R6
MCID: RNG022
MIFTS: 29

Ring Chromosome 6 (R6) malady

Rare diseases, Fetal diseases, Neuronal diseases categories

Summaries for Ring Chromosome 6

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34MalaCards
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MalaCards: Ring Chromosome 6, also known as chromosome 6 ring, is related to hydrocephalus and leukemia, and has symptoms including short stature/dwarfism/nanism, respiratory distress/dyspnea/respiratory failure/lung volume reduction and imperforate anus/rectum atresia/agenesis/recto-vaginal/vesical/perineal fistula. An important gene associated with Ring Chromosome 6 is FOXC1 (forkhead box C1). Affiliated tissues include lung, bone and eye.

Aliases & Classifications for Ring Chromosome 6

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Sources:
44NIH Rare Diseases, 50Orphanet, 37MESH via Orphanet, 27ICD10 via Orphanet, 64UMLS via Orphanet
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Classifications:

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


Aliases & Descriptions:

ring chromosome 6 44 50
chromosome 6 ring 44
ring 6 44
r6 44


External Ids:

MESH via Orphanet37 C537763
ICD10 via Orphanet27 Q93.2
UMLS via Orphanet64 C0795814, C2931604

Related Diseases for Ring Chromosome 6

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Sources:
18GeneCards, 19GeneDecks
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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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Sources:
50Orphanet
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Symptoms:

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

Drugs & Therapeutics for Ring Chromosome 6

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Ring Chromosome 6

Drug clinical trials:

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Search NIH Clinical Center for Ring Chromosome 6

Search CenterWatch for Ring Chromosome 6

Genetic Tests for Ring Chromosome 6

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Anatomical Context for Ring Chromosome 6

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34MalaCards
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MalaCards organs/tissues related to Ring Chromosome 6:

34
Lung, Bone, Eye

Animal Models for Ring Chromosome 6 or affiliated genes

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Publications for Ring Chromosome 6

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53PubMed
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Articles related to Ring Chromosome 6:

(show all 27)
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
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
8
FOXC1 gene deletion is associated with eye anomalies in ring chromosome 6. (14708101)
2004
9
Ring chromosome 6 in three fetuses: case reports, literature review, and implications for prenatal diagnosis. (11857558)
2002
10
Ring chromosome 6 may represent a cytogenetic subgroup in benign thymoma. (12377419)
2002
11
An 11-year-old boy with mosaic ring chromosome 6 and dilated aortic root. (11223855)
2001
12
Prenatal diagnosis of ring chromosome 6 in a fetus with hydrocephalus. (8905901)
1996
13
Prenatal diagnosis of ring chromosome 6. (8559761)
1995
14
Ring chromosome 6 as the only change in a thymoma. (7685629)
1993
15
Ring chromosome 6: clinical and cytogenetic behaviour. (2333874)
1990
16
Ring chromosome 6: twenty years follow-up. (2288465)
1990
17
Ring chromosome 6 and i(17q-) in a patient with acute promyelocytic leukemia. Absence of translocation t(15;17). (3165701)
1988
18
Ring chromosome 6: report of a patient and literature review. (3544845)
1987
19
Erroneous diagnosis of fetal alcohol syndrome in a patient with ring chromosome 6. (3653144)
1987
20
Decreased superoxide dismutase-2 activity in a patient with ring chromosome 6. (3314511)
1987
21
Aniridia, congenital glaucoma, and hydrocephalus in a male infant with ring chromosome 6. (3777023)
1986
22
Ring chromosome 6: variability in phenotypic expression. (6660249)
1983
23
Ring chromosome 6: case report and review. (7091194)
1982
24
Ring chromosome 6: case report and review of literature. (511129)
1979
25
Ring chromosome 6 in a malformed boy. (1204234)
1975
26
Mental retardation and congenital malformations associated with a ring chromosome 6. (1139788)
1975
27
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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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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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
  • Antibodies

Sources for Ring Chromosome 6

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet