MeSH Browser

MeSH Supplementary: Megacystis microcolon intestinal hypoperistalsis syndrome
Unique ID: C536138
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C536138
Entry Term(s): Berdon syndrome; MMIH syndrome; MMIHS Megacystis microcolon intestinal hypoperistalsis syndrome; Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Registry Number: 0
Heading Mapped to: *Abnormalities, Multiple; Urinary Bladder / *abnormalities; Colon / *abnormalities; *Intestinal Pseudo-Obstruction
Frequency: 57
Note: 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 of Entry: 2010/08/25
Revision Date: 2019/06/18

Megacystis microcolon intestinal hypoperistalsis syndrome MeSH Supplementary Concept Data 2024