R6
MCID: RNG022
MIFTS: 23

Ring Chromosome 6 (R6) malady

Categories: Rare diseases, Fetal diseases, Neuronal diseases

Aliases & Classifications for Ring Chromosome 6

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Sources:
27GTR, 31ICD10 via Orphanet, 40MESH via Orphanet, 48NIH Rare Diseases, 54Orphanet, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Ring Chromosome 6:

Name: Ring Chromosome 6 48 54
Chromosome 6 Ring 48 27
 
Ring 6 48
R6 48

Classifications:



External Ids:

Orphanet54 ORPHA1448
UMLS via Orphanet69 C0795814, C2931604
MESH via Orphanet40 C537763
ICD10 via Orphanet31 Q93.2

Summaries for Ring Chromosome 6

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MalaCards based summary: Ring Chromosome 6, also known as chromosome 6 ring, is related to hydrocephalus and leukemia, and has symptoms including Array, Array and Array. An important gene associated with Ring Chromosome 6 is FOXC1 (Forkhead Box C1). Affiliated tissues include eye.

Related Diseases for Ring Chromosome 6

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Graphical network of diseases related to Ring Chromosome 6:



Diseases related to ring chromosome 6

Symptoms & Phenotypes for Ring Chromosome 6

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Human phenotypes related to Ring Chromosome 6:

 54 64 (show all 11)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly64 54 Very frequent (99-80%) HP:0000252
2 epicanthus64 54 Very frequent (99-80%) HP:0000286
3 hypertelorism64 54 Very frequent (99-80%) HP:0000316
4 macrotia64 54 Very frequent (99-80%) HP:0000400
5 wide nasal bridge64 54 Very frequent (99-80%) HP:0000431
6 short neck64 54 Very frequent (99-80%) HP:0000470
7 respiratory insufficiency64 54 Very frequent (99-80%) HP:0002093
8 low posterior hairline64 54 Very frequent (99-80%) HP:0002162
9 short stature64 54 Very frequent (99-80%) HP:0004322
10 short distal phalanx of finger64 54 Very frequent (99-80%) HP:0009882
11 urogenital fistula64 54 Very frequent (99-80%) HP:0100589

Drugs & Therapeutics for Ring Chromosome 6

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Interventional clinical trials:

idNameStatusNCT IDPhase
1A Safety Extension Study of DR-OXY-301CompletedNCT00782769Phase 3

Search NIH Clinical Center for Ring Chromosome 6

Genetic Tests for Ring Chromosome 6

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Genetic tests related to Ring Chromosome 6:

id Genetic test Affiliating Genes
1 Chromosome 6 Ring Syndrome27

Anatomical Context for Ring Chromosome 6

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MalaCards organs/tissues related to Ring Chromosome 6:

36
Eye

Publications for Ring Chromosome 6

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Articles related to Ring Chromosome 6:

(show all 28)
idTitleAuthorsYear
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

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Expression for genes affiliated with Ring Chromosome 6

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

Pathways for genes affiliated with Ring Chromosome 6

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GO Terms for genes affiliated with Ring Chromosome 6

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Sources for Ring Chromosome 6

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet