Megacystis microcolon intestinal hypoperistalsis syndrome

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

Also Known As:

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

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Multiple Abnormalities: 211
    - Megacystis microcolon intestinal hypoperistalsis syndrome: 18
Urogenital System
- Urinary Tract
  - Urinary Bladder
    - Megacystis microcolon intestinal hypoperistalsis syndrome: 18
Digestive System
- Gastrointestinal Tract
  - Intestines
    - Large Intestine
      - Colon
        Megacystis microcolon intestinal hypoperistalsis syndrome: 18
  - Lower Gastrointestinal Tract
    - Large Intestine
      - Colon
        Megacystis microcolon intestinal hypoperistalsis syndrome: 18
Digestive System Diseases: 1042
- Gastrointestinal Diseases: 5874
  - Intestinal Diseases: 1601
    - Intestinal Obstruction: 2658
      - Ileus: 3843
        Intestinal Pseudo-Obstruction: 1066
        Megacystis microcolon intestinal hypoperistalsis syndrome: 18

Colon

Context: Research Results