R2
MCID: RNG015
MIFTS: 22

Ring Chromosome 2 (R2)

Categories: Ear diseases, Eye diseases, Fetal diseases, Immune diseases, Mental diseases, Neuronal diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Ring Chromosome 2

MalaCards integrated aliases for Ring Chromosome 2:

Name: Ring Chromosome 2 20 58
Ring 2 20 58
Ring Chromosome 2 Syndrome 58
Chromosome 2 Ring 20
R2 20

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q93.2
Orphanet 58 ORPHA96171

Summaries for Ring Chromosome 2

GARD : 20 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 ring chromosome and microcephaly. The drug Immunosuppressive Agents has been mentioned in the context of this disorder. Affiliated tissues include eye, skeletal muscle and retina.

Related Diseases for Ring Chromosome 2

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):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Immunosuppressive Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Ultrasonic Surgical Aspirator to Treat Deep Infrabony Defects: A New Flapless Minimally Invasive Approach Completed NCT03567161

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
Eye, Skeletal Muscle, Retina, Smooth Muscle, Small Intestine, Pancreas, Trachea

Publications for Ring Chromosome 2

Articles related to Ring Chromosome 2:

(show top 50) (show all 454)
# Title Authors PMID Year
1
Combined fluorescent measurements, parallel factor analysis and GC-mass spectrometry in evaluating the photodegradation of PAHS in freshwater systems. 61
33383250 2021
2
A novel technique to manage internal carotid artery injury in endoscopic endonasal skull base surgery in the premise of proximal and distal controls. 61
33738637 2021
3
Vaginal Estrogen for the Prevention of Recurrent Urinary Tract Infection in Postmenopausal Women: A Randomized Clinical Trial. 61
31232721 2021
4
Comparison of Ferguson and Gross herniotomy with Mitchell Banks' herniotomy in boys older than two years. 61
33437248 2021
5
Evaluation of Agonistic Activity of Fluorinated and Nonfluorinated Fentanyl Analogs on μ-Opioid Receptor Using a Cell-Based Assay System. 61
33518669 2021
6
[Chemical Biology Studies Using Vitamin A Analogs]. 61
33790122 2021
7
Assessment of Macular Function Following Internal Limiting Membrane Peeling With ILM Blue®. 61
33425497 2020
8
Choriocapillaris Flow Deficits and Treatment-Naïve Macular Neovascularization Secondary to Age-Related Macular Degeneration. 61
32902576 2020
9
Biotransformation of Methoxyflavones by Selected Entomopathogenic Filamentous Fungi. 61
32854359 2020
10
Synthesis and dopamine receptor pharmacological evaluations on ring C ortho halogenated 1-phenylbenzazepines. 61
32631525 2020
11
Flavonoids from Scutellaria baicalensis inhibit senescence-associated secretory phenotype production by interrupting IκBζ/C/EBPβ pathway: Inhibition of age-related inflammation. 61
32554301 2020
12
Development of an analytical method for determination of total ethofumesate residues in foods by gas chromatography-tandem mass spectrometry. 61
31927207 2020
13
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
14
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
15
Correlation between optical coherence tomography, multifocal electroretinogram findings and visual acuity in diabetic macular edema. 61
33078110 2020
16
Conjugation of 4-aminosalicylate with thiazolinones afforded non-cytotoxic potent in vitro and in vivo anti-inflammatory hybrids. 61
31677858 2020
17
Discovery and Development of Inflammatory Inhibitors from 2-Phenylchromonone (Flavone) Scaffolds. 61
32972343 2020
18
Influence of operator experience on bond strength of different adhesives to dentin. 61
33223638 2020
19
Electrophysiological and Structural Changes in Chinese Patients with LHON. 61
32318281 2020
20
Fourier Analysis of Corneal Irregular Astigmatism After Small Incision Lenticule Extraction and Comparison to Femtosecond Laser-Assisted Laser In Situ Keratomileusis. 61
