RP47
MCID: RTN143
MIFTS: 39

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 57 12 74 29 13 6 15 72
Rp47 57 12 74
Retinitis Pigmentosa, Type 47 40

Characteristics:

HPO:

32
retinitis pigmentosa 47:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110369
MeSH 44 D012174
ICD10 33 H35.5
MedGen 42 C3151061
UMLS 72 C3151061

Summaries for Retinitis Pigmentosa 47

UniProtKB/Swiss-Prot : 74 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 neutrophil migration and granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type ii. An important gene associated with Retinitis Pigmentosa 47 is SAG (S-Antigen Visual Arrestin), and among its related pathways/superpathways are Signaling by GPCR and Integrin Pathway. Affiliated tissues include eye and retina, and related phenotypes are visual impairment 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
Nonsyndromic Retinitis Pigmentosa

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

(show top 50) (show all 71)
# Related Disease Score Top Affiliating Genes
1 neutrophil migration 10.1 RAC2 RAC1
2 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type ii 10.1 NCF2 NCF1
3 cellulitis 10.0 NCF2 NCF1
4 bartholin's gland adenoma 9.9 PGR ESR1
5 vestibular gland benign neoplasm 9.9 PGR ESR1
6 lung leiomyoma 9.9 PGR ESR1
7 vulvar syringoma 9.9 PGR ESR1
8 glassy cell carcinoma of the cervix 9.9 PGR ESR1
9 vulvar leiomyoma 9.9 PGR ESR1
10 trigonitis 9.9 PGR ESR1
11 vulvar benign neoplasm 9.9 PGR ESR1
12 predominantly cortical thymoma 9.9 PGR ESR1
13 breast scirrhous carcinoma 9.9 PGR ESR1
14 breast medullary carcinoma 9.9 PGR ESR1
15 oncocytic breast carcinoma 9.9 PGR ESR1
16 bartholin's gland benign neoplasm 9.9 PGR ESR1
17 progesterone-receptor positive breast cancer 9.9 PGR ESR1
18 cribriform carcinoma 9.9 PGR ESR1
19 endometrial squamous cell carcinoma 9.9 PGR ESR1
20 progesterone resistance 9.9 PGR ESR1
21 apocrine adenocarcinoma 9.9 PGR ESR1
22 adenoid basal cell carcinoma 9.9 PGR ESR1
23 endometrial mucinous adenocarcinoma 9.9 PGR ESR1
24 synchronous bilateral breast carcinoma 9.9 PGR ESR1
25 diffuse peritoneal leiomyomatosis 9.9 PGR ESR1
26 leiomyomatosis 9.9 PGR ESR1
27 deep angioma 9.9 PGR ESR1
28 gender identity disorder 9.9 PGR ESR1
29 peritoneal benign neoplasm 9.9 PGR ESR1
30 breast adenoid cystic carcinoma 9.9 PGR ESR1
31 cervical carcinosarcoma 9.9 PGR ESR1
32 female reproductive endometrioid cancer 9.9 PGR ESR1
33 glycogen-rich clear cell breast carcinoma 9.9 PGR ESR1
34 intramuscular hemangioma 9.9 PGR ESR1
35 estrogen excess 9.9 PGR ESR1
36 cervical clear cell adenocarcinoma 9.9 PGR ESR1
37 mammographic density 9.9 PGR ESR1
38 inflammatory breast carcinoma 9.9 PGR ESR1
39 adenosarcoma 9.9 PGR ESR1
40 retinitis pigmentosa 20 9.9 PGR ESR1
41 endometriosis of ovary 9.8 PGR ESR1
42 luminal breast carcinoma 9.8 PGR ESR1
43 uterine corpus cancer 9.8 PGR ESR1
44 thoracic benign neoplasm 9.8 PGR ESR1
45 breast benign neoplasm 9.8 PGR ESR1
46 lipid-rich carcinoma 9.8 PGR ESR1
47 smooth muscle tumor 9.8 PGR ESR1
48 uterine benign neoplasm 9.8 PGR ESR1
49 mammary paget's disease 9.8 PGR ESR1
50 prostatic hypertrophy 9.8 PGR ESR1

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:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 visual impairment 32 HP:0000505
2 nyctalopia 32 HP:0000662
3 rod-cone dystrophy 32 HP:0000510
4 chorioretinal atrophy 32 HP:0000533
5 pigmentary retinopathy 32 HP:0000580
6 decreased light- and dark-adapted electroretinogram amplitude 32 HP:0000654

Clinical features from OMIM:

613758

MGI Mouse Phenotypes related to Retinitis Pigmentosa 47:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.8 ESR1 NCF1 NOX1 PGR RAC1 RAC2
2 cellular MP:0005384 9.8 ESR1 NCF1 NCF2 NOX1 PGR RAC1
3 homeostasis/metabolism MP:0005376 9.76 ESR1 NCF1 NCF2 NOX1 PGR RAC1
4 immune system MP:0005387 9.5 ESR1 NCF1 NCF2 NOX1 PGR RAC1
5 muscle MP:0005369 9.02 ESR1 NCF1 NOX1 PGR RAC1

