Details of Disease

General Information of Disease (ID: DIS8WIDY)

Disease Name Type 2 collagenopathy
Synonyms collagen II; COL2A1; cartilage collagen; disease or disorder caused by mutation in COL2A1; collagenopathy type 2 alpha 1; COL2A1 disease or disorder
Definition Any disease or disorder in which the cause of the disease is a mutation in the COL2A1 gene.
Disease Hierarchy
DIS6SVEE: Syndromic disease
DIS4W06G: Collagenopathy
DISWD40R: Disease
DIS8I9FS: Hereditary disorder of connective tissue
DIS5Z8U6: Skeletal dysplasia
DIS8WIDY: Type 2 collagenopathy
Disease Identifiers
MONDO ID
MONDO_0022800
MESH ID
C535964
UMLS CUI
C2931073
MedGen ID
419326
Orphanet ID
93421

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
COL27A1 OTQ5VDRH moderate Biomarker [1]
PRSS2 OTOMVUWL moderate Biomarker [2]
ACAN OTUOCW8K Strong Biomarker [3]
MATN3 OTH9H74J Strong Genetic Variation [4]
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References

1 The expression and function of microRNAs in chondrogenesis and osteoarthritis.Arthritis Rheum. 2012 Jun;64(6):1909-19. doi: 10.1002/art.34314. Epub 2011 Dec 5.
2 Trypsin-2 degrades human type II collagen and is expressed and activated in mesenchymally transformed rheumatoid arthritis synovitis tissue.Am J Pathol. 2005 Oct;167(4):1119-24. doi: 10.1016/S0002-9440(10)61200-X.
3 Triptolide suppresses proinflammatory cytokine-induced matrix metalloproteinase and aggrecanase-1 gene expression in chondrocytes.Biochem Biophys Res Commun. 2005 Feb 4;327(1):320-7. doi: 10.1016/j.bbrc.2004.12.020.
4 A matrilin-3 mutation associated with osteoarthritis does not affect collagen affinity but promotes the formation of wider cartilage collagen fibrils.Hum Mutat. 2010 Mar;31(3):254-63. doi: 10.1002/humu.21182.