R5
MCID: RNG021
MIFTS: 23

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 52 58
Ring 5 52 58
Ring Chromosome 5 Syndrome 58
Chromosome 5 Ring 52
R5 52

Characteristics:

Orphanet epidemiological data:

58
ring chromosome 5 syndrome
Inheritance: Not applicable; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q93.2
Orphanet 58 ORPHA251043

Summaries for Ring Chromosome 5

MalaCards based summary : Ring Chromosome 5, also known as ring 5, is related to muscular dystrophy, limb-girdle, autosomal recessive 5 and human immunodeficiency virus type 1. The drugs Camptothecin and topoisomerase I inhibitors 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 50)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, limb-girdle, autosomal recessive 5 11.6
2 human immunodeficiency virus type 1 10.9
3 immune deficiency disease 10.7
4 severe combined immunodeficiency 10.4
5 human immunodeficiency virus infectious disease 10.4
6 chickenpox 10.3
7 ring chromosome 10.3
8 polykaryocytosis inducer 10.2
9 hair whorl 10.2
10 pertussis 10.2
11 herpes zoster 10.2
12 stomatitis 10.2
13 cri-du-chat syndrome 10.0
14 breast cancer 10.0
15 schistosoma mansoni infection, susceptibility/ 10.0
16 celiac disease 1 10.0
17 myoclonic epilepsy of lafora 10.0
18 fabry disease 10.0
19 yemenite deaf-blind hypopigmentation syndrome 10.0
20 joint laxity, short stature, and myopia 10.0
21 autosomal recessive disease 10.0
22 myopia 10.0
23 optic neuritis 10.0
24 dementia 10.0
25 schistosomiasis 10.0
26 cholera 10.0
27 thrombocytopenia 10.0
28 neuritis 10.0
29 sensory peripheral neuropathy 10.0
30 vaccinia 10.0
31 acquired immunodeficiency syndrome 10.0
32 progressive myoclonus epilepsy 10.0
33 viral infectious disease 10.0
34 encephalitis 10.0
35 progressive myoclonus epilepsy, lafora type 10.0
36 cytokine deficiency 10.0
37 myoclonus epilepsy 10.0
38 myoclonus 10.0
39 hypertelorism 9.8
40 leukemia, acute myeloid 9.8
41 dermatofibrosarcoma protuberans 9.8
42 myelodysplastic syndrome 9.8
43 microcephaly 9.8
44 myeloid leukemia 9.8
45 growth hormone deficiency 9.8
46 refractory cytopenia with multilineage dysplasia 9.8
47 bone resorption disease 9.7
48 hypothyroidism 9.7
49 hyperthyroidism 9.7
50 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 topoisomerase I 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:

40
Thyroid, Testes, Liver, Cortex, Retina, Bone, Brain

Publications for Ring Chromosome 5

Articles related to Ring Chromosome 5:

