R6
MCID: RNG022
MIFTS: 20

Ring Chromosome 6 (R6) malady

Fetal diseases category

Summaries for Ring Chromosome 6

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32MalaCards
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MalaCards: Ring Chromosome 6, also known as chromosome 6 ring, is related to hydrocephalus and thymoma, and has symptoms including terminal/third phalangeal bone of fingers hypoplasia, imperforate anus/rectum atresia/agenesis/recto-vaginal/vesical/perineal fistula and low hair line (back). An important gene associated with Ring Chromosome 6 is FOXC1 (forkhead box C1). Affiliated tissues include lung and bone.

Aliases & Classifications for Ring Chromosome 6

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Sources:
42NIH Rare Diseases, 48Orphanet, 35MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases


Aliases & Descriptions:

ring chromosome 6 42 48
chromosome 6 ring 42
ring 6 42
r6 42


External Ids:

MESH via Orphanet35 C537763
ICD10 via Orphanet26 Q93.2
UMLS via Orphanet61 C0795814, C2931604

Related Diseases for Ring Chromosome 6

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Sources:
17GeneCards, 18GeneDecks
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Graphical network of diseases related to Ring Chromosome 6:



Diseases related to ring chromosome 6

Clinical Features for Ring Chromosome 6

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Sources:
48Orphanet
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Symptoms:

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

Drugs & Therapeutics for Ring Chromosome 6

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Ring Chromosome 6

Drug clinical trials:

Search ClinicalTrials for Ring Chromosome 6

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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32MalaCards
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MalaCards organs/tissues related to Ring Chromosome 6:

32
Lung, Bone

Animal Models for Ring Chromosome 6 or affiliated genes

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Publications for Ring Chromosome 6

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Genetic Variations for Ring Chromosome 6

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Expression for genes affiliated with Ring Chromosome 6

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Sources:
1BioGPS, 15Gene 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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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet