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GENATLAS PHENOTYPE

last update : 24-08-2017

Symbol	MMIH3
Location	3q21.1
Name	megacystis-microcolon-intestinal hypoperistalsis syndrome 3
Corresponding gene	MYLK
Main clinical features	rare congenital disease of the visceral organs, mainly characterized by bladder distension and the presence of a microcolon myopathic pseudoobstruction, characterized by impaired function of enteric smooth muscle cells resulting in abnormal intestinal mobility, severe abdominal pain, malnutrition, and even death
Genetic determination	autosomal recessive
Function/system disorder	digestive tract/gastrointestinal
	kidney and urinary tract
Type	disease

Remark(s)

. identified variant is indeed a splice variant likely leading to the skipping of exon 23 (PMID: 28602422))