The Rare Disease Database

The most comprehensive source of rare disease information.

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Top 10 rare gastroenterology diseases

Measured by: prevalence

DiseaseEst US PrevalenceInheritanceAge of onset
Alpha-1 antitrypsin deficiency60,000-100,000
Eosinophilic gastroenteritis32,000-182,500
Primary biliary cholangitis (PBC)30,000-132,500
Cystic fibrosis30,000-35,000
Achalasia26,400-33,000
Hirschsprung disease18,540-36,200


Gardner syndrome18,000-30,300
Primary sclerotic cholangitis (PSC)15,800-53,400
Wilson's disease6,000-10,000
Hereditary angioedema3,000-6,000