vitamin D hydroxylation-deficient rickets, type 1B
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.
MONDO:0002525
inherited lipid metabolism disorder
is_a
MONDO:0009924
vitamin D-dependent rickets, type 1
is_a
MONDO:0045012
steroid metabolism disease
is_a
MONDO:0800096
abnormal mineralization disorder
is_a
CYP2R1 vitamin D-dependent rickets, type 1
exact
VDDR1B
related
Vitam D hydroxylation-deficient rickets type 1b
exact
rickets due to defect in vitamin D 25-hydroxylation deficiency
exact
vitamin D 25-Hydroxylase deficiency
exact
vitamin D hydroxylation-deficient rickets type 1b
exact
vitamin D hydroxylation-deficient rickets, type 1B
exact
vitamin D-dependent rickets, type 1 caused by mutation in CYP2R1
exact