" /> Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked - CISMeF





Preferred Label : Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked;

Symbol : CIIPX;

CISMeF acronym : CIIP; CIIPX; IPOX;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Congenital idiopathic intestinal pseudoobstruction; Intestinal pseudoobstruction, neuronal, chronic idiopathic, with central nervous system involvement; IPOX; CIIP;

Included titles and symbols : Congenital short bowel syndrome, X-linked;

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).;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the filamin A gene (FLNA, 300017.0025);

Prefixed ID : #300048;

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02/05/2025


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