RP47
MCID: RTN143
MIFTS: 41

Retinitis Pigmentosa 47 (RP47)

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

Aliases & Classifications for Retinitis Pigmentosa 47

MalaCards integrated aliases for Retinitis Pigmentosa 47:

Name: Retinitis Pigmentosa 47 57 12 73 29 13 6 15 71
Rp47 57 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® 57 613758
OMIM Phenotypic Series 57 PS268000
MeSH 44 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 suppurative lymphadenitis and granulomatous disease, chronic, autosomal recessive, 4. 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 PAK 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
Retinitis Pigmentosa 86 Retinitis Pigmentosa 88
Retinitis Pigmentosa 89 Retinitis Pigmentosa 90
Nonsyndromic Retinitis Pigmentosa

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

(show top 50) (show all 127)
# Related Disease Score Top Affiliating Genes
1 suppurative lymphadenitis 10.3 NCF2 NCF1
2 granulomatous disease, chronic, autosomal recessive, 4 10.2 NOX1 NCF2 NCF1
3 bartholin's gland adenoma 10.2 PGR ESR1
4 bartholin's gland adenoid cystic carcinoma 10.2 PGR ESR1
5 uterine corpus adenosarcoma 10.2 PGR ESR1
6 bartholin's gland benign neoplasm 10.2 PGR ESR1
7 chronic tympanitis 10.2 PGR ESR1
8 vestibular gland benign neoplasm 10.2 PGR ESR1
9 granulomatous endometritis 10.2 PGR ESR1
10 vulvar syringoma 10.2 PGR ESR1
11 lung leiomyoma 10.2 PGR ESR1
12 adult type testicular granulosa cell tumor 10.2 PGR ESR1
13 cervical clear cell adenocarcinoma 10.2 PGR ESR1
14 ovarian seromucinous carcinoma 10.2 PGR ESR1
15 scirrhous adenocarcinoma 10.2 PGR ERBB2
16 lipid-rich breast carcinoma 10.1 PGR ERBB2
17 liver leiomyoma 10.1 PGR ESR1
18 intravenous leiomyomatosis 10.1 PGR ESR1
19 apocrine adenosis of breast 10.1 PGR ERBB2
20 intracranial meningioma 10.1 PGR ESR1
21 luminal breast carcinoma b 10.1 PGR ERBB2
22 vulvar leiomyoma 10.1 PGR ESR1
23 granulomatous disease, chronic, x-linked 10.1 NOX1 NCF2 NCF1 MT-CYB
24 bizarre leiomyoma 10.1 PGR ESR1
25 breast adenoma 10.1 PGR ESR1
26 breast mucinous carcinoma 10.1 PGR ERBB2
27 gastric diffuse adenocarcinoma 10.1 PGR ERBB2
28 endometrial stromal tumor 10.1 PGR MT-CYB ESR1
29 prostate stromal sarcoma 10.1 PGR ESR1
30 breast squamous cell carcinoma 10.1 ESR1 ERBB2
31 linitis plastica 10.1 PGR ERBB2
32 breast sarcoma 10.0 PGR ERBB2
33 lung abscess 10.0 NCF2 NCF1
34 triple-receptor negative breast cancer 10.0 PGR ERBB2
35 breast juvenile papillomatosis 10.0 ERBB2 AKT1
36 urethral benign neoplasm 10.0 PGR ESR1
37 phagocyte bactericidal dysfunction 10.0 RAC2 NOX1 NCF2 NCF1 MT-CYB
38 cervical adenosarcoma 10.0 PGR ESR1
39 glassy cell carcinoma of the cervix 10.0 PGR ESR1 ERBB2
40 breast intraductal papillomatosis 10.0 PGR ESR1 ERBB2
41 alzheimer disease 15 10.0 LMNA GOLPH3
42 intraductal papilloma 10.0 PGR ESR1 ERBB2
43 nipple carcinoma 9.9 PGR ESR1 ERBB2
44 breast scirrhous carcinoma 9.9 PGR ESR1 ERBB2
45 oncocytic breast carcinoma 9.9 PGR ESR1 ERBB2
46 breast papillary carcinoma 9.9 PGR ESR1 ERBB2
47 papillary carcinoma 9.9 PGR ESR1 ERBB2
48 comedo carcinoma 9.9 PGR ESR1 ERBB2
49 breast adenoid cystic carcinoma 9.9 PGR ESR1 ERBB2
50 breast metaplastic carcinoma 9.9 PGR ESR1 ERBB2

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 visual impairment 31 HP:0000505
2 nyctalopia 31 HP:0000662
3 rod-cone dystrophy 31 HP:0000510
4 pigmentary retinopathy 31 HP:0000580
5 chorioretinal atrophy 31 HP:0000533
6 decreased light- and dark-adapted electroretinogram amplitude 31 HP:0000654

Clinical features from OMIM®:

613758 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Retinitis Pigmentosa 47:

46 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.34 ABR ADCY10 AKT1 ERBB2 ESR1 LMNA
2 homeostasis/metabolism MP:0005376 10.3 ADCY10 AKT1 ERBB2 ESR1 LMNA NCF1
3 cardiovascular system MP:0005385 10.25 ADCY10 AKT1 ERBB2 ESR1 LMNA NCF1
4 immune system MP:0005387 10.21 AKT1 ESR1 GOLPH3 LMNA NCF1 NCF2
5 endocrine/exocrine gland MP:0005379 10.18 AKT1 ERBB2 ESR1 GOLPH3 LMNA NCF1
6 mortality/aging MP:0010768 10.13 ABR AKT1 ERBB2 ESR1 GOLPH3 LMNA
7 integument MP:0010771 10.06 AKT1 ERBB2 ESR1 GOLPH3 LMNA NCF1
8 limbs/digits/tail MP:0005371 9.91 ERBB2 ESR1 GOLPH3 LMNA PGR PSEN2
9 muscle MP:0005369 9.86 AKT1 ERBB2 ESR1 LMNA NCF1 NOX1
10 normal MP:0002873 9.76 ABR AKT1 CDR2 ERBB2 ESR1 LMNA
11 reproductive system MP:0005389 9.61 ADCY10 AKT1 ERBB2 ESR1 GOLPH3 LMNA
12 respiratory system MP:0005388 9.17 AKT1 ERBB2 ESR1 LMNA NCF1 NCF2

