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


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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
Scrotal calcinosis may arise from cyst wall apoptosis. (23495956)
2014
2
Familial Tumoral Calcinosis with dento-alveolar anomalies: clinico-pathological findings and Confocal Laser Scanning Microscopy of hard and soft tissues lesions. (24353776)
2013
3
Spontaneous cardiac calcinosis in BALB/cByJ mice. (23561935)
2013
4
Cervical tumoral calcinosis with secondary hyperparathyroidism in a chronic hemodialysis patient. (23072397)
2013
5
Idiopathic Calcinosis Cutis over Elbow in a 12-Year Old Child. (24294531)
2013
6
Subscapular bursitis and calcinosis in a dermatomyositis patient. (24285291)
2013
7
Calcinosis cutis in autoimmune connective tissue diseases. (22741938)
2012
8
Infected calcinosis of the knee in limited cutaneous systemic sclerosis. (23028028)
2012
9
Calcinosis cutis at cytarabine injection site in three dogs receiving prednisolone. (22885187)
2012
10
Calcinosis cutis following contact with calcium chloride solution. (23157788)
2012
11
Tumoral calcinosis of shoulders. (22227517)
2012
12
Subscapular tumoral calcinosis in a toddler: case report. (23378877)
2012
13
A case of paroxysmal kinesigenic dyskinesia in idiopathic bilateral striopallidodentate calcinosis. (23058742)
2012
14
Linear skin atrophy preceding calcinosis cutis in pseudo-pseudohypoparathyroidism. (22299648)
2012
15
Massive, painful tumoral calcinosis in a long-term hemodialysis patient. (22093521)
2011
16
The co-existence of vulvar lichen sclerosus, ulcerated calcinosis cutis, and dermatomyositis: coincidence or immunological mechanism? (22346282)
2011
17
Fingertip calcinosis cutis in an incomplete limited-type systemic scleroderma. (21708515)
2011
18
Bilateral striopallidodentate calcinosis (Fahr's syndrome): an unusual cause of syncope. (21048559)
2010
19
Aggressive tumoral calcinosis in an infant thoracotomy scar. (20858653)
2010
20
Family with migraine and idiopathic bilateral striopallidodentate calcinosis. (19614694)
2010
21
Systemic sclerosis sine scleroderma and calcinosis cutis: report of a rare case. (19834761)
2010
22
Autoimmune polyendocrine syndrome type I and brain calcinosis. (19699136)
2010
23
Familial tumoral calcinosis. (21290017)
2010
24
Calcinosis cutis associated with amyopathic dermatomyositis: response to intravenous immunoglobulin. (19467386)
2009
25
Bilateral striopallidodentate calcinosis (Fahr's disease). (19579751)
2009
26
Calcinosis cutis on the face. (19293509)
2009
27
Calcinosis in juvenile dermatomyositis. (18820391)
2008
28
Tumoral calcinosis demonstrated on Tc-99m sestamibi scintigraphy. (19033810)
2008
29
Tumoral calcinosis of the elbow in a long-term hemodialysis patient. (18087136)
2008
30
Idiopathic scrotal calcinosis - a pedunculated rare variant. (18222738)
2008
31
Tumoral calcinosis. (18583815)
2008
32
Normophosphatemic familial tumoral calcinosis is caused by deleterious mutations in SAMD9, encoding a TNF-alpha responsive protein. (18094730)
2008
33
Progressive myelopathy due to idiopathic intraspinal tumoral calcinosis of the cervical spine. Case report. (17877275)
2007
34
Tumoral calcinosis: a case report. (23132997)
2007
35
Scrotal calcinosis results from calcification of cysts derived from hair follicles: a series of 20 cases evaluating the spectrum of changes resulting in scrotal calcinosis. (17414441)
2007
36
Calcinosis circumscripta in a common marmoset (Callithrix jacchus jacchus). (16642972)
2006
37
Ureteral calcinosis in juvenile dermatomyositis: successful precocious surgical management. (17081329)
2006
38
Tumoral calcinosis--clinicopathological study of five cases. (17001913)
2006
39
Calcinosis cutis: a rare complication of chronic myeloid leukemia. (16521880)
2006
40
Fibroblast growth factor-23 mutants causing familial tumoral calcinosis are differentially processed. (15961556)
2005
41
Calcinosis universalis: a rare diagnosis. (15931036)
2005
42
An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia. (15590700)
2005
43
Heredofamilial brain calcinosis syndrome. (15887432)
2005
44
A case of massive dystrophic cardiac calcinosis with increased bone resorption markers: a novel pathophysiologic link? (15476567)
2004
45
Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis. (15133511)
2004
46
Tumoral calcinosis of the articular disc of the temporomandibular joint: a rare entity. (15573357)
2004
47
Tumoral calcinosis appearances on skeletal scintigraphy. (15545892)
2004
48
Immunohistochemical expression of transforming growth factor beta3 in calcinosis in a patient with systemic sclerosis and CREST syndrome. (11069531)
2000
49
Soft-tissue chondroma as a cause of calcinosis in a patient with CREST syndrome. (8457459)
1993
50
Calcinosis cutis in a burn scar. (6490992)
1984

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
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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