31232744 2019
21
Longitudinal changes in outer nuclear layer thickness in soft drusen and reticular pseudodrusen. 61
30883919 2019
22
Solvent-Induced Cluster-to-Cluster Transformation of Homoleptic Gold(I) Thiolates between Catenane and Ring-in-Ring Structures. 61
31486262 2019
23
The Diagnostic Utility of Multifocal Electroretinography in Detecting Chloroquine and Hydroxychloroquine Retinal Toxicity. 61
31078540 2019
24
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
25
Comparison of Fundus-Guided Microperimetry and Multifocal Electroretinography for Evaluating Hydroxychloroquine Maculopathy. 61
31602344 2019
26
The Structural Determinants Accounting for the Broad Substrate Specificity of the Quorum Quenching Lactonase GcL. 61
30864300 2019
27
Surgical Approach for Hypoplastic Mirror Circumflex Aortic Arch. 61
30359593 2019
28
Airway Exposure to Modified Multi-walled Carbon Nanotubes Perturbs Cardiovascular Adenosinergic Signaling in Mice. 61
30382549 2019
29
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
30
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
31
Convergent Synthesis of Taxol Skeleton via Decarbonylative Radical Coupling Reaction. 61
30452272 2018
32
Influence of standard corneal cross-linking in keratoconus patients on macular profile. 61
30555966 2018
33
Retention Force and Wear Characteristics of three Attachment Systems after Dislodging Cycles. 61
30517481 2018
34
[Dynamic features of tumefactive demyelinating lesions in different clinical stages by contrast-enhanced magnetic resonance imaging]. 61
30481901 2018
35
Mechanistic Insights into Homogeneous Electrocatalytic and Photocatalytic Hydrogen Evolution Catalyzed by High-Spin Ni(II) Complexes with S2N2-Type Tetradentate Ligands. 61
29847103 2018
36
Continuous dosing of a novel contraceptive vaginal ring releasing Nestorone® and estradiol: pharmacokinetics from a dose-finding study. 61
29409834 2018
37
Effects of subtenon-injected autologous platelet-rich plasma on visual functions in eyes with retinitis pigmentosa: preliminary clinical results. 61
29546474 2018
38
Retinal dysfunction characterizes subtypes of dominant optic atrophy. 61
28926202 2018
39
Shuttling Rates, Electronic States, and Hysteresis in a Ring-in-Ring Rotaxane. 61
29632882 2018
40
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
41
[Comparison of Characteristics and Source Apportionment of Polycyclic Aromatic Hydrocarbons in Different Environmental Media in the Urban Area of Daqing City]. 61
29964591 2017
42
Assessment of macular function in patients with idiopathic Epiretinal membrane by multifocal Electroretinography: correlation with visual acuity and optical coherence tomography. 61
29183292 2017
43
Maximization of interventricular conduction time by means of quadripolar leads for cardiac resynchronization therapy. 61
28798987 2017
44
Reaction Paths and Chemical Activation Reactions of 2-Methyl-5-Furanyl Radical with 3O2. 61
28862457 2017
45
Molecular Mechanism and Genetic Determinants of Buprofezin Degradation. 61
28710269 2017
46
Kinetics and mechanism of 17β-estradiol chlorination in a pilot-scale water distribution systems. 61
28319744 2017
47
Electrophysiological assessment for early detection of retinal dysfunction in β-thalassemia major patients. 61
28361176 2017
48
Results of mitral valve repair with an adjustable annuloplasty ring 2 years after implantation. 61
28012074 2017
49
Phenothiazine-Sensitized Solar Cells: Effect of Number of Cyanocinnamic Acid Anchoring Groups on Dye-Sensitized Solar Cell Performance. 61
31961566 2017
50
A Short Covalent Synthesis of an All-Carbon-Ring [2]Rotaxane. 61
28437085 2017

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
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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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