MCID: RTN016
MIFTS: 38

Retinal Degeneration malady

Genetic diseases, Eye diseases, Rare diseases categories

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, bone and eye, and related mouse phenotypes are nervous system and vision/eye.

Aliases & Classifications for Retinal Degeneration

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Sources:
9Disease Ontology, 11DISEASES, 43Novoseek, 60UMLS, 33MeSH, 38NCIt, 55SNOMED-CT
See all sources

Retinal Degeneration, Aliases & Descriptions:

Name: Retinal Degeneration 9 11 43 60
Degeneration of Retina 9
 
Retina Degeneration 9


Classifications:

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


External Ids:

Disease Ontology9 DOID:8466
MeSH33 D012162
SNOMED-CT55 95695004
NCIt38 C34979

Related Diseases for Retinal Degeneration

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Diseases in the Retinal Degeneration family:

Retinal Degeneration, Late-Onset, Autosomal Dominant

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

(show top 50)    (show all 172)
idRelated DiseaseScoreTop Affiliating Genes
1peripheral retinal degeneration31.5ROM1
2leber congenital amaurosis31.3RD3
3spinocerebellar ataxia 730.8ATXN7
4hereditary ataxia30.1ATXN7, ATXN1
5retinitis pigmentosa autosomal recessive30.0MYO7A, PRPH2, RP2, ROM1
6machado-joseph disease29.7ATXN7, ATXN1
7retinitis11.4
8retinitis pigmentosa10.7
9trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina10.6
10neuronitis10.6
11infantile cerebellar-retinal degeneration10.5
12retinal degeneration, late-onset, autosomal dominant10.5
13stargardt disease 110.4ROM1
14choroiditis10.4
15obesity10.4
16encephalopathy intracranial calcification growth hormone deficiency microcephaly retinal degeneration10.4
17retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma10.4
18ataxia10.4
19hypoxia10.4
20olivopontocerebellar atrophy10.3
21cobblestone retinal degeneration10.3
22spastic paraplegia 1510.3
23blindness10.3
24smith-lemli-opitz syndrome10.3
25enhanced s-cone syndrome10.3
26cerebellar ataxia10.3
27nephronophthisis10.3
28senile reticular retinal degeneration10.3
29cystoid macular retinal degeneration10.3
30neuronal ceroid lipofuscinosis10.3
31goldmann-favre syndrome10.3
32bardet-biedl syndrome 1010.3BBS10
33hypobetalipoproteinemia10.2
34cone-rod dystrophy10.2
35bardet-biedl syndrome10.2
36myopia10.2
37spinocerebellar ataxia10.2
38retinal degeneration autosomal recessive clumped pigment type10.2
39bardet-biedl syndrome 710.2BBS7
40vitelliform macular dystrophy10.2PRPH2, ROM1
41multiple sulfatase deficiency10.1
42abetalipoproteinemia10.1
43migraine10.1
44retinoschisis10.1
4517-beta-hydroxysteroid dehydrogenase x deficiency10.1
46stargardt disease10.1
47ocular hypertension10.1
48mucolipidosis10.1
49coloboma10.1
50usher syndrome10.1

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:

