MCID: RTN016
MIFTS: 41

Retinal Degeneration malady

Summaries for Retinal Degeneration

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33MalaCards
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MalaCards: Retinal Degeneration, also known as degeneration of retina, is related to leber congenital amaurosis and blindness. An important gene associated with Retinal Degeneration is PRPH2 (peripherin 2 (retinal degeneration, slow)). The compound phosphatidylinositol-3,4,5-trisphosphate have been mentioned in the context of this disorder. Related mouse phenotypes are nervous system and vision/eye.

Aliases & Classifications for Retinal Degeneration

Sources:
8Disease Ontology, 10DISEASES, 45Novoseek, 61UMLS, 57SNOMED-CT, 40NCIt, 35MeSH
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Aliases & Descriptions:

retinal degeneration 8 10 45 61
degeneration of retina 8
retina degeneration 8


External Ids:

Disease Ontology8 DOID:8466
NCIt40 C34979
SNOMED-CT57 95695004
MeSH35 D012162

Related Diseases for Retinal Degeneration

Sources:
17GeneCards, 18GeneDecks
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Diseases in the retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma family:

retinal degeneration late-onset retinal degeneration

Diseases related to Retinal Degeneration via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 107)
idRelated DiseaseScoreTop Affiliating Genes
1leber congenital amaurosis30.5MPP5, RD3
2blindness30.3ATXN7, MYO7A
3spinocerebellar ataxia30.1ATXN1, ATXN7
4hereditary ataxia29.9ATXN7, ATXN1
5spinocerebellar ataxia type 729.9ATXN7
6late-onset retinal degeneration10.6
7retinitis pigmentosa10.6
8trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina10.4
9retinal degeneration, late-onset, autosomal dominant10.4
10olivopontocerebellar atrophy10.3
11n syndrome10.3
12cerebellar degeneration10.3
13hypoxia10.3
14infantile cerebellar-retinal degeneration10.3
15retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma10.3
16ataxia10.3
17smith-lemli-opitz syndrome10.3
18gyrate atrophy10.3
19nephronophthisis10.3
20cobblestone retinal degeneration10.3
21encephalopathy intracranial calcification growth hormone deficiency microcephaly retinal degeneration10.3
22goldmann-favre syndrome10.3
23doyne honeycomb retinal dystrophy10.2
24senile reticular retinal degeneration10.2
25cystoid macular retinal degeneration10.2
26cone dystrophy10.2
27spinocerebellar degeneration10.2
28retinal degeneration, autosomal recessive, clumped pigment type10.2
29stargardt disease10.1
30hypobetalipoproteinemia10.1
31bardet-biedl syndrome10.1
32mucolipidosis10.1
33coloboma10.1
34blessig's cysts10.1
35pseudoretinitis pigmentosa10.1
36central serous chorioretinopathy10.1
37hemiplegic migraine10.1
38spastic paraplegia 1510.1
39macular dystrophy10.1
40atrioventricular block10.1
41retinal lattice degeneration10.1
42rhyns syndrome10.0ROM1, MYO7A, MPP5, RP2, PRPH2
43retinal disease10.0PITPNM1, MPP5, PRPH2, ROM1, RP2
44cone-rod dystrophy 210.0PITPNM3, PRPH2
45retinitis10.0RP2
46spinocerebellar ataxia type 1210.0ATXN7, ATXN1
47peripheral retinal degeneration10.0ROM1
48spinocerebellar ataxia type 1710.0ATXN1, ATXN7
49dentatorubral-pallidoluysian atrophy10.0ATXN7, ATXN1
50spinocerebellar ataxia type 310.0ATXN7, ATXN1

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



Diseases related to retinal degeneration

Clinical Features for Retinal Degeneration

Drugs & Therapeutics for Retinal Degeneration

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Retinal Degeneration

Drug clinical trials:

Search ClinicalTrials for Retinal Degeneration

Search NIH Clinical Center for Retinal Degeneration

Search CenterWatch for Retinal Degeneration

Genetic Tests for Retinal Degeneration

Anatomical Context for Retinal Degeneration

Animal Models for Retinal Degeneration or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Retinal Degeneration:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000363111.0C1QTNF5, BBS7, RD3, MPP5, ATXN7, ATXN1
2MP:000539110.8C1QTNF5, BBS7, PPEF2, PPEF1, RD3, MPP5

Publications for Retinal Degeneration

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51PubMed
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Articles related to Retinal Degeneration:

