R2
MCID: RNG015
MIFTS: 27

Ring Chromosome 2 (R2)

Categories: Eye diseases, Fetal diseases, Immune diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Ring Chromosome 2

Summaries for Ring Chromosome 2

NIH Rare Diseases : 53 Ring chromosome 2 is a very rare chromosome abnormality in which the ends of chromosome 2 join together to form a ring shape. The severity and symptoms associated with ring chromosome 2 vary from person to person. Slow growth, short stature and a small head size are common features, but people with ring chromosome 2 may otherwise be generally healthy with no major birth defects. Signs and symptoms present in some people may include failure to thrive, developmental delay, low muscle tone (hypotonia), distinctive facial features, skeletal abnormalities, and/or other birth defects involving the heart, genitals, or other parts of the body. Ring chromosome 2 typically is not inherited and occurs sporadically, during the formation of egg or sperm cells or shortly after the egg and sperm join together. Treatment for ring chromosome 2 depends on the signs and symptoms present in each person.

MalaCards based summary : Ring Chromosome 2, also known as ring 2, is related to hemosiderosis and rare hereditary hemochromatosis. The drugs Dapivirine and Anti-HIV Agents have been mentioned in the context of this disorder. Affiliated tissues include heart, skeletal muscle and liver.

Related Diseases for Ring Chromosome 2

Diseases in the Ring Chromosome family:

Ring Chromosome 14 Syndrome Ring Chromosome 1
Ring Chromosome 10 Ring Chromosome 11
Ring Chromosome 12 Ring Chromosome 13
Ring Chromosome 15 Ring Chromosome 16
Ring Chromosome 17 Ring Chromosome 18
Ring Chromosome 19 Ring Chromosome 2
Ring Chromosome 20 Ring Chromosome 21
Ring Chromosome 22 Ring Chromosome 3
Ring Chromosome 4 Ring Chromosome 5
Ring Chromosome 6 Ring Chromosome 7
Ring Chromosome 8 Ring Chromosome 9
Ring Chromosome Y Syndrome

Diseases related to Ring Chromosome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 178)
# Related Disease Score Top Affiliating Genes
1 hemosiderosis 10.6
2 rare hereditary hemochromatosis 10.6
3 thalassemia 10.5
4 gastric cancer 10.3
5 ring chromosome 10.3
6 herpes simplex 10.2
7 chlamydia 10.2
8 sickle cell disease 10.2
9 beta-thalassemia 10.1
10 siderosis 10.1
11 hemochromatosis, type 1 10.1
12 liver disease 10.1
13 rapidly involuting congenital hemangioma 10.1
14 migraine with or without aura 1 10.0
15 thrombophilia due to activated protein c resistance 10.0
16 lung cancer 10.0
17 nasopharyngeal carcinoma 10.0
18 human immunodeficiency virus type 1 10.0
19 fatty liver disease, nonalcoholic 1 10.0
20 pre-eclampsia 10.0
21 pertussis 10.0
22 hepatitis b 10.0
23 hepatitis d 10.0
24 fatty liver disease 10.0
25 glioma 10.0
26 glial tumor 10.0
27 microcephaly 10.0
28 alzheimer disease 9.9
29 breast cancer 9.9
30 colorectal cancer 9.9
31 hepatocellular carcinoma 9.9
32 hair whorl 9.9
33 renal cell carcinoma, nonpapillary 9.9
34 ovarian cancer 9.9
35 rheumatoid arthritis 9.9
36 small cell cancer of the lung 9.9
37 thrombophilia due to thrombin defect 9.9
38 suppressor of tumorigenicity 3 9.9
39 pancreatic cancer 9.9
40 creatinine clearance quantitative trait locus 9.9
41 coronary heart disease 1 9.9
42 pulmonary hypertension, primary, 2 9.9
43 epidemic typhus 9.9
44 non-alcoholic fatty liver disease 9.9
45 cerebral artery occlusion 9.9
46 typhoid fever 9.9
47 facial paralysis 9.9
48 glioblastoma multiforme 9.9
49 malignant glioma 9.9
50 movement disease 9.9

Graphical network of the top 20 diseases related to Ring Chromosome 2:



Diseases related to Ring Chromosome 2

Symptoms & Phenotypes for Ring Chromosome 2

Drugs & Therapeutics for Ring Chromosome 2

Drugs for Ring Chromosome 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dapivirine Investigational Phase 1 244767-67-7 208898
2 Anti-HIV Agents Phase 1
3 Antiviral Agents Phase 1
4 Anti-Retroviral Agents Phase 1
5 Anti-Infective Agents Phase 1
6 Immunosuppressive Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Double-Blind, Randomised, Placebo-Controlled Safety and Pharmacokinetic Trial in Healthy HIV-Negative Women to Assess Delivery of Dapivirine From the Matrix Vaginal Ring Containing 25 MG of Dapivirine Completed NCT02920827 Phase 1
2 Ultrasonic Surgical Aspirator to Treat Deep Infrabony Defects: A New Flapless Minimally Invasive Approach Completed NCT03567161
3 Modulation of the Visual Information Processing in the Human Parieto-Frontal Network as Studied by a Frequency Tagging Technique During Visuomotor Tracking Completed NCT00077038

Search NIH Clinical Center for Ring Chromosome 2

Genetic Tests for Ring Chromosome 2

Anatomical Context for Ring Chromosome 2

MalaCards organs/tissues related to Ring Chromosome 2:

41
Heart, Skeletal Muscle, Liver, Eye, Skin, Brain, Retina

Publications for Ring Chromosome 2

Articles related to Ring Chromosome 2:

