Megacystis Microcolon Intestinal Hypoperistalsis Syndrome
Last Posted: Mar 05, 2023
- Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy.
Assia Batzir Nurit, et al. Human mutation 2019 0 (3) 641-654
- Pediatric Intestinal Pseudo-obstruction in the Era of Genetic Sequencing.
Gamboa Heidi E et al. Current gastroenterology reports 2019 Dec 21(12) 70
- Mutation in Actin ?-2 Responsible for Megacystis Microcolon Intestinal Hypoperistalsis Syndrome in 4 Chinese Patients.
Lu Wei, et al. Journal of pediatric gastroenterology and nutrition 2016 3
- Megacystis microcolon intestinal hypoperistalsis syndrome
From NCATS Genetic and Rare Diseases Information Center
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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