Details of Disease

General Information of Disease (ID: DISP4AHX)

Disease Name Chondrocalcinosis
Synonyms pseudogout; calcium pyrophosphate deposition disease
Definition An acute episode of pain, swelling, and redness, sometimes associated with fever. It is caused by the deposition of calcium pyrophosphate crystals in the joints.
Disease Hierarchy
DIS71G5H: Metabolic disorder
DIST1YEL: Arthritis
DISO7RI8: Metabolic bone disease
DISP4AHX: Chondrocalcinosis
Disease Identifiers
MONDO ID
MONDO_0001314
MESH ID
D002805
UMLS CUI
C0553730
MedGen ID
154303
HPO ID
HP:0000934
SNOMED CT ID
201637001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 5 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ALPL TTMR5UV Limited Biomarker [1]
SLC12A3 TTP362L Limited Genetic Variation [2]
ANK1 TTKFPMH Strong Genetic Variation [3]
ENPP1 TTZTIWS Strong Altered Expression [4]
POMC TT21AKM Strong Biomarker [5]
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This Disease Is Related to 1 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
FXYD2 DEULQ45 Limited Genetic Variation [6]
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This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
HFE OTDD93KB Limited Genetic Variation [7]
GALNT3 OT7M67WT Strong Biomarker [8]
KL OTD4VWU6 Strong Biomarker [9]
ANKH OTCN25R5 Definitive Biomarker [10]
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References

1 Investigation of the role of ENPP1 and TNAP genes in chondrocalcinosis.Rheumatology (Oxford). 2007 Apr;46(4):586-9. doi: 10.1093/rheumatology/kel338. Epub 2006 Oct 13.
2 Acute pseudogout - Measure serum magnesium.Ann Clin Biochem. 2019 May;56(3):411-414. doi: 10.1177/0004563219826169. Epub 2019 Feb 27.
3 The Role of ANK in Calcium Pyrophosphate Deposition Disease.Curr Rheumatol Rep. 2016 May;18(5):25. doi: 10.1007/s11926-016-0574-z.
4 Highly Selective and Potent Ectonucleotide Pyrophosphatase-1 (NPP1) Inhibitors Based on Uridine 5'-P(,)-Dithiophosphate Analogues.J Med Chem. 2018 May 10;61(9):3939-3951. doi: 10.1021/acs.jmedchem.7b01906. Epub 2018 May 2.
5 Crystallising the role of adrenocorticotrophic hormone in the management of acute gout: a review.Clin Exp Rheumatol. 2019 Jan-Feb;37(1):137-145. Epub 2018 Aug 29.
6 Recurrent FXYD2 p.Gly41Arg mutation in patients with isolated dominant hypomagnesaemia.Nephrol Dial Transplant. 2015 Jun;30(6):952-7. doi: 10.1093/ndt/gfv014. Epub 2015 Mar 11.
7 The H63D variant in the HFE gene predisposes to arthralgia, chondrocalcinosis and osteoarthritis.Ann Rheum Dis. 2007 Nov;66(11):1436-42. doi: 10.1136/ard.2006.063099. Epub 2007 Feb 6.
8 A mouse with an N-Ethyl-N-nitrosourea (ENU) Induced Trp589Arg Galnt3 mutation represents a model for hyperphosphataemic familial tumoural calcinosis.PLoS One. 2012;7(8):e43205. doi: 10.1371/journal.pone.0043205. Epub 2012 Aug 13.
9 N-ethyl-N-Nitrosourea (ENU) induced mutations within the klotho gene lead to ectopic calcification and reduced lifespan in mouse models.PLoS One. 2015 Apr 10;10(4):e0122650. doi: 10.1371/journal.pone.0122650. eCollection 2015.
10 Mutations in osteoprotegerin account for the CCAL1 locus in calcium pyrophosphate deposition disease.Osteoarthritis Cartilage. 2018 Jun;26(6):797-806. doi: 10.1016/j.joca.2018.03.005. Epub 2018 Mar 22.