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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
Networked: 18 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Related Diseases

1. Intestinal Pseudo-Obstruction (Intestinal Pseudoobstruction)
2. Malnutrition (Nutritional Deficiencies)
3. Sepsis (Septicemia)
4. Short Bowel Syndrome
5. Liver Diseases (Liver Disease)

Experts

1. Dreux, Sophie: 2 articles (05/2018 - 03/2005)
2. Muller, Françoise: 2 articles (05/2018 - 03/2005)
3. Alberti, Daniele: 1 article (01/2021)
4. Bordo, Domenico: 1 article (01/2021)
5. Ceccherini, Isabella: 1 article (01/2021)
6. Di Duca, Marco: 1 article (01/2021)
7. Diamanti, Antonella: 1 article (01/2021)
8. Gandullia, Paolo: 1 article (01/2021)
9. Lerone, Margherita: 1 article (01/2021)
10. Lezo, Antonella: 1 article (01/2021)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Megacystis microcolon intestinal hypoperistalsis syndrome:
1. Biomarkers (Surrogate Marker)IBA
2. Proteins (Proteins, Gene)FDA Link
3. Trimethoprim (Proloprim)FDA LinkGeneric
4. Sulfadiazine (Sulphadiazine)FDA Link
5. SeleniumIBA
6. Scopolamine (Hyoscine)FDA Link
7. Nicotinic Receptors (Nicotinic Acetylcholine Receptor)IBA
8. EnzymesIBA
9. Dipyrone (Metamizole)IBA
10. CopperIBA

Therapies and Procedures

1. Transplantation
2. Total Parenteral Nutrition
3. Parenteral Nutrition
4. Microelectrodes
5. Lasers (Laser)