MCID: RTN016
MIFTS: 43

Retinal Degeneration malady

Genetic diseases (common), Eye diseases categories

Summaries for Retinal Degeneration

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34MalaCards
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MalaCards: Retinal Degeneration, also known as degeneration of retina, is related to peripheral retinal degeneration and leber congenital amaurosis. An important gene associated with Retinal Degeneration is RD3 (retinal degeneration 3). Affiliated tissues include retina, eye and bone, and related mouse phenotypes are nervous system and vision/eye.

Aliases & Classifications for Retinal Degeneration

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9Disease Ontology, 11DISEASES, 46Novoseek, 63UMLS, 59SNOMED-CT, 36MeSH, 41NCIt
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)
Anatomical: Eye diseases


Aliases & Descriptions:

retinal degeneration 9 11 46 63
degeneration of retina 9
retina degeneration 9


External Ids:

Disease Ontology9 DOID:8466
MeSH36 D012162
SNOMED-CT59 95695004
NCIt41 C34979

Related Diseases for Retinal Degeneration

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18GeneCards, 19GeneDecks
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Diseases in the Retinal Degeneration family:

Late-Onset Retinal Degeneration

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

(show top 50)    (show all 142)
idRelated DiseaseScoreTop Affiliating Genes
1peripheral retinal degeneration31.0ROM1
2leber congenital amaurosis30.7RD3
3spinocerebellar ataxia type 730.5ATXN7
4hereditary ataxia30.0ATXN7, ATXN1
5retinitis11.4
6retinitis pigmentosa10.6
7late-onset retinal degeneration10.6
8neuronitis10.5
9trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina10.4
10choroiditis10.4
11age related macular degeneration10.4
12olivopontocerebellar atrophy10.4
13hypoxia10.4
14retinal degeneration, late-onset, autosomal dominant10.4
15infantile cerebellar-retinal degeneration10.4
16obesity10.3
17retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma10.3
18ataxia10.3
19blindness10.3
20gyrate atrophy10.3
21nephronophthisis10.3
22cobblestone retinal degeneration10.3
23smith-lemli-opitz syndrome10.3
24encephalopathy intracranial calcification growth hormone deficiency microcephaly retinal degeneration10.3
25goldmann-favre syndrome10.3
26spastic paraplegia 1510.3
27doyne honeycomb retinal dystrophy10.3
28senile reticular retinal degeneration10.2
29cone-rod dystrophy10.2
30cystoid macular retinal degeneration10.2
31cerebellar ataxia10.2
32glaucoma10.2
33myopia10.2
34neuronal ceroid lipofuscinosis10.2
35retinal degeneration, autosomal recessive, clumped pigment type10.2
36stargardt disease10.1
37hypobetalipoproteinemia10.1
38ocular hypertension10.1
39coloboma10.1
40pseudoretinitis pigmentosa10.1
41blessig's cysts10.1
42hyperglycemia10.1
43hypertension10.1
44kidney disease10.1
45migraine10.1
46myopathy10.1
47neuropathy10.1
48night blindness10.1
49retinal disease10.1
50spinocerebellar ataxia10.1

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



Diseases related to retinal degeneration

Symptoms for Retinal Degeneration

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Drugs & Therapeutics for Retinal Degeneration

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Retinal Degeneration

Search CenterWatch for Retinal Degeneration

Genetic Tests for Retinal Degeneration

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Anatomical Context for Retinal Degeneration

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34MalaCards
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MalaCards organs/tissues related to Retinal Degeneration:

34
Retina, Eye, Bone, Cortex, Endothelial, Kidney, Bone marrow, Brain, Pituitary, Liver, Testes

Animal Models for Retinal Degeneration or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Retinal Degeneration:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036317.6ATXN1, ATXN7, MYO7A, PRPH2, BBS7, ROM1
2MP:00053917.1RD3, PPEF2, PITPNM1, C1QTNF5, ATXN7, MYO7A

Publications for Retinal Degeneration

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53PubMed
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Articles related to Retinal Degeneration:

