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;
Origin ID : 300048;
UMLS CUI : C2746068;
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
DO Cross reference
Genes related to phenotype
HPO term(s)
ORDO concept(s)
Semantic type(s)
UMLS correspondences (same concept)