Liste ORPHANET des maladies digestives rares (en anglais)

Intestinal transport defect, congenital

  • Chloride diarrhea, congenital
  • Sodium diarrhea, congenital
  • Glucose-galactose malabsorption
  • Fructose intolerance

Intestinal disease due to vitamin absorption anomaly

  • Gräsbeck-Imerslund disease
  • Folate malabsorption, hereditary
  • Transcobalamin II deficiency

Intestinal disease due to fat malabsorption

  • Abetalipoproteinemia
  • Hypobetalipoproteinemia, familial form
  • Chylomicron retention disease
  • Chylomicron retention -Marinesco-Sjogren syndrome (CMRD-MSS)
  • Malabsorption due to bile acid synthesis defects, idiopathic
  • Acrodermatitis enteropathica, zinc deficiency type

Intestinal disease due to enzymatic defect, congenital

  • Sucrase-isomaltase deficiency, congenital
  • Lactase deficiency, congenital
  • Diarrhea-vomiting due to threalase deficiency
  • Diarrhea, chronic, due to glucoamylase deficiency

Enteropathy involving intestinal mucosa development, congenital

  • Intestinal epithelial dysplasia
  • Microvillous inclusion disease
  • Malabsorptive diarrhea due to paucity of enteroendocrine cells, congenital
  • Enterocyte heparan sulfate deficiency, congenital
  • Exfoliative colitis – deafness

Intestinal lymphangiectasia

  • Secondary intestinal lymphangiectasia
  • Primary intestinal lymphangiectasia
  • Congenital intestinal lymphangiectasia

Enteropathy, severe, immune-mediated

  • Immune dysregulation – polyendocrinopathy – enteropathy, X linked
  • Enteropathy, autoimmune, type 2
  • Enteropathy, autoimmune, type 3
  • Immunoproliferative small intestinal disease
  • Celiac disease
  • Diarrhoea, syndromic

Short bowel syndrome

  • Gastroschisis
  • Atresia of small intestine
  • Congenital short bowel
  • Short bowel syndrome, secondary

Intestinal motility disorder, congenital

  • Familial visceral myopathy
  • Hirschsprung disease
  • Aganglionosis total intestinal
  • Intestinal pseudoobstruction chronic idiopathic
  • Intestinal pseudoobstruction, neuronal
  • Intestinal pseudoobstruction, myopathic
  • Intestinal pseudoobstruction, unclassified
  • Oculogastrointestinal muscular dystrophy

Intestinal polyposis

  • Peutz-Jeghers syndrome
  • Juvenile gastrointestinal polyposis
  • Polypose of the entire gastrointestinal tract, familial form
  • Juvenile polyposis of the stomach
  • Juvenile polyposis coli
  • Juvenile polyposis of infancy
  • Familial adenomatous polyposis
  • Turcot syndrome, with polyposis
  • Gardner syndrome

Intestinal tumour

Multiple endocrine neoplasia type 1 Enteropathy-type T-cell lymphoma Small bowel adenocarcinoma Multiple endocrine neoplasia, type 2 Gastrointestinal stromal tumor Small bowel leiomyosarcoma

Inflammatory bowel disease

  • Crohn disease
  • Ulcerative colitis
  • Colitis, undetermined

Metabolic disease with intestinal involvement

  • Pearson syndrome
  • CDG syndrome (generic term)
  • Mitochondrial DNA depletion syndrome
  • Myoneurogastrointestinal encephalopathy syndrome

Rare paediatric pancreatic disease

  • Pancreatitis, hereditary
  • Cystic fibrosis
  • Shwachman-Diamond syndrome
  • Pancreatoblastoma
  • Pancreatitis, tropical
  • Pancreatitis, autoimmune
  • Annular pancreas
  • Pancreas agenesis
  • Accessory pancreas