R6
MCID: RNG022
MIFTS: 29

Ring Chromosome 6 (R6) malady

Rare diseases, Fetal diseases, Neuronal diseases categories
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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 microcephaly, hypertelorism and epicanthic folds. An important gene associated with Ring Chromosome 6 is FOXC1 (forkhead box C1). Affiliated tissues include bone, lung and eye.

Aliases & Classifications for Ring Chromosome 6

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Sources:
42NIH Rare Diseases, 48Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet, 35MESH via Orphanet
See all sources

Ring Chromosome 6, Aliases & Descriptions:

Name: Ring Chromosome 6 42 48
Chromosome 6 Ring 42
 
Ring 6 42
R6 42


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases, Fetal diseases
Anatomical: Neuronal diseases


External Ids:

ICD10 via Orphanet26 Q93.2
UMLS via Orphanet63 C0795814, C2931604
MESH via Orphanet35 C537763

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 for Ring Chromosome 6

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Symptoms:

48 (show all 11)
  • microcephaly
  • hypertelorism
  • epicanthic folds
  • broad nasal root
  • long/large ear
  • short neck
  • terminal/third phalangeal bone of fingers hypoplasia
  • low hair line (back)
  • imperforate anus/rectum atresia/agenesis/recto-vaginal/vesical/perineal fistula
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • short stature/dwarfism/nanism

HPO human phenotypes related to Ring Chromosome 6:

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

Drugs & Therapeutics for Ring Chromosome 6

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Drug clinical trials:

Search ClinicalTrials for Ring Chromosome 6

Search NIH Clinical Center for Ring Chromosome 6

Genetic Tests for Ring Chromosome 6

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Anatomical Context for Ring Chromosome 6

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MalaCards organs/tissues related to Ring Chromosome 6:

32
Bone, Lung, Eye

Animal Models for Ring Chromosome 6 or affiliated genes

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Publications for Ring Chromosome 6

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Articles related to Ring Chromosome 6:

(show all 26)
idTitleAuthorsYear
1
Array-CGH characterization and genotype-phenotype analysis in a patient with a ring chromosome 6. (23398904)
2013
2
Mosaic ring chromosome 6 in an infant with significant patent ductus arteriosus and multiple congenital anomalies. (22876064)
2012
3
De novo ring chromosome 6 in a child with multiple congenital anomalies. (21063149)
2010
4
Association between acute promyelocytic leukemia and ring chromosome 6. (19480938)
2009
5
Molecular characterization of a de novo ring chromosome 6 in a growth retarded but otherwise healthy woman. (18302251)
2008
6
An epileptic case with mosaic ring chromosome 6 and 6q terminal deletion. (18485670)
2008
7
FOXC1 gene deletion is associated with eye anomalies in ring chromosome 6. (14708101)
2004
8
Ring chromosome 6 in three fetuses: case reports, literature review, and implications for prenatal diagnosis. (11857558)
2002
9
Ring chromosome 6 may represent a cytogenetic subgroup in benign thymoma. (12377419)
2002
10
An 11-year-old boy with mosaic ring chromosome 6 and dilated aortic root. (11223855)
2001
11
Prenatal diagnosis of ring chromosome 6 in a fetus with hydrocephalus. (8905901)
1996
12
Prenatal diagnosis of ring chromosome 6. (8559761)
1995
13
Ring chromosome 6 as the only change in a thymoma. (7685629)
1993
14
Ring chromosome 6: clinical and cytogenetic behaviour. (2333874)
1990
15
Ring chromosome 6: twenty years follow-up. (2288465)
1990
16
Ring chromosome 6 and i(17q-) in a patient with acute promyelocytic leukemia. Absence of translocation t(15;17). (3165701)
1988
17
Ring chromosome 6: report of a patient and literature review. (3544845)
1987
18
Erroneous diagnosis of fetal alcohol syndrome in a patient with ring chromosome 6. (3653144)
1987
19
Decreased superoxide dismutase-2 activity in a patient with ring chromosome 6. (3314511)
1987
20
Aniridia, congenital glaucoma, and hydrocephalus in a male infant with ring chromosome 6. (3777023)
1986
21
Ring chromosome 6: variability in phenotypic expression. (6660249)
1983
22
Ring chromosome 6: case report and review. (7091194)
1982
23
Ring chromosome 6: case report and review of literature. (511129)
1979
24
Ring chromosome 6 in a malformed boy. (1204234)
1975
25
Mental retardation and congenital malformations associated with a ring chromosome 6. (1139788)
1975
26
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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Expression patterns in normal tissues for genes affiliated with Ring Chromosome 6

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

Pathways for genes affiliated with Ring Chromosome 6

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Compounds for genes affiliated with Ring Chromosome 6

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GO Terms for genes affiliated with Ring Chromosome 6

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Products for genes affiliated with Ring Chromosome 6

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  • Antibodies
  • Proteins
  • Lysates

Sources for Ring Chromosome 6

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet