familial hypophosphatasia

Etiology

• low circulating alkaline phosphatase

Genetics

• associated with defects in ALPL

Clinical manifestations

• defective skeletal mineralization
• perinatal, infantile, childhood & adult types
• perinatal form is the most severe & is almost always fatal

Laboratory

• low serum phosphate
• ALPL gene mutation

More general terms

• enzyme deficiency

Additional terms

• hypophosphatasia

Database

• OMIM: https://mirror.omim.org/entry/146300
• OMIM: https://mirror.omim.org/entry/171760
• OMIM: https://mirror.omim.org/entry/241500
• OMIM: https://mirror.omim.org/entry/241510