Gastroenterology · Gastroenterology / Hepatology
Crigler–Najjar syndrome
also: UGT1A1 deficiency, severe
Severe unconjugated hyperbilirubinemia from absent UGT1A1 activity.
- Specialty
- Gastroenterology
- Subspecialty
- Gastroenterology / Hepatology
- Sex & age distribution
- Male: affected; Female: affected, equal; Children: yes, neonatal onset
- Gene(s) involved
- UGT1A1
- Alternative names & eponyms
- UGT1A1 deficiency, severe
Etiology & mechanism
Complete or severe deficiency of bilirubin glucuronidation.
Gene(s) involved (1)
Symptoms & signs (6)
In plain terms, someone with Crigler–Najjar syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
2 shared
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hypotonia, intellectual disability
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hypotonia, intellectual disability
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hypotonia, intellectual disability
2 shared
EAST syndrome
intellectual disability, seizures
2 shared
Kleefstra syndrome
hypotonia, intellectual disability
Shares genes with
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