MCID: RTN143
MIFTS: 40

Retinitis Pigmentosa 47

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 47

MalaCards integrated aliases for Retinitis Pigmentosa 47:

Name: Retinitis Pigmentosa 47 57 12 75 29 13 6 15 73
Rp47 57 12 75
Retinitis Pigmentosa, Type 47 40

Characteristics:

HPO:

32
retinitis pigmentosa 47:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 613758
Disease Ontology 12 DOID:0110369
ICD10 33 H35.5
MedGen 42 C3151061
MeSH 44 D012174
UMLS 73 C3151061

Summaries for Retinitis Pigmentosa 47

UniProtKB/Swiss-Prot : 75 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 phagocyte bactericidal dysfunction and vulvar syringoma. 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 related phenotypes are visual impairment and rod-cone dystrophy

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

Description from OMIM: 613758

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 Nonsyndromic Retinitis Pigmentosa

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

(show top 50) (show all 70)
# Related Disease Score Top Affiliating Genes
1 phagocyte bactericidal dysfunction 9.9 MT-CYB NCF1 NCF2
2 vulvar syringoma 9.8 ESR1 PGR
3 lung leiomyoma 9.8 ESR1 PGR
4 vestibular gland benign neoplasm 9.8 ESR1 PGR
5 bartholin's gland adenoma 9.8 ESR1 PGR
6 glassy cell carcinoma of the cervix 9.8 ESR1 PGR
7 neutrophil migration 9.8 RAC1 RAC2
8 vulvar benign neoplasm 9.8 ESR1 PGR
9 trigonitis 9.8 ESR1 PGR
10 vulvar leiomyoma 9.8 ESR1 PGR
11 predominantly cortical thymoma 9.8 ESR1 PGR
12 breast medullary carcinoma 9.8 ESR1 PGR
13 breast scirrhous carcinoma 9.8 ESR1 PGR
14 progesterone resistance 9.8 ESR1 PGR
15 progesterone-receptor positive breast cancer 9.8 ESR1 PGR
16 cribriform carcinoma 9.8 ESR1 PGR
17 oncocytic breast carcinoma 9.8 ESR1 PGR
18 endometrial squamous cell carcinoma 9.8 ESR1 PGR
19 gastric signet ring cell adenocarcinoma 9.8 ESR1 PGR
20 endometrial mucinous adenocarcinoma 9.8 ESR1 PGR
21 adenoid basal cell carcinoma 9.8 ESR1 PGR
22 apocrine adenocarcinoma 9.8 ESR1 PGR
23 gender identity disorder 9.8 ESR1 PGR
24 bartholin's gland benign neoplasm 9.8 ESR1 PGR
25 deep angioma 9.8 ESR1 PGR
26 synchronous bilateral breast carcinoma 9.8 ESR1 PGR
27 breast adenoid cystic carcinoma 9.7 ESR1 PGR
28 cervical carcinosarcoma 9.7 ESR1 PGR
29 estrogen excess 9.7 ESR1 PGR
30 intramuscular hemangioma 9.7 ESR1 PGR
31 glycogen-rich clear cell breast carcinoma 9.7 ESR1 PGR
32 mammographic density 9.7 ESR1 PGR
33 uterine corpus cancer 9.7 ESR1 PGR
34 adenomyosis 9.7 ESR1 PGR
35 retinitis pigmentosa 20 9.7 ESR1 PGR
36 luminal breast carcinoma 9.7 ESR1 PGR
37 adenosarcoma 9.7 ESR1 PGR
38 cervical clear cell adenocarcinoma 9.7 ESR1 PGR
39 breast benign neoplasm 9.7 ESR1 PGR
40 thoracic benign neoplasm 9.7 ESR1 PGR
41 endometriosis of ovary 9.7 ESR1 PGR
42 inflammatory breast carcinoma 9.7 ESR1 PGR
43 mixed cell type cancer 9.7 ESR1 PGR
44 lipid-rich carcinoma 9.7 ESR1 PGR
45 uterine benign neoplasm 9.7 ESR1 PGR
46 reproductive organ benign neoplasm 9.7 ESR1 PGR
47 smooth muscle tumor 9.7 ESR1 PGR
48 pancreatic mucinous cystadenoma 9.7 ESR1 PGR
49 endometritis 9.6 ESR1 PGR
50 prostatic hypertrophy 9.6 ESR1 PGR

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



Diseases related to Retinitis Pigmentosa 47

Symptoms & Phenotypes for Retinitis Pigmentosa 47

Clinical features from OMIM:

613758

Human phenotypes related to Retinitis Pigmentosa 47:

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

MGI Mouse Phenotypes related to Retinitis Pigmentosa 47:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.56 DECR1 ESR1 NCF1 NOX1 PGR RAC1
2 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

Publications for Retinitis Pigmentosa 47

Variations for Retinitis Pigmentosa 47

ClinVar genetic disease variations for Retinitis Pigmentosa 47:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SAG NM_000541.4(SAG): c.926delA (p.Asn309Thrfs) deletion Pathogenic rs587776778 GRCh37 Chromosome 2, 234243727: 234243727
2 SAG NM_000541.4(SAG): c.926delA (p.Asn309Thrfs) deletion Pathogenic rs587776778 GRCh38 Chromosome 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 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.85 ESR1 NCF1 NCF2 NOX1 PGR RAC1
2
Show member pathways
13.09 NCF1 NCF2 NOX1 RAC1 RAC2
3
Show member pathways
12.99 NCF1 NCF2 NOX1 RAC1 RAC2
4
Show member pathways
12.63 NCF1 NCF2 NOX1 RAC1 RAC2
5
Show member pathways
12.34 NCF1 NCF2 RAC1 RAC2
6
Show member pathways
12.19 NCF1 NCF2 RAC1
7
Show member pathways
11.97 NCF1 NCF2 RAC1 RAC2
8 11.87 NCF1 NCF2 RAC1
9
Show member pathways
11.85 NCF1 NCF2 NOX1 RAC1
10 11.81 NCF1 NCF2 RAC1
11
Show member pathways
11.57 NCF1 NCF2 RAC2
12 11.56 NCF1 NCF2 NOX1 RAC1
13 11.54 NCF1 RAC1 RAC2
14 11.5 NCF1 NCF2 NOX1 RAC1 RAC2
15 11.05 NCF1 NCF2 RAC2
16
Show member pathways
11 RAC1 RAC2
17 10.14 NCF1 NCF2 NOX1 RAC1 RAC2

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 9.76 DECR1 ESR1 NCF1 NCF2 PGR RAC1
2 phagolysosome GO:0032010 8.96 NCF1 NCF2
3 NADPH oxidase complex GO:0043020 8.8 NCF1 NCF2 NOX1

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.77 DECR1 MT-CYB NCF1 NCF2 NOX1
2 cell migration GO:0016477 9.71 NOX1 RAC1 RAC2
3 positive regulation of neutrophil chemotaxis GO:0090023 9.52 RAC1 RAC2
4 cell projection assembly GO:0030031 9.51 RAC1 RAC2
5 vascular endothelial growth factor receptor signaling pathway GO:0048010 9.5 NCF1 NCF2 RAC1
6 Rac protein signal transduction GO:0016601 9.49 RAC1 RAC2
7 bone resorption GO:0045453 9.48 RAC1 RAC2
8 superoxide metabolic process GO:0006801 9.46 NCF1 NCF2
9 positive regulation of lamellipodium assembly GO:0010592 9.43 RAC1 RAC2
10 engulfment of apoptotic cell GO:0043652 9.4 RAC1 RAC2
11 regulation of hydrogen peroxide metabolic process GO:0010310 9.26 RAC1 RAC2
12 regulation of respiratory burst GO:0060263 9.16 RAC1 RAC2
13 respiratory burst GO:0045730 9.13 NCF1 NCF2 NOX1
14 superoxide anion generation GO:0042554 8.8 NCF1 NCF2 NOX1

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

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

Sources for Retinitis Pigmentosa 47

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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