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, Kidney, Bone marrow, Cortex, Testes, Brain, Pituitary, 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
Retinal degeneration increases susceptibility to myopia in mice. (24146540)
2013
2
Reply: Microcysts in the inner nuclear layer from optic atrophy are caused by retrograde trans-synaptic degeneration combined with vitreous traction on the retinal surface. (23872367)
2013
3
Correlation of OCT characteristics and retinal sensitivity in neovascular age-related macular degeneration in the course of monthly ranibizumab treatment. (23349430)
2013
4
Surgical treatment for neovascularized retinal pigment epithelial detachment in age-related macular degeneration. (23447804)
2013
5
Reprogramming of adult rod photoreceptors prevents retinal degeneration. (23319618)
2013
6
Cone survival and preservation of visual acuity in an animal model of retinal degeneration. (23551187)
2013
7
Systems pharmacology identifies drug targets for Stargardt disease-associated retinal degeneration. (24231350)
2013
8
Ceramide signaling in retinal degeneration. (22183377)
2012
9
Pharmacological enhancement of ex vivo gene therapy neuroprotection in a rodent model of retinal degeneration. (21691141)
2012
10
Dysmorphic photoreceptors in a P23H mutant rhodopsin model of retinitis pigmentosa are metabolically active and capable of regenerating to reverse retinal degeneration. (22323724)
2012
11
Retinal degeneration in the fly. (22183359)
2012
12
Preservation of retinotopic map in retinal degeneration. (22685713)
2012
13
The role of CCR1 expression in the retinal degeneration in rd mice. (21275605)
2011
14
Chronic kidney disease, early age-related macular degeneration, and peripheral retinal drusen. (22053834)
2011
15
Changes in physiological properties of rat ganglion cells during retinal degeneration. (21389304)
2011
16
TOPORS, implicated in retinal degeneration, is a cilia-centrosomal protein. (21159800)
2011
17
Tauroursodeoxycholic acid prevents retinal degeneration in transgenic P23H rats. (21508111)
2011
18
Molecular genetics of retinal degeneration: A Drosophila perspective. (21897116)
2011
19
Normoxic activation of hypoxia-inducible factors in photoreceptors provides transient protection against light-induced retinal degeneration. (21447692)
2011
20
Attainment of polarity promotes growth factor secretion by retinal pigment epithelial cells: relevance to age-related macular degeneration. (20228934)
2010
21
Later retinal degeneration following childhood surgical aphakia in a family with recessive CRYAB mutation (p.R56W). (20141356)
2010
22
Intravitreous delivery of the corticosteroid fluocinolone acetonide attenuates retinal degeneration in S334ter-4 rats. (20220055)
2010
23
Photoreceptor sensory cilia and inherited retinal degeneration. (20238021)
2010
24
Intense cyclic light-induced retinal degeneration in rats. (20142550)
2010
25
Impaired intracellular signaling may allow up-regulation of CTGF-synthesis and secondary peri-retinal fibrosis in human retinal pigment epithelial cells from patients with age-related macular degeneration. (20238043)
2010
26
Fishing for age-related visual system mutants: behavioral screening of retinal degeneration genes in zebrafish. (20298169)
2010
27
Calpain inhibitor protects cells against light-induced retinal degeneration. (20823194)
2010
28
Comparison of retinal degeneration in the normal goldfish and the megalophthalmic black moor goldfish after optic nerve transection and lens extraction. (19283596)
2009
29
Early postnatal enriched environment decreases retinal degeneration induced by monosodium glutamate treatment in rats. (19171125)
2009
30
A novel biomarker for retinal degeneration: vitreous body neurofilament proteins. (19771389)
2009
31
Evolving Wallerian degeneration after transient retinal ischemia in mice characterized by diffusion tensor imaging. (18187343)
2008
32
A missense mutation in the nuclear localization signal sequence of CERKL (p.R106S) causes autosomal recessive retinal degeneration. (18978954)
2008
33
Diagnostic ophthalmology. Retinal degeneration. (19183741)
2008
34
Preliminary results of gene therapy for retinal degeneration. (18441372)
2008
35
Endogenous glucocorticoids participate in retinal degeneration during continuous illumination. (18937116)
2008
36
Perinatal hypoxia induces subsequent retinal degeneration in the offspring of ovoviviparous fish, Xiphophorous maculates. (17760707)
2007
37
Myelin vacuolation, optic neuropathy and retinal degeneration after closantel overdosage in sheep and in a goat. (17270202)
2007
38
Retinal disease expression in Bardet-Biedl syndrome-1 (BBS1) is a spectrum from maculopathy to retina-wide degeneration. (17065520)
2006
39
The anion-selective pore of the bestrophins, a family of chloride channels associated with retinal degeneration. (16707793)
2006
40
Surmountable challenges in translating pigment epithelium-derived factor (PEDF) therapy from animal models to clinical trials for retinal degenerations. (16374323)
2005
41
Comparative analysis of transcriptional profiles between two apoptotic pathways of light-induced retinal degeneration. (15541899)
2004
42
The diagnosis of autosomal dominant late-onset retinal degeneration in two sisters. (12802359)
2003
43
Spinocerebellar ataxia type 7 without retinal degeneration: a case report. (12172062)
2002
44
Genomic organisation of the spinocerebellar ataxia type 7 (SCA7) gene responsible for autosomal dominant cerebellar ataxia with retinal degeneration. (10598805)
1999
45
Ultrastructural and biochemical analysis of sperm flagella from an infertile man with a rod-dominant retinal degeneration. (8543316)
1996
46
Growth factors in retinal diseases: proliferative vitreoretinopathy, proliferative diabetic retinopathy, and retinal degeneration. (1566240)
1992
47
Regional distribution of retinal degeneration in patients with the proline to histidine mutation in codon 23 of the rhodopsin gene. (1775314)
1991
48
Pigmentary retinal degeneration and Coats' disease: a case study. (3419781)
1988
49
A new mucolipidosis with psychomotor retardation, corneal clouding, and retinal degeneration. (169696)
1975
50
Familial association of central and peripheral retinal degeneration. (13890923)
1961

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:04232610.6ATXN1, ATXN7
3detection of stimulus involved in sensory perceptionGO:05090610.6PPEF1, PPEF2
4response to stimulusGO:05089610.6BBS10, RD3, PRCD
5negative regulation of insulin-like growth factor receptor signaling pathwayGO:04356910.3ATXN1, ATXN7

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

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:00551511.1PPEF2, DGKI, RP2, BBS7, BBS10, PPEF1
2phosphatidylinositol transporter activityGO:00852610.7PITPNM1, PITPNM3, PITPNC1
3lipid bindingGO:00828910.7PITPNM2, PITPNM3, PITPNC1
4manganese ion bindingGO:03014510.6PPEF1, PPEF2
5protein serine/threonine phosphatase activityGO:00472210.3PPEF1, 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