MCID: CLC006
MIFTS: 49

Calcinosis malady

Summaries for Calcinosis

Sources:
8Disease Ontology, 64Wikipedia, 33MalaCards
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Wikipedia:64 Calcinosis is the formation of calcium deposits in any soft tissue. more...

MalaCards: Calcinosis, also known as pathologically calcified structure, is related to hyperphosphatemic familial tumoral calcinosis and hyperphosphatemia. 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. 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

Sources:
8Disease Ontology, 10DISEASES, 45Novoseek, 61UMLS, 57SNOMED-CT, 35MeSH
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Aliases & Descriptions:

calcinosis 8 10 45 61
pathologically calcified structure 8
pathologic calcification 8


External Ids:

Disease Ontology8 DOID:182
MeSH35 D002114

Related Diseases for Calcinosis

Sources:
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 179)
idRelated DiseaseScoreTop Affiliating Genes
1hyperphosphatemic familial tumoral calcinosis30.9FGF23, GALNT3
2hyperphosphatemia30.5KL, GNAS, GALNT3, MGP, FGF23, SPP1
3tumoral calcinosis, hyperphosphatemic30.5KL, FGF23
4systemic scleroderma30.4APITD1, CENPB
5systemic lupus erythematosus30.3FBN1, SPP1, CENPB, TNF
6hypoparathyroidism30.2FGF23
7hypercalcemia30.1MGP, FGF23
8arthritis30.1ANKH, FBN1, TNF
9arthropathy30.0TNF, ANKH, FGF23
10pseudogout30.0ENPP1, ANKH
11hypervitaminosis d29.7FGF23, KL
12pseudoxanthoma elasticum29.7MGP, FBN1, ENPP1
13adenocarcinoma29.7SPP1, SPARC, EGR1
14telangiectasis29.7CENPB, FBN1
15primary hyperoxaluria29.7ENPP1, FGF23, PIK3C2A, MGP
16osteoporosis29.7KL, MGP, MEPE, FGF23, SPARC, SPP1
17atherosclerosis29.7TNF, MGP, FBN1, EGR1, FGF23, LMNA
18familial tumoral calcinosis10.7
19adult dermatomyositis10.4
20normophosphatemic familial tumoral calcinosis10.4
21limited scleroderma10.3
22calciphylaxis10.2
23burn scar10.1
24localized scleroderma10.1
25antisynthetase syndrome10.1
26familial idiopathic basal ganglia calcification10.1
27cutaneous sclerosis10.1
28linear scleroderma10.1
29hyperphosphatemic familial tumoral calcinosis, galnt3-related10.1
30hyperphosphatemic familial tumoral calcinosis, kl-related10.1
31discoid lupus erythematosus10.1
32hereditary hemorrhagic telangiectasia10.0
33rothmund-thomson syndrome10.0
34pulmonary alveolar microlithiasis10.0
35raynaud disease10.0
36syringoma10.0
37nephrocalcinosis10.0
38down syndrome10.0
39n syndrome10.0
40chronic recurrent multifocal osteomyelitis10.0
41hyperostosis-hyperphosphatemia syndrome10.0
42reynolds syndrome10.0
43hyperphosphatemic familial tumoral calcinosis, fgf23-related10.0
44paroxysmal dyskinesia10.0
45overlap myositis10.0
46pancreatic cancer10.0SPARC
47mixed connective tissue disease10.0FBN1
48hyperostosis10.0FGF23, GALNT3
49ankylosis10.0ENPP1
50aortic aneurysm10.0FBN1

Graphical network of the top 20 diseases related to Calcinosis:



Diseases related to calcinosis

Clinical Features for Calcinosis

Drugs & Therapeutics for Calcinosis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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

Anatomical Context for Calcinosis

Animal Models for Calcinosis or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Calcinosis:

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

Publications for Calcinosis

Sources:
51PubMed
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Articles related to Calcinosis:

