RP47
MCID: RTN143
MIFTS: 26

Retinitis Pigmentosa 47 (RP47)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 47

MalaCards integrated aliases for Retinitis Pigmentosa 47:

Name: Retinitis Pigmentosa 47 56 12 73 29 13 6 15 71
Rp47 56 12 73
Retinitis Pigmentosa, Type 47 39

Characteristics:

HPO:

31
retinitis pigmentosa 47:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110369
OMIM 56 613758
OMIM Phenotypic Series 56 PS268000
MeSH 43 D012174
ICD10 32 H35.5
MedGen 41 C3151061
UMLS 71 C3151061

Summaries for Retinitis Pigmentosa 47

UniProtKB/Swiss-Prot : 73 Retinitis pigmentosa 47: 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 47, also known as rp47, is related to paraneoplastic cerebellar degeneration and cerebellar degeneration. An important gene associated with Retinitis Pigmentosa 47 is SAG (S-Antigen Visual Arrestin). Affiliated tissues include eye and retina, and related phenotypes are rod-cone dystrophy and nyctalopia

Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation in the SAG gene on chromosome 2q37.

More information from OMIM: 613758 PS268000

Related Diseases for Retinitis Pigmentosa 47

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 Nonsyndromic Retinitis Pigmentosa

Diseases related to Retinitis Pigmentosa 47 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 paraneoplastic cerebellar degeneration 9.6 CDR2 CDR1
2 cerebellar degeneration 9.6 CDR2 CDR1
3 acute diffuse nephritis 9.6 CDR2 CDR1
4 anosognosia 9.6 CDR2 CDR1
5 denture stomatitis 9.6 CDR2 CDR1
6 schuurs-hoeijmakers syndrome 9.5 CDR2 CDR1
7 cone-rod dystrophy 1 9.5 CDR2 CDR1
8 retinitis pigmentosa 57 9.3 SNN CDR2 CDR1
9 autosomal dominant non-syndromic intellectual disability 9.2 CDR2 CDR1
10 cone-rod dystrophy 2 9.1 SAG CDR2 CDR1

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 47:



Diseases related to Retinitis Pigmentosa 47

Symptoms & Phenotypes for Retinitis Pigmentosa 47

Human phenotypes related to Retinitis Pigmentosa 47:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 31 HP:0000510
2 nyctalopia 31 HP:0000662
3 visual impairment 31 HP:0000505
4 chorioretinal atrophy 31 HP:0000533
5 pigmentary retinopathy 31 HP:0000580
6 decreased light- and dark-adapted electroretinogram amplitude 31 HP:0000654

Clinical features from OMIM:

613758

Drugs & Therapeutics for Retinitis Pigmentosa 47

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 47

Genetic Tests for Retinitis Pigmentosa 47

Genetic tests related to Retinitis Pigmentosa 47:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 47 29 SAG

Anatomical Context for Retinitis Pigmentosa 47

MalaCards organs/tissues related to Retinitis Pigmentosa 47:

40
Eye, Retina

Publications for Retinitis Pigmentosa 47

Articles related to Retinitis Pigmentosa 47:

# Title Authors PMID Year
1
Arrestin gene mutations in autosomal recessive retinitis pigmentosa. 56 6
9565049 1998
2
In Vivo CRISPR/Cas9 Gene Editing Corrects Retinal Dystrophy in the S334ter-3 Rat Model of Autosomal Dominant Retinitis Pigmentosa. 6
26666451 2016
3
Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). 6
22234150 2012
4
Novel mutations in the arrestin gene and associated clinical features in Japanese patients with Oguchi's disease. 6
15234147 2004
5
Nonsyndromic Retinitis Pigmentosa Overview 6
20301590 2000
6
A homozygous 1-base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese. 6
7670478 1995
7
Superoxide generation by Nox1 in guinea pig gastric mucosal cells involves a component with p67(phox)-ability. 61
14758023 2004
8
p21rac does not participate in the early interaction between p47-phox and cytochrome b558 that leads to phagocyte NADPH oxidase activation in vitro. 61
8117710 1994

Variations for Retinitis Pigmentosa 47

ClinVar genetic disease variations for Retinitis Pigmentosa 47:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SAG NM_000541.5(SAG):c.926del (p.Asn309fs)deletion Pathogenic 12951 rs587776778 2:234243725-234243725 2:233335079-233335079

Expression for Retinitis Pigmentosa 47

Search GEO for disease gene expression data for Retinitis Pigmentosa 47.

Pathways for Retinitis Pigmentosa 47

GO Terms for Retinitis Pigmentosa 47

Sources for Retinitis Pigmentosa 47

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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