MCID: RTN016
MIFTS: 44

Retinal Degeneration malady

Genetic diseases (common), Eye diseases categories
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Summaries for Retinal Degeneration

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MalaCards based summary: 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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Sources:
8Disease Ontology, 10DISEASES, 44Novoseek, 62UMLS, 57SNOMED-CT, 39NCIt, 34MeSH
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Retinal Degeneration, Aliases & Descriptions:

Name: Retinal Degeneration 8 10 44 62
Degeneration of Retina 8 62
 
Retina Degeneration 8


Classifications:

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


External Ids:

Disease Ontology8 DOID:8466
NCIt39 C34979
SNOMED-CT57 95695004
MeSH34 D012162

Related Diseases for Retinal Degeneration

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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 146)
idRelated DiseaseScoreTop Affiliating Genes
1peripheral retinal degeneration31.5ROM1
2leber congenital amaurosis31.3RD3
3spinocerebellar ataxia type 731.1ATXN7
4hereditary ataxia30.1ATXN7, ATXN1
5machado-joseph disease29.8ATXN7, ATXN1
6retinitis11.4
7retinitis pigmentosa10.7
8late-onset retinal degeneration10.6
9neuronitis10.5
10infantile cerebellar-retinal degeneration10.5
11trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina10.5
12fundus flavimaculatus10.4ROM1
13age related macular degeneration10.4
14choroiditis10.4
15retinal degeneration, late-onset, autosomal dominant10.4
16obesity10.4
17olivopontocerebellar atrophy10.4
18ataxia10.4
19hypoxia10.4
20doyne honeycomb retinal dystrophy10.4
21nephronophthisis10.3
22retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma10.3
23spastic paraplegia 1510.3
24blindness10.3
25smith-lemli-opitz syndrome10.3
26gyrate atrophy10.3
27cobblestone retinal degeneration10.3
28encephalopathy intracranial calcification growth hormone deficiency microcephaly retinal degeneration10.3
29goldmann-favre syndrome10.3
30bardet-biedl syndrome 1010.3BBS10
31retinal lattice degeneration10.3
32bardet-biedl syndrome 710.2BBS7
33cerebellar ataxia10.2
34cone-rod dystrophy10.2
35cystoid macular retinal degeneration10.2
36bardet-biedl syndrome10.2
37senile reticular retinal degeneration10.2
38myopia10.2
39neuronal ceroid lipofuscinosis10.2
40spinocerebellar ataxia10.2
41retinal degeneration, autosomal recessive, clumped pigment type10.2
42vitelliform macular dystrophy10.2PRPH2, ROM1
43stargardt disease10.1
44hypertension10.1
45hypobetalipoproteinemia10.1
46ocular hypertension10.1
47coloboma10.1
48blessig's cysts10.1
49pseudoretinitis pigmentosa10.1
50mucolipidosis10.1

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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Drug clinical trials:

Search ClinicalTrials for Retinal Degeneration

Search NIH Clinical Center for Retinal Degeneration

Genetic Tests for Retinal Degeneration

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Anatomical Context for Retinal Degeneration

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MalaCards organs/tissues related to Retinal Degeneration:

32
Retina, Eye, Bone, Bone marrow, Cortex, Brain, Kidney, Endothelial, Pituitary, Liver, Testes

Animal Models for Retinal Degeneration or affiliated genes

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MGI Mouse Phenotypes related to Retinal Degeneration:

36
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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Articles related to Retinal Degeneration:

