Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 24-08-2017
Symbol MMIH2
Location 2p13.1
Name megacystis-microcolon-intestinal hypoperistalsis syndrome 2
Corresponding gene ACTG2
Main clinical features
  • myopathic pseudoobstruction, characterized by impaired function of enteric smooth muscle cells resulting in abnormal intestinal mobility, severe abdominal pain, malnutrition, and even death
  • phenotypic spectrum of disease characterized by inter- and intrafamilial variability, in which the most severely affected patients exhibit prenatal bladder enlargement, intestinal malrotation, neonatal functional gastrointestinal obstruction and chronic dependence on total parenteral nutrition
  • Genetic determination autosomal recessive
    Function/system disorder digestive tract/gastrointestinal
    kidney and urinary tract
    Type disease
    Remark(s)