MCID: RNG022
MIFTS: 29

Ring Chromosome 6

Categories: Rare diseases, Neuronal diseases, Fetal diseases

Aliases & Classifications for Ring Chromosome 6

MalaCards integrated aliases for Ring Chromosome 6:

Name: Ring Chromosome 6 49 55
Chromosome 6 Ring Syndrome 28 69
Ring 6 49 55
Ring Chromosome 6 Syndrome 55
Chromosome 6 Ring 49
R6 49

Classifications:



External Ids:

Orphanet 55 ORPHA1448
UMLS via Orphanet 70 C0795814 C2931604
MESH via Orphanet 42 C537763
ICD10 via Orphanet 33 Q93.2
UMLS 69 C0795814

Summaries for Ring Chromosome 6

MalaCards based summary : Ring Chromosome 6, also known as chromosome 6 ring syndrome, is related to thymoma, familial and acute promyelocytic leukemia, and has symptoms including microcephaly, epicanthus and hypertelorism. An important gene associated with Ring Chromosome 6 is FOXC1 (Forkhead Box C1). Affiliated tissues include bone and eye.

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:

55 31 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0000252
2 epicanthus 55 31 hallmark (90%) Very frequent (99-80%) HP:0000286
3 hypertelorism 55 31 hallmark (90%) Very frequent (99-80%) HP:0000316
4 macrotia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000400
5 wide nasal bridge 55 31 hallmark (90%) Very frequent (99-80%) HP:0000431
6 short neck 55 31 hallmark (90%) Very frequent (99-80%) HP:0000470
7 respiratory insufficiency 55 31 hallmark (90%) Very frequent (99-80%) HP:0002093
8 low posterior hairline 55 31 hallmark (90%) Very frequent (99-80%) HP:0002162
9 short stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0004322
10 short distal phalanx of finger 55 31 hallmark (90%) Very frequent (99-80%) HP:0009882
11 urogenital fistula 55 31 hallmark (90%) Very frequent (99-80%) HP:0100589

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 28

Anatomical Context for Ring Chromosome 6

MalaCards organs/tissues related to Ring Chromosome 6:

38
Bone, Eye

Publications for Ring Chromosome 6

Articles related to Ring Chromosome 6:

(show all 30)
# Title Authors Year
1
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
2
Aneurysmal bone cysts and pathologic fracture associated with supernumerary ring chromosome 6 in two unrelated patients. ( 29080333 )
2017
3
Periventricular heterotopia and white matter abnormalities in a girl with mosaic ring chromosome 6. ( 26213576 )
2015
4
Array-CGH characterization and genotype-phenotype analysis in a patient with a ring chromosome 6. ( 23398904 )
2013
5
Mosaic ring chromosome 6 in an infant with significant patent ductus arteriosus and multiple congenital anomalies. ( 22876064 )
2012
6
De novo ring chromosome 6 in a child with multiple congenital anomalies. ( 21063149 )
2010
7
Association between acute promyelocytic leukemia and ring chromosome 6. ( 19480938 )
2009
8
An epileptic case with mosaic ring chromosome 6 and 6q terminal deletion. ( 18485670 )
2008
9
Molecular characterization of a de novo ring chromosome 6 in a growth retarded but otherwise healthy woman. ( 18302251 )
2008
10
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
11
FOXC1 gene deletion is associated with eye anomalies in ring chromosome 6. ( 14708101 )
2004
12
Ring chromosome 6 in three fetuses: case reports, literature review, and implications for prenatal diagnosis. ( 11857558 )
2002
13
Ring chromosome 6 may represent a cytogenetic subgroup in benign thymoma. ( 12377419 )
2002
14
An 11-year-old boy with mosaic ring chromosome 6 and dilated aortic root. ( 11223855 )
2001
15
Prenatal diagnosis of ring chromosome 6 in a fetus with hydrocephalus. ( 8905901 )
1996
16
Prenatal diagnosis of ring chromosome 6. ( 8559761 )
1995
17
Ring chromosome 6 as the only change in a thymoma. ( 7685629 )
1993
18
Ring chromosome 6: clinical and cytogenetic behaviour. ( 2333874 )
1990
19
Ring chromosome 6: twenty years follow-up. ( 2288465 )
1990
20
Ring chromosome 6 and i(17q-) in a patient with acute promyelocytic leukemia. Absence of translocation t(15;17). ( 3165701 )
1988
21
Decreased superoxide dismutase-2 activity in a patient with ring chromosome 6. ( 3314511 )
1987
22
Erroneous diagnosis of fetal alcohol syndrome in a patient with ring chromosome 6. ( 3653144 )
1987
23
Ring chromosome 6: report of a patient and literature review. ( 3544845 )
1987
24
Aniridia, congenital glaucoma, and hydrocephalus in a male infant with ring chromosome 6. ( 3777023 )
1986
25
Ring chromosome 6: variability in phenotypic expression. ( 6660249 )
1983
26
Ring chromosome 6: case report and review. ( 7091194 )
1982
27
Ring chromosome 6: case report and review of literature. ( 511129 )
1979
28
Mental retardation and congenital malformations associated with a ring chromosome 6. ( 1139788 )
1975
29
Ring chromosome 6 in a malformed boy. ( 1204234 )
1975
30
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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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