31
Retina, Bone, Eye, 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:

35
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 695)
idTitleAuthorsYear
1
Impaired retinal vasodilator response to acetylcholine in a rat model of NMDA-induced retinal degeneration. (25727959)
2015
2
Advancing therapeutic strategies for inherited retinal degeneration: recommendations from the Monaciano Symposium. (25667399)
2015
3
MA1ller glia activation in response to inherited retinal degeneration is highly varied and disease-specific. (25793273)
2015
4
Proteolytic Cleavage of Ataxin-7 Promotes SCA7 Retinal Degeneration and Neurological Dysfunction. (25859008)
2015
5
Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome. (25168386)
2014
6
Immunosuppressive Treatment for Retinal Degeneration in Juvenile Neuronal Ceroid Lipofuscinosis (Juvenile Batten Disease). (24547931)
2014
7
The comparison of sensitivity of motion sickness between retinal degeneration fast mice and normal mice. (24553916)
2014
8
Microglia activation in a model of retinal degeneration and TUDCA neuroprotective effects. (25359524)
2014
9
Genetic ablation of N-linked glycosylation reveals two key folding pathways for R345W fibulin-3, a secreted protein associated with retinal degeneration. (25389134)
2014
10
Chlorogenic Acid and Coffee Prevent Hypoxia-Induced Retinal Degeneration. (24295042)
2013
11
Ccl2, Cx3cr1 and Ccl2/Cx3cr1 chemokine deficiencies are not sufficient to cause age-related retinal degeneration. (23232206)
2013
12
Disruption of CEP290 microtubule/membrane-binding domains causes retinal degeneration. (24051377)
2013
13
Nestin expression in the retina of rats with inherited retinal degeneration. (23399867)
2013
14
Light-induced retinal degeneration is prevented by zinc, a component in the age-related eye disease study formulation. (22385127)
2012
15
Atypical retinal degeneration 3 in mice is caused by defective PDE6B pre-mRNA splicing. (22326271)
2012
16
Transsynaptic retinal degeneration in optic neuropathies: optical coherence tomography study. (22222509)
2012
17
Optimization of in vivo confocal autofluorescence imaging of the ocular fundus in mice and its application to models of human retinal degeneration. (22169101)
2012
18
Drosophila king tubby (ktub) mediates light-induced rhodopsin endocytosis and retinal degeneration. (23228091)
2012
19
Ceramide signaling in retinal degeneration. (22183377)
2012
20
Retina-specific activation of a sustained hypoxia-like response leads to severe retinal degeneration and loss of vision. (20817091)
2011
21
Cone degeneration following rod ablation in a reversible model of retinal degeneration. (20720220)
2011
22
Correlation between high-resolution optical coherence tomography (OCT) images and histopathology in an iodoacetic acid-induced model of retinal degeneration in rabbits. (21030415)
2011
23
Spontaneous Oscillatory Rhythm in Retinal Activities of Two Retinal Degeneration (rd1 and rd10) Mice. (22359480)
2011
24
Review: Animal models of N-Methyl-N-nitrosourea-induced mammary cancer and retinal degeneration with special emphasis on therapeutic trials. (21282729)
2011
25
Mutations in a novel cilia-centrosome protein cause a cystic kidney disease associated with retinal degeneration. (21199495)
2011
26
Evaluation of retinal degeneration in P27KIP1 null mouse. (20238048)
2010
27
Gene therapy in the Retinal Degeneration Slow model of retinitis pigmentosa. (20238065)
2010
28
Genetic heterogeneity in two consanguineous families segregating early onset retinal degeneration: the pitfalls of homozygosity mapping. (19140180)
2009
29
Generation of a transgenic rabbit model of retinal degeneration. (19074802)
2009
30
Suppression of retinal degeneration in Drosophila by stimulation of ER-associated degradation. (19805114)
2009
31
Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in mice. (19409519)
2009
32
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
33
Exacerbation of retinal degeneration in the absence of alpha crystallins in an in vivo model of chemically induced hypoxia. (18191123)
2008
34
A computational model of perceptual fill-in following retinal degeneration. (18199820)
2008
35
Neuron-specific enolase antibodies in patients with sudden acquired retinal degeneration syndrome. (18405980)
2008
36
Monitoring mouse retinal degeneration with high-resolution spectral-domain optical coherence tomography. (18318620)
2008
37
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
38
Perinatal hypoxia induces subsequent retinal degeneration in the offspring of ovoviviparous fish, Xiphophorous maculates. (17760707)
2007
39
Unfolded protein response in a Drosophila model for retinal degeneration. (17170705)
2007
40
Mutations in splicing factor PRPF3, causing retinal degeneration, form detrimental aggregates in photoreceptor cells. (17517693)
2007
41
Photoreceptor cell apoptosis in the retinal degeneration of Uchl3-deficient mice. (16816367)
2006
42
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
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
Retinal degeneration associated with congenital transcobalamin II deficiency. (11448334)
2001
46
Tubby-like protein 1 homozygous splice-site mutation causes early-onset severe retinal degeneration. (10440267)
1999
47
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
48
Retinal degeneration in choroideremia: deficiency of rab geranylgeranyl transferase. (8380507)
1993
49
The human retinal degeneration slow (RDS) gene: chromosome assignment and structure of the mRNA. (1679750)
1991
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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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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1negative regulation of insulin-like growth factor receptor signaling pathwayGO:00435699.6ATXN7, ATXN1
2negative regulation of phosphorylationGO:00423269.6ATXN7, ATXN1
3nonmotile primary cilium assemblyGO:00350589.4BBS7, BBS10
4response to stimulusGO:00508969.4PRCD, BBS10, RD3
5phospholipid transportGO:00159148.8PITPNM3, PITPNM1
6visual perceptionGO:00076017.1RD3, PPEF2, ATXN7, MYO7A, PRPH2, PRCD

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

idNameGO IDScoreTop Affiliating Genes
1phosphatidylinositol transporter activityGO:00085269.1PITPNM3, 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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet