MCID: TMR002
MIFTS: 25

Tumoral Calcinosis, Hyperphosphatemic malady

Genetic diseases, Cancer diseases, Rare diseases, Skin diseases, Endocrine diseases categories
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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 FGFR and Class I MHC mediated antigen processing and presentation. 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

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47OMIM, 45Novoseek
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Classifications:



Aliases & Descriptions:

tumoral calcinosis, hyperphosphatemic 47 45


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

Symptoms for Tumoral Calcinosis, Hyperphosphatemic

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47OMIM
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Clinical features from OMIM:

211900

Drugs & Therapeutics for Tumoral Calcinosis, Hyperphosphatemic

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Tumoral Calcinosis, Hyperphosphatemic

Search NIH Clinical Center 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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37MGI
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MGI Mouse Phenotypes related to Tumoral Calcinosis, Hyperphosphatemic:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053959.2KL, GALNT3
2MP:00053718.7FGF23, GALNT3, KL
3MP:00053678.7FGF23, GALNT3, KL
4MP:00053818.7KL, GALNT3, FGF23
5MP:00053908.7FGF23, GALNT3, KL
6MP:00107718.6KL, GALNT3, FGF23
7MP:00053898.6FGF23, GALNT3, KL
8MP:00053858.5FGF23, GALNT3, KL
9MP:00053768.5FGF23, GALNT3, KL
10MP:00053788.2FGF23, GALNT3, KL

Publications for Tumoral Calcinosis, Hyperphosphatemic

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Variations for Tumoral Calcinosis, Hyperphosphatemic

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Tumoral Calcinosis, Hyperphosphatemic:

64
id Symbol AA change Variation ID SNP ID
1FGF23p.Ser71GlyVAR_023831
2KLp.His193ArgVAR_064554

Clinvar genetic disease variations for Tumoral Calcinosis, Hyperphosphatemic:

1 (show all 16)
id Gene Name Type Significance SNP ID Assembly Location
1FGF23NM_020638.2(FGF23): c.211A> G (p.Ser71Gly)single nucleotide variantPathogenicrs104894342GRCh37Chr 12, 4488538: 4488538
2FGF23NM_020638.2(FGF23): c.287T> C (p.Met96Thr)single nucleotide variantPathogenicrs104894343GRCh37Chr 12, 4481788: 4481788
3FGF23NM_020638.2(FGF23): c.386C> T (p.Ser129Phe)single nucleotide variantPathogenicrs104894344GRCh37Chr 12, 4479879: 4479879
4GALNT3GALNT3, IVS7, G-A, +1single nucleotide variantPathogenic
5GALNT3NM_004482.3(GALNT3): c.484C> T (p.Arg162Ter)single nucleotide variantPathogenicrs137853086GRCh37Chr 2, 166626727: 166626727
6GALNT3GALNT3, IVS7DS, G-A, +5single nucleotide variantPathogenic
7GALNT3GALNT3, IVS1AS, A-T, -2single nucleotide variantPathogenic
8GALNT3NM_004482.3(GALNT3): c.1774C> T (p.Gln592Ter)single nucleotide variantPathogenicrs137853087GRCh37Chr 2, 166606257: 166606257
9GALNT3NM_004482.3(GALNT3): c.1076C> A (p.Thr359Lys)single nucleotide variantPathogenicrs137853091GRCh37Chr 2, 166615372: 166615372
10GALNT3NM_004482.3(GALNT3): c.966T> G (p.Tyr322Ter)single nucleotide variantPathogenicrs137853088GRCh37Chr 2, 166615953: 166615953
11GALNT3NM_004482.3(GALNT3): c.1441C> T (p.Gln481Ter)single nucleotide variantPathogenicrs137853089GRCh37Chr 2, 166611525: 166611525
12GALNT3NM_004482.3(GALNT3): c.815C> A (p.Thr272Lys)single nucleotide variantPathogenicrs137853090GRCh37Chr 2, 166618438: 166618438
13GALNT3GALNT3, 1-BP INS, 803CinsertionPathogenic
14GALNT3GALNT3, IVS8, G-A, +1single nucleotide variantPathogenic
15GALNT3GALNT3, 1-BP DEL, 677CdeletionPathogenic
16GALNT3NM_004482.3(GALNT3): c.1720T> G (p.Cys574Gly)single nucleotide variantPathogenicrs267606841GRCh37Chr 2, 166606311: 166606311

Expression for genes affiliated with Tumoral Calcinosis, Hyperphosphatemic

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2BioGPS, 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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50PathCards, 55Reactome, 30KEGG, 60Thomson Reuters, 38NCBI BioSystems Database
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Pathways related to Tumoral Calcinosis, Hyperphosphatemic according to GeneCards/GeneDecks:

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

Compounds for genes affiliated with Tumoral Calcinosis, Hyperphosphatemic

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45Novoseek, 51PharmGKB, 24HMDB, 11DrugBank
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Compounds related to Tumoral Calcinosis, Hyperphosphatemic according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1calcium45 51 24 1111.5FGF23, 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 9)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayGO:0900809.2FGF23, KL
2phosphatidylinositol-mediated signalingGO:0480159.2FGF23, KL
3insulin receptor signaling pathwayGO:0082869.2FGF23, KL
4fibroblast growth factor receptor signaling pathwayGO:0085439.1FGF23, KL
5Fc-epsilon receptor signaling pathwayGO:0380959.1KL, FGF23
6epidermal growth factor receptor signaling pathwayGO:0071739.0FGF23, KL
7carbohydrate metabolic processGO:0059759.0GALNT3, KL
8innate immune responseGO:0450879.0FGF23, KL
9neurotrophin TRK receptor signaling pathwayGO:0480118.9FGF23, KL

Products for genes affiliated with Tumoral Calcinosis, Hyperphosphatemic

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  • Antibodies
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Sources for Tumoral Calcinosis, Hyperphosphatemic

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet