MCID: TMR002
MIFTS: 21

Tumoral Calcinosis, Hyperphosphatemic malady

Cancer category

Summaries for Tumoral Calcinosis, Hyperphosphatemic

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47OMIM, 33MalaCards
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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:47 211900

Aliases & Classifications for Tumoral Calcinosis, Hyperphosphatemic

Sources:
47OMIM, 45Novoseek
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Classifications:

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


Aliases & Descriptions:

tumoral calcinosis, hyperphosphatemic 47 45


Related Diseases for Tumoral Calcinosis, Hyperphosphatemic

Sources:
17GeneCards, 18GeneDecks
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Diseases in the hyperphosphatemic familial tumoral calcinosis family:

tumoral calcinosis, hyperphosphatemic

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

(show all 15)
idRelated DiseaseScoreTop Affiliating Genes
1hyperphosphatemic familial tumoral calcinosis31.1FGF23, GALNT3
2hyperphosphatemic familial tumoral calcinosis, galnt3-related10.3
3hyperphosphatemic familial tumoral calcinosis, kl-related10.3
4rickets10.0FGF23
5hypercalcemia10.0FGF23
6hyperostosis10.0FGF23, GALNT3
7hypervitaminosis d10.0FGF23, KL
8hypophosphatemia10.0KL, FGF23
9osteomalacia10.0KL, FGF23
10pulmonary emphysema10.0KL, FGF23
11hyperparathyroidism10.0KL, FGF23
12x-linked hypophosphatemia10.0FGF23, GALNT3, KL
13hyperphosphatemia10.0KL, FGF23, GALNT3
14calcinosis10.0FGF23, GALNT3, KL
15osteoporosis10.0KL, FGF23

Graphical network of diseases related to Tumoral Calcinosis, Hyperphosphatemic:



Diseases related to tumoral calcinosis, hyperphosphatemic

Clinical Features for Tumoral Calcinosis, Hyperphosphatemic

Sources:
47OMIM
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Clinical features from OMIM:

211900

Drugs & Therapeutics for Tumoral Calcinosis, Hyperphosphatemic

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Tumoral Calcinosis, Hyperphosphatemic

Drug clinical trials:

Search ClinicalTrials for Tumoral Calcinosis, Hyperphosphatemic

Search NIH Clinical Center for Tumoral Calcinosis, Hyperphosphatemic

Search CenterWatch for Tumoral Calcinosis, Hyperphosphatemic

Genetic Tests for Tumoral Calcinosis, Hyperphosphatemic

Anatomical Context for Tumoral Calcinosis, Hyperphosphatemic

Animal Models for Tumoral Calcinosis, Hyperphosphatemic or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Tumoral Calcinosis, Hyperphosphatemic:

37
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

Sources:
51PubMed
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Articles related to Tumoral Calcinosis, Hyperphosphatemic:

idTitleAuthorsYear
1
Hyperphosphatemic tumoral calcinosis. (23645700)
2013
2
Miscellaneous non-inflammatory musculoskeletal conditions. Hyperphosphatemic familial tumoral calcinosis (FGF23, GALNT3 and I+Klotho). (22142751)
2011
3
Novel mutations in GALNT3 causing hyperphosphatemic familial tumoral calcinosis. (21347749)
2011
4
Hyperphosphatemic tumoral calcinosis: a 10-year follow-up. (21528811)
2011
5
Recurrent primary hyperphosphatemic tumoral calcinosis: a case report. (21053587)
2010
6
GALNT3, a gene associated with hyperphosphatemic familial tumoral calcinosis, is transcriptionally regulated by extracellular phosphate and modulates matrix metalloproteinase activity. (18976705)
2009
7
Nonfamilial hyperphosphatemic tumoral calcinosis with ulnar neuropathy. (19073370)
2009
8
Hyperphosphatemic familial tumoral calcinosis caused by a mutation in GALNT3 in a European kindred. (16528452)
2006

Genetic Variations for Tumoral Calcinosis, Hyperphosphatemic

Expression for genes affiliated with Tumoral Calcinosis, Hyperphosphatemic

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

Search GEO for disease gene expression data for Tumoral Calcinosis, Hyperphosphatemic.

Pathways for genes affiliated with Tumoral Calcinosis, Hyperphosphatemic

Sources:
54Reactome
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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

Sources:
45Novoseek, 50PharmGKB, 11DrugBank, 24HMDB
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Compounds related to Tumoral Calcinosis, Hyperphosphatemic according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1calcium45 50 11 2411.5FGF23, GALNT3, KL

GO Terms for genes affiliated with Tumoral Calcinosis, Hyperphosphatemic

Sources:
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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  • Proteins
  • Lysates
  • Antibodies

Sources for Tumoral Calcinosis, Hyperphosphatemic

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet