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.

• AAA see triple A syndrome
• AAT see alpha-1 antitrypsin deficiency
• ABCB4-related intrahepatic cholestasis see progressive familial intrahepatic cholestasis
• ABCB11-related intrahepatic cholestasis see benign recurrent intrahepatic cholestasis; progressive familial intrahepatic cholestasis
• abdominal wall defect
• abetalipoproteinemia
• acanthocytosis see abetalipoproteinemia
• Achalasia-addisonian syndrome see triple A syndrome
• Achalasia-Addisonianism-Alacrima syndrome see triple A syndrome
• Achalasia-alacrima syndrome see triple A syndrome
• Adenomatous Polyposis Coli see familial adenomatous polyposis
• Adenomatous Polyposis of the Colon see familial adenomatous polyposis
• aganglionic megacolon see Hirschsprung disease
• Alacrima-achalasia-adrenal insufficiency neurologic disorder see triple A syndrome
• alactasia see lactose intolerance
• Alagille syndrome
• Allgrove syndrome see triple A 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
• ATP8B1-related intrahepatic cholestasis see benign recurrent intrahepatic cholestasis; progressive familial intrahepatic cholestasis
• autosomal dominant hereditary pancreatitis see hereditary pancreatitis
• Autosomal dominant Opitz G/BBB syndrome see 22q11.2 deletion syndrome
• Bassen-Kornzweig Syndrome see abetalipoproteinemia
• BDLS see Cornelia de Lange syndrome
• benign recurrent intrahepatic cholestasis
• Betalipoprotein Deficiency Disease see abetalipoproteinemia
• BMPR1A-related juvenile polyposis see juvenile polyposis syndrome
• Brachmann-De Lange Syndrome see Cornelia de Lange syndrome
• BRIC see benign recurrent intrahepatic cholestasis
• BSEP deficiency see progressive familial intrahepatic cholestasis
• Byler disease see progressive familial intrahepatic cholestasis
• Byler syndrome see progressive familial intrahepatic cholestasis
• cancer family syndrome see Lynch syndrome
• carbohydrate intolerance see glucose-galactose malabsorption
• cardiovertebral syndrome see Alagille syndrome
• Carmi syndrome see epidermolysis bullosa with pyloric atresia
• CATCH22 see 22q11.2 deletion syndrome
• caudal regression syndrome
• Cayler cardiofacial syndrome see 22q11.2 deletion syndrome
• CDLS see Cornelia de Lange syndrome
• CF see cystic fibrosis
• CHF see congenital hepatic fibrosis
• cholestasis with peripheral pulmonary stenosis see Alagille syndrome
• chronic idiopathic intestinal pseudo-obstruction see intestinal pseudo-obstruction
• chylomicron retention disease
• CIIP see intestinal pseudo-obstruction
• Classic Galactosemia see galactosemia
• Classical Niemann-Pick Disease see Niemann-Pick disease
• CMRD see chylomicron retention disease
• Colitis, Granulomatous see Crohn disease
• colitis gravis see ulcerative colitis
• 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 hepatic fibrosis
• congenital intestinal aganglionosis see Hirschsprung disease
• congenital megacolon see Hirschsprung disease
• congenital short bowel syndrome see intestinal pseudo-obstruction
• congenital sucrase-isomaltase deficiency
• Conotruncal anomaly face syndrome (CTAF) see 22q11.2 deletion syndrome
• constitutional liver dysfunction see Gilbert syndrome
• Copper storage disease see Wilson disease
• Cornelia de Lange syndrome
• Crigler-Najjar 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
• dairy product intolerance see lactose intolerance
• De Lange Syndrome see Cornelia de Lange syndrome
• 11q deletion disorder see Jacobsen syndrome
• 11q- deletion syndrome see Jacobsen syndrome
• 11q23 deletion disorder see Jacobsen syndrome
• 22q11.2 deletion syndrome
• 22q13.3 deletion syndrome
• 22q13 deletion syndrome see 22q13.3 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
• dysencephalia splanchnocystica see Meckel syndrome
• dystonia/parkinsonism, hypermanganesemia, polycythemia, and chronic liver disease see hypermanganesemia with dystonia, polycythemia, and cirrhosis
• EA/TEF see esophageal atresia/tracheoesophageal fistula