(show top 50) (show all 433)
# Title Authors PMID Year
1
Effects of Macuprev® Supplementation in Age-Related Macular Degeneration: A Double-Blind Randomized Morpho-Functional Study Along 6 Months of Follow-Up. 38
31243641 2019
2
The Structural Determinants Accounting for the Broad Substrate Specificity of the Quorum Quenching Lactonase GcL. 38
30864300 2019
3
Fourier Analysis of Corneal Irregular Astigmatism After Small Incision Lenticule Extraction and Comparison to Femtosecond Laser-Assisted Laser In Situ Keratomileusis. 38
31232744 2019
4
Vaginal Estrogen for the Prevention of Recurrent Urinary Tract Infection in Postmenopausal Women: A Randomized Clinical Trial. 38
31232721 2019
5
The Diagnostic Utility of Multifocal Electroretinography in Detecting Chloroquine and Hydroxychloroquine Retinal Toxicity. 38
31078540 2019
6
Surgical Approach for Hypoplastic Mirror Circumflex Aortic Arch. 38
30359593 2019
7
Airway Exposure to Modified Multi-walled Carbon Nanotubes Perturbs Cardiovascular Adenosinergic Signaling in Mice. 38
30382549 2019
8
Longitudinal changes in outer nuclear layer thickness in soft drusen and reticular pseudodrusen. 38
30883919 2019
9
Comparison of ring 1 parameters in 37-segment multifocal electroretinography between onset and offset conditions of ring 2 to 4 in normal subjects. 38
30662843 2019
10
Aromatic Bromination Abolishes the Psychomotor Features and Pro-social Responses of MDMA ("Ecstasy") in Rats and Preserves Affinity for the Serotonin Transporter (SERT). 38
30873030 2019
11
Influence of standard corneal cross-linking in keratoconus patients on macular profile. 38
30555966 2018
12
Convergent Synthesis of Taxol Skeleton via Decarbonylative Radical Coupling Reaction. 38
30452272 2018
13
[Dynamic features of tumefactive demyelinating lesions in different clinical stages by contrast-enhanced magnetic resonance imaging]. 38
30481901 2018
14
Retention Force and Wear Characteristics of three Attachment Systems after Dislodging Cycles. 38
30517481 2018
15
Mechanistic Insights into Homogeneous Electrocatalytic and Photocatalytic Hydrogen Evolution Catalyzed by High-Spin Ni(II) Complexes with S2N2-Type Tetradentate Ligands. 38
29847103 2018
16
Continuous dosing of a novel contraceptive vaginal ring releasing Nestorone® and estradiol: pharmacokinetics from a dose-finding study. 38
29409834 2018
17
Effects of subtenon-injected autologous platelet-rich plasma on visual functions in eyes with retinitis pigmentosa: preliminary clinical results. 38
29546474 2018
18
Retinal dysfunction characterizes subtypes of dominant optic atrophy. 38
28926202 2018
19
Shuttling Rates, Electronic States, and Hysteresis in a Ring-in-Ring Rotaxane. 38
29632882 2018
20
Metabolism of α-PHP and α-PHPP in humans and the effects of alkyl chain lengths on the metabolism of α-pyrrolidinophenone-type designer drugs. 38
29963212 2018
21
[Comparison of Characteristics and Source Apportionment of Polycyclic Aromatic Hydrocarbons in Different Environmental Media in the Urban Area of Daqing City]. 38
29964591 2017
22
Assessment of macular function in patients with idiopathic Epiretinal membrane by multifocal Electroretinography: correlation with visual acuity and optical coherence tomography. 38
29183292 2017
23
Reaction Paths and Chemical Activation Reactions of 2-Methyl-5-Furanyl Radical with 3O2. 38
28862457 2017
24
Maximization of interventricular conduction time by means of quadripolar leads for cardiac resynchronization therapy. 38
28798987 2017
25
Molecular Mechanism and Genetic Determinants of Buprofezin Degradation. 38
28710269 2017
26
Kinetics and mechanism of 17β-estradiol chlorination in a pilot-scale water distribution systems. 38
28319744 2017
27
Electrophysiological assessment for early detection of retinal dysfunction in β-thalassemia major patients. 38
28361176 2017
28
Results of mitral valve repair with an adjustable annuloplasty ring 2 years after implantation. 38
28012074 2017
29
A Short Covalent Synthesis of an All-Carbon-Ring [2]Rotaxane. 38
28437085 2017
30
Total Synthesis of Scholarisine K and Alstolactine A. 38
28358517 2017
31
Phloretin Exerts Anti-Tuberculosis Activity and Suppresses Lung Inflammation. 38
28117761 2017
32
Probing into the Molecular Requirements for Antioxidant Activity in Plant Phenolic Compounds Utilizing a Combined Strategy of PCA and ANN. 38
28042773 2017
33
Docking and molecular dynamics studies on triclosan derivatives binding to FabI. 38
28064376 2017
34
Mumps transmission in social networks: a cohort study. 38
28068914 2017
35
Incidence, Risk Factors and a Novel Prevention Technique for Inguinal Hernia after Robot-Assisted Radical Prostatectomy. 38
27498197 2017
36
Hydroxychloroquine for treatment of rheumatoid arthritis: multifocal electroretinogram and laser flare-cell photometry study. 38
28442886 2017
37
Photocatalytic Systems with Flavinium Salts: From Photolyase Models to Synthetic Tool for Cyclobutane Ring Opening. 38
27415962 2016
38
Sodium nitrate co-ingestion with protein does not augment postprandial muscle protein synthesis rates in older, type 2 diabetes patients. 38
27221118 2016
39
A new tigliane-type diterpene from Euphorbia dracunculoides Lam. 38
26729599 2016
40
Physical Activity Performed in the Evening Increases the Overnight Muscle Protein Synthetic Response to Presleep Protein Ingestion in Older Men. 38
27281811 2016
41
Identification of a Fused-Ring 2'-Deoxyadenosine Adduct Formed in Human Cells Incubated with 1-Chloro-3-buten-2-one, a Potential Reactive Metabolite of 1,3-Butadiene. 38
27161607 2016
42
Quaternized Carboxymethyl Chitosan-Based Silver Nanoparticles Hybrid: Microwave-Assisted Synthesis, Characterization and Antibacterial Activity. 38
28335246 2016
43
Evaluation of nitrate effects in the photodegradability of cyprodinil. Kinetics study and transformation products elucidation. 38
27137516 2016
44
Diversity of sugar acceptor of glycosyltransferase 1 from Bacillus cereus and its application for glucoside synthesis. 38
26795959 2016
45
Hydrogel Ring for Topical Drug Delivery to the Ocular Posterior Segment. 38
26237665 2016
46
Incomplete Annular Pancreas with Ectopic Opening of the Pancreatic and Bile Ducts into the Pyloric Ring: First Report of a Rare Anomaly. 38
27721721 2016
47
Retinal and choroidal alterations in patients with anorexia nervosa without vision loss. 38
26424617 2016
48
[Osteosynthesis and cup revision in periprosthetic acetabulum fractures using a Kocher-Langenbeck approach]. 38
26475262 2016
49
Synthesis and reactivity of fluorenyl-tethered N-heterocyclic stannylenes. 38
26757790 2016
50
The effect of nutritional supplementation on the multifocal electroretinogram in healthy eyes. 38
26988845 2016

Variations for Ring Chromosome 2

Expression for Ring Chromosome 2

Search GEO for disease gene expression data for Ring Chromosome 2.

Pathways for Ring Chromosome 2

GO Terms for Ring Chromosome 2

Sources for Ring Chromosome 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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