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. 6 57
9565049 1998
2
Novel mutations in the arrestin gene and associated clinical features in Japanese patients with Oguchi's disease. 6
15234147 2004
3
A homozygous 1-base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese. 6
7670478 1995
4
Superoxide generation by Nox1 in guinea pig gastric mucosal cells involves a component with p67(phox)-ability. 61
14758023 2004
5
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
2 SAG NM_000541.5(SAG):c.944+5G>A SNV Uncertain significance 811941 rs374048703 2:234243750-234243750 2:233335104-233335104

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 28)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.8 SCAI SAG RAC2 RAC1 PSEN2 PGR
2
Show member pathways
13.16 RAC2 RAC1 NOX1 NCF2 NCF1 ERBB2
3
Show member pathways
12.77 SCAI RAC2 RAC1 NOX1 NCF2 NCF1
4 12.73 RAC2 RAC1 ESR1 ERBB2 AKT1
5
Show member pathways
12.72 RAC2 RAC1 NCF2 NCF1 MT-CYB
6
Show member pathways
12.59 RAC1 PSEN2 ESR1 ERBB2 AKT1
7
Show member pathways
12.51 RAC2 RAC1 NCF2 NCF1 AKT1
8 12.43 SCAI RAC2 RAC1 LMNA
9
Show member pathways
12.38 RAC1 ESR1 ERBB2 AKT1
10 12.23 RAC2 RAC1 AKT1 ADCY10
11
Show member pathways
12.21 RAC2 RAC1 NOX1 NCF2 NCF1 ERBB2
12
Show member pathways
12.2 RAC1 ESR1 ERBB2 AKT1
13 12.18 RAC1 ESR1 ERBB2 AKT1
14
Show member pathways
12.06 RAC2 RAC1 NCF2 NCF1 AKT1
15 11.95 RAC1 NCF2 NCF1 AKT1
16 11.92 RAC2 NCF2 NCF1 ABR
17 11.84 RAC2 RAC1 ERBB2 AKT1
18 11.81 RAC1 NOX1 AKT1
19
Show member pathways
11.79 PSEN2 PGR ESR1 ERBB2
20 11.78 RAC1 ESR1 AKT1
21
Show member pathways
11.76 RAC2 NCF2 NCF1
22 11.69 RAC2 RAC1 NCF1 AKT1
23 11.66 RAC1 NOX1 NCF2 NCF1 AKT1
24 11.63 RAC2 RAC1 ERBB2
25 11.58 RAC1 NCF1 AKT1
26 11.58 RAC2 RAC1 NOX1 NCF2 NCF1 AKT1
27 11.47 RAC2 RAC1 ERBB2
28 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 cytosol GO:0005829 10.07 SAG RAC2 RAC1 PGR NCF2 NCF1
2 membrane GO:0016020 9.86 SCAI SAG RAC2 RAC1 PSEN2 PGR
3 phagolysosome GO:0032010 9.16 NCF2 NCF1
4 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 16)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.13 SAG RAC2 PGR NOX1 ESR1 ERBB2
2 regulation of cell migration GO:0030334 9.72 RAC1 LMNA AKT1
3 positive regulation of protein kinase B signaling GO:0051897 9.71 RAC2 RAC1 ESR1 ERBB2
4 vascular endothelial growth factor receptor signaling pathway GO:0048010 9.65 RAC1 NCF2 NCF1
5 cell redox homeostasis GO:0045454 9.63 RAC2 NCF2 NCF1
6 intracellular signal transduction GO:0035556 9.63 RAC1 PSEN2 ERBB2 AKT1 ADCY10 ABR
7 engulfment of apoptotic cell GO:0043652 9.56 RAC2 RAC1
8 sphingosine-1-phosphate receptor signaling pathway GO:0003376 9.54 RAC1 AKT1
9 positive regulation of fibroblast migration GO:0010763 9.51 MIR145 AKT1
10 intracellular steroid hormone receptor signaling pathway GO:0030518 9.49 PGR ESR1
11 regulation of hydrogen peroxide metabolic process GO:0010310 9.43 RAC2 RAC1
12 motor neuron axon guidance GO:0008045 9.43 RAC2 RAC1 ERBB2
13 regulation of neutrophil migration GO:1902622 9.37 RAC2 RAC1
14 regulation of respiratory burst GO:0060263 9.32 RAC2 RAC1
15 superoxide anion generation GO:0042554 9.13 NOX1 NCF2 NCF1
16 respiratory burst GO:0045730 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 enzyme binding GO:0019899 9.55 RAC1 PGR GOLPH3 ESR1 AKT1
2 electron transfer activity GO:0009055 9.54 NCF2 NCF1 MT-CYB
3 superoxide-generating NADPH oxidase activator activity GO:0016176 9.32 NCF2 NCF1
4 nitric-oxide synthase regulator activity GO:0030235 9.26 ESR1 AKT1
5 ATPase binding GO:0051117 9.26 RAC1 PGR ESR1 ADCY10
6 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
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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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