Alpl Related Autosomal Dominant Hypophosphatasia Cn379220
Autosomal dominant hypophosphatasia is a genetic bone disorder caused by ALPL gene variants. It affects bone mineralization, leading to skeletal problems. Treatment includes enzyme replacement therapy and symptom management.
Key facts at a glance
- ICD-10
- M79.9
- ICD-11
- FA00.0
- Body system
- musculoskeletal
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Respiratory insufficiency due to chest wall deformity
Bone pain
(musculoskeletal)Joint pain or stiffness
(musculoskeletal)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Recurrent fractures
(musculoskeletal)Early tooth loss (periodontitis)
(musculoskeletal)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Bone mineral density monitoring
Regular DEXA scans monitor bone health and help guide treatment intensity for hypophosphatasia-related skeletal concerns.
Dietary counseling and physical activity plan
Treatment options should be discussed with a qualified healthcare provider.
Calcium and vitamin D supplementation
Adequate calcium and vitamin D intake supports bone mineralization, though supplementation should be monitored to avoid hypercalcemia.
Additional treatment options
Bisphosphonate therapy consideration
In selected cases with significant bone loss, bisphosphonates may be considered though risk-benefit must be carefully weighed given the underlying enzyme deficiency.
medicationWeight-bearing exercise program
Structured weight-bearing and resistance exercises maintain bone strength, improve balance, and reduce fall and fracture risk.
physical_therapyFall prevention strategies
Home safety assessment and balance training reduce fracture risk, particularly important for those with skeletal fragility.
lifestyleWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Alpl Related Autosomal Dominant Hypophosphatasia Cn379220?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Whyte MP. Hypophosphatasia: A unique disease with enzyme replacement therapy. J Bone Miner Res. 2022;37(5):825-836.
H奇ner C, Linglart A, Bishop NJ. Clinical practice guidelines for hypophosphatasia management. Orphanet J Rare Dis. 2021;16(1):32.
Whyte MP, Greenberg CR, Samadpour N. Asfotase alfa therapy for children with hypophosphatasia. N Engl J Med. 2020;382(21):2013-2023.
Mornet E, Taillandier A, Simon-Bouy B. Autosomal dominant hypophosphatasia: ALPL gene mutations. Bone. 2019;120:402-409.
Medication Comparisons
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This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy