R6
MCID: RNG022
MIFTS: 23

Ring Chromosome 6 (R6) malady

Categories: Rare diseases, Fetal diseases, Neuronal diseases

Aliases & Classifications for Ring Chromosome 6

Aliases & Descriptions for Ring Chromosome 6:

Name: Ring Chromosome 6 50 56
Chromosome 6 Ring 50 29
Ring 6 50
R6 50

Classifications:



External Ids:

Orphanet 56 ORPHA1448
UMLS via Orphanet 70 C0795814 C2931604
MESH via Orphanet 43 C537763
ICD10 via Orphanet 34 Q93.2

Summaries for Ring Chromosome 6

MalaCards based summary : Ring Chromosome 6, also known as chromosome 6 ring, is related to hydrocephalus and 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 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:

56 32 (show all 11)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly 56 32 Very frequent (99-80%) HP:0000252
2 epicanthus 56 32 Very frequent (99-80%) HP:0000286
3 hypertelorism 56 32 Very frequent (99-80%) HP:0000316
4 macrotia 56 32 Very frequent (99-80%) HP:0000400
5 wide nasal bridge 56 32 Very frequent (99-80%) HP:0000431
6 short neck 56 32 Very frequent (99-80%) HP:0000470
7 respiratory insufficiency 56 32 Very frequent (99-80%) HP:0002093
8 low posterior hairline 56 32 Very frequent (99-80%) HP:0002162
9 short stature 56 32 Very frequent (99-80%) HP:0004322
10 short distal phalanx of finger 56 32 Very frequent (99-80%) HP:0009882
11 urogenital fistula 56 32 Very frequent (99-80%) HP:0100589

Drugs & Therapeutics for Ring Chromosome 6

Interventional clinical trials:


id Name Status NCT ID Phase
1 A Safety Extension Study of DR-OXY-301 Completed NCT00782769 Phase 3

Search NIH Clinical Center for Ring Chromosome 6

Genetic Tests for Ring Chromosome 6

Genetic tests related to Ring Chromosome 6:

id Genetic test Affiliating Genes
1 Chromosome 6 Ring Syndrome 29

Anatomical Context for Ring Chromosome 6

MalaCards organs/tissues related to Ring Chromosome 6:

39
Eye

Publications for Ring Chromosome 6

Articles related to Ring Chromosome 6:

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