R6
MCID: RNG022
MIFTS: 28

Ring Chromosome 6 (R6)

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

Aliases & Classifications for Ring Chromosome 6

MalaCards integrated aliases for Ring Chromosome 6:

Name: Ring Chromosome 6 52 58
Chromosome 6 Ring Syndrome 29 71
Ring 6 52 58
Ring Chromosome 6 Syndrome 58
Chromosome 6 Ring 52
R6 52

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

MESH via Orphanet 44 C537763
ICD10 via Orphanet 33 Q93.2
UMLS via Orphanet 72 C0795814 C2931604
Orphanet 58 ORPHA1448
UMLS 71 C0795814

Summaries for Ring Chromosome 6

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1448 Definition Ring chromosome 6 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterized by prenatal/postnatal growth failure, intellectual disability , developmental delay , craniofacial dysmorphism (incl. microcephaly , microphthalmia, epicanthus, low-set and malformed ears, broad and flat nasal bridge, full lips, micrognathia ), central nervous system anomalies (e.g. hydrocephalus , cortical atrophy, ventriculomegaly), short neck, and delayed bone age. Cardiac defects, limb anomalies, hip joint malformations, and seizures have also been reported. Visit the Orphanet disease page for more resources.

MalaCards based summary : Ring Chromosome 6, also known as chromosome 6 ring syndrome, is related to muscular dystrophy, limb-girdle, autosomal recessive 6 and ring chromosome. An important gene associated with Ring Chromosome 6 is FOXC1 (Forkhead Box C1). Affiliated tissues include bone, eye and retina, and related phenotypes are hypertelorism and short neck

Related Diseases for Ring Chromosome 6

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

(show all 49)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, limb-girdle, autosomal recessive 6 11.3
2 ring chromosome 10.6
3 huntington disease 10.4
4 microcephaly 10.3
5 spinocerebellar ataxia 7 10.1
6 myoclonic epilepsy of lafora 10.1
7 ataxia and polyneuropathy, adult-onset 10.1
8 autosomal dominant cerebellar ataxia 10.1
9 retinal degeneration 10.1
10 fundus dystrophy 10.1
11 progressive myoclonus epilepsy 10.1
12 progressive myoclonus epilepsy, lafora type 10.1
13 myoclonus epilepsy 10.1
14 myoclonus 10.1
15 inherited retinal disorder 10.1
16 alacrima, achalasia, and mental retardation syndrome 10.0
17 hydrocephalus 10.0
18 aniridia 1 10.0
19 epicanthus 10.0
20 hypertelorism 10.0
21 thymoma, familial 10.0
22 acute promyelocytic leukemia 10.0
23 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
24 microphthalmia 10.0
25 thymoma 10.0
26 chromosome 2q35 duplication syndrome 9.8
27 corpus callosum, agenesis of 9.8
28 hydrocephalus due to congenital stenosis of aqueduct of sylvius 9.8
29 axenfeld-rieger syndrome, type 3 9.8
30 aneurysmal bone cysts 9.8
31 patent ductus arteriosus 1 9.8
32 intraocular pressure quantitative trait locus 9.8
33 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 9.8
34 periventricular nodular heterotopia 9.8
35 fetal alcohol syndrome 9.8
36 alcohol-related birth defect 9.8
37 scoliosis 9.8
38 anterior segment dysgenesis 9.8
39 leukemia 9.8
40 axenfeld-rieger syndrome 9.8
41 ectropion 9.8
42 mixed type thymoma 9.8
43 47,xyy 9.8
44 cerebellar hypoplasia 9.8
45 chromosomal triplication 9.8
46 thymoma type ab 9.8
47 congenital ectropion uveae 9.8
48 congenital ectropion 9.8
49 dentinogenesis imperfecta type 2 9.7

Graphical network of the top 20 diseases related to Ring Chromosome 6:



Diseases related to Ring Chromosome 6

Symptoms & Phenotypes for Ring Chromosome 6

Human phenotypes related to Ring Chromosome 6:

58 31 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
2 short neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000470
3 respiratory insufficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0002093
4 macrotia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000400
5 wide nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000431
6 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
7 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
8 epicanthus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000286
9 low posterior hairline 58 31 hallmark (90%) Very frequent (99-80%) HP:0002162
10 urogenital fistula 58 31 hallmark (90%) Very frequent (99-80%) HP:0100589
11 short distal phalanx of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0009882

Drugs & Therapeutics for Ring Chromosome 6

Search Clinical Trials , NIH Clinical Center for Ring Chromosome 6

Genetic Tests for Ring Chromosome 6

Genetic tests related to Ring Chromosome 6:

# Genetic test Affiliating Genes
1 Chromosome 6 Ring Syndrome 29

Anatomical Context for Ring Chromosome 6

MalaCards organs/tissues related to Ring Chromosome 6:

40
Bone, Eye, Retina, Liver, Uterus, Myeloid

Publications for Ring Chromosome 6

Articles related to Ring Chromosome 6:

(show top 50) (show all 111)
# Title Authors PMID Year
1
Irregular influence of alkali metals on Cu-SAPO-34 catalyst for selective catalytic reduction of NOx with ammonia. 61
31901842 2020
2
Total Synthesis of Talatisamine. 61
31677324 2020
3
Macular sensitivity in patients with congenital stationary night-blindness. 61
30573500 2019
4
Impact of contact lens materials on the mfERG response of the human retina. 61
31571070 2019
5
Ring chromosome 6 in a child with anterior segment dysgenesis and review of its overlap with other FOXC1 deletion phenotypes. 61
30225942 2019
6
Large fatty acid-derived Aβ42 oligomers form ring-like assemblies. 61
30795679 2019
7
A child with intellectual disability and dysmorphism due to complex ring chromosome 6: identification of molecular mechanism with review of literature. 61
30305128 2018
8
Phosphorescence Tuning through Heavy Atom Placement in Unsymmetrical Difluoroboron β-Diketonate Materials. 61
29121425 2018
9
Noncentrosymmetric Cubic Cyanurate K6Cd3(C3N3O3)4 Containing Isolated Planar π-Conjugated (C3N3O3)3- Groups. 61
29235854 2018
10
Gray Matter Heterotopia, Mental Retardation, Developmental Delay, Microcephaly, and Facial Dysmorphisms in a Boy with Ring Chromosome 6: A 10-Year Follow-Up and Literature Review. 61
29656294 2018
11
Aneurysmal bone cysts and pathologic fracture associated with supernumerary ring chromosome 6 in two unrelated patients. 61
29080333 2017
12
What is the clinical significance of esophagogastric junction outflow obstruction? evaluation of 60 patients at a tertiary referral center. 61
28393437 2017
13
SYNTHESIS AND BIOLOGICAL EVALUATION OF SULFONAMIDE DERIVATIVES AS ANTIMICROBIAL AGENTS. 61
29513954 2017
14
Comparative 3D micro-CT and 2D histomorphometry analysis of dental implant osseointegration in the maxilla of minipigs. 61
28063250 2017
15
Molecular cytogenetic characterisation of a novel de novo ring chromosome 6 involving a terminal 6p deletion and terminal 6q duplication in the different arms of the same chromosome. 61
28344652 2017
16
Molecular characterization of a novel ring 6 chromosome using next generation sequencing. 61
27103944 2016
17
Measuring retinal blood flow in rats using Doppler optical coherence tomography without knowing eyeball axial length. 61
26328984 2015
18
Variation of polycyclic aromatic hydrocarbons in atmospheric PM2.5 during winter haze period around 2014 Chinese Spring Festival at Nanjing: Insights of source changes, air mass direction and firework particle injection. 61
25795988 2015
19
Treatment-related myelodysplastic syndrome in a child with acute myeloid leukemia and TPMT heterozygosity. 61
25000470 2015
20
Periventricular heterotopia and white matter abnormalities in a girl with mosaic ring chromosome 6. 61
26213576 2015
21
Design, synthesis and biological evaluation of novel pyrenyl derivatives as anticancer agents. 61
25462285 2015
22
Aging alters hepatic DNA hydroxymethylation, as measured by liquid chromatography/mass spectrometry. 61
25574465 2014
23
An optimized pyrimidinol multifunctional radical quencher. 61
24900738 2013
24
Array-CGH characterization and genotype-phenotype analysis in a patient with a ring chromosome 6. 61
23398904 2013
25
Improvement of retinal function in early age-related macular degeneration after lutein and zeaxanthin supplementation: a randomized, double-masked, placebo-controlled trial. 61
22835510 2012
26
Mosaic ring chromosome 6 in an infant with significant patent ductus arteriosus and multiple congenital anomalies. 61
22876064 2012
27
Wide 3-dimensional macular ganglion cell complex imaging with spectral-domain optical coherence tomography in glaucoma. 61
22695956 2012
28
The ring-chain tautomeric equilibria of selenium macrocyclic compounds: the isolation of the ring tautomer. 61
22362019 2012
29
Oritavancin: mechanism of action. 61
22431851 2012
30
Retinal thickness evaluation in healthy eyes from north-west Punjab through optical coherence tomography. 61
22166695 2011
31
Deoxyguanosine forms a bis-adduct with E,E-muconaldehyde, an oxidative metabolite of benzene: implications for the carcinogenicity of benzene. 61
21972945 2011
32
Pregnane steroidal glycosides and their cytostatic activities. 61
21147757 2011
33
Synthesis and biological evaluation of novel triptolide analogues for anticancer activity. 61
20833543 2010
34
De novo ring chromosome 6 in a child with multiple congenital anomalies. 61
21063149 2010
35
Changes in first- and second-order multifocal electroretinography in idiopathic macular hole and their correlations with macular hole diameter and visual acuity. 61
19672613 2010
36
Capsulorhexis contraction syndrome despite capsular tension ring implantation. 61
21110505 2010
37
Association between acute promyelocytic leukemia and ring chromosome 6. 61
19480938 2009
38
Management of Bartholin duct cysts and abscesses: a systematic review. 61
19445813 2009
39
A simple and high-sensitivity method for analysis of ubiquitination and polyubiquitination based on wheat cell-free protein synthesis. 61
19348673 2009
40
An epileptic case with mosaic ring chromosome 6 and 6q terminal deletion. 61
18485670 2008
41
New compounds obtained by evolution and oxidation of malvidin 3-O-glucoside in ethanolic medium. 61
18498167 2008
42
Multiple-sited amyloidosis in the upper aerodigestive tract: case report and literature review. 61
18661024 2008
43
Molecular characterization of a de novo ring chromosome 6 in a growth retarded but otherwise healthy woman. 61
18302251 2008
44
Oxidation of 5-methoxy-N,N-diisopropyltryptamine in rat liver microsomes and recombinant cytochrome P450 enzymes. 61
17980859 2008
45
Tiling resolution array comparative genomic hybridization analysis of a fibrosarcoma of bone. 61
17175386 2007
46
Broad-specificity immunoassays for sulfonamide detection: immunochemical strategy for generic antibodies and competitors. 61
16503608 2006
47
The effect of chemical surface treatments of different denture base resins on the shear bond strength of denture repair. 61
16126078 2005
48
Prenatal diagnosis of ring chromosome 6 in a fetus with cerebellar hypoplasia and partial agenesis of corpus callosum: case report and review of the literature. 61
16053913 2005
49
Evaluation of cast metallic posts reproduction according to its quantity and position inside the casting ring. 61
20944883 2005
50
In vitro investigation of antifungal activities of phenotypic variation Candida albicans strains against fluconazole, itraconazole and voriconazole. 61
16094296 2005

Variations for Ring Chromosome 6

Expression for Ring Chromosome 6

Search GEO for disease gene expression data for Ring Chromosome 6.

Pathways for Ring Chromosome 6

GO Terms for Ring Chromosome 6

Sources for Ring Chromosome 6

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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