has modifier Autosomal recessive inheritance hypercalcemia, infantile autosomal recessive disease 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. ICD10:E83.5 MONDO:0007749 NCIT:C129734 Orphanet:300547 SCTID:34225008 UMLS:C4329374 UMLS:CN203398 autosomal recessive hypercalcemia, infantile familial infantile hypercalcemia with suppressed intact parathyroid hormone hypercalcemia, idiopathic, of infancy hypercalcemia, infantile hypercalcemia, infantile, autosomal recessive idiopathic infantile hypercalcemia rare genetic parathyroid disease and phosphocalcic metabolism disorder rare parathyroid disease and phosphocalcic metabolism anomaly nephropathy secondary to a storage or other metabolic disease