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Hyperphosphatemic tumoral calcinosis
Hyperphosphatemic tumoral calcinosis
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
FAMILIAL HYPERPHOSPHATEMIC TUMORAL CALCINOSIS/HYPERPHOSPHATEMIC HYPEROSTOSIS SYNDROME
306661
GALNT3
Unknown
15133511
21347749
Orphanet
Mucin type O-glycan biosynthesis
Other types of O-glycan biosynthesis
Metabolic pathways
FGFR3c ligand binding and activation
Defective GALNT3 causes familial hyperphosphatemic tumoral calcinosis (HFTC)
O-linked glycosylation of mucins
+3 more
KL
Unknown
17710231
22142751
Orphanet
Pentose and glucuronate interconversions
Ascorbate and aldarate metabolism
Metabolic pathways
Longevity regulating pathway
Parathyroid hormone synthesis, secretion and action
Endocrine and other factor-regulated calcium reabsorption
PI3K Cascade
PIP3 activates AKT signaling
FGFR1c and Klotho ligand binding and activation
Constitutive Signaling by Aberrant PI3K in Cancer
Phospholipase C-mediated cascade: FGFR1
Downstream signaling of activated FGFR1
SHC-mediated cascade:FGFR1
PI-3K cascade:FGFR1
FRS-mediated FGFR1 signaling
Negative regulation of FGFR1 signaling
RAF/MAP kinase cascade
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
+15 more
All
3
Causal
1
Unknown
2
Select all
Clear
ClinVar
0
Orphanet
2
Disgenet
0
CTD
0
HPO
0
GWAS catalog
0
GenCC
0
ClinGen
0
Related Diseases
Diseases that share the most curated genes with Hyperphosphatemic tumoral calcinosis.
5
View disease cluster →
Hypercalcemic tumoral calcinosis
3 shared genes
KL, GALNT3, FGF23
Related via 3 shared genes including KL, GALNT3, FGF23.
Tumoral calcinosis
3 shared genes
KL, GALNT3, FGF23
Related via 3 shared genes including KL, GALNT3, FGF23.
Cerebral embolism
1 shared gene
KL
Related via 1 shared gene including KL.
Intracranial embolism
1 shared gene
KL
Related via 1 shared gene including KL.
Idiopathic infantile hypercalcemia
1 shared gene
KL
Related via 1 shared gene including KL.
1
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