MCID: RTN210
MIFTS: 32

Retinitis Pigmentosa 50

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 50

MalaCards integrated aliases for Retinitis Pigmentosa 50:

Name: Retinitis Pigmentosa 50 57 12 75 29 6 15
Retinitis Pigmentosa, Concentric 57 29 13 6 73
Rp50 57 12 75
Retinitis Pigmentosa Concentric 75
Retinitis Pigmentosa, Type 50 40
Retinitis Pigmentosa-50 57

Characteristics:

HPO:

32
retinitis pigmentosa 50:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 613194
Disease Ontology 12 DOID:0110396
ICD10 33 H35.5
MeSH 44 D012174
UMLS 73 C2750789

Summaries for Retinitis Pigmentosa 50

UniProtKB/Swiss-Prot : 75 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, autosomal recessive and vitreoretinochoroidopathy. An important gene associated with Retinitis Pigmentosa 50 is BEST1 (Bestrophin 1), and among its related pathways/superpathways are NF-kappa B signaling pathway and Corticotropin-releasing hormone signaling pathway. Affiliated tissues include eye, 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 Nonsyndromic Retinitis Pigmentosa

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

(show all 11)
# Related Disease Score Top Affiliating Genes
1 bestrophinopathy, autosomal recessive 10.3 BEST1 LOC107984334
2 vitreoretinochoroidopathy 10.3 BEST1 LOC107984334
3 peripheral retinal degeneration 10.2 BEST1 RPGR
4 bestrophinopathy 10.2 BEST1 LOC107984334
5 retinitis pigmentosa 72 10.0 CD7 RPGR
6 cone dystrophy 9.9 BEST1 RPGR
7 retinitis pigmentosa 26 9.8 CD7 RPGR
8 retinitis pigmentosa 9.8
9 leber congenital amaurosis 4 9.8
10 retinitis 9.8
11 retinal disease 9.7 BEST1 RPGR

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:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 abnormal electroretinogram 32 HP:0000512
2 reduced visual acuity 32 HP:0007663
3 nyctalopia 32 HP:0000662
4 retinal detachment 32 HP:0000541
5 rod-cone dystrophy 32 HP:0000510
6 optic disc pallor 32 HP:0000543
7 attenuation of retinal blood vessels 32 HP:0007843
8 retinal flecks 32 HP:0012045

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

26
# 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 29 BEST1
2 Retinitis Pigmentosa, Concentric 29

Anatomical Context for Retinitis Pigmentosa 50

MalaCards organs/tissues related to Retinitis Pigmentosa 50:

41
Eye

Publications for Retinitis Pigmentosa 50

Variations for Retinitis Pigmentosa 50

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

75
# 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

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 10.93 PARP1 RELA
2 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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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