(show top 50)    (show all 781)
idTitleAuthorsYear
1
Inner retinal layer comparisons of eyes with exudative age-related macular degeneration and eyes with age-related macular degeneration and glaucoma. (24146272)
2013
2
Rapid response of retinal pigment epithelial detachments to intravitreal aflibercept in neovascular age-related macular degeneration refractory to bevacizumab and ranibizumab. (23558214)
2013
3
Long-term results of the effect of intravitreal ranibizumab on the retinal arteriolar diameter in patients with neovascular age-related macular degeneration. (23590391)
2013
4
Oxidative stress retards vascular development before neural degeneration occurs in retinal degeneration rd1 mice. (24362812)
2013
5
Sustained ocular hypertension induces dendritic degeneration of mouse retinal ganglion cells that depends on cell type and location. (23322576)
2013
6
The Oral Iron Chelator Deferiprone Protects Against Retinal Degeneration Induced through Diverse Mechanisms. (24049709)
2012
7
Loss of daylight vision in retinal degeneration: are oxidative stress and metabolic dysregulation to blame? (22074929)
2012
8
Anthocyanins from the seed coat of black soybean reduce retinal degeneration induced by N-methyl-N-nitrosourea. (22387136)
2012
9
Complement activation in retinal degeneration. (22183312)
2012
10
Protective role of somatostatin receptor 2 against retinal degeneration in response to hypoxia. (22311350)
2012
11
Correlation between high-resolution optical coherence tomography (OCT) images and histopathology in an iodoacetic acid-induced model of retinal degeneration in rabbits. (21030415)
2011
12
Mutations in a novel cilia-centrosome protein cause a cystic kidney disease associated with retinal degeneration. (21199495)
2011
13
Human CRB1-associated retinal degeneration: comparison with the rd8 Crb1-mutant mouse model. (21757580)
2011
14
Morphological and functional evaluation of an animal model for the retinal degeneration induced by N-methyl-N-nitrosourea. (22254160)
2011
15
Retinal degeneration modulates intracellular localization of CDC42 in photoreceptors. (22128240)
2011
16
Analysis of complement expression in light-induced retinal degeneration: synthesis and deposition of C3 by microglia/macrophages is associated with focal photoreceptor degeneration. (21571681)
2011
17
Knockdown of the zebrafish ortholog of the retinitis pigmentosa 2 (RP2) gene results in retinal degeneration. (21282572)
2011
18
Functional analysis of BBS3 A89V that results in non-syndromic retinal degeneration. (21282186)
2011
19
Constituents of bile, bilirubin and TUDCA, protect against oxidative stress-induced retinal degeneration. (21054389)
2011
20
CFH and ARMS2 variations in age-related macular degeneration, polypoidal choroidal vasculopathy, and retinal angiomatous proliferation. (20574013)
2010
21
Activation of mitochondrial calpain and release of apoptosis-inducing factor from mitochondria in RCS rat retinal degeneration. (20547152)
2010
22
A monogenic dominant mutation in Rom1 generated by N-ethyl-N-nitrosourea mutagenesis causes retinal degeneration in mice. (20300562)
2010
23
Later retinal degeneration following childhood surgical aphakia in a family with recessive CRYAB mutation (p.R56W). (20141356)
2010
24
Light effects on mitochondrial photosensitizers in relation to retinal degeneration. (20927586)
2010
25
Urocortin 2 protects against retinal degeneration following bilateral common carotid artery occlusion in the rat. (19429103)
2009
26
Mapping retinal degeneration and loss-of-function in Rd-FTL mice. (19661224)
2009
27
NR2E3 mutations in enhanced S-cone sensitivity syndrome (ESCS), Goldmann-Favre syndrome (GFS), clumped pigmentary retinal degeneration (CPRD), and retinitis pigmentosa (RP). (19718767)
2009
28
BMP4 mediates oxidative stress-induced retinal pigment epithelial cell senescence and is overexpressed in age-related macular degeneration. (19158083)
2009
29
Late-onset retinal macular degeneration: clinical insights into an inherited retinal degeneration. (19098033)
2009
30
Proceedings of the XII International Symposium on Retinal Degeneration dedicated to Nicolas G. Bazan, M.D., Ph.D. October 23-28, 2006. San Carlos de Bariloche, Argentina. (18240425)
2008
31
On the role of CNTF as a potential therapy for retinal degeneration: Dr. Jekyll or Mr. Hyde? (18188927)
2008
32
Endoplasmic reticulum stress is activated in light-induced retinal degeneration. (17929311)
2008
33
A common microRNA signature in mouse models of retinal degeneration. (18834879)
2008
34
A strong genetic determinant of hyperoxia-related retinal degeneration on mouse chromosome 6. (17197561)
2007
35
Mice lacking alpha/beta subunits of GlcNAc-1-phosphotransferase exhibit growth retardation, retinal degeneration, and secretory cell lesions. (17962477)
2007
36
Motor and visuospatial abilities in a model of olivocerebellar and retinal degeneration--Lurcher mutant mice of C3H strain. (17682725)
2007
37
Flicker assessment of rod and cone function in a model of retinal degeneration. (17674067)
2007
38
In contrast to AAV-mediated Cntf expression, AAV-mediated Gdnf expression enhances gene replacement therapy in rodent models of retinal degeneration. (16872907)
2006
39
Rare earth nanoparticles prevent retinal degeneration induced by intracellular peroxides. (18654167)
2006
40
Mutation in the guanine nucleotide-binding protein beta-3 causes retinal degeneration and embryonic mortality in chickens. (17065478)
2006
41
The electroretinogram components in Abyssinian cats with hereditary retinal degeneration. (16877442)
2006
42
Prevalence and characteristics of peripheral retinal degeneration in Chinese adults with high myopia: a cross-sectional prevalence survey. (15829850)
2005
43
Potential role of glial cell line-derived neurotrophic factor receptors in MA1ller glial cells during light-induced retinal degeneration. (14596863)
2003
44
The diagnosis of autosomal dominant late-onset retinal degeneration in two sisters. (12802359)
2003
45
A mouse model of gyrate atrophy of the choroid and retina. Early retinal pigment epithelium damage and progressive retinal degeneration. (8675686)
1996
46
Pathology of hereditary retinal degeneration associated with hypobetalipoproteinemia. (8302562)
1994
47
Juvenile vitreoretinal degeneration and retinal detachment. (3002098)
1985
48
Lipoatrophic diabetes: a new variant characterized by tapeto-retinal degeneration, late onset generalized lipoatrophy, insulin-resistant hyperglycemia and hyperlipidemia. (5051798)
1972
49
Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafness: a specific syndrome (not hitherto described) distinct from the Laurence-Moon-Bardet-Biedl syndrome: a clinical, endocrinological and genetic examination based on a large pedigree. (13649370)
1959
50
Central myopic degeneration or central retinal vascular disease. (21015201)
1946

Genetic Variations for Retinal Degeneration

Expression for genes affiliated with Retinal Degeneration

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Retinal Degeneration

Search GEO for disease gene expression data for Retinal Degeneration.

Pathways for genes affiliated with Retinal Degeneration

Compounds for genes affiliated with Retinal Degeneration

Sources:
45Novoseek, 24HMDB
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Compounds related to Retinal Degeneration according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1phosphatidylinositol-3,4,5-trisphosphate45 2411.7PITPNM1, PITPNM2, PITPNM3, PITPNC1

GO Terms for genes affiliated with Retinal Degeneration

Sources:
16Gene Ontology
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Cellular components related to Retinal Degeneration according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1photoreceptor outer segmentGO:00175010.6MYO7A, PPEF2
2endomembrane systemGO:01250510.6MPP5, PITPNM2, PITPNM3
3photoreceptor inner segmentGO:00191710.3MYO7A, PPEF2

Biological processes related to Retinal Degeneration according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1visual perceptionGO:00760111.2ROM1, BBS10, BBS7, RP2, PPEF2, RD3
2negative regulation of phosphorylationGO:04232610.6ATXN7, ATXN1
3detection of stimulus involved in sensory perceptionGO:05090610.6PPEF1, PPEF2
4response to stimulusGO:05089610.6PRCD, RD3, BBS10
5negative regulation of insulin-like growth factor receptor signaling pathwayGO:04356910.3ATXN7, ATXN1

Molecular functions related to Retinal Degeneration according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:00551511.1BBS10, BBS7, DGKI, PPEF2, PPEF1, PITPNC1
2phosphatidylinositol transporter activityGO:00852610.7PITPNM3, PITPNM1, PITPNC1
3lipid bindingGO:00828910.7PITPNC1, PITPNM3, PITPNM2
4protein serine/threonine phosphatase activityGO:00472210.6PPEF1, PPEF2
5manganese ion bindingGO:03014510.3PPEF1, PPEF2

Products for genes affiliated with Retinal Degeneration

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Sources for Retinal Degeneration

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet