Alagille Syndrome Due To 20p12 Microdeletion C5679679
A genetic disorder affecting the liver, heart, and other organs due to a chromosome deletion. It can cause bile duct problems, heart defects, and characteristic facial features. Treatment focuses on managing symptoms in each affected system.
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.
Cholestasis
(hepatobiliary)Generalized symptoms
(hepatobiliary)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Jaundice
(hepatobiliary)Heart murmur
(hepatobiliary)Butterfly vertebrae
(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
Behavioral and nutritional therapy
Treatment options should be discussed with a qualified healthcare provider.
Hepatobiliary Assessment
Comprehensive liver function monitoring including bile acid levels, liver enzymes, and imaging for bile duct abnormalities. Essential for managing Alagille syndrome manifestations.
Cholestasis Management
Pharmacological approaches to manage bile flow and reduce pruritus associated with liver involvement. Treatment aims to improve quality of life and prevent complications.
Additional treatment options
Nutritional Support and Fat-Soluble Vitamin Supplementation
Specialized nutritional support addressing fat malabsorption and vitamin deficiencies common in Alagille syndrome. Includes medium-chain triglyceride supplementation and vitamin replacement.
dietaryCardiac Evaluation and Intervention
Echocardiography and cardiology assessment for pulmonary stenosis and other cardiac defects associated with the microdeletion. Interventional procedures if indicated.
procedureLiver Transplant Evaluation
Assessment for liver transplantation in cases of severe liver disease unresponsive to medical management. Multidisciplinary transplant team evaluation.
surgicalWhen 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 20p12 Microdeletion C5679679?
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.
Kohagen KL,Spinner NB, Loomes KM. American College of Medical Genetics and Genomics consensus statement on the diagnosis and management of Alagille syndrome due to 20p12 microdeletions. Genet Med. 2022.
Gilroy RK, Piccoli DA. Alagille syndrome associated with 20p12 microdeletion: A comprehensive review. Hepatology. 2020.
Mitchell E, Kamath BM, Baker AJ. Long-term outcomes in Alagille syndrome patients with 20p12 deletions: A prospective cohort study. J Pediatr Gastroenterol Nutr. 2021.
Hartley JL, Gleghorn L, Qamar F. Jagged1 gene defects and Alagille syndrome phenotype: Systematic review and meta-analysis. Nat Rev Genet. 2023.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy