MCID: CLC006
MIFTS: 55

Calcinosis malady

Summaries for Calcinosis

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8Disease Ontology, 63Wikipedia, 32MalaCards
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Wikipedia:63 Calcinosis is the formation of calcium deposits in any soft tissue. more...

MalaCards: Calcinosis, also known as pathologically calcified structure, is related to dermatomyositis and hyperphosphatemic familial tumoral calcinosis. An important gene associated with Calcinosis is FGF23 (fibroblast growth factor 23), and among its related pathways are FGFR1c and Klotho ligand binding and activation and Endochondral Ossification. The compounds vitamin d and cyclosporin a have been mentioned in the context of this disorder. Affiliated tissues include brain, bone and skin, and related mouse phenotypes are limbs/digits/tail and respiratory system.

Disease Ontology:8 A calcium metabolism disease that is the result of the formation of calcium deposits in any soft tissue.

Aliases & Classifications for Calcinosis

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8Disease Ontology, 10DISEASES, 44Novoseek, 60UMLS, 56SNOMED-CT, 34MeSH
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Aliases & Descriptions:

calcinosis 8 10 44 60
pathologically calcified structure 8
pathologic calcification 8


External Ids:

Disease Ontology8 DOID:182
MeSH34 D002114

Related Diseases for Calcinosis

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17GeneCards, 18GeneDecks
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Diseases related to Calcinosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 187)
idRelated DiseaseScoreTop Affiliating Genes
1dermatomyositis31.0PIK3C2A, FBN1
2hyperphosphatemic familial tumoral calcinosis30.8FGF23, GALNT3
3hyperphosphatemia30.5KL, GNAS, GALNT3, MGP, FGF23, SPP1
4systemic scleroderma30.3APITD1, CENPB
5hyperostosis30.3FGF23, GALNT3
6peritonitis30.3TNF
7systemic lupus erythematosus30.3FBN1, SPP1, CENPB, TNF
8connective tissue disease30.2FBN1, TNF
9hypoparathyroidism30.1FGF23
10hyperparathyroidism30.1KL, FGF23
11tumoral calcinosis, hyperphosphatemic30.0KL, FGF23
12hypercalcemia30.0MGP, FGF23
13arthritis30.0ANKH, FBN1, TNF
14arthropathy29.9TNF, ANKH, FGF23
15hypervitaminosis d29.9FGF23, KL
16pseudogout29.9ENPP1, ANKH
17obesity29.9GNAS, TNF, LMNA, ENPP1
18rheumatoid arthritis29.9TNF, EGR1, SPARC, SPP1, CENPB
19hyperthyroidism29.7FGF23, GNAS
20pseudoxanthoma elasticum29.7MGP, FBN1, ENPP1
21adenocarcinoma29.7SPP1, SPARC, EGR1
22telangiectasis29.7CENPB, FBN1
23myocardial infarction29.7MGP, PIK3C2A, ENPP1
24primary hyperoxaluria29.7ENPP1, FGF23, PIK3C2A, MGP
25osteoporosis29.7KL, MGP, MEPE, FGF23, SPARC, SPP1
26osteosarcoma29.7MGP, MEPE, FBN1, EGR1, ENPP1, SPARC
27atherosclerosis29.7TNF, MGP, FBN1, EGR1, FGF23, LMNA
28scleroderma10.5
29adult dermatomyositis10.4
30cervicitis10.4
31limited scleroderma10.3
32lupus erythematosus10.3
33normophosphatemic familial tumoral calcinosis10.3
34calciphylaxis10.2
35myositis10.2
36pseudohypoparathyroidism10.2
37familial tumoral calcinosis10.1
38burn scar10.0
39burns10.0
40cerebritis10.0
41localized scleroderma10.0
42down syndrome10.0
43esophagitis10.0
44familial idiopathic basal ganglia calcification10.0
45hyperphosphatemic familial tumoral calcinosis, galnt3-related10.0
46hyperphosphatemic familial tumoral calcinosis, kl-related10.0
47pancreatic cancer10.0SPARC
48mixed connective tissue disease10.0FBN1
49ankylosis10.0ENPP1
50aortic aneurysm10.0FBN1

Graphical network of the top 20 diseases related to Calcinosis:



Diseases related to calcinosis

Clinical Features for Calcinosis

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Drugs & Therapeutics for Calcinosis

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Calcinosis

Drug clinical trials:

Search ClinicalTrials for Calcinosis

Search NIH Clinical Center for Calcinosis

Search CenterWatch for Calcinosis

Genetic Tests for Calcinosis

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Anatomical Context for Calcinosis

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32MalaCards
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MalaCards organs/tissues related to Calcinosis:

32
Brain, Bone, Skin, Breast, Lung, Liver, Spinal cord, Kidney, Heart, Myeloid, T cells, Tongue

Animal Models for Calcinosis or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Calcinosis:

36 (show all 20)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537110.4KL, GALNT3, ANKH, FGF23, LMNA
2MP:000538810.3KL, GNAS, MGP, EGR1, ANKH, SPP1
3MP:000536910.1KL, MGP, FBN1, ANKH, LMNA, ENPP1
4MP:000537510.1KL, GNAS, TNF, PIK3C2A, FBN1, LMNA
5MP:000536710.0KL, GNAS, GALNT3, MGP, PIK3C2A, FBN1
6MP:001077110.0KL, GNAS, TNF, GALNT3, FBN1, EGR1
7MP:000538210.0GNAS, TNF, GALNT3, FBN1, ANKH, LMNA
8MP:00053899.9KL, TNF, GALNT3, FBN1, EGR1, ANKH
9MP:00053959.9KL, GALNT3, FBN1, ENPP1
10MP:00053859.8MGP, GALNT3, TNF, GNAS, KL, FBN1
11MP:00053799.8KL, GNAS, TNF, GALNT3, FBN1, EGR1
12MP:00053709.8KL, GNAS, TNF, EGR1, ANKH, LMNA
13MP:00053979.8KL, GNAS, TNF, PIK3C2A, FBN1, EGR1
14MP:00053869.8KL, GNAS, TNF, FBN1, EGR1, ANKH
15MP:00053849.7GNAS, TNF, FBN1, EGR1, ANKH, LMNA
16MP:00053769.7KL, GNAS, TNF, GALNT3, PIK3C2A, FBN1
17MP:00053879.7KL, GNAS, TNF, PIK3C2A, MEPE, FBN1
18MP:00053909.6SPP1, KL, GNAS, TNF, GALNT3, MGP
19MP:00053789.6PIK3C2A, MGP, GALNT3, TNF, GNAS, KL
20MP:00107689.5KL, GNAS, TNF, MGP, PIK3C2A, FBN1

Publications for Calcinosis

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50PubMed
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Articles related to Calcinosis:

(show top 50)    (show all 558)
idTitleAuthorsYear
1
Idiopathic calcinosis cutis. (24401976)
2014
2
Tumoral calcinosis in a patient on peritoneal dialysis. (23533236)
2013
3
The potential role of bone scintigraphy in the detection of deep muscular fascia involvement and calcinosis cutis in anti-synthetase syndrome. (23992278)
2013
4
Regulatory T cells improve nephrocalcinosis but not dystrophic cardiac calcinosis in DBA/2 mice. (23746654)
2013
5
Images in clinical medicine. Dystrophic calcinosis cutis. (23697531)
2013
6
Subcutaneous periarticular calcinosis. (23425670)
2013
7
Subcorneal milia-like idiopathic calcinosis cutis: a rare presentation. (23717024)
2013
8
Occurrence of new bone-like tissue formation in uremic tumoral calcinosis. (23142362)
2013
9
Mass-like and extensive secondary tumoral calcinosis in the neck and body of a patient on peritoneal dialysis. (23751266)
2013
10
Hyperphosphatemic tumoral calcinosis. (23645700)
2013
11
A rare case of disseminated idiopathic calcinosis cutis. (23837151)
2013
12
Sporotrichoid-like calcinosis cutis and calcifications in vessel walls and eccrine sweat glands following intravenous infusion of calcium gluconate. (21967298)
2012
13
Sketched x-rays: Calcinosis universalis. (22847171)
2012
14
Uremic tumoral calcinosis in a patient on hemodialysis. (22687862)
2012
15
Digital calcinosis circumscripta: case series and review of the literature. (21654339)
2012
16
Thoracic outlet syndrome with involvement of the cervical sympathetics because of idiopathic tumoral calcinosis. (21389840)
2011
17
Calcinosis cutis: report of 4 cases. (22219570)
2011
18
A rare disorder: tumoral calcinosis and cirrhosis. (22688940)
2011
19
Novel mutations in GALNT3 causing hyperphosphatemic familial tumoral calcinosis. (21347749)
2011
20
What is your diagnosis? Calcinosis circumscripta. (21879955)
2011
21
A case of juvenile dermatomyositis with severe calcinosis and successful treatment with prednisone and diltiazem. (21182506)
2011
22
Calcinosis cutis: critical review. (21489367)
2011
23
Effectiveness of the treatment with intravenous pamidronate in calcinosis in juvenile dermatomyositis. (20346254)
2010
24
Calcinosis cutis: a rare reaction to subcutaneous injections of calcium-containing heparin in patients with renal failure. (19851086)
2010
25
Familial tumoral calcinosis: from characterization of a rare phenotype to the pathogenesis of ectopic calcification. (19865099)
2010
26
Bilateral dystrophic calcinosis circumscripta in a cynomolgus macaque (Macaca fascicularis). (20448089)
2010
27
Bilateral striopallidodentate calcinosis with paroxysmal kinesigenic dyskinesia. (20682203)
2010
28
Massive gluteal calcinosis in a 10-year-old girl with juvenile dermatomyositis: successful surgical management. (19952619)
2009
29
Invasive uraemic calcinosis of the hip. (19748010)
2009
30
Petrified ear--a case of calcinosis cutis. (19734985)
2009
31
Autoantibodies to a 140-kd protein in juvenile dermatomyositis are associated with calcinosis. (19479859)
2009
32
Tumoral calcinosis--or is it? A case report and review. (18807094)
2009
33
Quiz page. October 2008. Tumoral calcinosis, with cystic cavities within a fibromuscular stroma that are filled with granular calcific material. Cyst walls consist of foamy histiocytes and multinucleated giant cells. (18805341)
2008
34
Tumoral calcinosis presenting as neck pain and mass lesion of the cervical spine. (19104694)
2008
35
Painful plantar fascia calcinosis in systemic sclerosis. (18766132)
2008
36
Uremic tumoral calcinosis improved by kidney transplantation. (19008916)
2008
37
Idiopathic tumoral calcinosis. (19205333)
2008
38
Calcinosis cutis: a rare feature of adult dermatomyositis. (18319027)
2008
39
Calcareous lesions of the distal extremities resembling tumoral calcinosis (tumoral calcinosislike lesions): clinicopathologic study of 43 cases emphasizing a pathogenesis-based approach to classification. (17197915)
2007
40
Idiopathic calcinosis cutis in fingertip treated with occlusive dressing using aluminum foil: a case report. (18360918)
2007
41
Metastatic calcinosis cutis presenting as bilateral vulval cysts. (17553048)
2007
42
Tumoral calcinosis of the foot with unusual presentation in an 11-year-old boy: a case report and review of literature. (18097113)
2007
43
A homozygous mutation in the lamin A/C gene associated with a novel syndrome of arthropathy, tendinous calcinosis, and progeroid features. (16278265)
2006
44
Tumoral calcinosis-like metastatic calcification in a patient on renal dialysis. (16377490)
2006
45
Resolution of tumoral calcinosis in a hemodialysis patient using low calcium dialysate. (15681261)
2005
46
Tumoral calcinosis with hyperphosphatemia. (16272668)
2005
47
Uncommon localization of calcinosis cutis after liver transplantation. (16286755)
2005
48
Calcinosis circumscripta in the dog: a retrospective pathological study. (15703005)
2005
49
Chronic recurrent multifocal osteomyelitis associated with tumoral calcinosis. (8113304)
1994
50
Calcinosis in a burn scar. (21065273)
1946

Genetic Variations for Calcinosis

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Expression for genes affiliated with Calcinosis

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Calcinosis

Search GEO for disease gene expression data for Calcinosis.

Pathways for genes affiliated with Calcinosis

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53Reactome, 37NCBI BioSystems Database, 12EMD Millipore
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Pathways related to Calcinosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.3FGF23, KL
210.2SPP1, ENPP1, MGP
3
Development Hedgehog and PTH signaling pathways in bone and cartilage development
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10.2SPP1, EGR1, GNAS

Compounds for genes affiliated with Calcinosis

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44Novoseek, 28IUPHAR, 59Tocris Bioscience, 49PharmGKB, 11DrugBank, 24HMDB
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Compounds related to Calcinosis according to GeneCards/GeneDecks:

(show all 28)
idCompoundScoreTop Affiliating Genes
1vitamin d4410.7FGF23, MGP
2cyclosporin a44 28 5912.6EGR1, PIK3C2A
3phosphorus4410.5SPP1, FGF23, PIK3C2A
4methylmethacrylate4410.5SPP1, SPARC
5tgf beta14410.4TNF, FBN1, EGR1, SPARC, SPP1
6tacrolimus44 49 1112.4TNF, EGR1, SPARC, SPP1
7glucose4410.4PIK3C2A, EGR1, ENPP1, SPARC
8pyrophosphate44 2411.4MGP, PIK3C2A, ANKH, ENPP1, SPP1
9alizarin4410.4SPP1, SPARC
10serine4410.4GNAS, TNF, MGP, FBN1, FGF23, LMNA
11fibrinogen4410.4TNF, PIK3C2A, EGR1, SPARC, SPP1
12hydroxyapatite4410.3SPP1, MGP, EGR1, ANKH, FGF23, ENPP1
13ascorbic acid44 2411.3SPP1, SPARC, FBN1, PIK3C2A
14progesterone44 59 28 11 2414.2GNAS, PIK3C2A, FBN1, EGR1, SPARC, SPP1
15calcitriol44 59 11 2413.2TNF, MGP, MEPE, EGR1, FGF23, SPARC
16heparin44 28 11 2413.2PIK3C2A, FBN1, FGF23, SPARC, SPP1
17arginine4410.2GNAS, PIK3C2A, FBN1, FGF23, LMNA, SPP1
18vegf4410.2KL, TNF, PIK3C2A, EGR1, SPARC, SPP1
19retinoic acid44 2411.2TNF, MGP, FBN1, EGR1, LMNA, SPARC
20lipid4410.1GNAS, TNF, PIK3C2A, FBN1, EGR1, LMNA
21glutamate4410.1GNAS, MGP, PIK3C2A, FBN1, EGR1, SPP1
22sb 20358044 5911.1TNF, EGR1, SPARC, SPP1
23ly2940024410.1SPP1, EGR1, PIK3C2A, TNF
24chondroitin sulfate44 2411.1FBN1, SPARC, SPP1
25oxygen44 2411.1GNAS, TNF, PIK3C2A, FBN1, EGR1, SPP1
26tyrosine4410.1KL, GNAS, PIK3C2A, FBN1, EGR1, FGF23
271,25 dihydroxy vitamin d3449.9SPP1, FGF23, EGR1
28calcium44 49 11 2412.8KL, GNAS, GALNT3, MGP, PIK3C2A, FBN1

GO Terms for genes affiliated with Calcinosis

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16Gene Ontology
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Cellular components related to Calcinosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:0055769.9SPP1, SPARC, FGF23, FBN1, TNF, GNAS
2extracellular spaceGO:0056159.8SPP1, SPARC, ENPP1, FGF23, FBN1, TNF
3proteinaceous extracellular matrixGO:0055789.8MGP, MEPE, FBN1, SPARC

Biological processes related to Calcinosis according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1sequestering of triglycerideGO:03073010.5ENPP1, TNF
2positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayGO:09008010.5KL, FGF23
3regulation of bone mineralizationGO:03050010.4ENPP1, ANKH, MGP
4cellular phosphate ion homeostasisGO:03064310.4FGF23, ENPP1
5biomineral tissue developmentGO:03121410.4MEPE, ENPP1, SPP1
6negative regulation of glucose importGO:04632510.3ENPP1, TNF
7positive regulation of osteoclast differentiationGO:04567210.3TNF, GNAS
8extracellular matrix organizationGO:03019810.0TNF, FBN1, SPARC, SPP1
9negative regulation of bone mineralizationGO:03050210.0FGF23, MEPE

Molecular functions related to Calcinosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:00520110.2FBN1, MEPE, MGP

Products for genes affiliated with Calcinosis

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  • Antibodies
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Sources for Calcinosis

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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