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Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked

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Description

Chronic idiopathic intestinal pseudoobstruction (CIIP) is caused by severe abnormality of gastrointestinal motility. Patients have recurrent symptoms and signs of intestinal obstruction without any mechanical lesion (Auricchio et al., 1996). Some primary forms of CIIP are caused by defects of enteric neuronal cells: see Hirschsprung disease (see, e.g., HSCR1; 142623) and autosomal recessive visceral neuropathy (243180) (Tanner et al., 1976).

OMIM

  • Mode of Inheritance

  • X-linked recessive inheritance

VARIANTS

16

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Genes

External Links

  • OMIM

    300048

  • Orphanet
  • HPO
  • Medgen

    C2746068

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