CYP24A1 Gene
Pediatric Endocrinology Terminology
Autosomal Recessive Infantile Hypercalcemia
A condition caused by autosomal recessive loss-of-function mutation(s) in the CYP24A1 or SLC34A1 gene, encoding mitochondrial 1,25-dihydroxyvitamin D(3) 24-hydroxylase, and sodium-dependent phosphate transport protein 2A, respectively. This condition is characterized by vomiting, polyuria, dehydration, and failure to thrive, accompanied by hypercalcemia, suppressed parathyroid hormone, and nephrocalcinosis.
A condition caused by autosomal recessive loss-of-function mutation(s) in the CYP24A1 or SLC34A1 gene, encoding mitochondrial 1,25-dihydroxyvitamin D(3) 24-hydroxylase, and sodium-dependent phosphate transport protein 2A, respectively. This condition is characterized by vomiting, polyuria, dehydration, and failure to thrive, accompanied by hypercalcemia, suppressed parathyroid hormone, and nephrocalcinosis.
Autosomal Recessive Infantile Hypercalcemia
Autosomal Recessive Infantile Hypercalcemia
C129734
CL513022
Disease or Syndrome
Idiopathic Infantile Hypercalcemia
NICHD
Genetic Disorder
NICHD Terminology