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Cardiology · Cardiology / Genetic cardiology

Alagille syndrome

also: Arteriohepatic dysplasia

Multisystem syndrome with cholestasis, pulmonary artery stenosis and butterfly vertebrae.

Specialty
Cardiology
Subspecialty
Cardiology / Genetic cardiology
Sex & age distribution
Male: affected; Female: affected equally; Children: yes, infancy
Gene(s) involved
JAG1, NOTCH2
Alternative names & eponyms
Arteriohepatic dysplasia

Etiology & mechanism

Notch signaling pathway defects.

Gene(s) involved (2)

Symptoms & signs (9)

In plain terms, someone with Alagille 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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