Hypophosphatemic familial tumoral calcinosis is an autosomal recessive disorder of phosphate handling that is characterized by hyperphosphatemia and tumor calcifications.
Calcinosis | |
Calcinosis tumoralis is caused by prolonged hyperphosphatemia. |
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Hyperphosphatemia | |
Hyperphosphatemia is the result of dysregulation of renal phosphat handling with increased reabsorption. |
Familial tumoral calcinosis | ||||
Familial normophosphatemic tumoral calcinosis | ||||
Hyperphosphatemic familial tumoral calcinosis | ||||
FGF23 | ||||
GALNT3 | ||||
KL | ||||
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28. |
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35. |
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36. |
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38. |
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44. |
OMIM.ORG article Omim 211900 |