MCID: CLC006
MIFTS: 51

Calcinosis malady

Summaries for Calcinosis

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9Disease Ontology, 66Wikipedia, 34MalaCards
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Wikipedia:66 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 FGFR ligand binding and activation and Insulin receptor signalling cascade. The compounds 25-hydroxyvitamin d and phosphorus have been mentioned in the context of this disorder. Affiliated tissues include brain, bone and skin, and related mouse phenotypes are other and limbs/digits/tail.

Disease Ontology:9 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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9Disease Ontology, 11DISEASES, 46Novoseek, 63UMLS, 59SNOMED-CT, 36MeSH
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Aliases & Descriptions:

calcinosis 9 11 46 63
pathologically calcified structure 9
pathologic calcification 9


External Ids:

Disease Ontology9 DOID:182
MeSH36 D002114

Related Diseases for Calcinosis

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Sources:
18GeneCards, 19GeneDecks
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Diseases related to Calcinosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 153)
idRelated DiseaseScoreTop Affiliating Genes
1hyperphosphatemic familial tumoral calcinosis31.0GALNT3, FGF23
2hyperphosphatemia30.5SPP1, FGF23, GALNT3, KL
3hyperostosis30.5GALNT3, FGF23
4hyperparathyroidism30.3FGF23, KL
5tumoral calcinosis, hyperphosphatemic30.2KL, FGF23
6hypervitaminosis d30.1KL, FGF23
7arthropathy30.0TNF, FGF23
8osteoporosis29.8FGF23, KL, SPP1
9primary hyperoxaluria29.7FGF23, ENPP1, SPP1
10dermatomyositis10.8
11familial tumoral calcinosis10.7
12scleroderma10.5
13normophosphatemic familial tumoral calcinosis10.4
14cervicitis10.4
15lupus erythematosus10.3
16adult dermatomyositis10.3
17systemic lupus erythematosus10.2
18peritonitis10.2
19limited scleroderma10.2
20calciphylaxis10.2
21connective tissue disease10.2
22myositis10.2
23pseudohypoparathyroidism10.2
24systemic scleroderma10.2
25hypoparathyroidism10.2
26familial idiopathic basal ganglia calcification10.2
27burn scar10.1
28burns10.1
29hypercalcemia10.1
30cerebritis10.1
31down syndrome10.1
32arthritis10.1
33esophagitis10.1
34antisynthetase syndrome10.1
35linear scleroderma10.1
36hyperphosphatemic familial tumoral calcinosis, galnt3-related10.1
37hyperphosphatemic familial tumoral calcinosis, kl-related10.1
38discoid lupus erythematosus10.1
39rickets10.1FGF23
40coronary restenosis10.1SPP1
41arteriosclerosis10.1SPP1
42pulmonary emphysema10.0KL, FGF23
43hypophosphatemia10.0FGF23, KL
44synovitis10.0TNF
45osteomalacia10.0KL, FGF23
46nephrolithiasis10.0SPP1, FGF23
47x-linked hypophosphatemia10.0FGF23, ENPP1
48rothmund-thomson syndrome10.0
49hereditary hemorrhagic telangiectasia10.0
50pseudogout10.0

Graphical network of the top 20 diseases related to Calcinosis:



Diseases related to calcinosis

Symptoms for Calcinosis

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Drugs & Therapeutics for Calcinosis

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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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34MalaCards
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MalaCards organs/tissues related to Calcinosis:

34
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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38MGI
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Publications for Calcinosis

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53PubMed
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Articles related to Calcinosis:

(show top 50)    (show all 551)
idTitleAuthorsYear
1
Idiopathic calcinosis cutis. (24401976)
2014
2
Diffuse dystrophic calcinosis cutis of the scalp in a patient with scalp discoid lupus erythematosus and systemic lupus erythematosus. (23426499)
2013
3
Gastric Mucosal Calcinosis: A Rare Cause of Bleeding. (24135468)
2013
4
Successful treatment of calcinosis with infliximab in a patient with systemic sclerosis/myositis overlap syndrome. (24255162)
2013
5
Idiopathic scrotal calcinosis: A rare entity and a review of the literature. (23826060)
2013
6
Cutaneous calcinosis in juvenile dermatomyositis. (23608558)
2013
7
Secondary bilateral striopallidodentate calcinosis associated with generalized pustular psoriasis (Von Zumbusch). (24011318)
2013
8
Idiopathic scrotal calcinosis: Is cytological diagnosis enough? (23437426)
2013
9
Enzootic calcinosis caused by Nierembergia rivularis in sheep. (22379059)
2012
10
Calcinosis cutis in autoimmune connective tissue diseases. (22741938)
2012
11
Huge recurrent tumoral calcinosis needing extensive excision and reconstruction: report of a rare case and brief literature review. (22653143)
2012
12
Sporotrichoid-like calcinosis cutis and calcifications in vessel walls and eccrine sweat glands following intravenous infusion of calcium gluconate. (21967298)
2012
13
Metastatic calcinosis cutis in patients of end-stage renal disease. (22268796)
2012
14
Poikiloderma with neutropenia: report of three cases including one with calcinosis cutis. (21967010)
2012
15
Tumoral calcinosis--a pathogenetic overview: a histological and ultrastructural study with a report of two new cases, one in infancy. (22614164)
2012
16
Infected calcinosis of the knee in limited cutaneous systemic sclerosis. (23028028)
2012
17
Normophosphatemic type tumoral calcinosis associated with chronic recurrent multifocal osteomyelitis: a case report. (21610312)
2011
18
Idiopathic calcinosis cutis in a child: chemical composition of the calcified deposits. (21540566)
2011
19
Calcinosis cutis. (21813938)
2011
20
Thoracic outlet syndrome with involvement of the cervical sympathetics because of idiopathic tumoral calcinosis. (21389840)
2011
21
Miscellaneous non-inflammatory musculoskeletal conditions. Hyperphosphatemic familial tumoral calcinosis (FGF23, GALNT3 and I+Klotho). (22142751)
2011
22
Tumoral calcinosis presenting as a deformity of the thoracic spine. (22132916)
2011
23
Metastatic calcinosis (including calcinosis cutis) in a young dog with multiple urinary tract abnormalities. (21410567)
2011
24
Strio-pallido-dentate calcinosis: a diagnostic approach in adult patients. (21479613)
2011
25
Primary localized cutaneous nodular amyloidosis associated with CREST (calcinosis, Raynaud's phenomenon, esophageal motility disorders, sclerodactyly, and telangiectasia) syndrome. (20465653)
2010
26
Scrotal calcinosis: A case report. (22096668)
2010
27
Brain calcinosis and seizures in an adolescent boy. (20118093)
2010
28
GALNT3, a gene associated with hyperphosphatemic familial tumoral calcinosis, is transcriptionally regulated by extracellular phosphate and modulates matrix metalloproteinase activity. (18976705)
2009
29
A novel recessive mutation of fibroblast growth factor-23 in tumoral calcinosis. (19411468)
2009
30
Calcinosis cutis associated with amyopathic dermatomyositis: response to intravenous immunoglobulin. (19467386)
2009
31
Tumoral calcinosis of the hand. (19226078)
2008
32
Tumoral calcinosis with vitamin D deficiency. (18974584)
2008
33
Fine-needle aspiration biopsy cytology of cutaneous calcinosis in a 74-year-old woman with dermatomyositis on methotrexate therapy: a case report. (18702364)
2008
34
Treatment of Achilles tendon calcinosis in juvenile dermatomyositis with external ilizarov fixator. (18078630)
2007
35
Tumoral calcinosis: new insights for the rheumatologist into a familial crystal deposition disease. (17531178)
2007
36
Scrotal calcinosis: pathogenesis and case report. (16001101)
2005
37
Resolution of tumoral calcinosis in a hemodialysis patient using low calcium dialysate. (15681261)
2005
38
Calcinosis universalis in systemic sclerosis with limited scleroderma. (15789907)
2005
39
A novel GALNT3 mutation in a pseudoautosomal dominant form of tumoral calcinosis: evidence that the disorder is autosomal recessive. (15687324)
2005
40
A pilot study of acetic acid iontophoresis and ultrasound in the treatment of systemic sclerosis-related calcinosis. (15644389)
2005
41
Tumoral calcinosis with hyperphosphatemia. (16272668)
2005
42
Clinical images: Calcinosis universalis complicating juvenile dermatomyositis. (15880809)
2005
43
A case of massive dystrophic cardiac calcinosis with increased bone resorption markers: a novel pathophysiologic link? (15476567)
2004
44
Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis. (15133511)
2004
45
Evaluation of crystals in formalin-fixed, paraffin-embedded tissue sections for the differential diagnosis of pseudogout, gout, and tumoral calcinosis. (11504841)
2001
46
What's your diagnosis: Tumoral calcinosis. (17344714)
1998
47
Image of the month. CREST syndrome: calcinosis cutis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasis. (9178667)
1997
48
Soft-tissue chondroma as a cause of calcinosis in a patient with CREST syndrome. (8457459)
1993
49
Elevated serum calcitriol concentrations do not fall in response to hyperphosphatemia in familial tumoral calcinosis. (3839626)
1985
50
Calcinosis in a burn scar. (21065273)
1946

Variations for Calcinosis

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Expression for genes affiliated with Calcinosis

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2BioGPS, 16Gene 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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51PathCards, 56Reactome, 61Thomson Reuters, 39NCBI BioSystems Database, 31KEGG, 54QIAGEN
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Pathways related to Calcinosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.6FGF23, KL
2
Show member pathways
9.6FGF23, KL
39.6FGF23, SPP1
49.3TNF, SPP1
59.3TNF, SPP1
6
Show member pathways
9.1ENPP1, KL
79.1SPP1, ENPP1
8
Show member pathways
9.1FGF23, SPP1, KL
9
Show member pathways
9.0SPP1, TNF, FGF23

Compounds for genes affiliated with Calcinosis

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46Novoseek, 52PharmGKB, 12DrugBank, 25HMDB, 30IUPHAR, 62Tocris Bioscience
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Compounds related to Calcinosis according to GeneCards/GeneDecks:

(show all 14)
idCompoundScoreTop Affiliating Genes
125-hydroxyvitamin d469.8FGF23, SPP1
2phosphorus469.8SPP1, FGF23
31,25 dihydroxy vitamin d3469.6SPP1, FGF23
4mycophenolate mofetil46 52 1211.5TNF, SPP1
5infliximab46 52 1211.5SPP1, TNF
6glucosamine46 25 1211.5SPP1, TNF
7troglitazone46 30 62 1212.3TNF, SPP1
8calcitriol46 62 25 1212.2FGF23, TNF, SPP1
9hydroxyapatite469.0FGF23, ENPP1, SPP1
10vegf468.5KL, TNF, SPP1
11dexamethasone46 52 30 1211.4ENPP1, TNF, SPP1
12tyrosine468.3FGF23, ENPP1, KL, SPP1
13serine468.2SPP1, TNF, ENPP1, FGF23
14calcium46 52 25 1211.0SPP1, KL, GALNT3, ENPP1, FGF23

GO Terms for genes affiliated with Calcinosis

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17Gene Ontology
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Cellular components related to Calcinosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:0055768.4FGF23, KL, TNF, SPP1
2extracellular spaceGO:0056157.3FGF23, ENPP1, KL, TNF, SPP1

Biological processes related to Calcinosis according to GeneCards/GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayGO:0900809.8KL, FGF23
2phosphatidylinositol-mediated signalingGO:0480159.6FGF23, KL
3negative regulation of osteoblast differentiationGO:0456689.5FGF23, TNF
4cellular phosphate ion homeostasisGO:0306439.5ENPP1, FGF23
5phosphate-containing compound metabolic processGO:0067969.4FGF23, ENPP1
6sequestering of triglycerideGO:0307309.3ENPP1, TNF
7biomineral tissue developmentGO:0312149.2SPP1, ENPP1
8positive regulation of ERK1 and ERK2 cascadeGO:0703749.2FGF23, TNF
9negative regulation of glucose importGO:0463259.2ENPP1, TNF
10negative regulation of fat cell differentiationGO:0455998.9ENPP1, TNF

Products for genes affiliated with Calcinosis

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Sources for Calcinosis

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet