MCID: CLC006
MIFTS: 53

Calcinosis malady

Metabolic diseases category
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Summaries for Calcinosis

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Wikipedia:65 Calcinosis is the formation of calcium deposits in any soft tissue. more...

MalaCards based summary: Calcinosis, also known as pathologically calcified structure, is related to hyperphosphatemic familial tumoral calcinosis and hyperostosis. 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: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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Calcinosis, Aliases & Descriptions:

Name: Calcinosis 8 10 44 62
Pathologically Calcified Structure 8 62
 
Calcification, Pathologic 62
Pathologic Calcification 8


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases


External Ids:

Disease Ontology8 DOID:182
MeSH34 D002114

Related Diseases for Calcinosis

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

(show top 50)    (show all 158)
idRelated DiseaseScoreTop Affiliating Genes
1hyperphosphatemic familial tumoral calcinosis31.4GALNT3, FGF23
2hyperostosis30.8GALNT3, FGF23
3hyperparathyroidism30.6FGF23, KL
4tumoral calcinosis, hyperphosphatemic30.5KL, FGF23
5hypervitaminosis d30.4KL, FGF23
6hyperphosphatemia30.4SPP1, FGF23, GALNT3, KL
7arthropathy30.1TNF, FGF23
8osteoporosis29.8FGF23, KL, SPP1
9primary hyperoxaluria29.5FGF23, ENPP1, SPP1
10atherosclerosis29.2ENPP1, FGF23, SPP1, TNF
11dermatomyositis10.8
12familial tumoral calcinosis10.7
13scleroderma10.5
14crest syndrome10.4
15cervicitis10.4
16normophosphatemic familial tumoral calcinosis10.4
17rickets10.4FGF23
18coronary restenosis10.4SPP1
19adult dermatomyositis10.3
20lupus erythematosus10.3
21arteriosclerosis10.3SPP1
22familial idiopathic basal ganglia calcification10.3
23systemic lupus erythematosus10.3
24connective tissue disease10.3
25peritonitis10.3
26systemic scleroderma10.2
27limited scleroderma10.2
28calciphylaxis10.2
29hypoparathyroidism10.2
30myositis10.2
31pseudohypoparathyroidism10.2
32pulmonary emphysema10.2KL, FGF23
33hypophosphatemia10.2FGF23, KL
34synovitis10.2TNF
35osteomalacia10.2KL, FGF23
36nephrolithiasis10.2SPP1, FGF23
37arthritis10.1
38burn scar10.1
39burns10.1
40down syndrome10.1
41hypercalcemia10.1
42cerebritis10.1
43esophagitis10.1
44osteomyelitis10.1
45antisynthetase syndrome10.1
46chronic recurrent multifocal osteomyelitis10.1
47linear scleroderma10.1
48fahr's syndrome10.1
49discoid lupus erythematosus10.1
50x-linked hypophosphatemia10.1FGF23, ENPP1

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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Drug clinical trials:

Search ClinicalTrials for Calcinosis

Search NIH Clinical Center for Calcinosis

Genetic Tests for Calcinosis

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Anatomical Context for Calcinosis

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MalaCards organs/tissues related to Calcinosis:

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

Animal Models for Calcinosis or affiliated genes

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Publications for Calcinosis

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Articles related to Calcinosis:

(show top 50)    (show all 580)
idTitleAuthorsYear
1
Idiopathic calcinosis cutis. (24401976)
2014
2
Familial tumoral calcinosis. (25351424)
2014
3
Normocalcemic primary hyperparathyroidism presenting as calcinosis cutis. (25160019)
2014
4
Atypical occipital calcinosis in a caucasian individual with probable diffuse neurofibrillary tangles with calcification. (25333560)
2014
5
Severe vascular calcification and tumoral calcinosis in a family with hyperphosphatemia: a fibroblast growth factor 23 mutation identified by exome sequencing. (25378588)
2014
6
Diffuse dystrophic calcinosis cutis of the scalp in a patient with scalp discoid lupus erythematosus and systemic lupus erythematosus. (23426499)
2013
7
Gastric Mucosal Calcinosis: A Rare Cause of Bleeding. (24135468)
2013
8
Successful treatment of calcinosis with infliximab in a patient with systemic sclerosis/myositis overlap syndrome. (24255162)
2013
9
Idiopathic scrotal calcinosis: A rare entity and a review of the literature. (23826060)
2013
10
Cutaneous calcinosis in juvenile dermatomyositis. (23608558)
2013
11
Secondary bilateral striopallidodentate calcinosis associated with generalized pustular psoriasis (Von Zumbusch). (24011318)
2013
12
Enzootic calcinosis caused by Nierembergia rivularis in sheep. (22379059)
2012
13
Calcinosis cutis in autoimmune connective tissue diseases. (22741938)
2012
14
Huge recurrent tumoral calcinosis needing extensive excision and reconstruction: report of a rare case and brief literature review. (22653143)
2012
15
Sporotrichoid-like calcinosis cutis and calcifications in vessel walls and eccrine sweat glands following intravenous infusion of calcium gluconate. (21967298)
2012
16
Metastatic calcinosis cutis in patients of end-stage renal disease. (22268796)
2012
17
Poikiloderma with neutropenia: report of three cases including one with calcinosis cutis. (21967010)
2012
18
Tumoral calcinosis--a pathogenetic overview: a histological and ultrastructural study with a report of two new cases, one in infancy. (22614164)
2012
19
Normophosphatemic type tumoral calcinosis associated with chronic recurrent multifocal osteomyelitis: a case report. (21610312)
2011
20
Idiopathic calcinosis cutis in a child: chemical composition of the calcified deposits. (21540566)
2011
21
Calcinosis cutis. (21813938)
2011
22
Thoracic outlet syndrome with involvement of the cervical sympathetics because of idiopathic tumoral calcinosis. (21389840)
2011
23
Miscellaneous non-inflammatory musculoskeletal conditions. Hyperphosphatemic familial tumoral calcinosis (FGF23, GALNT3 and I+Klotho). (22142751)
2011
24
Tumoral calcinosis presenting as a deformity of the thoracic spine. (22132916)
2011
25
Metastatic calcinosis (including calcinosis cutis) in a young dog with multiple urinary tract abnormalities. (21410567)
2011
26
Primary localized cutaneous nodular amyloidosis associated with CREST (calcinosis, Raynaud's phenomenon, esophageal motility disorders, sclerodactyly, and telangiectasia) syndrome. (20465653)
2010
27
GALNT3, a gene associated with hyperphosphatemic familial tumoral calcinosis, is transcriptionally regulated by extracellular phosphate and modulates matrix metalloproteinase activity. (18976705)
2009
28
A novel recessive mutation of fibroblast growth factor-23 in tumoral calcinosis. (19411468)
2009
29
Calcinosis cutis associated with amyopathic dermatomyositis: response to intravenous immunoglobulin. (19467386)
2009
30
Tumoral calcinosis of the hand. (19226078)
2008
31
Tumoral calcinosis with vitamin D deficiency. (18974584)
2008
32
Fine-needle aspiration biopsy cytology of cutaneous calcinosis in a 74-year-old woman with dermatomyositis on methotrexate therapy: a case report. (18702364)
2008
33
Calcinosis in juvenile dermatomyositis. (18820391)
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
Evaluation of crystals in formalin-fixed, paraffin-embedded tissue sections for the differential diagnosis of pseudogout, gout, and tumoral calcinosis. (11504841)
2001
45
What's your diagnosis: Tumoral calcinosis. (17344714)
1998
46
Image of the month. CREST syndrome: calcinosis cutis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasis. (9178667)
1997
47
Soft-tissue chondroma as a cause of calcinosis in a patient with CREST syndrome. (8457459)
1993
48
Uremic tumoral calcinosis: preliminary observations suggesting an association with aberrant vitamin D homeostasis. (1962658)
1991
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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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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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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Compounds related to Calcinosis according to GeneCards/GeneDecks:

(show all 14)
idCompoundScoreTop Affiliating Genes
125-hydroxyvitamin d449.8FGF23, SPP1
2phosphorus449.8SPP1, FGF23
31,25 dihydroxy vitamin d3449.6SPP1, FGF23
4mycophenolate mofetil44 50 1111.5TNF, SPP1
5infliximab44 50 1111.5SPP1, TNF
6glucosamine44 24 1111.5SPP1, TNF
7troglitazone44 28 61 1112.3TNF, SPP1
8calcitriol44 61 24 1112.2FGF23, TNF, SPP1
9hydroxyapatite449.0FGF23, ENPP1, SPP1
10vegf448.5KL, TNF, SPP1
11dexamethasone44 50 28 1111.4ENPP1, TNF, SPP1
12tyrosine448.3FGF23, ENPP1, KL, SPP1
13serine448.2SPP1, TNF, ENPP1, FGF23
14calcium44 50 24 1111.0SPP1, KL, GALNT3, ENPP1, FGF23

GO Terms for genes affiliated with Calcinosis

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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:0480159.6KL, FGF23
3negative regulation of osteoblast differentiationGO:0456689.5FGF23, TNF
4cellular phosphate ion homeostasisGO:0306439.5FGF23, ENPP1
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:0463259.2TNF, ENPP1
10negative regulation of fat cell differentiationGO:0455998.9TNF, ENPP1

Products for genes affiliated with Calcinosis

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet