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Megacystis microcolon intestinal hypoperistalsis syndrome MeSH Supplementary Concept Data 2024


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
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 Preferred
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