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Condition report · Gastrointestinal

Visceral Myopathy (CIPO, MMIHS)

Inherited disorders of the muscles or nerves that move food through the gut and empty the bladder, causing symptoms of bowel obstruction without a physical blockage. Severity ranges from life-threatening newborn disease to milder dysmotility in adults.

A condition report looks for rare variants known to cause the conditions it covers.

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The 4 conditions we analyse

Familial visceral myopathy

Autosomal dominant

A disorder of smooth muscle in the gut and bladder, most often caused by ACTG2 variants, which frequently arise new in the affected person.

What a diagnosis changes

A genetic diagnosis can spare unnecessary abdominal surgery and guides nutritional and bladder care.

Genes analysed

Also known as

familial hollow visceral myopathy; hereditary hollow visceral myopathy; megaduodenum and/or megacystis; pseudoobstruction idiopathic intestinal

Includes 2 related subtypes ↓
  • visceral myopathy 1
  • visceral myopathy 2
MONDO:0016829Orphanet 2604MedGen 120590

Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS)

A severe newborn condition with a greatly enlarged bladder, a small colon and poor bowel movement, caused by variants in smooth-muscle genes such as ACTG2, MYH11, MYLK, MYL9 and LMOD1.

What a diagnosis changes

Early diagnosis supports planning for nutritional support, bladder drainage and, in some cases, transplant.

Genes analysed

Includes 5 related subtypes ↓
  • megacystis-microcolon-intestinal hypoperistalsis syndrome 1
  • megacystis-microcolon-intestinal hypoperistalsis syndrome 2
  • megacystis-microcolon-intestinal hypoperistalsis syndrome 3
  • megacystis-microcolon-intestinal hypoperistalsis syndrome 4
  • megacystis-microcolon-intestinal hypoperistalsis syndrome 5
MONDO:0025986MedGen 296125

Chronic intestinal pseudo-obstruction (CIPO)

Recurrent episodes of bowel obstruction without a physical blockage, including X-linked forms caused by FLNA and recessive forms caused by ERBB3.

What a diagnosis changes

Recognising the condition avoids repeated surgery for suspected blockage and focuses care on nutrition and symptom control.

Genes analysed

Also known as

Chronic Intestinal Pseudo-Obstruction; CIPO

Includes 5 related subtypes ↓
  • intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked
  • myopathic intestinal pseudoobstruction
  • neuronal intestinal dysplasia, type B
  • visceral neuropathy, familial, 1, autosomal recessive
  • visceral neuropathy, familial, 3, autosomal dominant
MONDO:0017574Orphanet 2978MedGen 536759

Familial visceral neuropathy

Autosomal recessive

Inherited forms of intestinal pseudo-obstruction caused by abnormal development or function of the gut's nerve supply.

What a diagnosis changes

A diagnosis helps explain dysmotility and guides nutritional management.

Genes analysed

Includes 3 related subtypes ↓
  • visceral neuropathy, familial, 1, autosomal recessive
  • visceral neuropathy, familial, 2, autosomal recessive
  • visceral neuropathy, familial, 3, autosomal dominant
MONDO:0023961MedGen 540202

Limitations

  • ACTG2 closely resembles other actin genes (ACTA2, ACTG1, ACTA1), so some variants in this region may be harder to map and call reliably.
  • A single MYH11 variant is associated with familial thoracic aortic aneurysm, which is covered by a separate report; only variants in both copies of MYH11 cause MMIHS.

Other gastrointestinal conditions

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