(show top 50)    (show all 558)
idTitleAuthorsYear
1
Diffuse dystrophic calcinosis cutis of the scalp in a patient with scalp discoid lupus erythematosus and systemic lupus erythematosus. (23426499)
2013
2
Cutaneous calcinosis in juvenile dermatomyositis. (23608558)
2013
3
Massive calcinosis and severe osteoporosis in paediatric-onset overlap syndrome. (24238236)
2013
4
Iatrogenic calcinosis cutis in a neonate. (23436888)
2013
5
Obesity and calcinosis cutis: characteristic early signs of infantile pseudohypoparathyroidism. (23783828)
2013
6
Tumoral calcinosis in systemic sclerosis. (23010534)
2013
7
Pathology in practice. Calcinosis cutis. (23865876)
2013
8
Huge recurrent tumoral calcinosis needing extensive excision and reconstruction: report of a rare case and brief literature review. (22653143)
2012
9
Poikiloderma with neutropenia: report of three cases including one with calcinosis cutis. (21967010)
2012
10
Multiple supramassetric dystrophic calcinosis. (23482595)
2012
11
Idiopathic calcinosis cutis of nasal dorsum. (22557858)
2012
12
Treatment of systemic sclerosis-associated calcinosis: a case report of rituximab-induced regression of CREST-related calcinosis and review of the literature. (22221908)
2012
13
A severe case of universal calcinosis with juvenile dermatomyositis. (23075660)
2012
14
Iatrogenic hyperadrenocorticism, calcinosis cutis, and myocardial infarction in a dog treated for IMT. (22474044)
2012
15
Dermatomyositis and metastatic lung adenocarcinoma first presenting as calcinosis cutis. (22328959)
2012
16
Strio-pallido-dentate calcinosis: a diagnostic approach in adult patients. (21479613)
2011
17
Milia-like Idiopathic Calcinosis Cutis Occurring in a Toddler Born as a Premature Baby. (22148017)
2011
18
Calcinosis cutis in a newborn with transient pseudohypoparathyroidism. (21611713)
2011
19
Clinical images: Voluminous ectopic tumoral calcinosis of the spine in systemic sclerosis. (20890973)
2011
20
Subcutaneous fat calcinosis in adult-onset dermatomyositis. (22688480)
2011
21
Primary localized cutaneous nodular amyloidosis associated with CREST (calcinosis, Raynaud's phenomenon, esophageal motility disorders, sclerodactyly, and telangiectasia) syndrome. (20465653)
2010
22
Brain calcinosis and seizures in an adolescent boy. (20118093)
2010
23
Efficacy of thalidomide in a girl with inflammatory calcinosis, a severe complication of juvenile dermatomyositis. (20181085)
2010
24
Medical treatment for tumoral calcinosis with eight years of follow-up: a report of four cases. (20065385)
2009
25
Re: Wu JJ, Metz BJ. Calcinosis cutis of juvenile dermatomyositis treated with incision and drainage. (19215275)
2009
26
Calcinosis on the face in systemic sclerosis: case report and overview of relevant literature. (19531431)
2009
27
Familial tumoral calcinosis caused by a novel FGF23 mutation: response to induction of tubular renal acidosis with acetazolamide and the non-calcium phosphate binder sevelamer. (19188744)
2009
28
Intravenous immunoglobulin therapy for dystrophic calcinosis cutis: unreliable in our hands. (19289776)
2009
29
Tumoral calcinosis of the ribs and lumbar spine in systemic sclerosis. (18573736)
2008
30
Calcinosis cutis. (19263686)
2008
31
Facial subcutaneous calcinosis and mandibular resorption in systemic sclerosis: a case report. (17463103)
2007
32
Cytomorphology of tumoral calcinosis: a case report. (17883163)
2007
33
Tumoral calcinosis]. (17507846)
2007
34
A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis. (18094491)
2007
35
What is your diagnosis? Osteochondroma, extraskeletal osteosarcoma, or tumor calcinosis. (17571979)
2007
36
Hyperostosis with hyperphosphatemia and tumoral calcinosis: a case report. (17437133)
2007
37
Radiological and histological features of tumoral calcinosis of the dorsum of the foot. (17875169)
2007
38
Tumoral calcinosis in a peritoneal dialysis patient. (17130817)
2006
39
Extensive skin calcifications in an infant with chronic renal failure: metastatic calcinosis cutis. (16780469)
2006
40
Congenital bilateral calcinosis cutis of the hands. (16777281)
2006
41
Tumoral calcinosis: a look into the metabolic mirror of phosphate homeostasis. (15814777)
2005
42
Absence of intraepidermal glycosyltransferase ppGalNac-T3 expression in familial tumoral calcinosis. (15900124)
2005
43
Compression of the anterior mediastinum by uremic tumoral calcinosis unusually involving the sternoclavicular joint. (15722829)
2005
44
A novel recessive mutation in fibroblast growth factor-23 causes familial tumoral calcinosis. (15687325)
2005
45
Tumoral calcinosis: a case report. (15832746)
2005
46
Bullous systemic lupus erythematosus with milia and calcinosis. (12184671)
2002
47
Familial tumoral calcinosis: association with cerebral and peripheral aneurysm formation. (10379593)
1999
48
What's your diagnosis: Tumoral calcinosis. (17344714)
1998
49
Systemic scleroderma and perforating granuloma annulare: differential diagnosis from calcinosis. (8726647)
1996
50
Relation of the anti-stiffness factor to collagen disease and calcinosis. (15419614)
1950

Genetic Variations for Calcinosis

Expression for genes affiliated with Calcinosis

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
54Reactome, 38NCBI BioSystems Database, 12EMD Millipore
See all sources

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
Hide members
10.2SPP1, EGR1, GNAS

Compounds for genes affiliated with Calcinosis

Sources:
45Novoseek, 29IUPHAR, 60Tocris Bioscience, 50PharmGKB, 11DrugBank, 24HMDB
See all sources

Compounds related to Calcinosis according to GeneCards/GeneDecks:

(show all 28)
idCompoundScoreTop Affiliating Genes
1vitamin d4510.7FGF23, MGP
2cyclosporin a45 29 6012.6EGR1, PIK3C2A
3phosphorus4510.5SPP1, FGF23, PIK3C2A
4methylmethacrylate4510.5SPP1, SPARC
5tgf beta14510.4TNF, FBN1, EGR1, SPARC, SPP1
6tacrolimus45 50 1112.4TNF, EGR1, SPARC, SPP1
7glucose4510.4PIK3C2A, EGR1, ENPP1, SPARC
8pyrophosphate45 2411.4MGP, PIK3C2A, ANKH, ENPP1, SPP1
9alizarin4510.4SPP1, SPARC
10serine4510.4GNAS, TNF, MGP, FBN1, FGF23, LMNA
11fibrinogen4510.4TNF, PIK3C2A, EGR1, SPARC, SPP1
12hydroxyapatite4510.3SPP1, MGP, EGR1, ANKH, FGF23, ENPP1
13ascorbic acid45 2411.3SPP1, SPARC, FBN1, PIK3C2A
14progesterone45 60 29 11 2414.2GNAS, PIK3C2A, FBN1, EGR1, SPARC, SPP1
15calcitriol45 60 11 2413.2TNF, MGP, MEPE, EGR1, FGF23, SPARC
16heparin45 29 11 2413.2PIK3C2A, FBN1, FGF23, SPARC, SPP1
17arginine4510.2GNAS, PIK3C2A, FBN1, FGF23, LMNA, SPP1
18vegf4510.2KL, TNF, PIK3C2A, EGR1, SPARC, SPP1
19retinoic acid45 2411.2TNF, MGP, FBN1, EGR1, LMNA, SPARC
20lipid4510.1GNAS, TNF, PIK3C2A, FBN1, EGR1, LMNA
21glutamate4510.1GNAS, MGP, PIK3C2A, FBN1, EGR1, SPP1
22sb 20358045 6011.1TNF, EGR1, SPARC, SPP1
23ly2940024510.1SPP1, EGR1, PIK3C2A, TNF
24chondroitin sulfate45 2411.1FBN1, SPARC, SPP1
25oxygen45 2411.1GNAS, TNF, PIK3C2A, FBN1, EGR1, SPP1
26tyrosine4510.1KL, GNAS, PIK3C2A, FBN1, EGR1, FGF23
271,25 dihydroxy vitamin d3459.9SPP1, FGF23, EGR1
28calcium45 50 11 2412.8KL, GNAS, GALNT3, MGP, PIK3C2A, FBN1

GO Terms for genes affiliated with Calcinosis

Sources:
16Gene Ontology
See all sources

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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Sources for Calcinosis

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet