Home Contact Sitemap

PedAM

Pediatric Disease Annotations & Medicines




Disease hyperphosphatemia
Symptom C0006663|calcinosis
Sentences 2
PubMedID- 21854633 Gain-of-function mutations of fgf23 lead to autosomal dominant hypophosphatemia/osteomalacia .
PubMedID- 26266068 Primary tumoral calcinosis without hyperphosphatemia is the most common clinical subtype , 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 .

Page: 1