ZMIZ1-associated neurodevelopmental disorder and Hirschsprung disease

Hirschsprung disease, associated syndromes and genetics: a review.

Hirschsprung disease (HSCR, aganglionic megacolon) represents the main genetic cause of functional intestinal obstruction with an incidence of 1/5000 live births. This developmental disorder is a neurocristopathy and is characterised by the absence of the enteric ganglia along a variable length of the intestine. In the last decades, the development of surgical approaches has importantly decreas...

Review article Hirschsprung disease, associated syndromes, and genetics: a review

Hirschsprung disease (HSCR, aganglionic megacolon) is the main genetic cause of functional intestinal obstruction with an incidence of 1/5000 live births. This developmental disorder is a neurocristopathy and is characterised by the absence of the enteric ganglia along a variable length of the intestine. In the last decades, the development of surgical approaches has dramatically decreased mort...

Hirschsprung Associated Enterocolitis

Hirschsprung-associated enterocolitis is an infrequent inborn abnormality of the enteric nervous system. Characteristics are the absence of ganglia in both submucosal and myenteric plexuses of the hindgut with a variable proximal extension. This review acknowledge all patients and families regarding the possibility of HAEC occurrence either preand postoperatively and to make them prepare deal w...

Title Hirschsprung ' s disease

WNT3A gene expression is associated with isolated Hirschsprung disease polymorphism and disease status.

WNT3A has been regarded as an activator of the canonical Wnt signaling pathway. It has been found Wnt signaling pathway is closely related with embrionic development and Hirschsprung disease (HSCR). A common haplotype consisting of minor SNPs alleles located in the WNT3A gene has been described as a risk factor for various genetic disorders. However, whether WNT3A contributes to the onset of HS...