Living with Crigler-Najjar syndrome, type II
A rare liver condition with persistent jaundice, because the body has too little of an enzyme that clears bilirubin.
Understanding Crigler-Najjar syndrome, type II
The main symptom is ongoing jaundice, a yellowing of the skin, mucous membranes, and whites of the eyes. It may show up in infancy, especially when a baby is sick or has not eaten for a long time, but some people are not diagnosed until adulthood. Rarely, brain damage from bilirubin (kernicterus) can occur, especially during illness, long fasting, or anesthesia. UGT1A1 gene changes can also cause CN-1 and Gilbert syndrome, so genetic testing is sometimes needed.
Signs & symptoms
Symptoms vary from person to person. GARD lists this as the most common:
- Long-lasting yellowing of the skin and eyes (jaundice)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include digestive system specialists and genetic specialists.
- 3Consider genetic testing
Changes in UGT1A1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Digestive system specialists (gastroenterologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
It is caused by changes in the UGT1A1 gene. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: arias syndrome; bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2; bilirubin-ugt deficiency type 2; crigler najjar syndrome, type 2; crigler-najjar syndrome type 2; crigler-najjar syndrome type ii
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Crigler-Najjar syndrome, type II.
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