MCID: FML091
MIFTS: 21

Familial Tumoral Calcinosis malady

Cancer diseases, Genetic diseases categories

Summaries for Familial Tumoral Calcinosis

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63Wikipedia, 32MalaCards
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Wikipedia:63 Normophosphatemic familial tumoral calcinosis is a cutaneous disorder characterized by cutaneous... more...

MalaCards: Familial Tumoral Calcinosis is related to calcinosis and hyperphosphatemic familial tumoral calcinosis. An important gene associated with Familial Tumoral Calcinosis is FGF23 (fibroblast growth factor 23), and among its related pathways are FGFR2c ligand binding and activation and FGFR1c and Klotho ligand binding and activation. The compounds calcitriol and tpck have been mentioned in the context of this disorder. Related mouse phenotypes are limbs/digits/tail and skeleton.

Aliases & Classifications for Familial Tumoral Calcinosis

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42NIH Rare Diseases
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Cancer diseases, Genetic diseases


Aliases & Descriptions:

familial tumoral calcinosis 42


Related Diseases for Familial Tumoral Calcinosis

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Familial Tumoral Calcinosis:



Diseases related to familial tumoral calcinosis

Clinical Features for Familial Tumoral Calcinosis

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Drugs & Therapeutics for Familial Tumoral Calcinosis

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Familial Tumoral Calcinosis

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Anatomical Context for Familial Tumoral Calcinosis

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Animal Models for Familial Tumoral Calcinosis or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Familial Tumoral Calcinosis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.2FGF23, GALNT3, TNF, KL
2MP:00053908.7FGF23, EGR1, GALNT3, TNF, KL
3MP:00107718.5KL, TNF, GALNT3, EGR1, FGF23

Publications for Familial Tumoral Calcinosis

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Genetic Variations for Familial Tumoral Calcinosis

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Expression for genes affiliated with Familial Tumoral Calcinosis

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

Search GEO for disease gene expression data for Familial Tumoral Calcinosis.

Pathways for genes affiliated with Familial Tumoral Calcinosis

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53Reactome
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Compounds for genes affiliated with Familial Tumoral Calcinosis

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44Novoseek, 59Tocris Bioscience, 11DrugBank, 24HMDB
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Compounds related to Familial Tumoral Calcinosis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1calcitriol44 59 11 2412.5FGF23, EGR1, TNF
2tpck449.4EGR1, TNF

GO Terms for genes affiliated with Familial Tumoral Calcinosis

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16Gene Ontology
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Biological processes related to Familial Tumoral Calcinosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayGO:0900809.8FGF23, KL
2positive regulation of neuron apoptotic processGO:0435259.7EGR1, TNF
3negative regulation of osteoblast differentiationGO:0456689.6FGF23, TNF

Products for genes affiliated with Familial Tumoral Calcinosis

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  • Antibodies
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  • Antibodies

Sources for Familial Tumoral 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