Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked

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;

Détails

Origin ID

300048;

UMLS CUI

C2746068;

Automatic exact mappings (from CISMeF team)
- Congenital idiopathic intestinal pseudoobstruction [MeSH concept]
- congenital idiopathic intestinal pseudoobstruction [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Chronic idiopathic intestinal pseudo-obstruction [ICD-11 More detail]
DO Cross reference
- X-linked chronic idiopathic intestinal pseudo-obstruction [DO Concept]
Genes related to phenotype
- Filamin a [OMIM gene]
HPO term(s)
- Abdominal distention [HPO term]
- Abnormal facial shape [HPO term]
- Congenital shortened small intestine [HPO term]
- Downslanted palpebral fissures [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties in infancy [HPO term]
- Hydronephrosis [HPO term]
- Hypertelorism [HPO term]
- Increased mean platelet volume [HPO term]
- Increased size of the mandible [HPO term]
- Infantile onset [HPO term]
- Intestinal malrotation [HPO term]
- Intestinal pseudo-obstruction [HPO term]
- Low-set ears [HPO term]
- Patent ductus arteriosus [HPO term]
- Pyloric stenosis [HPO term]
- Recurrent symptoms and signs of intestinal obstruction [HPO term]
- Seizure [HPO term]
- Smooth philtrum [HPO term]
- Spastic diplegia [HPO term]
- Thrombocytopenia [HPO term]
- Vomiting [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Chronic intestinal pseudoobstruction [ORDO Disease]
- Congenital short bowel syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital idiopathic intestinal pseudoobstruction [MeSH concept]
- congenital idiopathic intestinal pseudoobstruction [MeSH Supplementary Concept]

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