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Visceral neuropathy, familial, 3, autosomal dominant(VSCN3)

MedGen UID:
351272
Concept ID:
C1864996
Disease or Syndrome
Synonyms: ENTERIC NEUROPATHY, FAMILIAL; PSEUDOOBSTRUCTION, CHRONIC INTESTINAL, NEUROPATHIC; Visceral neuropathy, familial, autosomal dominant
 
Monarch Initiative: MONDO:0012317
OMIM®: 609629

Definition

Familial visceral neuropathy-3 (VSCN3) is an autosomal dominant disorder in which affected individuals experience gastrointestinal symptoms, including esophageal dysmotility and chronic intestinal pseudoobstruction, due to abnormalities of the intestinal myenteric plexus. Nonintestinal abnormalities, including pupillary abnormalities and peripheral neuropathy, may also be present (summary by Roper et al., 2005). For a discussion of genetic heterogeneity of familial visceral neuropathy, see VSCN1 (243180). [from OMIM]

Additional description

From MedlinePlus Genetics
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 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 by itself, it is called primary or idiopathic intestinal pseudo-obstruction. The disorder can also develop as a complication of another health problem; in these cases, it is called secondary intestinal pseudo-obstruction. The condition can be episodic (acute) or persistent (chronic).

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.

Intestinal pseudo-obstruction is a condition characterized by impairment of the muscle contractions that move food through the digestive tract. It can occur at any time of life, and its symptoms range from mild to severe. The condition may arise from abnormalities of the gastrointestinal muscles themselves (myogenic) or from problems with the nerves that control the muscle contractions (neurogenic).  https://medlineplus.gov/genetics/condition/intestinal-pseudo-obstruction

Recent clinical studies

Etiology

Roper EC, Gibson A, McAlindon ME, Williams LH, Cook JA, Kandler RH, Quarrell OW
Am J Med Genet A 2005 Sep 1;137A(3):249-54. doi: 10.1002/ajmg.a.30880. PMID: 16088914

Diagnosis

Sato H, Abe H, Nagashima A, Yokoyama J, Terai S
J Gastroenterol Hepatol 2018 Mar;33(3):559. doi: 10.1111/jgh.13980. PMID: 29469232

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