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Alagille syndrome

Disease definition

A rare syndrome variably characterized by chronic cholestasis due to paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis, vertebrae segmentation anomalies, characteristic facies, posterior embryotoxon/anterior segment abnormalities, pigmentary retinopathy, and dysplastic kidneys.

ORPHA:52

Classification level: Disorder
  • Synonym(s):
    • Alagille-Watson syndrome
    • Arteriohepatic dysplasia
    • Syndromic bile duct paucity
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: All ages
  • ICD-10: Q44.7
  • OMIM: 118450  610205
  • UMLS: C0085280
  • MeSH: D016738
  • GARD: 804
  • MedDRA: 10053870

Detailed information

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.