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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"

Intestinal pseudo-obstruction can have different causes. Variants (also called mutations) in several genes can cause this condition. In some individuals with primary intestinal pseudo-obstruction, the condition is caused by genetic changes affecting the FLNA or ACTG2 gene.

The protein produced from the FLNA gene, filamin A, attaches (binds) to proteins called actins and helps them form the branching network of filaments that make up the cytoskeleton, which gives structure to cells and allows them to change shape and move. FLNA gene variants that cause intestinal pseudo-obstruction are thought to reduce levels of the filamin A protein or impair its function. Research suggests that decreased filamin A function may affect the shape of cells in the smooth muscles of the gastrointestinal tract during development before birth, causing abnormalities in the layering of these muscles. Smooth muscles line the internal organs; they contract and relax without being consciously controlled. In the gastrointestinal tract, abnormal layering of these muscles interferes with the ability to produce the coordinated waves of contractions (peristalsis) that move food along during digestion.

A loss (deletion) or copy (duplication) of genetic material can affect all or part of the FLNA gene, and may also include adjacent genes on the X chromosome. Changes in adjacent genes may account for some of the other signs and symptoms that can occur with intestinal pseudo-obstruction.

The ACTG2 gene provides instructions for making a member of the actin family called gamma (γ)-2 actin. The γ-2 actin protein is found in smooth muscle cells of the intestinal and urinary tracts. It is necessary for contraction of the smooth muscles in the intestines and bladder. These contractions move food through the intestines as part of the digestive process and empty urine from the bladder. ACTG2 gene variants hinder the formation of actin filaments in the cytoskeleton and reduce the ability of smooth muscles in the intestines and bladder to contract, leading to the signs and symptoms of intestinal pseudo-obstruction.

Variants in other genes involved in smooth muscle contraction can also cause intestinal pseudo-obstruction. Studies suggest additional gene variants that have not been identified can also result in this condition.

Secondary intestinal pseudo-obstruction occurs as a complication of other disorders that damage muscles or nerves in the intestinal tract, such as Parkinson's disease, type 2 diabetes, various types of muscular dystrophy, or Kawasaki disease. Additionally, intestinal pseudo-obstruction can occur with certain inherited syndromes such as megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) or mitochondrial neurogastrointestinal encephalopathy disease (MNGIE disease).

Environmental factors, such as infections, surgery, or certain drugs can also cause secondary intestinal pseudo-obstruction. In some affected individuals, the cause of intestinal pseudo-obstruction is unknown.

MedlinePlus Genetics: Causes

","key":"forms","title":"What causes Intestinal pseudo-obstruction?"},{"bodyHtml":"

Intestinal pseudo-obstruction leads to a buildup of partially digested food in the intestines. This buildup can cause abdominal swelling (distention) and pain, nausea, vomiting, and constipation or diarrhea. Affected individuals experience loss of appetite and impaired ability to absorb nutrients, which may lead to malnutrition. These symptoms resemble those of an intestinal blockage (obstruction), but in intestinal pseudo-obstruction no blockage is found.

Depending on the cause of intestinal pseudo-obstruction, affected individuals can have additional signs and symptoms. Some people with intestinal pseudo-obstruction have bladder dysfunction such as an inability to pass urine. Other, additional features may include decreased muscle tone (hypotonia) or stiffness (spasticity) of the torso and limbs, weakness in the muscles that control eye movement (ophthalmoplegia), intellectual disability, seizures, unusual facial features, or recurrent infections.

When intestinal pseudo-obstruction occurs without additional features, it is called primary or idiopathic intestinal pseudo-obstruction. When the disorder occurs along with other signs and symptoms or as a complication of another health condition, it is called secondary intestinal pseudo-obstruction. The condition can occur once in a while (acute) or steadily (chronic).

Source: MedlinePlus Genetics

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