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Disease Profile

Intestinal pseudoobstruction neuronal chronic idiopathic X-linked

Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.


US Estimated

Europe Estimated

Age of onset





Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.


Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.


dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.


recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.


Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.


Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.


Not applicable


Other names (AKA)

IPOX; Congenital idiopathic intestinal pseudoobstruction; CIIP;


Intestinal pseudo-obstruction is a condition characterized by impairment of the muscle contractions that move food through the digestive tract. The condition may arise from abnormalities of the gastrointestinal muscles themselves (myogenic) or from problems with the nerves that control the muscle contractions (neurogenic). When intestinal pseudo-obstruction occurs by itself, it is called primary or idiopathic (unknown cause) intestinal pseudo-obstruction. The disorder can also develop as a complication of another medical condition; in these cases, it is called secondary intestinal pseudo-obstruction. Individuals with this condition have symptoms that resemble those of an intestinal blockage (obstruction) but without any obstruction. It may be acute or chronic and is characterized by the presence of dilation of the bowel on imaging. The causes may be unknown or due to alterations (mutations) in the FLNA gene, other genes or are secondary to other conditions. It may be inherited in some cases. Intestinal pseudoobstruction neuronal chronic idiopathic X-linked is caused by alterations (mutations) in the FLNA gene which is located in the X chromosome.[1][2] There is no specific treatment but several medications and procedures may be used to treat the symptoms.[3]


This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
5%-29% of people have these symptoms
Congenital shortened small intestine
Pyloric stenosis
Spastic diplegia
Percent of people who have these symptoms is not available through HPO
Abdominal distention
Abdominal bloating
Abdominal swelling
Belly bloating

[ more ]

Abnormal facial shape
Unusual facial appearance
Downslanted palpebral fissures
Downward slanting of the opening between the eyelids
Feeding difficulties in infancy
Wide-set eyes
Widely spaced eyes

[ more ]

Increased mean platelet volume
Large platelets
Increased size of the mandible
Infantile onset
Onset in first year of life
Onset in infancy

[ more ]

Intestinal malrotation
Intestinal pseudo-obstruction
Low-set ears
Low set ears
Lowset ears

[ more ]

Patent ductus arteriosus
Smooth philtrum
Low platelet count
Throwing up
X-linked recessive inheritance


Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Intestinal pseudoobstruction neuronal chronic idiopathic X-linked. Click on the link to view a sample search on this topic.


  1. Intestinal pseudo-obstruction. Genetics Home Reference. October, 2010; https://ghr.nlm.nih.gov/condition/intestinal-pseudo-obstruction#definition. Accessed 7/17/2015.
  2. Camilleri M. Chronic intestinal pseudo-obstruction. UpToDate. July 29, 2013; https://www.uptodate.com/contents/chronic-intestinal-pseudo-obstruction. Accessed 7/17/2015.
  3. Angkathunyakul N, Treepongkaruna S, Molagool S & Ruangwattanapaisarn N. Abnormal layering of muscularis propria as a cause of chronic intestinal pseudo-obstruction: A case report and literature review. World J Gastroenterol. June 14, 2015; 21(22):7059-7064. https://www-ncbi-nlm-nih-gov.ezproxy.nihlibrary.nih.gov/pmc/articles/PMC4462749/. Accessed 7/17/2015.