Megacystis microcolon intestinal hypoperistalsis syndrome [Supplementary Concept]

An rare inherited (autosomal dominant) intestinal pseudo-obstruction characterized by impaired function of enteric SMOOTH MUSCLE MYOCYTES resulting in abnormal intestinal mobility, severe ABDOMINAL PAIN, MALNUTRITION, and potentially death. The most severe cases exhibit prenatal BLADDER enlargement, intestinal malrotation, and neonatal functional gastrointestinal obstruction. Mutations in the ACTG2 gene have been identifed. OMIM: 155310

Date introduced: August 25, 2010

MeSH Unique ID: C536138

Heading Mapped to:

• Abnormalities, Multiple
• Urinary Bladder/abnormalities
• Colon/abnormalities
• Intestinal Pseudo-Obstruction

Entry Terms:

• Berdon syndrome
• MMIH syndrome
• Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
• MMIHS Megacystis microcolon intestinal hypoperistalsis syndrome