Details of Disease

General Information of Disease (ID: DISQP4OR)

• Disease Name: Calcinosis
• Synonyms: pathologically calcified structure; pathologic calcification; macrocalcification; deposit(s), calcium; calcium deposit(s); calcification
• Definition: Deposition of calcium in the tissues. It may be the result of a metabolic disorder or long-standing infection, or it may be associated with the presence of cancer.
• Disease Hierarchy:
  DISNEQBZ: Disorder of calcium metabolism
  DISQP4OR: Calcinosis
• Disease Identifiers:
  MONDO ID: MONDO_0002123
  MESH ID: D002114
  UMLS CUI: C0006663
  MedGen ID: 709
  HPO ID: HP:0003761
  SNOMED CT ID: 6595006

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 22 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
AHSG	TTKF4WV	moderate	Biomarker	[1]
CASP3	TTPF2QI	moderate	Biomarker	[2]
CCL2	TTNAY0P	moderate	Biomarker	[2]
COL18A1	TT63DI9	moderate	Biomarker	[2]
FCGR1A	TTZK4I3	moderate	Biomarker	[2]
IL18	TTRICUF	moderate	Biomarker	[2]
ITGB2	TTIJWR7	moderate	Biomarker	[2]
JAK2	TTRMX3V	moderate	Biomarker	[2]
LCN2	TTKTLAI	moderate	Biomarker	[2]
NOTCH1	TTB1STW	moderate	Biomarker	[3]
PTPN6	TT369M5	moderate	Biomarker	[2]
SPN	TTOZAX0	moderate	Biomarker	[2]
ALPL	TTMR5UV	Strong	Biomarker	[4]
DMD	TTWLFXU	Strong	Biomarker	[5]
EPO	TTQG4NR	Strong	Biomarker	[6]
FGF23	TT2IZ4K	Strong	Biomarker	[7]
ITGB1	TTBVIQC	Strong	Biomarker	[5]
MMP2	TTLM12X	Strong	Biomarker	[4]
PDGFB	TTQA6SX	Strong	Biomarker	[8]
PDGFRB	TTI7421	Strong	Biomarker	[8]
SLC22A6	TTTYH7A	Strong	Biomarker	[9]
SPP1	TT8ME6I	Strong	Biomarker	[2]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC20A2	DTFD4VB	Strong	Biomarker	[8]

This Disease Is Related to 15 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SAMD9	OTDG48P0	Limited	Biomarker	[10]
TIMP2	OT8S1RRP	Limited	Biomarker	[11]
BGLAP	OTK1YLWQ	moderate	Biomarker	[2]
C6	OTCKR304	moderate	Biomarker	[2]
COL1A1	OTI31178	moderate	Biomarker	[2]
GALNT3	OT7M67WT	moderate	Genetic Variation	[12]
LSP1	OTSPSIFO	moderate	Biomarker	[2]
LY86	OTTZB64A	moderate	Biomarker	[2]
PYCARD	OT67RON3	moderate	Biomarker	[2]
RIPK3	OTL1D484	moderate	Biomarker	[2]
TIMP1	OTOXC51H	moderate	Biomarker	[2]
CTC1	OTRJY7QD	Strong	Biomarker	[13]
KL	OTD4VWU6	Strong	Biomarker	[7]
SNAI2	OT7Y8EJ2	Strong	Biomarker	[14]
TNNI1	OT4GG8ED	Strong	Altered Expression	[15]

References

• [1] Myocardial stiffness, cardiac remodeling, and diastolic dysfunction in calcification-prone fetuin-A-deficient mice.J Am Soc Nephrol. 2005 Nov;16(11):3357-64. doi: 10.1681/ASN.2005040365. Epub 2005 Sep 21.
• [2] Raloxifene attenuates Gas6 and apoptosis in experimental aortic valve disease in renal failure.Am J Physiol Heart Circ Physiol. 2011 May;300(5):H1829-40. doi: 10.1152/ajpheart.00240.2010. Epub 2011 Feb 18.
• [3] Inhibitory role of Notch1 in calcific aortic valve disease.PLoS One. 2011;6(11):e27743. doi: 10.1371/journal.pone.0027743. Epub 2011 Nov 16.
• [4] Eicosapentaenoic acid reduces warfarin-induced arterial calcification in rats.Atherosclerosis. 2011 Mar;215(1):43-51. doi: 10.1016/j.atherosclerosis.2010.12.001. Epub 2010 Dec 8.
• [5] Combined deficiency of dystrophin and beta1 integrin in the cardiac myocyte causes myocardial dysfunction, fibrosis and calcification.Circ Res. 2008 May 9;102(9):1109-17. doi: 10.1161/CIRCRESAHA.108.173153. Epub 2008 Mar 13.
• [6] Tumoral calcinosis after an injection of recombinant human erythropoietin in a dialysis patient.Am J Kidney Dis. 2002 Aug;40(2):E5. doi: 10.1053/ajkd.2002.34549.
• [7] A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis. J Clin Invest. 2007 Sep;117(9):2684-91. doi: 10.1172/JCI31330.
• [8] Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export. Nat Genet. 2015 Jun;47(6):579-81. doi: 10.1038/ng.3289. Epub 2015 May 4.
• [9] Early manifestation of nephropathy in rats with arterial calcinosis.Ren Fail. 2003 May;25(3):355-66. doi: 10.1081/jdi-120021150.
• [10] [SAMD9 mutation in normophosphatemic familial tumoral calcinosis].Ann Dermatol Venereol. 2007 May;134(5 Pt 1):505. doi: 10.1016/s0151-9638(07)89230-1.
• [11] Genes involved in innate immunity associated with asbestos-related fibrotic changes.Occup Environ Med. 2014 Jan;71(1):48-54. doi: 10.1136/oemed-2013-101555. Epub 2013 Oct 4.
• [12] Tumoral calcinosis due to GALNT3 C.516-2A >T mutation in a black African family.Genet Couns. 2008;19(2):183-92.
• [13] Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus. Nat Genet. 2012 Jan 22;44(3):338-42. doi: 10.1038/ng.1084.
• [14] Low-level overexpression of p53 promotes warfarin-induced calcification of porcine aortic valve interstitial cells by activating Slug gene transcription.J Biol Chem. 2018 Mar 9;293(10):3780-3792. doi: 10.1074/jbc.M117.791145. Epub 2018 Jan 22.
• [15] Increased serum levels of troponin I and lesions in coronary angiography in hemodialysed patients.Rocz Akad Med Bialymst. 2005;50:311-3.