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References OMIM Gene GeneReviews HGMD HGNC
last update : 27-02-2013
Symbol CIPO2
Location Xq28
Name intestinal pseudoobstruction, neuronal, chronic idiopathic 2
Other name(s) congenital idiopathic intestinal pseudoobstruction
Corresponding gene FLNA
Other symbol(s) CIIPX, IPOX
Main clinical features
  • recurrent symptoms and signs of intestinal obstruction without any mechanical lesion
  • morphological abnormalities of argyrophil neurons in the myenteric plexus
  • associated with short small bowel, malrotation and pyloric hypertrophy
  • Genetic determination sex linked
    Related entries including congenital short bowel syndrome
    Function/system disorder digestive tract/gastrointestinal
    Type disease
    Gene mutationChromosome rearrangementEffectComments
    deletion   abnormal protein/loss of function