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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
Related
hypophosphatasia
General
enzyme deficiency
Database Correlations
OMIM correlations
MORBIDMAP 171760
References
OMIM :accession 241500