Details of Disease

General Information of Disease (ID: DISYJZKG)

• Disease Name: Familial tumoral calcinosis
• Definition: Tumoral calcinosis is a phosphocalcic metabolism anomaly, particularly among younger age groups and characterized by the presence of calcified masses in the juxta-articular regions (hip, elbow, ankle and scapula) without joint involvement. Histologically, lesions dysplay collagen necrobiosis, followed by cyst formation and a foreign-body response with calcification Two forms of tumoral calcinosis have been described: normocalcemic tumoral calcinosis and familial tumoral calcinosis.
• Disease Hierarchy:
  DISTXWNT: Integumentary system disorder
  DISQP4OR: Calcinosis
  DISGQU9D: Endocrine gland neoplasm
  DISYJZKG: Familial tumoral calcinosis
• Disease Identifiers:
  MONDO ID: MONDO_0018891
  UMLS CUI: C0263628
  MedGen ID: 452340
  Orphanet ID: 53715
  SNOMED CT ID: 61778004

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
CASP3	TTPF2QI	moderate	Biomarker	[1]
CCL2	TTNAY0P	moderate	Biomarker	[1]
COL18A1	TT63DI9	moderate	Biomarker	[1]
FCGR1A	TTZK4I3	moderate	Biomarker	[1]
IL18	TTRICUF	moderate	Biomarker	[1]
ITGB2	TTIJWR7	moderate	Biomarker	[1]
JAK2	TTRMX3V	moderate	Biomarker	[1]
LCN2	TTKTLAI	moderate	Biomarker	[1]
NOTCH1	TTB1STW	moderate	Biomarker	[2]
PTPN6	TT369M5	moderate	Biomarker	[1]
SPN	TTOZAX0	moderate	Biomarker	[1]
SPP1	TT8ME6I	moderate	Biomarker	[1]
AHSG	TTKF4WV	Strong	Biomarker	[3]
ALPL	TTMR5UV	Strong	Biomarker	[4]
DMD	TTWLFXU	Strong	Biomarker	[5]
EPO	TTQG4NR	Strong	Biomarker	[6]
FGF23	TT2IZ4K	Strong	Genetic Variation	[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]

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
TIMP2	OT8S1RRP	Limited	Biomarker	[10]
BGLAP	OTK1YLWQ	moderate	Biomarker	[1]
C6	OTCKR304	moderate	Biomarker	[1]
COL1A1	OTI31178	moderate	Biomarker	[1]
LSP1	OTSPSIFO	moderate	Biomarker	[1]
LY86	OTTZB64A	moderate	Biomarker	[1]
PYCARD	OT67RON3	moderate	Biomarker	[1]
RIPK3	OTL1D484	moderate	Biomarker	[1]
TIMP1	OTOXC51H	moderate	Biomarker	[1]
CTC1	OTRJY7QD	Strong	Biomarker	[11]
GALNT3	OT7M67WT	Strong	Genetic Variation	[12]
KL	OTD4VWU6	Strong	Genetic Variation	[13]
SAMD9	OTDG48P0	Strong	Biomarker	[14]
SNAI2	OT7Y8EJ2	Strong	Biomarker	[15]
MEPE	OTXJRUW0	Definitive	Genetic Variation	[16]

References

• [1] 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.
• [2] 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.
• [3] 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.
• [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] Dialysis as a Treatment Option for a Patient With Normal Kidney Function and Familial Tumoral Calcinosis Due to a Compound Heterozygous FGF23 Mutation.Am J Kidney Dis. 2018 Sep;72(3):457-461. doi: 10.1053/j.ajkd.2017.12.020. Epub 2018 Mar 14.
• [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] 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.
• [11] 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.
• [12] Human Preosteoblastic Cell Culture from a Patient with Severe Tumoral Calcinosis-Hyperphosphatemia Due to a New GALNT3 Gene Mutation: Study of In Vitro Mineralization.Calcif Tissue Int. 2015 May;96(5):438-52. doi: 10.1007/s00223-015-9974-8. Epub 2015 Apr 23.
• [13] A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis. J Clin Invest. 2007 Sep;117(9):2684-91. doi: 10.1172/JCI31330.
• [14] Human sterile alpha motif domain 9, a novel gene identified as down-regulated in aggressive fibromatosis, is absent in the mouse.BMC Genomics. 2007 Apr 3;8:92. doi: 10.1186/1471-2164-8-92.
• [15] 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.
• [16] The role of mutant UDP-N-acetyl-alpha-D-galactosamine-polypeptide N-acetylgalactosaminyltransferase 3 in regulating serum intact fibroblast growth factor 23 and matrix extracellular phosphoglycoprotein in heritable tumoral calcinosis.J Clin Endocrinol Metab. 2006 Oct;91(10):4037-42. doi: 10.1210/jc.2006-0305. Epub 2006 Jul 25.