ACTUALIZACIÓN MÉDICO-CONTINUADA EN GENÉTICA APLICADA ► Digestive system - Genetics Home Reference [NUEVO CAPÍTULO MÉDICO 2016]

Digestive system - Genetics Home Reference

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.

• 3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy, and Leigh-like syndrome see MEGDEL syndrome
• 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome see MEGDEL syndrome
• 3beta-HSDH deficiency see congenital bile acid synthesis defect type 1
• 3beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency see congenital bile acid synthesis defect type 1
• 3beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency see congenital bile acid synthesis defect type 1
• 11q deletion disorder see Jacobsen syndrome
• 11q deletion syndrome see Jacobsen syndrome
• 11q terminal deletion disorder 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
• 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 migraine see cyclic vomiting syndrome
• 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 familial polyposis see familial adenomatous polyposis
• adenomatous polyposis coli 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
• 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
• CAID see chronic atrial and intestinal dysrhythmia
• 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
• CBAS1 see congenital bile acid synthesis defect type 1
• CBAS2 see congenital bile acid synthesis defect type 2
• CdLS see Cornelia de Lange syndrome
• cerebroretinal microangiopathy with calcifications and cysts see Coats plus syndrome
• CF see cystic fibrosis
• CHF see congenital hepatic fibrosis
• cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency see congenital bile acid synthesis defect type 2
• cholestasis with peripheral pulmonary stenosis see Alagille syndrome
• chronic atrial and intestinal dysrhythmia
• chronic idiopathic intestinal pseudo-obstruction see intestinal pseudo-obstruction
• chylomicron retention disease
• CIIP see intestinal pseudo-obstruction
• classic galactosemia see galactosemia
• CMRD see chylomicron retention disease
• Coats plus syndrome
• cohesinopathy affecting heart and gut rhythm see chronic atrial and intestinal dysrhythmia
• Colitis, Granulomatous see Crohn disease
• colitis gravis see ulcerative colitis
• complex carbohydrate intolerance see glucose-galactose malabsorption
• Congenital betalipoprotein deficiency syndrome see abetalipoproteinemia
• congenital bile acid synthesis defect type 1
• congenital bile acid synthesis defect type 2
• congenital defect of folate absorption see hereditary folate malabsorption
• congenital enteropathy see microvillus inclusion disease
• congenital familial protracted diarrhea with enterocyte brush-border abnormalities see microvillus inclusion disease
• Congenital folate malabsorption see hereditary folate malabsorption
• congenital hepatic fibrosis
• congenital intestinal aganglionosis see Hirschsprung disease
• congenital megacolon see Hirschsprung disease
• congenital microvillous atrophy see microvillus inclusion 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
• CRMCC see Coats plus syndrome
• Crohn disease
• CSID see congenital sucrase-isomaltase deficiency
• CVS see cyclic vomiting syndrome
• cyclic vomiting syndrome
• cystic fibrosis
• dairy product intolerance see lactose intolerance
• Davidson disease see microvillus inclusion disease
• de Lange syndrome see Cornelia de Lange syndrome
• deletion 22q11.2 syndrome see 22q11.2 deletion syndrome
• deletion 22q13.3 syndrome see 22q13.3 deletion syndrome
• deletion 22q13 syndrome see 22q13.3 deletion syndrome
• DGSX see Simpson-Golabi-Behmel syndrome
• diarrhea, fatal infantile, with trichorrhexis nodosa see trichohepatoenteric syndrome
• diarrhea, syndromic see trichohepatoenteric syndrome
• DiGeorge syndrome see 22q11.2 deletion syndrome
• dihydrolipoamide dehydrogenase deficiency
• dihydrolipoyl dehydrogenase deficiency see dihydrolipoamide dehydrogenase deficiency
• disaccharide intolerance I see congenital sucrase-isomaltase deficiency
• DJS see Dubin-Johnson syndrome
• DLD deficiency see dihydrolipoamide dehydrogenase deficiency
• Dubin-Johnson syndrome
• dysencephalia splanchnocystica see Meckel syndrome
• dystonia/parkinsonism, hypermanganesemia, polycythemia, and chronic liver disease seehypermanganesemia with dystonia, polycythemia, and cirrhosis
• E-cadherin-associated hereditary gastric cancer see hereditary diffuse gastric cancer
• E3 deficiency see dihydrolipoamide dehydrogenase deficiency
• 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 diffuse gastric cancer see hereditary diffuse gastric cancer
• 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
• familial protracted enteropathy see microvillus inclusion disease
• FAP see familial adenomatous polyposis
• FDGC see hereditary diffuse gastric cancer
• Feingold syndrome
• Fellman syndrome see GRACILE syndrome
• FG syndrome
• fibrocystic disease of pancreas see cystic fibrosis
• FIC1 deficiency see progressive familial intrahepatic cholestasis
• Finnish lactic acidosis with hepatic hemosiderosis see GRACILE syndrome
• Finnish lethal neonatal metabolic syndrome see GRACILE syndrome
• 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
• GALE deficiency see galactosemia
• GALK deficiency see 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
