R2
MCID: RNG015
MIFTS: 26

Ring Chromosome 2 (R2)

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

Aliases & Classifications for Ring Chromosome 2

MalaCards integrated aliases for Ring Chromosome 2:

Name: Ring Chromosome 2 52 58
Ring 2 52 58
Ring Chromosome 2 Syndrome 58
Chromosome 2 Ring 52
R2 52

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q93.2
Orphanet 58 ORPHA96171

Summaries for Ring Chromosome 2

NIH Rare Diseases : 52 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 muscular dystrophy, limb-girdle, autosomal recessive 2 and hemosiderosis. The drugs Dapivirine and Antiviral 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 182)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, limb-girdle, autosomal recessive 2 11.4
2 hemosiderosis 10.7
3 rare hereditary hemochromatosis 10.7
4 thalassemia 10.5
5 ring chromosome 10.3
6 gastric cancer 10.3
7 herpes simplex 10.3
8 chlamydia 10.2
9 sickle cell disease 10.2
10 beta-thalassemia 10.2
11 siderosis 10.2
12 hemochromatosis, type 1 10.1
13 liver disease 10.1
14 fatty liver disease 10.1
15 rapidly involuting congenital hemangioma 10.1
16 migraine with or without aura 1 10.0
17 thrombophilia due to activated protein c resistance 10.0
18 lung cancer 10.0
19 nasopharyngeal carcinoma 10.0
20 human immunodeficiency virus type 1 10.0
21 fatty liver disease, nonalcoholic 1 10.0
22 non-alcoholic fatty liver disease 10.0
23 pre-eclampsia 10.0
24 pertussis 10.0
25 hepatitis b 10.0
26 hepatitis d 10.0
27 glioma 10.0
28 glial tumor 10.0
29 microcephaly 10.0
30 alzheimer disease 10.0
31 bladder cancer 10.0
32 burkitt lymphoma 10.0
33 breast cancer 10.0
34 colorectal cancer 10.0
35 hepatocellular carcinoma 10.0
36 hair whorl 10.0
37 renal cell carcinoma, nonpapillary 10.0
38 ovarian cancer 10.0
39 rheumatoid arthritis 10.0
40 small cell cancer of the lung 10.0
41 thrombophilia due to thrombin defect 10.0
42 suppressor of tumorigenicity 3 10.0
43 pancreatic cancer 10.0
44 creatinine clearance quantitative trait locus 10.0
45 myocardial infarction 10.0
46 pulmonary hypertension, primary, 2 10.0
47 epidemic typhus 10.0
48 marginal zone b-cell lymphoma 10.0
49 follicular lymphoma 10.0
50 cerebral artery occlusion 10.0

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 Antiviral Agents Phase 1
3 Anti-HIV Agents Phase 1
4 Anti-Infective Agents Phase 1
5 Anti-Retroviral 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:

40
Heart, Skeletal Muscle, Liver, Eye, Skin, Brain, Retina

Publications for Ring Chromosome 2

Articles related to Ring Chromosome 2:

