R5
MCID: RNG021
MIFTS: 24

Ring Chromosome 5 (R5)

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

Aliases & Classifications for Ring Chromosome 5

MalaCards integrated aliases for Ring Chromosome 5:

Name: Ring Chromosome 5 53 59
Ring 5 53 59
Ring Chromosome 5 Syndrome 59
Chromosome 5 Ring 53
R5 53

Characteristics:

Orphanet epidemiological data:

59
ring chromosome 5 syndrome
Inheritance: Not applicable; Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

ICD10 via Orphanet 34 Q93.2
Orphanet 59 ORPHA251043

Summaries for Ring Chromosome 5

MalaCards based summary : Ring Chromosome 5, also known as ring 5, is related to human immunodeficiency virus type 1 and immune deficiency disease. The drugs Camptothecin and Antineoplastic Agents, Phytogenic have been mentioned in the context of this disorder. Affiliated tissues include thyroid, testes and liver.

Related Diseases for Ring Chromosome 5

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 5 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 46)
# Related Disease Score Top Affiliating Genes
1 human immunodeficiency virus type 1 10.9
2 immune deficiency disease 10.7
3 severe combined immunodeficiency 10.4
4 human immunodeficiency virus infectious disease 10.4
5 polykaryocytosis inducer 10.2
6 chickenpox 10.2
7 ring chromosome 10.2
8 hair whorl 10.2
9 pertussis 10.2
10 stomatitis 10.2
11 breast cancer 10.0
12 schistosoma mansoni infection, susceptibility/ 10.0
13 celiac disease 1 10.0
14 myoclonic epilepsy of lafora 10.0
15 fabry disease 10.0
16 yemenite deaf-blind hypopigmentation syndrome 10.0
17 autosomal recessive disease 10.0
18 myopia 10.0
19 optic neuritis 10.0
20 dementia 10.0
21 schistosomiasis 10.0
22 cholera 10.0
23 thrombocytopenia 10.0
24 neuritis 10.0
25 sensory peripheral neuropathy 10.0
26 vaccinia 10.0
27 combined t cell and b cell immunodeficiency 10.0
28 herpes zoster 10.0
29 progressive myoclonus epilepsy 10.0
30 viral infectious disease 10.0
31 encephalitis 10.0
32 progressive myoclonus epilepsy, lafora type 10.0
33 cytokine deficiency 10.0
34 myoclonus epilepsy 10.0
35 myoclonus 10.0
36 cri-du-chat syndrome 9.9
37 hypertelorism 9.8
38 leukemia, acute myeloid 9.8
39 dermatofibrosarcoma protuberans 9.8
40 myeloid leukemia 9.8
41 microcephaly 9.8
42 growth hormone deficiency 9.8
43 bone resorption disease 9.7
44 hypothyroidism 9.7
45 hyperthyroidism 9.7
46 dentinogenesis imperfecta type 2 9.7

Graphical network of the top 20 diseases related to Ring Chromosome 5:



Diseases related to Ring Chromosome 5

Symptoms & Phenotypes for Ring Chromosome 5

Drugs & Therapeutics for Ring Chromosome 5

Drugs for Ring Chromosome 5 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Camptothecin Experimental Phase 1 7689-03-4
2 Antineoplastic Agents, Phytogenic Phase 1
3 topoisomerase I inhibitors Phase 1
4 Topoisomerase Inhibitors Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phase I and Pharmacology Study of Camptothecin-20-O-Propionate Hydrate (CZ48) in Patients With Solid Tumors or Lymphoma Completed NCT00947739 Phase 1 Camptothecin-20-O-Propionate Hydrate (CZ48)

Search NIH Clinical Center for Ring Chromosome 5

Genetic Tests for Ring Chromosome 5

Anatomical Context for Ring Chromosome 5

MalaCards organs/tissues related to Ring Chromosome 5:

41
Thyroid, Testes, Liver, Cortex, Brain, Bone, Retina

Publications for Ring Chromosome 5

Articles related to Ring Chromosome 5:

(show top 50) (show all 126)
# Title Authors PMID Year
1
The Uroboros Theory of Life's Origin: 22-Nucleotide Theoretical Minimal RNA Rings Reflect Evolution of Genetic Code and tRNA-rRNA Translation Machineries. 38
31388859 2019
2
Petunidin, a B-ring 5'-O-Methylated Derivative of Delphinidin, Stimulates Osteoblastogenesis and Reduces sRANKL-Induced Bone Loss. 38
31181661 2019
3
Infants with esophageal atresia and right aortic arch: Characteristics and outcomes from the Midwest Pediatric Surgery Consortium. 38
30224238 2019
4
[Dynamic features of tumefactive demyelinating lesions in different clinical stages by contrast-enhanced magnetic resonance imaging]. 38
30481901 2018
5
Retinal dysfunction characterizes subtypes of dominant optic atrophy. 38
28926202 2018
6
Empirical mode decomposition processing to improve multifocal-visual-evoked-potential signal analysis in multiple sclerosis. 38
29677200 2018
7
Human ring chromosome registry for cases in the Chinese population: re-emphasizing Cytogenomic and clinical heterogeneity and reviewing diagnostic and treatment strategies. 38
29492108 2018
8
[Comparison of Characteristics and Source Apportionment of Polycyclic Aromatic Hydrocarbons in Different Environmental Media in the Urban Area of Daqing City]. 38
29964591 2017
9
Seasonal variation and potential source regions of PM2.5-bound PAHs in the megacity Beijing, China: Impact of regional transport. 38
28810202 2017
10
Electrophysiological assessment for early detection of retinal dysfunction in β-thalassemia major patients. 38
28361176 2017
11
What is the clinical significance of esophagogastric junction outflow obstruction? evaluation of 60 patients at a tertiary referral center. 38
28393437 2017
12
SIN-Dependent Dissociation of the SAD Kinase Cdr2 from the Cell Cortex Resets the Division Plane. 38
28162898 2017
13
Polycyclic aromatic hydrocarbons (PAHs) in water from three estuaries of China: Distribution, seasonal variations and ecological risk assessment. 38
27209122 2016
14
Predictors of Early Discontinuation of Effective Contraception by Teens at High Risk of Pregnancy. 38
26526036 2016
15
Eight new crystal structures of 5-(hydroxymethyl)uracil, 5-carboxyuracil and 5-carboxy-2-thiouracil: insights into the hydrogen-bonded networks and the predominant conformations of the C5-bound residues. 38
27146565 2016
16
A signal-to-noise-ratio-based analysis of multifocal visual-evoked potentials in multiple sclerosis risk assessment. 38
26463474 2016
17
The Multifocal On- and Off-Responses in the Human Diabetic Retina. 38
27187490 2016
18
Characterization of midazolam metabolism in locusts: the role of a CYP3A4-like enzyme in the formation of 1'-OH and 4-OH midazolam. 38
26207435 2016
19
Anticancer properties of novel 4-methylene-1,2-diphenylpyrazolidin-3-ones. 38
25832885 2015
20
Anti-MRSA activity of isoplagiochin-type macrocyclic bis(bibenzyl)s is mediated through cell membrane damage. 38
25999206 2015
21
Influence of chloroquine intake on the multifocal electroretinogram in patients with and without maculopathy. 38
25637045 2015
22
Effect of hairpin loop structure on reactivity, sequence preference and adduct orientation of a DNA-interactive pyrrolo[2,1-c][1,4]benzodiazepine (PBD) antitumour agent. 38
25733051 2015
23
Halogen bonding controls the regioselectivity of the deiodination of thyroid hormones and their sulfate analogues. 38
25487845 2015
24
Experimental and theoretical studies of quadrupolar oligothiophene-cored chromophores containing dimesitylboryl moieties as π-accepting end-groups: syntheses, structures, fluorescence, and one- and two-photon absorption. 38
25168267 2014
25
A road map to the internal carotid artery in expanded endoscopic endonasal approaches to the ventral cranial base. 38
24717685 2014
26
Chlorogenic acid supplementation improves multifocal electroretinography in patients with retinitis pigmentosa. 38
24431915 2014
27
Topography of retinal recovery processes in humans. 38
25349472 2014
28
Calysolins V-IX, resin glycosides from Calystegia soldanella and their antiviral activity toward herpes. 38
24390499 2014
29
Non-Fluoroscopic Transseptal Catheterization During Electrophysiology Procedures using a Remote Magnetic Navigation System. 38
28496914 2013
30
A β-enaminone-initiated multicomponent domino reaction for the synthesis of indoloquinolizines and benzoquinolizines from acyclic precursors. 38
23945996 2013
31
Clinical usefulness of binocular multifocal electroretinography in patients with monocular macular disease. 38
23908572 2013
32
Protein kinase inhibitor design by targeting the Asp-Phe-Gly (DFG) motif: the role of the DFG motif in the design of epidermal growth factor receptor inhibitors. 38
23611691 2013
33
Isolation and photoinduced conversion of 6-epi-stephacidins from Aspergillus taichungensis. 38
23550798 2013
34
Comparison of methods to measure corneal power for intraocular lens power calculation using a rotating Scheimpflug camera. 38
23403064 2013
35
Estimating leaf area index in Southeast Alaska: a comparison of two techniques. 38
24223718 2013
36
Ring autosomes: some unexpected findings. 38
24052730 2012
37
Structural effects on the pH-dependent fluorescence of naphthalenic derivatives and consequences for sensing/switching. 38
22752208 2012
38
Ring chromosome 5 in acute myeloid leukemia defined by whole-genome single nucleotide polymorphism array. 38
22779075 2012
39
Clinical and molecular cytogenetic studies in ring chromosome 5: report of a child with congenital abnormalities. 38
22193390 2012
40
Multifocal electroretinogram in normal emmetropic subjects: correlation with optical coherence tomography. 38
22218247 2012
41
[Characters of multifocal electroretinogram in different grades of diabetic macular edema]. 38
22169610 2011
42
[Nonpalpable testes: laparoscopy for inguinotomy]. 38
22295660 2011
43
Multifocal electroretinogram and central visual field testing in central areolar choroidal dystrophy. 38
20306439 2010
44
The anti-tumor effects of androstene steroids exhibit a strict structure-activity relationship dependent upon the orientation of the hydroxyl group on carbon-17. 38
19824892 2009
45
Unexpected hydrogen bond dynamics in imidazolium-based ionic liquids. 38
19852454 2009
46
1H NMR, 13C NMR and mass spectral studies of some Schiff bases derived from 3-amino-1,2,4-triazole. 38
19783202 2009
47
Balloon dilatational tracheostomy: initial experience with the Ciaglia Blue Dolphin method. 38
19448213 2009
48
Inhibition of Toxoplasma gondii and Plasmodium falciparum infections in vitro by NSC3852, a redox active antiproliferative and tumor cell differentiation agent. 38
18837587 2009
49
[Imaging diagnose and clinical meaning for easy neglect occult posterior pelvic ring injury]. 38
19143238 2008
50
Long-term follow-up of retinitis pigmentosa patients with multifocal electroretinography. 38
18566474 2008

Variations for Ring Chromosome 5

Expression for Ring Chromosome 5

Search GEO for disease gene expression data for Ring Chromosome 5.

Pathways for Ring Chromosome 5

GO Terms for Ring Chromosome 5

Sources for Ring Chromosome 5

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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