Vitamin D hydroxylation-deficient rickets, type 1B

Definition

An autosomal recessive form of rickets caused by inactivating mutation(s) in the CYP2R1 gene, encoding vitamin D 25-hydroxylase, the hepatic enzyme that converts vitamin D to 25-hydroxyvitamin D, the precursor of 1,25-dihydroxyvitamin D (calcitriol). The condition is characterized by reduced serum concentrations of 25-hydroxyvitamin D, hypophosphatemia, hypocalcemia with secondary hyperparathyroidism and elevated serum alkaline phosphatase, and by failure to thrive, seizures, muscle weakness, and rickets.

Also known as CYP2R1 vitamin D-dependent rickets, type 1, rickets due to defect in vitamin D 25-hydroxylation deficiency, Vitam D hydroxylation-deficient rickets type 1b, vitamin D 25-Hydroxylase deficiency, vitamin D hydroxylation-deficient rickets type 1b, vitamin D hydroxylation-deficient rickets, type 1B, vitamin D-dependent rickets, type 1 caused by mutation in CYP2R1 — per MONDO

Also identified as

• DOID 0080887 per MONDO
• MESH C564005 per MONDO
• NCIT C131074 per MONDO
• OMIM 600081 per MONDO
• UMLS C1838657 per MONDO

Affected Organs