Vitamin D Dependent Rickets Type 1a Cn283242
An autosomal recessive disorder where the body cannot properly activate vitamin D, causing rickets in infancy. Lifelong supplementation with active vitamin D forms is the standard treatment.
Key facts at a glance
- ICD-10
- E88.9
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Tetany due to hypocalcemia
Fatigue or weight changes
(metabolic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Rachitic rosary
(musculoskeletal)Bone pain
(musculoskeletal)Enamel hypoplasia
(dental)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
Calcitriol therapy
Active vitamin D3 (calcitriol) replacement therapy is the primary treatment for type 1a rickets caused by 1-alpha-hydroxylase deficiency, providing the active form directly.
Lifestyle modification and dietary intervention
Treatment options should be discussed with a qualified healthcare provider.
Phosphate supplementation
Oral phosphate replacement to address hypophosphatemia, typically given alongside calcitriol to prevent secondary hyperparathyroidism worsening.
Additional treatment options
Safe sun exposure recommendations
Moderate, regular sun exposure to support vitamin D production while implementing skin protection measures to prevent photodamage.
lifestylePhysical therapy intervention
Age-appropriate physical therapy to address muscle weakness, improve gait abnormalities, and support normal motor development in affected children.
physical_therapyRegular pediatric monitoring
Comprehensive monitoring of growth parameters, skeletal development, biochemical markers, and developmental milestones in children with type 1a rickets.
monitoringWhen 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 Vitamin D Dependent Rickets Type 1a Cn283242?
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.
Holick MF, Bilezikian JP, Weaver CM. Evaluation, treatment and prevention of vitamin D deficiency: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab. 2011;96(7):1911-1930.
Miller WL. Genetic disorders of vitamin D metabolism and hereditary rickets. Pediatr Clin North Am. 2019;66(3):567-583.
Kitanaka S, Sato U, Maruyama K, Igarashi T. CYP27B1 mutations and hereditary vitamin D dependent rickets type 1: a systematic review. J Bone Miner Metab. 2018;36(4):421-430.
Thakker RV, Bringhurst FR, Juppner H. Disorders of bone and mineral metabolism. In: Melmed S, ed. Williams Textbook of Endocrinology. 14th ed. Elsevier; 2020:1263-1342.
Medication Comparisons
Compare medications used to treat Vitamin D Dependent Rickets Type 1a Cn283242. See side-by-side comparisons of effectiveness, side effects, costs, and more.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy