 Chromosome 11, 61724902: 61724902
6 BEST1 NM_004183.3(BEST1): c.680A> G (p.Tyr227Cys) single nucleotide variant Likely pathogenic rs267606677 GRCh38 Chromosome 11, 61957430: 61957430
7 BEST1 NM_004183.3(BEST1): c.418C> G (p.Leu140Val) single nucleotide variant Uncertain significance rs267606678 GRCh37 Chromosome 11, 61723360: 61723360
8 BEST1 NM_004183.3(BEST1): c.418C> G (p.Leu140Val) single nucleotide variant Uncertain significance rs267606678 GRCh38 Chromosome 11, 61955888: 61955888
9 BEST1 NM_004183.3(BEST1): c.652C> T (p.Arg218Cys) single nucleotide variant Pathogenic/Likely pathogenic rs281865238 GRCh37 Chromosome 11, 61724874: 61724874
10 BEST1 NM_004183.3(BEST1): c.652C> T (p.Arg218Cys) single nucleotide variant Pathogenic/Likely pathogenic rs281865238 GRCh38 Chromosome 11, 61957402: 61957402

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
10.69 MAOA RELA

GO Terms for Retinitis Pigmentosa 50

Sources for Retinitis Pigmentosa 50

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
Content
Loading form....