X-linked chronic idiopathic intestinal pseudo-obstruction
MIM.300048 Xq28
Chronic idiopathic intestinal pseudoobstruction (CIIP) is caused by severe abnormality of gastrointestinal motility.
The patients have recurrent symptoms and signs of intestinal obstruction without any mechanical lesion. CIIP can be secondary to several disorders such as Chagas disease, myxedema, or Duchenne muscular dystrophy (MIM.310200).
Among primary forms of CIIP are those associated with defects of enteric neuronal cells. One genetic form of CIIP results, not from lack of migration of enteric ganglion cells, but from qualitative abnormalities of the enteric ganglia and nerve fibers, suggesting the presence of a differentiation defect.
Etiology
germline mutation in the gene encoding filamin A (FLNA) (MIM.300017)
References
Gargiulo A, Auricchio R, Barone MV, Cotugno G, Reardon W, Milla PJ, Ballabio A, Ciccodicola A, Auricchio A. Filamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvement. Am J Hum Genet. 2007 Apr;80(4):751-8. PMID: 17357080