MCID: RNG022
MIFTS: 27

Ring Chromosome 6 malady

Categories: Rare diseases, Fetal diseases, Neuronal diseases

Aliases & Classifications for Ring Chromosome 6

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Sources:
45NIH Rare Diseases, 51Orphanet, 24GTR, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Ring Chromosome 6:

Name: Ring Chromosome 6 45 51
Chromosome 6 Ring 45 24
 
Ring 6 45
R6 45

Classifications:



External Ids:

Orphanet51 1448
ICD10 via Orphanet28 Q93.2
MESH via Orphanet37 C537763
UMLS via Orphanet66 C0795814, C2931604

Summaries for Ring Chromosome 6

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MalaCards based summary: Ring Chromosome 6, also known as chromosome 6 ring, is related to microscopic polyangiitis and charcot-marie-tooth disease, type 1b, and has symptoms including microcephaly, epicanthus and hypertelorism. An important gene associated with Ring Chromosome 6 is FOXC1 (Forkhead Box C1). Affiliated tissues include lung, bone and liver.

Related Diseases for Ring Chromosome 6

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Diseases in the Ring Chromosome Y family:

Ring Chromosome 14 Syndrome Ring Chromosome 1
Ring Chromosome 10 Ring Chromosome 11
Ring Chromosome 12 Ring Chromosome 13
Ring Chromosome 15 Ring Chromosome 16
Ring Chromosome 17 Ring Chromosome 18
Ring Chromosome 19 Ring Chromosome 2
Ring Chromosome 20 Ring Chromosome 21
Ring Chromosome 22 Ring Chromosome 3
Ring Chromosome 4 Ring Chromosome 5
ring chromosome 6 Ring Chromosome 7
Ring Chromosome 8 Ring Chromosome 9

Diseases related to Ring Chromosome 6 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 36)
idRelated DiseaseScoreTop Affiliating Genes
1microscopic polyangiitis10.4
2charcot-marie-tooth disease, type 1b10.0
3ovarian hyperstimulation syndrome10.0
4coronary artery disease10.0
5retinoblastoma10.0
6brain glioblastoma multiforme10.0
7charcot-marie-tooth disease10.0
8hepatitis10.0
9hepatitis b10.0
10artery disease10.0
11colitis10.0
12microscopic colitis10.0
13interstitial emphysema10.0
14thrombotic thrombocytopenic purpura10.0
15tooth disease10.0
16arcus senilis10.0
17chagas disease10.0
18necrotizing ulcerative gingivitis10.0
19hypogonadism10.0
20gastroenteritis10.0
21agammaglobulinemia10.0
22mycobacterium avium complex disease10.0
23glioblastoma multiforme10.0
24gingivitis10.0
25purpura10.0
26intraocular retinoblastoma10.0
27ophthalmoplegia10.0
28periodontitis10.0
29measles10.0
30subacute sclerosing panencephalitis10.0
31meningitis10.0
32sickle cell disease10.0
33glioblastoma10.0
34pontine hemorrhage10.0
35autosomal dominant progressive external ophthalmoplegia10.0
36pneumococcal meningitis10.0

Graphical network of the top 20 diseases related to Ring Chromosome 6:



Diseases related to ring chromosome 6

Symptoms for Ring Chromosome 6

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Symptoms:

 51 (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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Interventional clinical trials:

Search ClinicalTrials, 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:

33
Lung, Bone, Liver, Heart, Breast, Endothelial

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 28)
idTitleAuthorsYear
1
Increased reports of measles in a low endemic region during aA rubella outbreak in adult populations. (25841649)
2015
2
Amyloid precursor protein enhances Nav1.6 sodium channel cell surface expression. (25767117)
2015
3
Blood pressure levels in male carriers of Arg82Cys in CD300LG. (25314291)
2014
4
Single-nucleotide polymorphism rs41736 located in MET was significantly associated with prognosis of small cell lung cancer patients. (25416047)
2014
5
Authors' reply: Randomized clinical trial on the effect of fibrin sealant on latissimusa88dorsi donor-site seroma formationa88after breast reconstruction (Br j surg 2012; 99: 1381-1388). (24264794)
2013
6
Word-superiority in pure alexia. (22713414)
2013
7
Structural basis for I^-galactosidase associated with lysosomal disease]. (23649392)
2013
8
GPIHBP1, an endothelial cell transporter for lipoprotein lipase. (21844202)
2011
9
Hearing impairment in childhood bacterial meningitis is little relieved by dexamethasone or glycerol. (20008417)
2010
10
Neuropsychological assessment of attention in children with spina bifida. (19476646)
2009
11
Killing cancer cells by targeted drug-carrying phage nanomedicines. (18387177)
2008
12
Additional therapy for young children with spastic cerebral palsy: a randomised controlled trial. (17462166)
2007
13
Aryl-hydrocarbon receptor activation regulates constitutive androstane receptor levels in murine and human liver. (17596880)
2007
14
Volume retention in heart failure, nephrotic syndrome, and liver cirrhosis]. (17009041)
2006
15
Thrombophilia is significantly associated with severe preeclampsia: results of a large-scale, case-controlled study. (16246971)
2005
16
Mutations in components of the Wnt signaling pathway in adenoid cystic carcinoma. (15195113)
2004
17
Collagenous colitis: a long-term follow-up study. (10755251)
1999
18
Increased production of macrophage migration inhibitory factor by PBMCs of atopic dermatitis. (10482843)
1999
19
Epidermal growth factor receptor targeting. (16127627)
1999
20
Identification of two essential phosphorylated threonine residues in the catalytic domain of Mekk1. Indirect activation by Pak3 and protein kinase C. (9065412)
1997
21
Group A streptococcal bacteremia: the role of tumor necrosis factor in shock and organ failure. (8627025)
1996
22
Absence of linkage between familial neural tube defects and PAX3 gene. (7783169)
1995
23
Maternal serum screening for fetal Down's syndrome, a retrospective study. (7586574)
1995
24
The POU domain transcription factor Brn-2: elevated expression in malignant melanoma and regulation of melanocyte-specific gene expression. (7478537)
1995
25
DNA sequence of the coding region of the HLA-B44 gene. (3459708)
1986
26
Inverted papilloma of the nose and paranasal sinuses in childhood and adolescence. (3965827)
1985
27
An individual with Hb-Lepore-Baltimore- delta beta-thalassaemia in a Yugoslavian family. (1257702)
1976
28
Observations on pellagra in American prisoners of war in the Philippines. (20273815)
1946

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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet