MCID: TMR002
MIFTS: 22

Tumoral Calcinosis, Hyperphosphatemic malady

Cancer diseases category

Summaries for Tumoral Calcinosis, Hyperphosphatemic

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46OMIM, 32MalaCards
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MalaCards: Tumoral Calcinosis, Hyperphosphatemic is related to hyperphosphatemic familial tumoral calcinosis and hyperphosphatemic familial tumoral calcinosis, galnt3-related. An important gene associated with Tumoral Calcinosis, Hyperphosphatemic is KL (klotho), and among its related pathways are Signaling by the B Cell Receptor (BCR) and Fc epsilon receptor (FCERI) signaling. The compound calcium have been mentioned in the context of this disorder. Related mouse phenotypes are other and limbs/digits/tail.

Description from OMIM:46 211900

Aliases & Classifications for Tumoral Calcinosis, Hyperphosphatemic

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46OMIM, 44Novoseek
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Classifications:

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


Aliases & Descriptions:

tumoral calcinosis, hyperphosphatemic 46 44


Related Diseases for Tumoral Calcinosis, Hyperphosphatemic

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



Diseases related to tumoral calcinosis, hyperphosphatemic

Clinical Features for Tumoral Calcinosis, Hyperphosphatemic

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46OMIM
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Clinical features from OMIM:

211900

Drugs & Therapeutics for Tumoral Calcinosis, Hyperphosphatemic

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Tumoral Calcinosis, Hyperphosphatemic

Search CenterWatch for Tumoral Calcinosis, Hyperphosphatemic

Genetic Tests for Tumoral Calcinosis, Hyperphosphatemic

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Anatomical Context for Tumoral Calcinosis, Hyperphosphatemic

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Animal Models for Tumoral Calcinosis, Hyperphosphatemic or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Tumoral Calcinosis, Hyperphosphatemic:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053959.0GALNT3, KL
2MP:00053718.7KL, FGF23, GALNT3
3MP:00053678.7FGF23, GALNT3, KL
4MP:00053818.6KL, GALNT3, FGF23
5MP:00053908.6GALNT3, KL, FGF23
6MP:00107718.5GALNT3, FGF23, KL
7MP:00053858.5KL, GALNT3, FGF23
8MP:00053898.4FGF23, GALNT3, KL

Publications for Tumoral Calcinosis, Hyperphosphatemic

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Genetic Variations for Tumoral Calcinosis, Hyperphosphatemic

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Tumoral Calcinosis, Hyperphosphatemic:

62
id Symbol AA change Variation ID SNP ID
1FGF23p.Ser71GlyVAR_023831
2KLp.His193ArgVAR_064554

Expression for genes affiliated with Tumoral Calcinosis, Hyperphosphatemic

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

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Pathways for genes affiliated with Tumoral Calcinosis, Hyperphosphatemic

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53Reactome
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Pathways related to Tumoral Calcinosis, Hyperphosphatemic according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
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9.0FGF23, KL
2
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9.0FGF23, KL
3
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9.0FGF23, KL
4
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9.0KL, FGF23
5
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9.0FGF23, KL
6
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9.0FGF23, KL
7
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9.0FGF23, KL
8
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9.0FGF23, KL

Compounds for genes affiliated with Tumoral Calcinosis, Hyperphosphatemic

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44Novoseek, 49PharmGKB, 11DrugBank, 24HMDB
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Compounds related to Tumoral Calcinosis, Hyperphosphatemic according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1calcium44 49 11 2411.5FGF23, GALNT3, KL

GO Terms for genes affiliated with Tumoral Calcinosis, Hyperphosphatemic

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1carbohydrate metabolic processGO:0059759.3GALNT3, KL
2positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayGO:0900809.2FGF23, KL
3phosphatidylinositol-mediated signalingGO:0480159.2FGF23, KL
4insulin receptor signaling pathwayGO:0082869.1FGF23, KL
5fibroblast growth factor receptor signaling pathwayGO:0085439.1FGF23, KL
6Fc-epsilon receptor signaling pathwayGO:0380959.0KL, FGF23
7epidermal growth factor receptor signaling pathwayGO:0071738.9FGF23, KL
8neurotrophin TRK receptor signaling pathwayGO:0480118.7FGF23, KL

Products for genes affiliated with Tumoral Calcinosis, Hyperphosphatemic

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Tumoral Calcinosis, Hyperphosphatemic

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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