PedAM
Pediatric Disease Annotations & Medicines
| Disease | hyperphosphatemia |
| Phenotype | C0006663|calcinosis |
| Sentences | 2 |
| PubMedID- 26266068 | Primary tumoral calcinosis without hyperphosphatemia is the most common clinical subtype [13], but approximately 30% of cases are familial and associated with hyperphosphatemia due to the mutation of a gene that encodes fibroblast growth factor-23 or n-acetyl-galactosaminyl transferase enzyme [2, 14]. |
| PubMedID- 21854633 | Gain-of-function mutations of fgf23 lead to autosomal dominant hypophosphatemia/osteomalacia [5], while its loss-of-function mutations are causative of recessive familial tumoral calcinosis with hyperphosphatemia [6,7]. |
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