vitamin D-dependent rickets type 1A

info · Genetic

A vitamin D-dependent rickets that is characterized by abnormally low levels of calcitriol and that has_material_basis_in mutation in the gene encoding 25-hydroxyvitamin D3-1-alpha-hydroxylase (CYP27B1) on chromosome 12q13.

Signs and symptoms

Delayed eruption of teeth
Elevated circulating alkaline phosphatase concentration
Renal phosphate wasting
Postnatal growth retardation
Muscle weakness
Elevated circulating parathyroid hormone level
Generalized aminoaciduria
Rickets
Reduced subcutaneous adipose tissue
Hypocalcemia