(show top 50) (show all 442)
# Title Authors PMID Year
1
Flavonoids from Scutellaria baicalensis inhibit senescence-associated secretory phenotype production by interrupting IκBζ/C/EBPβ pathway: Inhibition of age-related inflammation. 61
32554301 2020
2
Development of an analytical method for determination of total ethofumesate residues in foods by gas chromatography-tandem mass spectrometry. 61
31927207 2020
3
Hemolytic and Antimicrobial Activities of a Series of Cationic Amphiphilic Copolymers Comprised of Same Centered Comonomers with Thiazole Moieties and Polyethylene Glycol Derivatives. 61
32331281 2020
4
Analysis of skin dose distribution for the prediction of severe radiation dermatitis in head and neck squamous cell carcinoma patients treated with concurrent chemo-radiotherapy. 61
31682308 2020
5
Electrophysiological and Structural Changes in Chinese Patients with LHON. 61
32318281 2020
6
Conjugation of 4-aminosalicylate with thiazolinones afforded non-cytotoxic potent in vitro and in vivo anti-inflammatory hybrids. 61
31677858 2020
7
Fourier Analysis of Corneal Irregular Astigmatism After Small Incision Lenticule Extraction and Comparison to Femtosecond Laser-Assisted Laser In Situ Keratomileusis. 61
31232744 2019
8
Longitudinal changes in outer nuclear layer thickness in soft drusen and reticular pseudodrusen. 61
30883919 2019
9
Solvent-Induced Cluster-to-Cluster Transformation of Homoleptic Gold(I) Thiolates between Catenane and Ring-in-Ring Structures. 61
31486262 2019
10
The Diagnostic Utility of Multifocal Electroretinography in Detecting Chloroquine and Hydroxychloroquine Retinal Toxicity. 61
31078540 2019
11
Effects of Macuprev® Supplementation in Age-Related Macular Degeneration: A Double-Blind Randomized Morpho-Functional Study Along 6 Months of Follow-Up. 61
31243641 2019
12
Comparison of Fundus-Guided Microperimetry and Multifocal Electroretinography for Evaluating Hydroxychloroquine Maculopathy. 61
31602344 2019
13
The Structural Determinants Accounting for the Broad Substrate Specificity of the Quorum Quenching Lactonase GcL. 61
30864300 2019
14
Vaginal Estrogen for the Prevention of Recurrent Urinary Tract Infection in Postmenopausal Women: A Randomized Clinical Trial. 61
31232721 2019
15
Surgical Approach for Hypoplastic Mirror Circumflex Aortic Arch. 61
30359593 2019
16
Airway Exposure to Modified Multi-walled Carbon Nanotubes Perturbs Cardiovascular Adenosinergic Signaling in Mice. 61
30382549 2019
17
Aromatic Bromination Abolishes the Psychomotor Features and Pro-social Responses of MDMA ("Ecstasy") in Rats and Preserves Affinity for the Serotonin Transporter (SERT). 61
30873030 2019
18
Comparison of ring 1 parameters in 37-segment multifocal electroretinography between onset and offset conditions of ring 2 to 4 in normal subjects. 61
30662843 2019
19
Influence of standard corneal cross-linking in keratoconus patients on macular profile. 61
30555966 2018
20
Convergent Synthesis of Taxol Skeleton via Decarbonylative Radical Coupling Reaction. 61
30452272 2018
21
Retention Force and Wear Characteristics of three Attachment Systems after Dislodging Cycles. 61
30517481 2018
22
[Dynamic features of tumefactive demyelinating lesions in different clinical stages by contrast-enhanced magnetic resonance imaging]. 61
30481901 2018
23
Mechanistic Insights into Homogeneous Electrocatalytic and Photocatalytic Hydrogen Evolution Catalyzed by High-Spin Ni(II) Complexes with S2N2-Type Tetradentate Ligands. 61
29847103 2018
24
Continuous dosing of a novel contraceptive vaginal ring releasing Nestorone® and estradiol: pharmacokinetics from a dose-finding study. 61
29409834 2018
25
Effects of subtenon-injected autologous platelet-rich plasma on visual functions in eyes with retinitis pigmentosa: preliminary clinical results. 61
29546474 2018
26
Retinal dysfunction characterizes subtypes of dominant optic atrophy. 61
28926202 2018
27
Shuttling Rates, Electronic States, and Hysteresis in a Ring-in-Ring Rotaxane. 61
29632882 2018
28
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. 61
29963212 2018
29
[Comparison of Characteristics and Source Apportionment of Polycyclic Aromatic Hydrocarbons in Different Environmental Media in the Urban Area of Daqing City]. 61
29964591 2017
30
Assessment of macular function in patients with idiopathic Epiretinal membrane by multifocal Electroretinography: correlation with visual acuity and optical coherence tomography. 61
29183292 2017
31
Reaction Paths and Chemical Activation Reactions of 2-Methyl-5-Furanyl Radical with 3O2. 61
28862457 2017
32
Maximization of interventricular conduction time by means of quadripolar leads for cardiac resynchronization therapy. 61
28798987 2017
33
Molecular Mechanism and Genetic Determinants of Buprofezin Degradation. 61
28710269 2017
34
Kinetics and mechanism of 17β-estradiol chlorination in a pilot-scale water distribution systems. 61
28319744 2017
35
Electrophysiological assessment for early detection of retinal dysfunction in β-thalassemia major patients. 61
28361176 2017
36
Results of mitral valve repair with an adjustable annuloplasty ring 2 years after implantation. 61
28012074 2017
37
Phenothiazine-Sensitized Solar Cells: Effect of Number of Cyanocinnamic Acid Anchoring Groups on Dye-Sensitized Solar Cell Performance. 61
31961566 2017
38
A Short Covalent Synthesis of an All-Carbon-Ring [2]Rotaxane. 61
28437085 2017
39
Total Synthesis of Scholarisine K and Alstolactine A. 61
28358517 2017
40
Phloretin Exerts Anti-Tuberculosis Activity and Suppresses Lung Inflammation. 61
28117761 2017
41
Probing into the Molecular Requirements for Antioxidant Activity in Plant Phenolic Compounds Utilizing a Combined Strategy of PCA and ANN. 61
28042773 2017
42
Docking and molecular dynamics studies on triclosan derivatives binding to FabI. 61
28064376 2017
43
Mumps transmission in social networks: a cohort study. 61
28068914 2017
44
Incidence, Risk Factors and a Novel Prevention Technique for Inguinal Hernia after Robot-Assisted Radical Prostatectomy. 61
27498197 2017
45
Hydroxychloroquine for treatment of rheumatoid arthritis: multifocal electroretinogram and laser flare-cell photometry study. 61
28442886 2017
46
Photocatalytic Systems with Flavinium Salts: From Photolyase Models to Synthetic Tool for Cyclobutane Ring Opening. 61
27415962 2016
47
Sodium nitrate co-ingestion with protein does not augment postprandial muscle protein synthesis rates in older, type 2 diabetes patients. 61
27221118 2016
48
Physical Activity Performed in the Evening Increases the Overnight Muscle Protein Synthetic Response to Presleep Protein Ingestion in Older Men. 61
27281811 2016
49
A new tigliane-type diterpene from Euphorbia dracunculoides Lam. 61
26729599 2016
50
Evaluation of nitrate effects in the photodegradability of cyprodinil. Kinetics study and transformation products elucidation. 61
27137516 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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