Anorectal motility in patients with achalasia of the esophagus: recognition of an esophago-rectal syndrome

Shafik, Ahmed

doi:10.1186/1471-230x-3-28

Cited by 2 publications

(1 citation statement)

References 17 publications

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“…These include HSCR (MIM 142623) (including one report of two affected male siblings) (Kelly et al 1997;Kohler et al 2005), duplication of the pylorus (Gupta and Hollander 1977;Jorge and Diaz 1976), additional achalasia of the pylorus (Kalsbeek and Voortman 1980), hypertrophic pyloric stenosis (MIM 179000) (Castro et al 1997;Cataliotti et al 2002), esophageo-rectal syndrome (Shafik 2003), megacystis-microcolon-intestinal hypoperistalsis syndrome (MIM 249210) (Al Harbi et al 1999), and situs inversus viscerum (MIM 270100) (Spinelli et al 1991). …”

Section: Other Syndromes and Diseasesmentioning

confidence: 99%

Achalasia: will genetic studies provide insights?

et al. 2010

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Despite increasing understanding of the pathophysiology of achalasia, the etiology of this esophageal motility disorder remains largely unknown. However, the occurrence of familial achalasia and its association with well-defined genetic syndromes suggest the involvement of genetic factors. Mutant mouse models display gastrointestinal disturbances that are similar to those observed in achalasia patients. The candidate gene approach has revealed some promising results; however, it has not established conclusive links to specific genes so far. The aim of this review was to summarize current knowledge of the genetics of achalasia. We also discuss the extent to which our understanding of achalasia is likely to be enhanced through future molecular genetic research.

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