Digestive system

Digestion is the process of breaking down food and using nutrients for energy and maintenance of the body. Some digestive diseases are thought to be hereditary.

• AAT see alpha-1 antitrypsin deficiency
• abetalipoproteinemia
• acanthocytosis see abetalipoproteinemia
• Adenomatous Polyposis Coli see familial adenomatous polyposis
• Adenomatous Polyposis of the Colon see familial adenomatous polyposis
• Alagille syndrome
• ALMS see Alström syndrome
• alpha-1 antitrypsin deficiency
• Alström syndrome
• Anderson disease see chylomicron retention disease
• Anderson syndrome see chylomicron retention disease
• Apolipoprotein B deficiency see abetalipoproteinemia
• arteriohepatic dysplasia (AHD) see Alagille syndrome
• Autosomal dominant Opitz G/BBB syndrome see 22q11.2 deletion syndrome
• Bassen-Kornzweig Syndrome see abetalipoproteinemia
• BDLS see Cornelia de Lange syndrome
• Betalipoprotein Deficiency Disease see abetalipoproteinemia
• BMPR1A-related juvenile polyposis see juvenile polyposis syndrome
• Brachmann-De Lange Syndrome see Cornelia de Lange syndrome
• Cancer Family Syndrome see Lynch syndrome
• carbohydrate intolerance see glucose-galactose malabsorption
• cardiovertebral syndrome see Alagille syndrome
• CATCH22 see 22q11.2 deletion syndrome
• Cayler cardiofacial syndrome see 22q11.2 deletion syndrome
• CDLS see Cornelia de Lange syndrome
• CF see cystic fibrosis
• cholestasis with peripheral pulmonary stenosis see Alagille syndrome
• chylomicron retention disease
• Classic Galactosemia see galactosemia
• Classical Niemann-Pick Disease see Niemann-Pick disease
• CMRD see chylomicron retention disease
• COCA 1 see Lynch syndrome
• Colitis, Granulomatous see Crohn disease
• Colon cancer, familial see familial adenomatous polyposis
• complex carbohydrate intolerance see glucose-galactose malabsorption
• Congenital betalipoprotein deficiency syndrome see abetalipoproteinemia
• Congenital folate malabsorption see hereditary folate malabsorption
• congenital sucrase-isomaltase deficiency
• Conotruncal anomaly face syndrome (CTAF) see 22q11.2 deletion syndrome
• Copper storage disease see Wilson disease
• Cornelia de Lange syndrome
• Crohn disease
• CSID see congenital sucrase-isomaltase deficiency
• CVS see cyclic vomiting syndrome
• cyclic vomiting syndrome
• cystic fibrosis
• DAF syndrome see Niemann-Pick disease
• De Lange Syndrome see Cornelia de Lange syndrome
• 22q11.2 deletion syndrome
• DGSX see Simpson-Golabi-Behmel syndrome
• DiGeorge Syndrome see 22q11.2 deletion syndrome
• disaccharide intolerance I see congenital sucrase-isomaltase deficiency
• DJS see Dubin-Johnson syndrome
• Dubin-Johnson syndrome
• EDS see Ehlers-Danlos syndrome
• Ehlers-Danlos syndrome
• Enteritis, Granulomatous see Crohn disease
• Enteritis, Regional see Crohn disease
• Epimerase deficiency galactosemia see galactosemia
• familial adenomatous polyposis
• Familial hypobetalipoproteinemia see abetalipoproteinemia
• Familial nonpolyposis colon cancer see Lynch syndrome
• FAP see familial adenomatous polyposis
• FG syndrome
• Fibrocystic Disease of Pancreas see cystic fibrosis
• Folic acid transport defect see hereditary folate malabsorption
• Galactokinase Deficiency Disease see galactosemia
• Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease see galactosemia
• Galactose epimerase deficiency see galactosemia
• galactosemia
• GALT Deficiency see galactosemia
• genetic emphysema see alpha-1 antitrypsin deficiency
• GGM see glucose-galactose malabsorption
• glucose-galactose malabsorption
• Hematoporphyria see porphyria
• hepatic ductular hypoplasia see Alagille syndrome
• hepatofacioneurocardiovertebral syndrome see Alagille syndrome
• Hepatolenticular degeneration syndrome see Wilson disease
• hereditary folate malabsorption
• Hereditary nonpolyposis colorectal cancer see Lynch syndrome
• Hereditary Nonpolyposis Colorectal Neoplasms see Lynch syndrome
• Hereditary Polyposis Coli see familial adenomatous polyposis
• hereditary pulmonary emphysema see alpha-1 antitrypsin deficiency
• Hirschsprung Disease-Mental Retardation Syndrome see Mowat-Wilson syndrome
• HNPCC see Lynch syndrome
• hyperbilirubinemia II see Dubin-Johnson syndrome