• EB-PA see epidermolysis bullosa with pyloric atresia
• EDS see Ehlers-Danlos syndrome
• Ehlers-Danlos syndrome
• enteric neuropathy see intestinal pseudo-obstruction
• Enteritis, Granulomatous see Crohn disease
• Enteritis, Regional see Crohn disease
• epidermolysis bullosa with pyloric atresia
• Epimerase deficiency galactosemia see galactosemia
• esophageal atresia/tracheoesophageal fistula
• familial adenomatous polyposis
• familial nonhemolytic jaundice see Gilbert syndrome
• familial nonhemolytic unconjugated hyperbilirubinemia see Crigler-Najjar syndrome
• familial nonpolyposis colon cancer see Lynch syndrome
• familial pancreatitis see hereditary pancreatitis
• FAP see familial adenomatous polyposis
• Feingold syndrome
• FG syndrome
• fibrocystic disease of pancreas see cystic fibrosis
• FIC1 deficiency see progressive familial intrahepatic cholestasis
• 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
• gastrointestinal stromal tumor
• genetic emphysema see alpha-1 antitrypsin deficiency
• GGM see glucose-galactose malabsorption
• Gilbert syndrome
• GIST see gastrointestinal stromal tumor
• glucose-galactose malabsorption
• Hematoporphyria see porphyria
• hepatic cirrhosis, dystonia, polycythaemia, and hypermanganesaemia see hypermanganesemia with dystonia, polycythemia, and cirrhosis
• hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia see hypermanganesemia with dystonia, polycythemia, and cirrhosis
• 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 pancreatitis
• Hereditary Polyposis Coli see familial adenomatous polyposis
• hereditary pulmonary emphysema see alpha-1 antitrypsin deficiency
• hereditary unconjugated hyperbilirubinemia see Crigler-Najjar syndrome
• hernia, abdominal see abdominal wall defect
• Hirschsprung disease
• Hirschsprung Disease-Mental Retardation Syndrome see Mowat-Wilson syndrome
• HMDPC see hypermanganesemia with dystonia, polycythemia, and cirrhosis
• HNPCC see Lynch syndrome
• HP see hereditary pancreatitis
• HSCR see Hirschsprung disease
• hyperbilirubinemia 1 see Gilbert syndrome
• hyperbilirubinemia II see Dubin-Johnson syndrome
• hyperbilirubinemia, Rotor type see Rotor syndrome
• hypermanganesemia with dystonia, polycythemia, and cirrhosis
• hypobetalipoproteinemia with accumulation of apolipoprotein B-like protein in intestinal cells see chylomicron retention disease
• hypolactasia see lactose intolerance
• idiopathic proctocolitis see ulcerative colitis
• Ileitis see Crohn disease
• Ileocolitis see Crohn disease
• immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome
• infantile systemic hyalinosis
• inflammatory bowel disease, ulcerative colitis type see ulcerative colitis
• inherited emphysema see alpha-1 antitrypsin deficiency
• inherited systemic hyalinosis see infantile systemic hyalinosis
• intestinal polyposis-cutaneous pigmentation syndrome see Peutz-Jeghers syndrome
• intestinal pseudo-obstruction
• intrahepatic cholestasis of pregnancy
• IPEX syndrome see immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome
• IPO see intestinal pseudo-obstruction
• Jacobsen syndrome
• Jaundice, Chronic Idiopathic see Dubin-Johnson syndrome
• junctional epidermolysis bullosa with pyloric atresia see epidermolysis bullosa with pyloric atresia
• juvenile polyposis syndrome
• Keller syndrome see FG syndrome
• lactose intolerance
• lentiginosis, perioral see Peutz-Jeghers syndrome
• lipid transport defect of intestine see chylomicron retention disease
• lipoid histiocytosis (classical phosphatide) see Niemann-Pick disease
• low gamma-GT familial intrahepatic cholestasis see benign recurrent intrahepatic cholestasis; progressive familial intrahepatic cholestasis
• Lynch syndrome
• Manitoba oculotrichoanal syndrome
• Marles-Greenberg-Persaud syndrome see Manitoba oculotrichoanal syndrome
• Marles syndrome see Manitoba oculotrichoanal syndrome
• MDR3 deficiency see progressive familial intrahepatic cholestasis
• Meckel 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
• Meulengracht syndrome see Gilbert syndrome
• Microcephaly, Mental Retardation, and Distinct Facial Features, with or without Hirschsprung disease see Mowat-Wilson syndrome
• microcephaly-mesobrachyphalangy-tracheoesophageal fistula (MMT) syndrome see Feingold syndrome
• microcephaly-oculo-digito-esophageal-duodenal (MODED) syndrome see Feingold syndrome
• Microsomal Triglyceride Transfer Protein Deficiency Disease see abetalipoproteinemia
• milk sugar intolerance see lactose intolerance
• mitochondrial DNA depletion syndrome 6 see MPV17-related hepatocerebral mitochondrial DNA depletion syndrome
• mitochondrial neurogastrointestinal encephalopathy disease
• MKS see Meckel syndrome
• MNGIE disease see mitochondrial neurogastrointestinal encephalopathy disease
• MNGIE syndrome see mitochondrial neurogastrointestinal encephalopathy disease
• monosaccharide malabsorption see glucose-galactose malabsorption
• monosomy 22q13 see 22q13.3 deletion syndrome
• MOTA see Manitoba oculotrichoanal syndrome
• Mowat-Wilson syndrome
• MPV17-associated hepatocerebral MDS see MPV17-related hepatocerebral mitochondrial DNA depletion syndrome
• MPV17-related hepatocerebral mitochondrial DNA depletion syndrome
• MTDPS6 see MPV17-related hepatocerebral mitochondrial DNA depletion 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
• Navajo familial neurogenic arthropathy see MPV17-related hepatocerebral mitochondrial DNA depletion syndrome
• Navajo neurohepatopathy see MPV17-related hepatocerebral mitochondrial DNA depletion syndrome
• Navajo neuropathy see MPV17-related hepatocerebral mitochondrial DNA depletion syndrome
• Neuronal Cholesterol Lipidosis see Niemann-Pick disease
• Niemann-Pick disease
• NNH see MPV17-related hepatocerebral mitochondrial DNA depletion syndrome
• NPD see Niemann-Pick disease
• obstetric cholestasis see intrahepatic cholestasis of pregnancy
• oculo-digito-esophagoduodental (ODED) syndrome see Feingold syndrome
• 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
• PA-JEB see epidermolysis bullosa with pyloric atresia
• paralytic ileus see intestinal pseudo-obstruction
• parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease see hypermanganesemia with dystonia, polycythemia, and cirrhosis
• paucity of interlobular bile ducts see Alagille syndrome
• Periodic vomiting see cyclic vomiting syndrome
• periorificial lentiginosis syndrome see Peutz-Jeghers syndrome
• Peutz-Jeghers syndrome
• Phelan-McDermid syndrome see 22q13.3 deletion 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
• pregnancy-related cholestasis see intrahepatic cholestasis of pregnancy
• primary sclerosing cholangitis
• progressive familial intrahepatic cholestasis
• PSC see primary sclerosing cholangitis
• pseudointestinal obstruction syndrome see intestinal pseudo-obstruction
• pseudoobstructive syndrome see intestinal pseudo-obstruction
• recurrent familial intrahepatic cholestasis see benign recurrent intrahepatic cholestasis
• recurrent intrahepatic cholestasis of pregnancy see intrahepatic cholestasis of pregnancy
• Rotor syndrome
• sacral agenesis see caudal regression syndrome
• sacral defect with anterior meningocele see caudal regression syndrome
• sclerosing cholangitis see primary sclerosing cholangitis
• 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
• 11q terminal deletion disorder see Jacobsen syndrome
• Thymidine phosphorylase deficiency see mitochondrial neurogastrointestinal encephalopathy disease
• triple A syndrome
• UC see ulcerative colitis
• UDP-Galactose-4-Epimerase Deficiency Disease see galactosemia
• UDPglucose 4-Epimerase Deficiency Disease see galactosemia
• UDPglucose Hexose-1-Phosphate Uridylyltransferase Deficiency see galactosemia
• ulcerative colitis
• unconjugated benign bilirubinemia see Gilbert syndrome
• UTP Hexose-1-Phosphate Uridylyltransferase Deficiency see galactosemia
• VACTERL association
• VATER association see VACTERL association
• 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