• GRACILE syndrome
• growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death seeGRACILE syndrome
• HDGC see hereditary diffuse gastric cancer
• 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 diffuse gastric cancer
• hereditary folate malabsorption
• hereditary nonpolyposis colorectal cancer see Lynch syndrome
• hereditary nonpolyposis colorectal neoplasms see Lynch syndrome
• hereditary pancreatitis
• hereditary pulmonary emphysema see alpha-1 antitrypsin deficiency
• hereditary unconjugated hyperbilirubinemia see Crigler-Najjar syndrome
• hernia, abdominal see abdominal wall defect
• heterotaxy syndrome
• 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
• HTX see heterotaxy syndrome
• 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 seechylomicron 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
• insulin-dependent diabetes mellitus secretory diarrhea syndrome see immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome
• intestinal polyposis-cutaneous pigmentation syndrome see Peutz-Jeghers syndrome
• intestinal pseudo-obstruction
• intractable diarrhea of infancy see microvillus inclusion disease
• intractable diarrhea with phenotypic anomalies see trichohepatoenteric syndrome
• intrahepatic cholestasis of pregnancy
• IPEX syndrome see immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome
• IPO see intestinal pseudo-obstruction
• isolated CoQ-cytochrome c reductase deficiency see mitochondrial complex III deficiency
• Ivemark syndrome see heterotaxy syndrome
• Jacobsen syndrome
• Jaundice, Chronic Idiopathic see Dubin-Johnson syndrome
• JIP see juvenile polyposis syndrome
• JPS see juvenile polyposis syndrome
• junctional epidermolysis bullosa with pyloric atresia see epidermolysis bullosa with pyloric atresia
• juvenile polyposis syndrome
• Keller syndrome see FG syndrome
• lactic acidosis due to LAD deficiency see dihydrolipoamide dehydrogenase deficiency
• lactic acidosis due to lipoamide dehydrogenase deficiency see dihydrolipoamide dehydrogenase deficiency
• lactose intolerance
• left isomerism see heterotaxy syndrome
• lentiginosis, perioral see Peutz-Jeghers syndrome
• lipid transport defect of intestine see chylomicron retention disease
• lipoamide dehydrogenase deficiency see dihydrolipoamide dehydrogenase deficiency
• low gamma-GT familial intrahepatic cholestasis see benign recurrent intrahepatic cholestasis; progressive familial intrahepatic cholestasis
• Lynch syndrome
• Manitoba oculotrichoanal syndrome
• maple syrup urine disease, type III see dihydrolipoamide dehydrogenase deficiency
• Marles-Greenberg-Persaud syndrome see Manitoba oculotrichoanal syndrome
• Marles syndrome see Manitoba oculotrichoanal syndrome
• MDR3 deficiency see progressive familial intrahepatic cholestasis
• Meckel syndrome
• MEGDEL syndrome
• MEGDHEL syndrome see MEGDEL 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 seeMowat-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
• microvillous atrophy see microvillus inclusion disease
• microvillous inclusion disease see microvillus inclusion disease
• microvillus inclusion disease
• milk sugar intolerance see lactose intolerance
• mitochondrial complex III deficiency
• 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
• MVID see microvillus inclusion disease
• 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
• NNH see MPV17-related hepatocerebral mitochondrial DNA depletion syndrome
• 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
• 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 seehypermanganesemia 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
• phenotypic diarrhea of infancy see trichohepatoenteric syndrome
• PJS see Peutz-Jeghers syndrome
• POLIP see mitochondrial neurogastrointestinal encephalopathy disease
• Polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudo-obstruction seemitochondrial neurogastrointestinal encephalopathy disease
• 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
• right isomerism see heterotaxy syndrome
• Rotor syndrome
• sacral agenesis see caudal regression syndrome
• sacral defect with anterior meningocele see caudal regression syndrome
• sclerosing cholangitis see primary sclerosing cholangitis
• SD/THE see trichohepatoenteric syndrome
• SDYS see Simpson-Golabi-Behmel syndrome
• Sedlackova syndrome see 22q11.2 deletion syndrome
• SERAC1 defect see MEGDEL 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
• situs ambiguus see heterotaxy syndrome
• sucrase-isomaltase deficiency see congenital sucrase-isomaltase deficiency
• syndromic diarrhea see trichohepatoenteric syndrome
• THE syndrome see trichohepatoenteric syndrome
• THES see trichohepatoenteric syndrome
• Thymidine phosphorylase deficiency see mitochondrial neurogastrointestinal encephalopathy disease
• tricho-hepato-enteric syndrome see trichohepatoenteric syndrome
• trichohepatoenteric syndrome
• triple A syndrome
• typus degenerativus amstelodamensis see Cornelia de Lange syndrome
• ubiquinone-cytochrome c oxidoreductase deficiency see mitochondrial complex III deficiency
• UC see ulcerative colitis
• UDP-galactose-4-epimerase deficiency disease 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
• visceral heterotaxy see heterotaxy syndrome
• Watson-Miller syndrome see Alagille syndrome
• WD see Wilson disease
• Wilson disease