• hypobetalipoproteinemia with accumulation of apolipoprotein B-like protein in intestinal cells see chylomicron retention disease
• Ileitis see Crohn disease
• Ileocolitis see Crohn disease
• immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome
• infantile systemic hyalinosis
• inherited emphysema see alpha-1 antitrypsin deficiency
• inherited systemic hyalinosis see infantile systemic hyalinosis
• Intestinal polyposis-cutaneous pigmentation syndrome see Peutz-Jeghers syndrome
• IPEX syndrome see immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome
• Jaundice, Chronic Idiopathic see Dubin-Johnson syndrome
• juvenile polyposis syndrome
• Keller syndrome see FG syndrome
• Lentiginosis, Perioral see Peutz-Jeghers syndrome
• lipid transport defect of intestine see chylomicron retention disease
• lipoid histiocytosis (classical phosphatide) see Niemann-Pick disease
• Lynch syndrome
• Mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of the corpus callosum see FG syndrome
• mental retardation-overgrowth syndrome see Simpson-Golabi-Behmel syndrome
• MEPOP see mitochondrial neurogastrointestinal encephalopathy disease
• Microcephaly, Mental Retardation, and Distinct Facial Features, with or without Hirschsprung disease see Mowat-Wilson syndrome
• Microsomal Triglyceride Transfer Protein Deficiency Disease see abetalipoproteinemia
• mitochondrial neurogastrointestinal encephalopathy disease
• MNGIE disease see mitochondrial neurogastrointestinal encephalopathy disease
• MNGIE syndrome see mitochondrial neurogastrointestinal encephalopathy disease
• monosaccharide malabsorption see glucose-galactose malabsorption
• Mowat-Wilson syndrome
• Mucoviscidosis see cystic fibrosis
• MWS see Mowat-Wilson syndrome
• MYH-associated polyposis see familial adenomatous polyposis
• Myoneurogastrointestinal encephalopathy syndrome see mitochondrial neurogastrointestinal encephalopathy disease
• Neuronal Cholesterol Lipidosis see Niemann-Pick disease
• Niemann-Pick disease
• NPD see Niemann-Pick disease
• Oculogastrointestinal muscular dystrophy see mitochondrial neurogastrointestinal encephalopathy disease
• OGIMD see mitochondrial neurogastrointestinal encephalopathy disease
• OKS see FG syndrome
• Ophthalmoplegia, Supraoptic Vertical see Niemann-Pick disease
• Opitz-Kaveggia syndrome see FG syndrome
• paucity of interlobular bile ducts see Alagille syndrome
• Periodic vomiting see cyclic vomiting syndrome
• Periorificial lentiginosis syndrome see Peutz-Jeghers syndrome
• Peutz-Jeghers syndrome
• PJS see Peutz-Jeghers syndrome
• POLIP see mitochondrial neurogastrointestinal encephalopathy disease
• Polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudo-obstruction see mitochondrial neurogastrointestinal encephalopathy disease
• Polyposis coli see familial adenomatous polyposis
• Polyposis, hamartomatous intestinal see Peutz-Jeghers syndrome
• Polyposis, Intestinal, II see Peutz-Jeghers syndrome
• Polyps-and-spots syndrome see Peutz-Jeghers syndrome
• porphyria
• porphyrin disorder see porphyria
• SDYS see Simpson-Golabi-Behmel syndrome
• Sedlackova syndrome see 22q11.2 deletion syndrome
• SGBS see Simpson-Golabi-Behmel syndrome
• Shprintzen syndrome see 22q11.2 deletion syndrome
• SI deficiency see congenital sucrase-isomaltase deficiency
• Simpson dysplasia syndrome see Simpson-Golabi-Behmel syndrome
• Simpson-Golabi-Behmel syndrome
• Simpson syndrome see Simpson-Golabi-Behmel syndrome
• SMAD4-related juvenile polyposis see juvenile polyposis syndrome
• Sphingomyelin/cholesterol lipidosis see Niemann-Pick disease
• Sphingomyelin lipidosis see Niemann-Pick disease
• Sphingomyelinase deficiency see Niemann-Pick disease
• Thymidine phosphorylase deficiency see mitochondrial neurogastrointestinal encephalopathy disease
• UDP-Galactose-4-Epimerase Deficiency Disease see galactosemia
• UDPglucose 4-Epimerase Deficiency Disease see galactosemia
• UDPglucose Hexose-1-Phosphate Uridylyltransferase Deficiency see galactosemia
• UTP Hexose-1-Phosphate Uridylyltransferase Deficiency see galactosemia
• VCFS see 22q11.2 deletion syndrome
• Velo-cardio-facial syndrome see 22q11.2 deletion syndrome
• Velocardiofacial syndrome see 22q11.2 deletion syndrome
• Watson-Miller syndrome see Alagille syndrome
• WD see Wilson disease
• Wilson disease