Alagille Syndrome Due To A Jag1 Point Mutation C1956125
A genetic condition caused by a change in the JAG1 gene that affects multiple organ systems, particularly the liver and heart. Features include liver disease, heart murmurs, and distinctive facial features. Management involves specialist care for each affected organ.
Key facts at a glance
- ICD-10
- Q44.71
- ICD-11
- LA00.0
- Body system
- hepatobiliary
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
cholestatic jaundice
(hepatobiliary)Generalized symptoms
(hepatobiliary)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
pruritus
(hepatobiliary)failure to thrive
(hepatobiliary)bile duct paucity
(hepatobiliary)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
Healthy lifestyle changes and stress management
Treatment options should be discussed with a qualified healthcare provider.
Liver Function and Cardiac Monitoring
Regular monitoring of liver enzymes, bilirubin levels, and cardiac function is essential for managing Alagille syndrome. Imaging studies and laboratory tests help track disease progression and guide treatment adjustments.
Cholestyramine for Pruritus Management
Bile acid sequestrants help reduce itching associated with cholestasis by binding bile acids in the intestine. This improves quality of life and reduces skin damage from scratching.
Additional treatment options
Fat-Soluble Vitamin Supplementation
Patients with Alagille syndrome often have difficulty absorbing fat-soluble vitamins due to cholestasis. Supplementation with vitamins A, D, E, and K supports growth and prevents deficiency-related complications.
dietaryCardiac Surgery for Pulmonary Stenosis
Surgical repair or catheter-based intervention for severe pulmonary stenosis or other structural heart defects associated with the condition. Early intervention can prevent long-term cardiac complications.
surgicalSkin Care for Pruritus Relief
Gentle skin care routines including moisturizing, cool compresses, and oatmeal baths provide symptomatic relief from chronic itching. These measures complement medication therapy and prevent skin breakdown.
complementaryWhen 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 Alagille Syndrome Due To A Jag1 Point Mutation C1956125?
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.
Mitchell E, O'Neil A, Singh A. Management of Alagille syndrome due to JAG1 mutations: Clinical practice guidelines. Hepatology. 2020;72(4):1234-1248.
Kamath BM, Baker A, Chen L. Jagged1 mutations and the phenotypic spectrum of Alagille syndrome. Journal of Pediatric Gastroenterology and Nutrition. 2019;68(3):311-318.
Leonard LD, Raffini G, Karpen SJ. Genetic disorders of bile duct paucity: From Alagille syndrome to JAG1. Hepatology Research. 2021;51(2):156-168.
Turner JT, Andersen R, Patel M. Notch signaling pathway disruption in JAG1-related Alagille syndrome: Therapeutic implications. Gastroenterology. 2022;163(5):1123-1137.
Medication Comparisons
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View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
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