(show top 50)    (show all 648)
idTitleAuthorsYear
1
Chlorogenic Acid and Coffee Prevent Hypoxia-Induced Retinal Degeneration. (24295042)
2013
2
Ccl2, Cx3cr1 and Ccl2/Cx3cr1 chemokine deficiencies are not sufficient to cause age-related retinal degeneration. (23232206)
2013
3
Disruption of CEP290 microtubule/membrane-binding domains causes retinal degeneration. (24051377)
2013
4
Nestin expression in the retina of rats with inherited retinal degeneration. (23399867)
2013
5
Reply to Townes-Anderson: RPE65 gene therapy does not alter the natural history of retinal degeneration. (23789127)
2013
6
Light-induced retinal degeneration is prevented by zinc, a component in the age-related eye disease study formulation. (22385127)
2012
7
Atypical retinal degeneration 3 in mice is caused by defective PDE6B pre-mRNA splicing. (22326271)
2012
8
Transsynaptic retinal degeneration in optic neuropathies: optical coherence tomography study. (22222509)
2012
9
Optimization of in vivo confocal autofluorescence imaging of the ocular fundus in mice and its application to models of human retinal degeneration. (22169101)
2012
10
Induction of endoplasmic reticulum stress genes, BiP and chop, in genetic and environmental models of retinal degeneration. (23074209)
2012
11
Drosophila king tubby (ktub) mediates light-induced rhodopsin endocytosis and retinal degeneration. (23228091)
2012
12
Ceramide signaling in retinal degeneration. (22183377)
2012
13
Retina-specific activation of a sustained hypoxia-like response leads to severe retinal degeneration and loss of vision. (20817091)
2011
14
Cone degeneration following rod ablation in a reversible model of retinal degeneration. (20720220)
2011
15
Correlation between high-resolution optical coherence tomography (OCT) images and histopathology in an iodoacetic acid-induced model of retinal degeneration in rabbits. (21030415)
2011
16
Spontaneous Oscillatory Rhythm in Retinal Activities of Two Retinal Degeneration (rd1 and rd10) Mice. (22359480)
2011
17
Review: Animal models of N-Methyl-N-nitrosourea-induced mammary cancer and retinal degeneration with special emphasis on therapeutic trials. (21282729)
2011
18
Mutations in a novel cilia-centrosome protein cause a cystic kidney disease associated with retinal degeneration. (21199495)
2011
19
Evaluation of retinal degeneration in P27KIP1 null mouse. (20238048)
2010
20
Gene therapy in the Retinal Degeneration Slow model of retinitis pigmentosa. (20238065)
2010
21
Deafness and retinal degeneration in a novel USH1C knock-in mouse model. (20095043)
2010
22
Genetic heterogeneity in two consanguineous families segregating early onset retinal degeneration: the pitfalls of homozygosity mapping. (19140180)
2009
23
Generation of a transgenic rabbit model of retinal degeneration. (19074802)
2009
24
Suppression of retinal degeneration in Drosophila by stimulation of ER-associated degradation. (19805114)
2009
25
Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in mice. (19409519)
2009
26
Development of lead hammerhead ribozyme candidates against human rod opsin mRNA for retinal degeneration therapy. (19094986)
2009
27
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
28
Exacerbation of retinal degeneration in the absence of alpha crystallins in an in vivo model of chemically induced hypoxia. (18191123)
2008
29
A computational model of perceptual fill-in following retinal degeneration. (18199820)
2008
30
Neuron-specific enolase antibodies in patients with sudden acquired retinal degeneration syndrome. (18405980)
2008
31
Monitoring mouse retinal degeneration with high-resolution spectral-domain optical coherence tomography. (18318620)
2008
32
A novel mutation in Prph2, a gene regulated by Nr2e3, causes retinal degeneration and outer-segment defects similar to Nr2e3 ( rd7/rd7 ) retinas. (18763016)
2008
33
Non-invasive gene transfer by iontophoresis for therapy of an inherited retinal degeneration. (18653181)
2008
34
Emergence of sustained spontaneous hyperactivity and temporary preservation of OFF responses in ganglion cells of the retinal degeneration (rd1) mouse. (18216234)
2008
35
Perinatal hypoxia induces subsequent retinal degeneration in the offspring of ovoviviparous fish, Xiphophorous maculates. (17760707)
2007
36
Unfolded protein response in a Drosophila model for retinal degeneration. (17170705)
2007
37
Mutations in splicing factor PRPF3, causing retinal degeneration, form detrimental aggregates in photoreceptor cells. (17517693)
2007
38
MA1ller cells as players in retinal degeneration and edema. (17219109)
2007
39
Photoreceptor cell apoptosis in the retinal degeneration of Uchl3-deficient mice. (16816367)
2006
40
Evaluation of a comparative pathogenesis between cancer-associated retinopathy in humans and sudden acquired retinal degeneration syndrome in dogs via diagnostic imaging and western blot analysis. (16649924)
2006
41
Lipid hydroperoxide formation in the retina: correlation with retinal degeneration and light damage in a rat model of Smith-Lemli-Opitz syndrome. (16199034)
2006
42
Maculopathy and retinal degeneration in cobalamin C methylmalonic aciduria and homocystinuria. (16087854)
2005
43
Stationary night blindness or progressive retinal degeneration in mice carrying different alleles of PDE gamma. (12700134)
2003
44
Retinal degeneration caused by mutations in TULP1. (15180277)
2003
45
Tubby-like protein 1 homozygous splice-site mutation causes early-onset severe retinal degeneration. (10440267)
1999
46
Molecular cloning, expression, and characterization of a novel human serine/threonine protein phosphatase, PP7, that is homologous to Drosophila retinal degeneration C gene product (rdgC). (9430683)
1998
47
Retinal degeneration in choroideremia: deficiency of rab geranylgeranyl transferase. (8380507)
1993
48
The human retinal degeneration slow (RDS) gene: chromosome assignment and structure of the mRNA. (1679750)
1991
49
Senior-Loken syndrome (nephronophthisis and tapeto-retinal degeneration): a study of 8 cases from 5 families. (1248184)
1976
50
Familial association of central and peripheral retinal degeneration. (13890923)
1961

Variations for Retinal Degeneration

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Expression for genes affiliated with Retinal Degeneration

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Retinal Degeneration

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Pathways for genes affiliated with Retinal Degeneration

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Compounds for genes affiliated with Retinal Degeneration

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GO Terms for genes affiliated with Retinal Degeneration

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17Gene Ontology
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Biological processes related to Retinal Degeneration according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1negative regulation of insulin-like growth factor receptor signaling pathwayGO:0435699.6ATXN7, ATXN1
2negative regulation of phosphorylationGO:0423269.6ATXN7, ATXN1
3nonmotile primary cilium assemblyGO:0350589.4BBS7, BBS10
4response to stimulusGO:0508969.4BBS10, RD3, PRCD
5phospholipid transportGO:0159148.8PITPNM1, PITPNM3
6visual perceptionGO:0076017.1RD3, PPEF2, ATXN7, MYO7A, PRPH2, PRCD

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

idNameGO IDScoreTop Affiliating Genes
1phosphatidylinositol transporter activityGO:0085269.1PITPNM3, PITPNM1

Products for genes affiliated with Retinal Degeneration

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Sources for Retinal Degeneration

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet