MCID: PRP026
MIFTS: 29

Peripheral Retinal Degeneration

Categories: Eye diseases

Aliases & Classifications for Peripheral Retinal Degeneration

MalaCards integrated aliases for Peripheral Retinal Degeneration:

Name: Peripheral Retinal Degeneration 12 14
Peripheral Degeneration of Retina 12 69

Classifications:



External Ids:

Disease Ontology 12 DOID:12161
ICD10 32 H35.4 H35.40
ICD9CM 34 362.6 362.60
NCIt 46 C34919
UMLS 69 C1320640

Summaries for Peripheral Retinal Degeneration

MalaCards based summary : Peripheral Retinal Degeneration, also known as peripheral degeneration of retina, is related to retinal degeneration and butterfly-shaped pigment dystrophy. An important gene associated with Peripheral Retinal Degeneration is PRPH2 (Peripherin 2), and among its related pathways/superpathways are Endochondral Ossification and Cell adhesion_ECM remodeling. Affiliated tissues include retina and eye, and related phenotypes are Resistant to vaccinia virus (VACV-A4L) infection and pigmentation

Related Diseases for Peripheral Retinal Degeneration

Graphical network of the top 20 diseases related to Peripheral Retinal Degeneration:



Diseases related to Peripheral Retinal Degeneration

Symptoms & Phenotypes for Peripheral Retinal Degeneration

GenomeRNAi Phenotypes related to Peripheral Retinal Degeneration according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Resistant to vaccinia virus (VACV-A4L) infection GR00351-A-1 9.02 COL2A1 MBL2 RPGR TF TIMP3

MGI Mouse Phenotypes related to Peripheral Retinal Degeneration:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 9.26 BEST1 PRPH2 RPGR TIMP3
2 vision/eye MP:0005391 9.1 BEST1 COL2A1 PRPH2 ROM1 RPGR TIMP3

Drugs & Therapeutics for Peripheral Retinal Degeneration

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Pain Perception at Laser Treatment Completed NCT01033968 Phase 4

Search NIH Clinical Center for Peripheral Retinal Degeneration

Genetic Tests for Peripheral Retinal Degeneration

Anatomical Context for Peripheral Retinal Degeneration

MalaCards organs/tissues related to Peripheral Retinal Degeneration:

38
Retina, Eye

Publications for Peripheral Retinal Degeneration

Articles related to Peripheral Retinal Degeneration:

(show all 11)
# Title Authors Year
1
Primary visual cortical remapping in patients with inherited peripheral retinal degeneration. ( 28116235 )
2017
2
PERIPHERAL RETINAL DEGENERATIONS AND RHEGMATOGENOUS DETACHMENT IN PRIMARY CONGENITAL GLAUCOMA. ( 26200515 )
2015
3
Prevalence and characteristics of peripheral retinal degeneration in Chinese adults with high myopia: a cross-sectional prevalence survey. ( 15829850 )
2005
4
A peripherin/retinal degeneration slow mutation (Pro-210-Arg) associated with macular and peripheral retinal degeneration. ( 7862413 )
1995
5
Dominant macular subretinal neovascularization with peripheral retinal degeneration. ( 2446233 )
1987
6
Animal model: peripheral retinal degeneration in rats. ( 525679 )
1979
7
The classification and terminology of peripheral retinal degeneration. ( 1160882 )
1975
8
Peripheral retinal degeneration in high myopia. ( 5546858 )
1971
9
Relationship between ophthalmoscopic and histopathologic findings in peripheral retinal degeneration. ( 5604436 )
1967
10
Peripheral retinal degeneration. ( 6054908 )
1967
11
Familial association of central and peripheral retinal degeneration. ( 13890923 )
1961

Variations for Peripheral Retinal Degeneration

Expression for Peripheral Retinal Degeneration

Search GEO for disease gene expression data for Peripheral Retinal Degeneration.

Pathways for Peripheral Retinal Degeneration

Pathways related to Peripheral Retinal Degeneration according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.77 COL2A1 TIMP3
2 10.41 COL2A1 TIMP3

GO Terms for Peripheral Retinal Degeneration

Cellular components related to Peripheral Retinal Degeneration according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 collagen trimer GO:0005581 9.16 COL2A1 MBL2
2 basement membrane GO:0005604 8.96 COL2A1 TIMP3
3 photoreceptor outer segment GO:0001750 8.62 PRPH2 RPGR

Biological processes related to Peripheral Retinal Degeneration according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.1 BEST1 COL2A1 PRPH2 ROM1 RPGR TIMP3

Molecular functions related to Peripheral Retinal Degeneration according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 enzyme inhibitor activity GO:0004857 8.62 TF TIMP3

Sources for Peripheral Retinal Degeneration

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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