R8
MCID: RNG024
MIFTS: 26

Ring Chromosome 8 (R8)

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

Aliases & Classifications for Ring Chromosome 8

MalaCards integrated aliases for Ring Chromosome 8:

Name: Ring Chromosome 8 52 58
Chromosome 8 Ring 52 71
Ring 8 52 58
R8 52 17
Ring Chromosome 8 Syndrome 58
R(8) Syndrome 58

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

MESH via Orphanet 44 C537824
ICD10 via Orphanet 33 Q93.2
UMLS via Orphanet 72 C2931633
Orphanet 58 ORPHA1450
UMLS 71 C2931633

Summaries for Ring Chromosome 8

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1450 Definition Chromosome 8-derived supernumerary ring/marker is a rare chromosomal anomaly comprising variable parts of chromosome 8. The phenotype of mosaic or non-mosaic supernumerary r(8)/mar(8) ranges from almost normal to variable degrees of minor abnormalities, and growth and mental retardation overlapping with the well-known mosaic trisomy 8 syndrome (see this term). Visit the Orphanet disease page for more resources.

MalaCards based summary : Ring Chromosome 8, also known as chromosome 8 ring, is related to muscular dystrophy, limb-girdle, autosomal recessive 8 and ring chromosome. Affiliated tissues include myeloid, lymph node and thymus, and related phenotypes are intellectual disability and short nose

Related Diseases for Ring Chromosome 8

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

(show all 26)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, limb-girdle, autosomal recessive 8 11.4
2 ring chromosome 10.4
3 helix syndrome 10.3
4 hepatocellular carcinoma 10.2
5 kaposi sarcoma 10.2
6 small cell cancer of the lung 10.2
7 lung cancer 10.2
8 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.2
9 human herpesvirus 8 10.2
10 allergic asthma 10.2
11 posttransplant acute limbic encephalitis 10.2
12 microcephaly 10.1
13 chromosomal triplication 10.1
14 leukemia, acute myeloid 10.1
15 myeloid leukemia 10.0
16 hypotonia 10.0
17 hirschsprung disease 1 9.8
18 chromosome 2q35 duplication syndrome 9.8
19 myelofibrosis 9.8
20 hepatic veno-occlusive disease 9.8
21 pancytopenia 9.8
22 bartter disease 9.8
23 47,xyy 9.8
24 acute myeloblastic leukemia with maturation 9.8
25 mosaic trisomy 8 9.8
26 dentinogenesis imperfecta type 2 9.7

Graphical network of the top 20 diseases related to Ring Chromosome 8:



Diseases related to Ring Chromosome 8

Symptoms & Phenotypes for Ring Chromosome 8

Human phenotypes related to Ring Chromosome 8:

58 31 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 short nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0003196
3 anteverted nares 58 31 hallmark (90%) Very frequent (99-80%) HP:0000463
4 frontal bossing 58 31 hallmark (90%) Very frequent (99-80%) HP:0002007
5 low posterior hairline 58 31 hallmark (90%) Very frequent (99-80%) HP:0002162
6 epicanthus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000286
7 round ear 58 31 hallmark (90%) Very frequent (99-80%) HP:0100830
8 polyhydramnios 58 31 hallmark (90%) Very frequent (99-80%) HP:0001561
9 hydronephrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000126
10 high forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0000348
11 abnormality of the ureter 58 31 hallmark (90%) Very frequent (99-80%) HP:0000069
12 abnormal palate morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0000174
13 sloping forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0000340
14 deviation of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0004097

Drugs & Therapeutics for Ring Chromosome 8

Search Clinical Trials , NIH Clinical Center for Ring Chromosome 8

Genetic Tests for Ring Chromosome 8

Anatomical Context for Ring Chromosome 8

MalaCards organs/tissues related to Ring Chromosome 8:

40
Myeloid, Lymph Node, Thymus, Liver, Testis, Tongue, Trachea

Publications for Ring Chromosome 8

Articles related to Ring Chromosome 8:

(show top 50) (show all 75)
# Title Authors PMID Year
1
Monomolecular Dehydration of Ethanol into Ethylene over H-MOR Studied by Density Functional Theory. 61
32391457 2020
2
Template-induced Al distribution in MOR and enhanced activity in dimethyl ether carbonylation. 61
32374319 2020
3
Pedicled flap from the first dorsal branch of the proper palmar digital artery of the fingers: An anatomy study. 61
32408007 2020
4
Simulation study of a coincidence detection system for non-invasive determination of arterial blood time-activity curve measurements. 61
32383043 2020
5
Molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 8 associated with congenital hypoplasia of the tongue and review of the literature. 61
32127158 2020
6
Investigation of the Selective Production of Ethylene from Propylene Over Small-Pore Zeolites. 61
30486964 2019
7
Low-Income Texas Women's Experiences Accessing Their Desired Contraceptive Method at the First Postpartum Visit. 61
30506996 2018
8
Total Synthesis and Biological Evaluation of 19-Hydroxysarmentogenin-3 -O-α-l-rhamnoside, Trewianin, and Their Aglycons. 61
30284449 2018
9
"Lipoblastoma" has a nice ring to it. 61
29897891 2018
10
The m6A methylation perturbs the Hoogsteen pairing-guided incorporation of an oxidized nucleotide. 61
29308175 2017
11
Thiadiazoles: the appropriate pharmacological scaffolds with leishmanicidal and antimalarial activities: a review. 61
28868117 2017
12
Identification of potent virtual leads and ADME prediction of isoxazolidine podophyllotoxin derivatives as topoisomerase II and tubulin inhibitors. 61
28242581 2017
13
MYC Amplification in the Form of Ring Chromosomes 8 in Acute Myeloid Leukemia with t(11;16)(q13;p11.2). 61
29393095 2017
14
Synthesis and biological evaluation of novel propargylquinobenzothiazines and their derivatives as potential antiproliferative, anti-inflammatory, and anticancer agents. 61
27404955 2016
15
Deepening the Topology of the Translocator Protein Binding Site by Novel N,N-Dialkyl-2-arylindol-3-ylglyoxylamides. 61
26177193 2015
16
Heteroaromatic analogs of the resveratrol analog DMU-212 as potent anti-cancer agents. 61
26022840 2015
17
Rich structural chemistry in new alkali metal yttrium tellurites: three-dimensional frameworks of NaYTe4O10, KY(TeO3)2, RbY(TeO3)2, and a novel variant of hexagonal tungsten bronze, CsYTe3O8. 61
25517044 2015
18
Array-CGH and clinical findings in a patient with a small supernumerary r(8) mosaicism. 61
25365853 2014
19
Segmentation of the millipede trunk as suggested by a homeotic mutant with six extra pairs of gonopods. 61
24438178 2014
20
Persisting ring chromosomes detected by mFISH in lymphocytes of a cancer patient-a case report. 61
23792211 2013
21
Synthesis and photophysical properties of doubly β-to-β bridged cyclic Zn(II) porphyrin arrays. 61
23447497 2013
22
Visualization of uncorrelated, tandem symmetry mismatches in the internal genome packaging apparatus of bacteriophage T7. 61
23580619 2013
23
Ring chromosome 8 with mosaic trisomy 8 syndrome in an infant. 61
24551990 2013
24
Lifetime of the unpaired electron species in calf thymus DNA thin films induced by nitrogen and oxygen K-shell photoabsorption. 61
22616974 2012
25
Demonstration of osmotically dependent promotion of aerenchyma formation at different levels in the primary roots of rice using a 'sandwich' method and X-ray computed tomography. 61
22499856 2012
26
Parallactic movement beats binocularity in the presence of external visual noise. 61
22697215 2012
27
The roles of entropy and enthalpy in stabilizing ion-pairs at transition states in zeolite acid catalysis. 61
21870839 2012
28
Synthesis of 4-(3-biaryl)quinoline sulfones as potent liver X receptor agonists. 61
20382019 2010
29
Ring chromosome 8 and trisomy 8 in a patient with acute myeloid leukemia. 61
23100969 2009
30
Catalytic consequences of spatial constraints and acid site location for monomolecular alkane activation on zeolites. 61
19146372 2009
31
Mosaic ring chromosome 8: clinical and array-CGH findings in partial trisomy 8. 61
18924172 2008
32
Antitumor agents 260. New desmosdumotin B analogues with improved in vitro anticancer activity. 61
18473435 2008
33
A novel endoscopic suturing technique using a specially designed so-called "8-ring" in combination with resolution clips (with videos). 61
17945221 2007
34
Z-ring force and cell shape during division in rod-like bacteria. 61
17913889 2007
35
Pseudo-Bartter syndrome due to Hirschsprung disease in a neonate with an extra ring chromosome 8. 61
17853456 2007
36
TRIB1 overexpression in acute myeloid leukemia. 61
17574965 2007
37
Specificity of sites within eight-membered ring zeolite channels for carbonylation of methyls to acetyls. 61
17397162 2007
38
Monosomy 8 rescue gave cells with a normal karyotype in a mildly affected man with 46,XY,r(8) mosaicism. 61
16829350 2006
39
Cloning and functional characterization of two bacterial members of the NAT/NCS2 family in Escherichia coli. 61
16096267 2005
40
Human papillomaviruses in lymph node neck metastases of head and neck cancers. 61
15823814 2005
41
Evaluation of cast metallic posts reproduction according to its quantity and position inside the casting ring. 61
20944883 2005
42
E-ring 8-isoprostanes are agonists at EP2- and EP4-prostanoid receptors on human airway smooth muscle cells and regulate the release of colony-stimulating factors by activating cAMP-dependent protein kinase. 61
15528403 2005
43
Single protein molecular dynamics determined with ultra-high precision. 61
15494008 2004
44
Three-dimensional diffusion of non-sorbing species in porous sandstone: computer simulation based on X-ray microtomography using synchrotron radiation. 61
15358495 2004
45
Supernumerary ring chromosome 8: clinical and molecular cytogenetic characterization in a case report. 61
15378554 2004
46
Inherited ring chromosome 8 without loss of subtelomeric sequences. 61
15337475 2004
47
E-ring 8-isoprostanes inhibit ACh release from parasympathetic nerves innervating guinea-pig trachea through agonism of prostanoid receptors of the EP3-subtype. 61
14744812 2004
48
Synthesis and 5-HT1A/5-HT2A receptor activity of new N-[3-(4-phenylpiperazin-1-yl)-propyl] derivatives of 3-spiro-cyclohexanepyrrolidine-2,5-dione and 3-spiro-beta-tetralonepyrrolidine-2,5-dione. 61
14581713 2003
49
Potent antitumor activity of synthetic 1,2-Naphthoquinones and 1,4-Naphthoquinones. 61
12818681 2003
50
Aortic suspension (aortopexy) for severe tracheomalacia in infants and children. 61
12488172 2002

Variations for Ring Chromosome 8

Expression for Ring Chromosome 8

Search GEO for disease gene expression data for Ring Chromosome 8.

Pathways for Ring Chromosome 8

GO Terms for Ring Chromosome 8

Sources for Ring Chromosome 8

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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