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
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