Mungan syndrome- MedGen UID:
- 369554
- •Concept ID:
- C1969653
- •
- Disease or Syndrome
Mungan syndrome (MGS) is characterized by chronic intestinal pseudoobstruction (CIPO), megaduodenum, long-segment Barrett esophagus, and cardiac abnormalities of variable severity (summary by Bonora et al., 2015).
Multisystemic smooth muscle dysfunction syndrome- MedGen UID:
- 462551
- •Concept ID:
- C3151201
- •
- Disease or Syndrome
Smooth muscle dysfunction syndrome (SMDYS) presents with a recognizable pattern of complications, including congenital mydriasis, patent ductus arteriosus (PDA), pulmonary artery hypertension, aortic and other arterial aneurysms, moyamoya-like cerebrovascular disease, intestinal hypoperistalsis and malrotation, and hypotonic bladder. It is caused by heterozygous mutations of the ACTA2 gene altering the arginine-179 codon (summary by Regalado et al., 2018).
Megacystis-microcolon-intestinal hypoperistalsis syndrome 4- MedGen UID:
- 1783600
- •Concept ID:
- C5543519
- •
- Disease or Syndrome
Megacystis-microcolon-intestinal hypoperistalsis syndrome-4 (MMIHS4) is a severe early-onset disorder characterized by impaired smooth muscle contractility in the bladder and intestines (Kandler et al., 2020).
For a discussion of genetic heterogeneity of MMIHS, see 249210.