(show top 50)    (show all 674)
idTitleAuthorsYear
1
Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome. (25168386)
2014
2
The comparison of sensitivity of motion sickness between retinal degeneration fast mice and normal mice. (24553916)
2014
3
Microglia activation in a model of retinal degeneration and TUDCA neuroprotective effects. (25359524)
2014
4
Genetic ablation of N-linked glycosylation reveals two key folding pathways for R345W fibulin-3, a secreted protein associated with retinal degeneration. (25389134)
2014
5
Chlorogenic Acid and Coffee Prevent Hypoxia-Induced Retinal Degeneration. (24295042)
2013
6
Ccl2, Cx3cr1 and Ccl2/Cx3cr1 chemokine deficiencies are not sufficient to cause age-related retinal degeneration. (23232206)
2013
7
Disruption of CEP290 microtubule/membrane-binding domains causes retinal degeneration. (24051377)
2013
8
Nestin expression in the retina of rats with inherited retinal degeneration. (23399867)
2013
9
Light-induced retinal degeneration is prevented by zinc, a component in the age-related eye disease study formulation. (22385127)
2012
10
Atypical retinal degeneration 3 in mice is caused by defective PDE6B pre-mRNA splicing. (22326271)
2012
11
Transsynaptic retinal degeneration in optic neuropathies: optical coherence tomography study. (22222509)
2012
12
Optimization of in vivo confocal autofluorescence imaging of the ocular fundus in mice and its application to models of human retinal degeneration. (22169101)
2012
13
Induction of endoplasmic reticulum stress genes, BiP and chop, in genetic and environmental models of retinal degeneration. (23074209)
2012
14
Drosophila king tubby (ktub) mediates light-induced rhodopsin endocytosis and retinal degeneration. (23228091)
2012
15
Ceramide signaling in retinal degeneration. (22183377)
2012
16
Retina-specific activation of a sustained hypoxia-like response leads to severe retinal degeneration and loss of vision. (20817091)
2011
17
Cone degeneration following rod ablation in a reversible model of retinal degeneration. (20720220)
2011
18
Correlation between high-resolution optical coherence tomography (OCT) images and histopathology in an iodoacetic acid-induced model of retinal degeneration in rabbits. (21030415)
2011
19
Spontaneous Oscillatory Rhythm in Retinal Activities of Two Retinal Degeneration (rd1 and rd10) Mice. (22359480)
2011
20
Review: Animal models of N-Methyl-N-nitrosourea-induced mammary cancer and retinal degeneration with special emphasis on therapeutic trials. (21282729)
2011
21
Mutations in a novel cilia-centrosome protein cause a cystic kidney disease associated with retinal degeneration. (21199495)
2011
22
Evaluation of retinal degeneration in P27KIP1 null mouse. (20238048)
2010
23
Gene therapy in the Retinal Degeneration Slow model of retinitis pigmentosa. (20238065)
2010
24
Genetic heterogeneity in two consanguineous families segregating early onset retinal degeneration: the pitfalls of homozygosity mapping. (19140180)
2009
25
Generation of a transgenic rabbit model of retinal degeneration. (19074802)
2009
26
Suppression of retinal degeneration in Drosophila by stimulation of ER-associated degradation. (19805114)
2009
27
Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in mice. (19409519)
2009
28
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
29
Exacerbation of retinal degeneration in the absence of alpha crystallins in an in vivo model of chemically induced hypoxia. (18191123)
2008
30
A computational model of perceptual fill-in following retinal degeneration. (18199820)
2008
31
Neuron-specific enolase antibodies in patients with sudden acquired retinal degeneration syndrome. (18405980)
2008
32
Monitoring mouse retinal degeneration with high-resolution spectral-domain optical coherence tomography. (18318620)
2008
33
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
34
Non-invasive gene transfer by iontophoresis for therapy of an inherited retinal degeneration. (18653181)
2008
35
Emergence of sustained spontaneous hyperactivity and temporary preservation of OFF responses in ganglion cells of the retinal degeneration (rd1) mouse. (18216234)
2008
36
Perinatal hypoxia induces subsequent retinal degeneration in the offspring of ovoviviparous fish, Xiphophorous maculates. (17760707)
2007
37
Unfolded protein response in a Drosophila model for retinal degeneration. (17170705)
2007
38
Mutations in splicing factor PRPF3, causing retinal degeneration, form detrimental aggregates in photoreceptor cells. (17517693)
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
Maculopathy and retinal degeneration in cobalamin C methylmalonic aciduria and homocystinuria. (16087854)
2005
42
Stationary night blindness or progressive retinal degeneration in mice carrying different alleles of PDE gamma. (12700134)
2003
43
Retinal degeneration caused by mutations in TULP1. (15180277)
2003
44
Retinal degeneration associated with congenital transcobalamin II deficiency. (11448334)
2001
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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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

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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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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:0508969.4PRCD, BBS10, RD3
5phospholipid transportGO:0159148.8PITPNM3, PITPNM1
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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  • Antibodies
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Sources for Retinal Degeneration

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet