RCD1
MCID: RTN032
MIFTS: 24

Retinal Cone Dystrophy 1 (RCD1)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Retinal Cone Dystrophy 1

MalaCards integrated aliases for Retinal Cone Dystrophy 1:

Name: Retinal Cone Dystrophy 1 57 20 70
Retinal Cone Dystrophy-1 57 13
Rcd1 57 20
Cone Dystrophy, Autosomal Dominant 57
Cone Dystrophy Autosomal Dominant 20
Retinal Cone Degeneration 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant (?6q25-q26)


HPO:

31
retinal cone dystrophy 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 180020
MedGen 41 C1867326
UMLS 70 C1867326

Summaries for Retinal Cone Dystrophy 1

MalaCards based summary : Retinal Cone Dystrophy 1, also known as retinal cone dystrophy-1, is related to cone dystrophy and retinal degeneration. An important gene associated with Retinal Cone Dystrophy 1 is RCD1 (Retinal Cone Dystrophy 1). Affiliated tissues include eye and retina, and related phenotypes are photophobia and progressive visual loss

More information from OMIM: 180020

Related Diseases for Retinal Cone Dystrophy 1

Diseases in the Retinal Cone Dystrophy 3a family:

Retinal Cone Dystrophy 1 Retinal Cone Dystrophy 3b
Retinal Cone Dystrophy 4

Diseases related to Retinal Cone Dystrophy 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 cone dystrophy 10.9
2 retinal degeneration 10.2
3 autosomal recessive disease 10.0
4 retinitis pigmentosa 9.9
5 yemenite deaf-blind hypopigmentation syndrome 9.9
6 helix syndrome 9.9
7 neuroretinitis 9.9
8 teratocarcinoma 9.9
9 retinitis 9.9
10 cataract 9.9
11 night blindness 9.9

Graphical network of the top 20 diseases related to Retinal Cone Dystrophy 1:



Diseases related to Retinal Cone Dystrophy 1

Symptoms & Phenotypes for Retinal Cone Dystrophy 1

Human phenotypes related to Retinal Cone Dystrophy 1:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 photophobia 31 HP:0000613
2 progressive visual loss 31 HP:0000529
3 abnormal electroretinogram 31 HP:0000512
4 color vision defect 31 HP:0000551
5 retinal degeneration 31 HP:0000546
6 cone/cone-rod dystrophy 31 HP:0000548
7 bull's eye maculopathy 31 HP:0011504

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Eyes:
photophobia
diffuse retinal cone degeneration
progressive visual acuity loss
defective color vision
bull's eye macular lesion

Lab:
distinctive electroretinogram

Clinical features from OMIM®:

180020 (Updated 05-Apr-2021)

Drugs & Therapeutics for Retinal Cone Dystrophy 1

Search Clinical Trials , NIH Clinical Center for Retinal Cone Dystrophy 1

Genetic Tests for Retinal Cone Dystrophy 1

Anatomical Context for Retinal Cone Dystrophy 1

MalaCards organs/tissues related to Retinal Cone Dystrophy 1:

40
Eye, Retina

Publications for Retinal Cone Dystrophy 1

Articles related to Retinal Cone Dystrophy 1:

(show top 50) (show all 98)
# Title Authors PMID Year
1
Peripheral cone dystrophy: a variant of cone dystrophy with predominant dysfunction in the peripheral cone system. 57
15051206 2004
2
Rod and cone photoreceptor function in patients with cone dystrophy. 57
14691184 2004
3
Late onset dominant cone dystrophy with early blue cone involvement. 57
1583655 1992
4
Retinal cone dysfunction and mental retardation associated with a de novo balanced translocation 1;6(q44;q27). 57
3561951 1986
5
The cone degenerations. 57
4573331 1973
6
Progressive cone degeneration, dominantly inherited. 57
5660021 1968
7
Hereditary degeneration of the macula; occurring in five generations. 57
14361622 1955
8
CmRCD1 represses flowering by directly interacting with CmBBX8 in summer chrysanthemum. 61
33790241 2021
9
Physiological, biochemical, and transcriptional regulation in a leguminous forage Trifolium pratense L. responding to silver ions. 61
33773229 2021
10
Identification of RNAs bound by Hfq reveals widespread RNA partners and a sporulation regulator in the human pathogen Clostridioides difficile. 61
33629931 2021
11
Comprehensive evaluation of candidate reference genes for quantitative real-time PCR-based analysis in Caucasian clover. 61
33558610 2021
12
Weighted gene co-expression network analysis of the salt-responsive transcriptomes reveals novel hub genes in green halophytic microalgae Dunaliella salina. 61
33452393 2021
13
Short prolactin isoforms are expressed in photoreceptors of canine retinas undergoing retinal degeneration. 61
33432105 2021
14
αα-hub domains and intrinsically disordered proteins - a decisive combo. 61
33361159 2020
15
Dissecting the interaction of photosynthetic electron transfer with mitochondrial signalling and hypoxic response in the Arabidopsis rcd1 mutant. 61
32362253 2020
16
Deregulation of miRNAs-cMYC circuits is a key event in refractory celiac disease type-2 lymphomagenesis. 61
32420596 2020
17
Isolation and Identification of Ipomoea cairica (L.) Sweet Gene IcSRO1 Encoding a SIMILAR TO RCD-ONE Protein, Which Improves Salt and Drought Tolerance in Transgenic Arabidopsis. 61
32033046 2020
18
Primary Metabolite Responses to Oxidative Stress in Early-Senescing and Paraquat Resistant Arabidopsis thaliana rcd1 (Radical-Induced Cell Death1). 61
32180786 2020
19
Evolutionary conservation of the intrinsic disorder-based Radical-Induced Cell Death1 hub interactome. 61
31831797 2019
20
Arabidopsis SIMILAR TO RCD-ONE genes are ubiquitous and respond to multiple abiotic stresses through diverse signaling pathways. 61
31894110 2019
21
RNAi-mediated depletion of the NSL complex subunits leads to abnormal chromosome segregation and defective centrosome duplication in Drosophila mitosis. 61
31527906 2019
22
Characterization of an Intradiol Ring-Cleavage Dioxygenase Gene Associated With Abamectin Resistance in Tetranychus cinnabarinus (Acari: Tetranychidae). 61
31329893 2019
23
Arabidopsis RCD1 coordinates chloroplast and mitochondrial functions through interaction with ANAC transcription factors. 61
30767893 2019
24
Arabidopsis downy mildew effector HaRxL106 suppresses plant immunity by binding to RADICAL-INDUCED CELL DEATH1. 61
30156022 2018
25
Maize similar to RCD1 gene induced by salt enhances Arabidopsis thaliana abiotic stress resistance. 61
30097269 2018
26
Exogenous allantoin increases Arabidopsis seedlings tolerance to NaCl stress and regulates expression of oxidative stress response genes. 61
29245127 2018
27
Involvement of Innate Immune System in Late Stages of Inherited Photoreceptor Degeneration. 61
29263354 2017
28
1H, 13C and 15N NMR chemical shift assignments of A. thaliana RCD1 RST. 61
28593560 2017
29
Strong upregulation of inflammatory genes accompanies photoreceptor demise in canine models of retinal degeneration. 61
28486508 2017
30
Reversible Chemical Dimerization by rCD1. 61
28063490 2017
31
Structures and Short Linear Motif of Disordered Transcription Factor Regions Provide Clues to the Interactome of the Cellular Hub Protein Radical-induced Cell Death1. 61
27881680 2017
32
No Silver Bullet - Canonical Poly(ADP-Ribose) Polymerases (PARPs) Are No Universal Factors of Abiotic and Biotic Stress Resistance of Arabidopsis thaliana. 61
28220129 2017
33
Comparison of ex vivo harvested and in vitro cultured materials from Echinococcus granulosus by measuring expression levels of five genes putatively involved in the development and maturation of adult worms. 61
27515372 2016
34
Serotonin modulates Arabidopsis root growth via changes in reactive oxygen species and jasmonic acid-ethylene signaling. 61
26864878 2016
35
AAV-mediated Gene Therapy Halts Retinal Degeneration in PDE6β-deficient Dogs. 61
26857842 2016
36
Photoreceptor proliferation and dysregulation of cell cycle genes in early onset inherited retinal degenerations. 61
26969498 2016
37
FAM161A and TTC8 are Differentially Expressed in Non-Allelelic Early Onset Retinal Degeneration. 61
26427412 2016
38
Refractory celiac disease. 61
26603931 2016
39
A genetic framework for H2O2 induced cell death in Arabidopsis thaliana. 61
26493993 2015
40
Reversible chemical dimerizer-induced recovery of PIP2 levels moves clathrin to the plasma membrane. 61
25840797 2015
41
Are solar UV-B- and UV-A-dependent gene expression and metabolite accumulation in Arabidopsis mediated by the stress response regulator RADICAL-INDUCED CELL DEATH1? 61
24689869 2015
42
Protein intrinsic disorder in Arabidopsis NAC transcription factors: transcriptional activation by ANAC013 and ANAC046 and their interactions with RCD1. 61
25348421 2015
43
A special member of the rice SRO family, OsSRO1c, mediates responses to multiple abiotic stresses through interaction with various transcription factors. 61
24337801 2014
44
Altered miRNA expression in canine retinas during normal development and in models of retinal degeneration. 61
24581223 2014
45
Transcriptomics and functional genomics of ROS-induced cell death regulation by RADICAL-INDUCED CELL DEATH1. 61
24550736 2014
46
The radical induced cell death protein 1 (RCD1) supports transcriptional activation of genes for chloroplast antioxidant enzymes. 61
25295044 2014
47
Disease resistance gene-induced growth inhibition is enhanced by rcd1 independent of defense activation in Arabidopsis. 61
23365132 2013
48
Trace gluten contamination may play a role in mucosal and clinical recovery in a subgroup of diet-adherent non-responsive celiac disease patients. 61
23448408 2013
49
Polymorphism at genes involved in salt tolerance in Arabidopsis thaliana (Brassicaceae). 61
23345415 2013
50
Up-regulation of tumor necrosis factor superfamily genes in early phases of photoreceptor degeneration. 61
24367709 2013

Variations for Retinal Cone Dystrophy 1

Expression for Retinal Cone Dystrophy 1

Search GEO for disease gene expression data for Retinal Cone Dystrophy 1.

Pathways for Retinal Cone Dystrophy 1

GO Terms for Retinal Cone Dystrophy 1

Sources for Retinal Cone Dystrophy 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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