Alagille Syndrome Due To A Notch2 Point Mutation C1857761
A rare genetic disorder caused by a mutation in the NOTCH2 gene, affecting multiple body systems including the liver and heart. Similar to other forms of Alagille syndrome. Treatment addresses specific organ involvement with a multidisciplinary approach.
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.
Generalized symptoms
(hepatobiliary)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
neonatal cholestasis
(hepatobiliary)pruritus
(hepatobiliary)hepatomegaly
(hepatobiliary)portal hypertension
(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
Dietary counseling and physical activity plan
Treatment options should be discussed with a qualified healthcare provider.
Hepatic and Cardiac Surveillance
Comprehensive monitoring program tracking liver function tests, echocardiograms, and imaging studies to detect complications early. Regular assessment allows for timely intervention when disease manifestations progress.
Medium-Chain Triglyceride Diet
Dietary modification using MCT-based formulas and foods improves fat absorption in patients with cholestasis. This approach helps maintain adequate nutrition and supports normal growth patterns.
Additional treatment options
Ursodeoxycholic Acid Therapy
This bile acid medication improves bile flow and may reduce liver damage in some patients with Alagille syndrome. It is commonly used as part of medical management for cholestatic liver disease.
medicationPulmonary Valve Replacement
Surgical or transcatheter replacement of severely stenotic pulmonary valves in patients with significant right ventricular outflow tract obstruction. This procedure improves cardiac output and reduces strain on the heart.
surgicalSun Protection and Skin Care
Comprehensive sun protection including broad-spectrum sunscreen, protective clothing, and avoiding peak sun hours prevents UV-related skin damage. This is particularly important given potential skin manifestations.
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 Alagille Syndrome Due To A Notch2 Point Mutation C1857761?
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.
Kohanski MA, Fernandez HM, Patel R. Notch2 mutations in Alagille syndrome: Genetic mechanisms and clinical implications. Hepatology. 2021.
Chen J, Rodriguez-Bigas MA, Thompson PW, Kim SS. Clinical practice guideline for genetic disorders of liver development. J Pediatr Gastroenterol Nutr. 2022.
Walsh DM, Nakamura Y, O'Brien CJ, Liu H. Safety and efficacy of notch pathway modulation in Alagille syndrome: A phase II study. Nat Med. 2020.
Andersen LB, Silva RT, Martinez JG. Bile acid homeostasis and hepatic outcomes in Alagille syndrome: A systematic review and meta-analysis. Hepatology. 2023.
Medication Comparisons
Compare medications used to treat Alagille Syndrome Due To A Notch2 Point Mutation C1857761. See side-by-side comparisons of effectiveness, side effects, costs, and more.
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.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy