R6
MCID: RNG022
MIFTS: 29

Ring Chromosome 6 (R6)

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Ring Chromosome 6

MalaCards integrated aliases for Ring Chromosome 6:

Name: Ring Chromosome 6 53 59
Chromosome 6 Ring Syndrome 29 73
Ring 6 53 59
Ring Chromosome 6 Syndrome 59
Chromosome 6 Ring 53
R6 53

Classifications:



External Ids:

Orphanet 59 ORPHA1448
UMLS via Orphanet 74 C0795814 C2931604
MESH via Orphanet 45 C537763
ICD10 via Orphanet 34 Q93.2
UMLS 73 C0795814

Summaries for Ring Chromosome 6

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1448Disease definitionRing 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 acute promyelocytic leukemia and hydrocephalus. An important gene associated with Ring Chromosome 6 is FOXC1 (Forkhead Box C1). Affiliated tissues include bone and eye, and related phenotypes are hypertelorism and short neck

Related Diseases for Ring Chromosome 6

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:

59 32 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
2 short neck 59 32 hallmark (90%) Very frequent (99-80%) HP:0000470
3 respiratory insufficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0002093
4 macrotia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000400
5 wide nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000431
6 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
7 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
8 epicanthus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000286
9 low posterior hairline 59 32 hallmark (90%) Very frequent (99-80%) HP:0002162
10 urogenital fistula 59 32 hallmark (90%) Very frequent (99-80%) HP:0100589
11 short distal phalanx of finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0009882

Drugs & Therapeutics for Ring Chromosome 6

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Safety Extension Study of DR-OXY-301 Completed NCT00782769 Phase 3 Oxybutinyn Vaginal Ring 4mg;Oxybutinyn Vaginal Ring 6mg

Search 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:

41
Bone, Eye

Publications for Ring Chromosome 6

Articles related to Ring Chromosome 6:

(show all 34)
# Title Authors Year
1
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. ( 29656294 )
2018
2
Ring chromosome 6 in a child with anterior segment dysgenesis and review of its overlap with other FOXC1 deletion phenotypes. ( 30225942 )
2018
3
A child with intellectual disability and dysmorphism due to complex ring chromosome 6: identification of molecular mechanism with review of literature. ( 30305128 )
2018
4
Aneurysmal bone cysts and pathologic fracture associated with supernumerary ring chromosome 6 in two unrelated patients. ( 29080333 )
2017
5
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. ( 28344652 )
2017
6
Periventricular heterotopia and white matter abnormalities in a girl with mosaic ring chromosome 6. ( 26213576 )
2015
7
Array-CGH characterization and genotype-phenotype analysis in a patient with a ring chromosome 6. ( 23398904 )
2013
8
Mosaic ring chromosome 6 in an infant with significant patent ductus arteriosus and multiple congenital anomalies. ( 22876064 )
2012
9
De novo ring chromosome 6 in a child with multiple congenital anomalies. ( 21063149 )
2010
10
Association between acute promyelocytic leukemia and ring chromosome 6. ( 19480938 )
2009
11
An epileptic case with mosaic ring chromosome 6 and 6q terminal deletion. ( 18485670 )
2008
12
Molecular characterization of a de novo ring chromosome 6 in a growth retarded but otherwise healthy woman. ( 18302251 )
2008
13
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. ( 16053913 )
2005
14
FOXC1 gene deletion is associated with eye anomalies in ring chromosome 6. ( 14708101 )
2004
15
Ring chromosome 6 in three fetuses: case reports, literature review, and implications for prenatal diagnosis. ( 11857558 )
2002
16
Ring chromosome 6 may represent a cytogenetic subgroup in benign thymoma. ( 12377419 )
2002
17
An 11-year-old boy with mosaic ring chromosome 6 and dilated aortic root. ( 11223855 )
2001
18
Prenatal diagnosis of ring chromosome 6 in a fetus with hydrocephalus. ( 8905901 )
1996
19
Prenatal diagnosis of ring chromosome 6. ( 8559761 )
1995
20
Ring chromosome 6 as the only change in a thymoma. ( 7685629 )
1993
21
Ring chromosome 6: twenty years follow-up. ( 2288465 )
1990
22
Ring chromosome 6: clinical and cytogenetic behaviour. ( 2333874 )
1990
23
Ring chromosome 6 and i(17q-) in a patient with acute promyelocytic leukemia. Absence of translocation t(15;17). ( 3165701 )
1988
24
Decreased superoxide dismutase-2 activity in a patient with ring chromosome 6. ( 3314511 )
1987
25
Erroneous diagnosis of fetal alcohol syndrome in a patient with ring chromosome 6. ( 3653144 )
1987
26
Ring chromosome 6: report of a patient and literature review. ( 3544845 )
1987
27
Aniridia, congenital glaucoma, and hydrocephalus in a male infant with ring chromosome 6. ( 3777023 )
1986
28
Ring chromosome 6: variability in phenotypic expression. ( 6660249 )
1983
29
Ring chromosome 6: case report and review. ( 7091194 )
1982
30
Ring chromosome 6: case report and review of literature. ( 511129 )
1979
31
Ring chromosome 6 in a child with minimal abnormalities. ( 517581 )
1979
32
Mental retardation and congenital malformations associated with a ring chromosome 6. ( 1139788 )
1975
33
Ring chromosome 6 in a malformed boy. ( 1204234 )
1975
34
Developmental abnormalities associated with a ring chromosome 6. ( 4774541 )
1973

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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