MCID: RTN016
MIFTS: 47

Retinal Degeneration malady

Eye diseases category

Summaries for Retinal Degeneration

About this section
Sources:
32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
MalaCards: Retinal Degeneration, also known as degeneration of retina, is related to retinitis and retinal disease. 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. Affiliated tissues include retina, eye and bone, and related mouse phenotypes are nervous system and vision/eye.

Aliases & Classifications for Retinal Degeneration

About this section
Sources:
8Disease Ontology, 10DISEASES, 44Novoseek, 60UMLS, 56SNOMED-CT, 39NCIt, 34MeSH
See all sources

Classifications:

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


Aliases & Descriptions:

retinal degeneration 8 10 44 60
degeneration of retina 8
retina degeneration 8


External Ids:

Disease Ontology8 DOID:8466
NCIt39 C34979
SNOMED-CT56 95695004
MeSH34 D012162

Related Diseases for Retinal Degeneration

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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 132)
idRelated DiseaseScoreTop Affiliating Genes
1retinitis32.0RP2
2retinal disease30.9RP2, PITPNM1, MPP5, PRPH2, ROM1
3peripheral retinal degeneration30.8ROM1
4leber congenital amaurosis30.5RD3, MPP5
5spinocerebellar ataxia type 730.2ATXN7
6spinocerebellar ataxia30.1ATXN1, ATXN7
7hereditary ataxia29.9ATXN1, ATXN7
8retinitis pigmentosa10.6
9neuronitis10.5
10trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina10.4
11choroiditis10.4
12age related macular degeneration10.4
13olivopontocerebellar atrophy10.3
14obesity10.3
15retinal degeneration, late-onset, autosomal dominant10.3
16retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma10.3
17infantile cerebellar-retinal degeneration10.3
18smith-lemli-opitz syndrome10.2
19gyrate atrophy10.2
20nephronophthisis10.2
21cobblestone retinal degeneration10.2
22encephalopathy intracranial calcification growth hormone deficiency microcephaly retinal degeneration10.2
23late-onset retinal degeneration10.2
24doyne honeycomb retinal dystrophy10.2
25senile reticular retinal degeneration10.2
26cone-rod dystrophy10.2
27cystoid macular retinal degeneration10.2
28cone dystrophy10.2
29cerebellar ataxia10.2
30glaucoma10.2
31myopia10.2
32neuronal ceroid lipofuscinosis10.2
33retinal detachment10.2
34spinocerebellar degeneration10.2
35retinal degeneration, autosomal recessive, clumped pigment type10.2
36stargardt disease10.1
37hypobetalipoproteinemia10.1
38bardet-biedl syndrome10.1
39mucolipidosis10.1
40coloboma10.1
41blessig's cysts10.1
42pseudoretinitis pigmentosa10.1
43ocular hypertension10.1
44corneal degeneration10.1
45diabetic retinopathy10.1
46hyperglycemia10.1
47hypertension10.1
48kidney disease10.1
49migraine10.1
50myopathy10.1

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



Diseases related to retinal degeneration

Clinical Features for Retinal Degeneration

About this section

Drugs & Therapeutics for Retinal Degeneration

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

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

About this section

Anatomical Context for Retinal Degeneration

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Retinal Degeneration:

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

Animal Models for Retinal Degeneration or affiliated genes

About this section
Sources:
36MGI
See all sources

MGI Mouse Phenotypes related to Retinal Degeneration:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000363111.0BBS7, RD3, MPP5, ATXN7, ATXN1, PRPH2
2MP:000539110.8ROM1, C1QTNF5, BBS7, PPEF2, PPEF1, RD3

Publications for Retinal Degeneration

About this section
Sources:
50PubMed
See all sources

Articles related to Retinal Degeneration:

(show top 50)    (show all 805)
idTitleAuthorsYear
1
Survival and Migration of Pre-induced Adult Human Peripheral Blood Mononuclear Cells in Retinal Degeneration Slow (rds) Mice Three Months After Subretinal Transplantation. (24350910)
2014
2
Alternative splicing and retinal degeneration. (23647439)
2013
3
Depletion of PtdIns(4,5)Pa88 underlies retinal degeneration in Drosophila trp mutants. (23378018)
2013
4
Evaluating Potential Therapies in a Mouse Model of Focal Retinal Degeneration with Age-related Macular Degeneration (AMD)-Like Lesions. (24432192)
2013
5
Photoreceptor cell death and rescue in retinal detachment and degenerations. (23994436)
2013
6
Long-term results of the effect of intravitreal ranibizumab on the retinal arteriolar diameter in patients with neovascular age-related macular degeneration. (23590391)
2013
7
Vitamin A supplementation ameliorates obesity-associated retinal degeneration in WNIN/Ob rats. (23036575)
2013
8
Systemic administration of Abeta mAb reduces retinal deposition of Abeta and activated complement C3 in age-related macular degeneration mouse model. (23799019)
2013
9
Analysis of the RPE sheet in the rd10 retinal degeneration model. (22183388)
2012
10
Annatto prevents retinal degeneration induced by endoplasmic reticulum stress in vitro and in vivo. (22648618)
2012
11
Identification of a novel mutation in the CDHR1 gene in a family with recessive retinal degeneration. (23044944)
2012
12
Inflammatory priming predisposes mice to age-related retinal degeneration. (22797304)
2012
13
Interventions for asymptomatic retinal breaks and lattice degeneration for preventing retinal detachment. (22419286)
2012
14
In vivo assessment of thickness and reflectivity in a rat outer retinal degeneration model with ultrahigh resolution optical coherence tomography. (22395894)
2012
15
Anthocyanins from the seed coat of black soybean reduce retinal degeneration induced by N-methyl-N-nitrosourea. (22387136)
2012
16
New tool for retinal degeneration research. (22345364)
2012
17
Retina-specific activation of a sustained hypoxia-like response leads to severe retinal degeneration and loss of vision. (20817091)
2011
18
Protein misfolding and retinal degeneration. (21825021)
2011
19
Photoreceptor degeneration changes magnetic resonance imaging features in a mouse model of retinitis pigmentosa. (21590807)
2011
20
Morphological and functional evaluation of an animal model for the retinal degeneration induced by N-methyl-N-nitrosourea. (22254160)
2011
21
CNTF induces regeneration of cone outer segments in a rat model of retinal degeneration. (20209167)
2010
22
Biochemical analysis of phenotypic diversity associated with mutations in codon 244 of the retinal degeneration slow gene. (20055437)
2010
23
Non-invasive stem cell therapy in a rat model for retinal degeneration and vascular pathology. (20169166)
2010
24
Urocortin 2 protects against retinal degeneration following bilateral common carotid artery occlusion in the rat. (19429103)
2009
25
The severity of retinal degeneration in Rp1h gene-targeted mice is dependent on genetic background. (19060274)
2009
26
A computational model of perceptual fill-in following retinal degeneration. (18199820)
2008
27
Characterization of phototransduction gene knockouts revealed important signaling networks in the light-induced retinal degeneration. (18354737)
2008
28
New drug therapy for retinal degeneration]. (18240599)
2008
29
Endothelin receptors: do they have a role in retinal degeneration? (18188970)
2008
30
Amyloid-beta deposits lead to retinal degeneration in a mouse model of Alzheimer disease. (18566467)
2008
31
Mutations in splicing factor PRPF3, causing retinal degeneration, form detrimental aggregates in photoreceptor cells. (17517693)
2007
32
Novel TULP1 mutation causing Leber congenital amaurosis or early onset retinal degeneration. (17962469)
2007
33
Changes in select redox proteins of the retinal pigment epithelium in age-related macular degeneration. (17280640)
2007
34
DPATJ plays a role in retinal morphogenesis and protects against light-dependent degeneration of photoreceptor cells in the Drosophila eye. (16245332)
2006
35
Identification of 4-hydroxynonenal-modified retinal proteins induced by photooxidative stress prior to retinal degeneration. (17157187)
2006
36
Long anterior lens zonules in late-onset retinal degeneration (L-ORD). (16376663)
2005
37
Nuclear receptor NR2E3 gene mutations distort human retinal laminar architecture and cause an unusual degeneration. (15229190)
2004
38
Activated microglia in human retinitis pigmentosa, late-onset retinal degeneration, and age-related macular degeneration. (12634111)
2003
39
Organization of the human IMPG2 gene and its evaluation as a candidate gene in age-related macular degeneration and other retinal degenerative disorders. (11726612)
2001
40
Correction of ornithine accumulation prevents retinal degeneration in a mouse model of gyrate atrophy of the choroid and retina. (10655512)
2000
41
Disruption of retinoid-related orphan receptor beta changes circadian behavior, causes retinal degeneration and leads to vacillans phenotype in mice. (9670004)
1998
42
A mammalian homologue of the Drosophila retinal degeneration B gene: implications for the evolution of phototransduction mechanisms. (9680295)
1997
43
A rare case of McCune-Albright syndrome associated with glaucoma retinal degeneration and arteriovenous malformations. (9091380)
1996
44
Acanthocytosis, retinitis pigmentosa, and pallidal degeneration: a report of three patients, including the second reported case with hypoprebetalipoproteinemia (HARP syndrome). (7898702)
1995
45
Isolation and characterization of the Drosophila retinal degeneration B (rdgB) gene. (1903119)
1991
46
Photoreceptor peripherin is the normal product of the gene responsible for retinal degeneration in the rds mouse. (1992463)
1991
47
The influence of refractive error and lattice degeneration on the incidence of retinal detachment. (2562517)
1989
48
Peripheral microcystoid retinal degeneration and retinoschisis. (7119344)
1982
49
Lipoatrophic diabetes: a new variant characterized by tapeto-retinal degeneration, late onset generalized lipoatrophy, insulin-resistant hyperglycemia and hyperlipidemia. (5051798)
1972
50
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

Genetic Variations for Retinal Degeneration

About this section

Expression for genes affiliated with Retinal Degeneration

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section

Compounds for genes affiliated with Retinal Degeneration

About this section
Sources:
44Novoseek, 24HMDB
See all sources

Compounds related to Retinal Degeneration according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1phosphatidylinositol-3,4,5-trisphosphate44 2411.7PITPNM1, PITPNM2, PITPNM3, PITPNC1

GO Terms for genes affiliated with Retinal Degeneration

About this section
Sources:
16Gene Ontology
See all sources

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Retinal Degeneration

About this section
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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet