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Arthrogryposis-renal dysfunction-cholestasis syndrome

Disease definition

Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity.

ORPHA:2697

  • Synonym(s):
    • ARC syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: Q89.7
  • OMIM: 208085  613404
  • UMLS: C1859722
  • MeSH: C535382
  • GARD: 794
  • MedDRA: -

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