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:

41
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. 8 71
9565049 1998
2
In Vivo CRISPR/Cas9 Gene Editing Corrects Retinal Dystrophy in the S334ter-3 Rat Model of Autosomal Dominant Retinitis Pigmentosa. 71
26666451 2016
3
Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). 71
22234150 2012
4
Novel mutations in the arrestin gene and associated clinical features in Japanese patients with Oguchi's disease. 71
15234147 2004
5
Nonsyndromic Retinitis Pigmentosa Overview 71
20301590 2000
6
A homozygous 1-base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese. 71
7670478 1995
7
Superoxide generation by Nox1 in guinea pig gastric mucosal cells involves a component with p67(phox)-ability. 38
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. 38
8117710 1994

Variations for Retinitis Pigmentosa 47

ClinVar genetic disease variations for Retinitis Pigmentosa 47:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SAG NM_000541.5(SAG): c.926del (p.Asn309fs) deletion Pathogenic rs587776778 2:234243727-234243727 2:233335081-233335081

Expression for Retinitis Pigmentosa 47

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

Pathways for Retinitis Pigmentosa 47

Pathways related to Retinitis Pigmentosa 47 according to GeneCards Suite gene sharing:

(show all 20)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.79 SAG RAC2 RAC1 PGR NOX1 NCF2
2
Show member pathways
13.11 RAC2 RAC1 NOX1 NCF2 NCF1
3
Show member pathways
13.02 RAC2 RAC1 NOX1 NCF2 NCF1
4
Show member pathways
12.66 RAC2 RAC1 NOX1 NCF2 NCF1
5
Show member pathways
12.36 RAC2 RAC1 NCF2 NCF1
6
Show member pathways
12.21 RAC1 NCF2 NCF1
7
Show member pathways
12.01 RAC2 RAC1 NCF2 NCF1
8
Show member pathways
11.95 RAC2 RAC1 NOX1 NCF2 NCF1
9 11.91 RAC1 NCF2 NCF1
10 11.84 RAC1 NCF2 NCF1
11
Show member pathways
11.82 RAC2 RAC1 NOX1 NCF2 NCF1
12 11.8 RAC2 NCF2 NCF1
13
Show member pathways
11.6 RAC2 NCF2 NCF1
14 11.58 RAC2 RAC1 NCF1
15 11.56 RAC1 NOX1 NCF2 NCF1
16 11.5 RAC2 RAC1 NOX1 NCF2 NCF1
17 11.28 RAC2 RAC1
18 11.08 RAC2 NCF2 NCF1
19
Show member pathways
11.03 RAC2 RAC1
20 10.14 RAC2 RAC1 NOX1 NCF2 NCF1

GO Terms for Retinitis Pigmentosa 47

Cellular components related to Retinitis Pigmentosa 47 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phagolysosome GO:0032010 8.96 NCF2 NCF1
2 NADPH oxidase complex GO:0043020 8.8 NOX1 NCF2 NCF1

Biological processes related to Retinitis Pigmentosa 47 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.81 NOX1 NCF2 NCF1 MT-CYB
2 steroid hormone mediated signaling pathway GO:0043401 9.52 PGR ESR1
3 positive regulation of neutrophil chemotaxis GO:0090023 9.49 RAC2 RAC1
4 bone resorption GO:0045453 9.48 RAC2 RAC1
5 superoxide metabolic process GO:0006801 9.46 NCF2 NCF1
6 Rac protein signal transduction GO:0016601 9.43 RAC2 RAC1
7 vascular endothelial growth factor receptor signaling pathway GO:0048010 9.43 RAC1 NCF2 NCF1
8 positive regulation of lamellipodium assembly GO:0010592 9.4 RAC2 RAC1
9 cell projection assembly GO:0030031 9.37 RAC2 RAC1
10 regulation of hydrogen peroxide metabolic process GO:0010310 9.32 RAC2 RAC1
11 regulation of respiratory burst GO:0060263 9.16 RAC2 RAC1
12 respiratory burst GO:0045730 9.13 NOX1 NCF2 NCF1
13 superoxide anion generation GO:0042554 8.8 NOX1 NCF2 NCF1

Molecular functions related to Retinitis Pigmentosa 47 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lipid binding GO:0008289 9.58 PGR NCF1 ESR1
2 steroid hormone receptor activity GO:0003707 9.43 PGR ESR1
3 nuclear receptor activity GO:0004879 9.37 PGR ESR1
4 electron transfer activity GO:0009055 9.33 NCF2 NCF1 MT-CYB
5 steroid binding GO:0005496 9.32 PGR ESR1
6 superoxide-generating NADPH oxidase activator activity GO:0016176 9.26 NCF2 NCF1
7 ATPase binding GO:0051117 9.13 RAC1 PGR ESR1
8 superoxide-generating NADPH oxidase activity GO:0016175 8.8 NOX1 NCF2 NCF1

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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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