(show top 50) (show all 131)
# Title Authors PMID Year
1
Myelodysplastic syndromes in a pediatric patient with Cri du Chat syndrome with a ring chromosome 5. 61
32519173 2020
2
Impact of contact lens materials on the mfERG response of the human retina. 61
31571070 2020
3
The Uroboros Theory of Life's Origin: 22-Nucleotide Theoretical Minimal RNA Rings Reflect Evolution of Genetic Code and tRNA-rRNA Translation Machineries. 61
31388859 2019
4
Global Analysis of Macular Choriocapillaris Perfusion in Dry Age-Related Macular Degeneration using Swept-Source Optical Coherence Tomography Angiography. 61
31791062 2019
5
Enhancer DNA methylation: implications for gene regulation. 61
31551326 2019
6
A ruthenium-catalyzed free amine directed (5+1) annulation of anilines with olefins: diverse synthesis of phenanthridine derivatives. 61
31528937 2019
7
Petunidin, a B-ring 5'-O-Methylated Derivative of Delphinidin, Stimulates Osteoblastogenesis and Reduces sRANKL-Induced Bone Loss. 61
31181661 2019
8
Infants with esophageal atresia and right aortic arch: Characteristics and outcomes from the Midwest Pediatric Surgery Consortium. 61
30224238 2019
9
[Dynamic features of tumefactive demyelinating lesions in different clinical stages by contrast-enhanced magnetic resonance imaging]. 61
30481901 2018
10
Retinal dysfunction characterizes subtypes of dominant optic atrophy. 61
28926202 2018
11
Empirical mode decomposition processing to improve multifocal-visual-evoked-potential signal analysis in multiple sclerosis. 61
29677200 2018
12
Human ring chromosome registry for cases in the Chinese population: re-emphasizing Cytogenomic and clinical heterogeneity and reviewing diagnostic and treatment strategies. 61
29492108 2018
13
[Comparison of Characteristics and Source Apportionment of Polycyclic Aromatic Hydrocarbons in Different Environmental Media in the Urban Area of Daqing City]. 61
29964591 2017
14
Seasonal variation and potential source regions of PM2.5-bound PAHs in the megacity Beijing, China: Impact of regional transport. 61
28810202 2017
15
Electrophysiological assessment for early detection of retinal dysfunction in β-thalassemia major patients. 61
28361176 2017
16
What is the clinical significance of esophagogastric junction outflow obstruction? evaluation of 60 patients at a tertiary referral center. 61
28393437 2017
17
SIN-Dependent Dissociation of the SAD Kinase Cdr2 from the Cell Cortex Resets the Division Plane. 61
28162898 2017
18
Polycyclic aromatic hydrocarbons (PAHs) in water from three estuaries of China: Distribution, seasonal variations and ecological risk assessment. 61
27209122 2016
19
Predictors of Early Discontinuation of Effective Contraception by Teens at High Risk of Pregnancy. 61
26526036 2016
20
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. 61
27146565 2016
21
A signal-to-noise-ratio-based analysis of multifocal visual-evoked potentials in multiple sclerosis risk assessment. 61
26463474 2016
22
The Multifocal On- and Off-Responses in the Human Diabetic Retina. 61
27187490 2016
23
Characterization of midazolam metabolism in locusts: the role of a CYP3A4-like enzyme in the formation of 1'-OH and 4-OH midazolam. 61
26207435 2016
24
Anticancer properties of novel 4-methylene-1,2-diphenylpyrazolidin-3-ones. 61
25832885 2015
25
Anti-MRSA activity of isoplagiochin-type macrocyclic bis(bibenzyl)s is mediated through cell membrane damage. 61
25999206 2015
26
Influence of chloroquine intake on the multifocal electroretinogram in patients with and without maculopathy. 61
25637045 2015
27
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. 61
25733051 2015
28
Halogen bonding controls the regioselectivity of the deiodination of thyroid hormones and their sulfate analogues. 61
25487845 2015
29
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. 61
25168267 2014
30
A road map to the internal carotid artery in expanded endoscopic endonasal approaches to the ventral cranial base. 61
24717685 2014
31
Chlorogenic acid supplementation improves multifocal electroretinography in patients with retinitis pigmentosa. 61
24431915 2014
32
Calysolins V-IX, resin glycosides from Calystegia soldanella and their antiviral activity toward herpes. 61
24390499 2014
33
Topography of retinal recovery processes in humans. 61
25349472 2014
34
Non-Fluoroscopic Transseptal Catheterization During Electrophysiology Procedures using a Remote Magnetic Navigation System. 61
28496914 2013
35
A β-enaminone-initiated multicomponent domino reaction for the synthesis of indoloquinolizines and benzoquinolizines from acyclic precursors. 61
23945996 2013
36
Clinical usefulness of binocular multifocal electroretinography in patients with monocular macular disease. 61
23908572 2013
37
Isolation and photoinduced conversion of 6-epi-stephacidins from Aspergillus taichungensis. 61
23550798 2013
38
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. 61
23611691 2013
39
Comparison of methods to measure corneal power for intraocular lens power calculation using a rotating Scheimpflug camera. 61
23403064 2013
40
Estimating leaf area index in Southeast Alaska: a comparison of two techniques. 61
24223718 2013
41
Ring autosomes: some unexpected findings. 61
24052730 2012
42
Structural effects on the pH-dependent fluorescence of naphthalenic derivatives and consequences for sensing/switching. 61
22752208 2012
43
Ring chromosome 5 in acute myeloid leukemia defined by whole-genome single nucleotide polymorphism array. 61
22779075 2012
44
Clinical and molecular cytogenetic studies in ring chromosome 5: report of a child with congenital abnormalities. 61
22193390 2012
45
Multifocal electroretinogram in normal emmetropic subjects: correlation with optical coherence tomography. 61
22218247 2012
46
[Characters of multifocal electroretinogram in different grades of diabetic macular edema]. 61
22169610 2011
47
[Nonpalpable testes: laparoscopy for inguinotomy]. 61
22295660 2011
48
Multifocal electroretinogram and central visual field testing in central areolar choroidal dystrophy. 61
20306439 2010
49
The anti-tumor effects of androstene steroids exhibit a strict structure-activity relationship dependent upon the orientation of the hydroxyl group on carbon-17. 61
19824892 2009
50
Unexpected hydrogen bond dynamics in imidazolium-based ionic liquids. 61
19852454 2009

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 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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