List of rare digestive diseases
From WikiMD's Food, Medicine & Wellness Encyclopedia
List of rare Digestive Diseases[edit | edit source]
- 22q11.2 deletion syndrome
- Aagenaes syndrome
- Abetalipoproteinemia
- Accessory pancreas
- Achalasia microcephaly syndrome
- Acrodermatitis enteropathica
- Acute fatty liver of pregnancy
- Adult polyglucosan body disease
- Adult-onset citrullinemia type II
- Agenesis of the dorsal pancreas
- Al-Gazali-Donnai-Mueller syndrome
- ALG13-CDG
- ALG2-CDG (CDG-Ii)
- ALG6-CDG (CDG-Ic)
- ALG8-CDG (CDG-Ih)
- ALG9-CDG (CDG-IL)
- Alpers syndrome
- Alpha-1 antitrypsin deficiency
- Ankyloblepharon filiforme imperforate anus
- Annular pancreas
- Aplasia cutis congenita intestinal lymphangiectasia
- Arterial tortuosity syndrome
- Arthrogryposis renal dysfunction cholestasis syndrome
- Arts syndrome
- Atresia of small intestine
- Autoimmune gastrointestinal dysmotility
- Autoimmune hepatitis
- Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
- Autosomal recessive early-onset inflammatory bowel disease
- Axenfeld-Rieger syndrome
- B4GALT1-CDG (CDG-IId)
- Baller-Gerold syndrome
- Bannayan-Riley-Ruvalcaba syndrome
- Bantu siderosis
- Bardet-Biedl syndrome
- Bardet-Biedl syndrome 1
- Bardet-Biedl syndrome 10
- Bardet-Biedl syndrome 11
- Bardet-Biedl syndrome 12
- Bardet-Biedl syndrome 2
- Bare lymphocyte syndrome 2
- Barrett esophagus - Not a rare disease
- Benign recurrent intrahepatic cholestasis 1
- Benign recurrent intrahepatic cholestasis 2
- Bifid nose with or without anorectal and renal anomalies
- Bile duct cancer
- Biliary atresia
- Boerhaave syndrome
- Budd-Chiari syndrome
- Cantu syndrome
- Caroli disease
- Cat eye syndrome
- Caudal regression sequence
- Cerebrotendinous xanthomatosis
- Childhood hepatocellular carcinoma
- Cholestasis, progressive familial intrahepatic 4
- Cholesteryl ester storage disease
- Chronic granulomatous disease
- Chronic hiccups
- Chylomicron retention disease
- Chylous ascites
- Classical-like Ehlers-Danlos syndrome
- COACH syndrome
- COG4-CDG (CDG-IIj)
- Collagenous colitis - Not a rare disease
- Collagenous gastritis
- Congenital bile acid synthesis defect, type 1
- Congenital bile acid synthesis defect, type 2
- Congenital chloride diarrhea
- Congenital diaphragmatic hernia
- Congenital disorders of glycosylation
- Congenital lactase deficiency
- Congenital sucrase-isomaltase deficiency
- Cornelia de Lange syndrome
- Cowden syndrome
- Crigler Najjar syndrome, type 1
- Crigler-Najjar syndrome type 2
- Crohn's disease - Not a rare disease
- Cronkhite-Canada disease
- Currarino triad
- Cutaneous photosensitivity and colitis, lethal
- Cutis laxa, autosomal dominant
- Cutis laxa, autosomal recessive type 1
- Cystic fibrosis
- Dandy-Walker cyst with Renal-Hepatic-Pancreatic dysplasia
- DDOST-CDG (CDG-Ir)
- Deafness, dystonia, and cerebral hypomyelination
- Desmoplastic small round cell tumor
- Disseminated peritoneal leiomyomatosis
- Donnai-Barrow syndrome
- DPM2-CDG
- Dubin-Johnson syndrome
- Duodenal atresia
- Duodenal ulcer due to antral G-cell hyperfunction
- Emanuel syndrome
- Eosinophilic enteropathy
- Esophageal atresia
- Exstrophy of the bladder
- Familial caudal dysgenesis
- Familial pancreatic cancer
- Familial visceral myopathy with external ophthalmoplegia
- Fanconi Bickel syndrome
- Feingold syndrome
- Fraser syndrome
- Froster-Huch syndrome
- Fryns syndrome
- Galactokinase deficiency
- Galactose epimerase deficiency
- Gardner syndrome
- Gastrocutaneous syndrome
- Gastrointestinal Stromal Tumors
- Gastroschisis
- Geroderma osteodysplastica
- Glucose-galactose malabsorption
- Glycogen storage disease type 1A
- Glycogen storage disease type 1B
- Glycogen storage disease type 3
- Glycogen storage disease type 6
- Goblet cell carcinoid
- Goldberg-Shprintzen megacolon syndrome
- GRACILE syndrome
- Hemochromatosis type 2
- Hemochromatosis type 3
- Hemochromatosis type 4
- Hepatic encephalopathy
- Hepatic veno-occlusive disease
- Hepatic venoocclusive disease with immunodeficiency
- Hepatoblastoma
- Hereditary diffuse gastric cancer
- Hereditary folate malabsorption
- Hereditary fructose intolerance
- Hereditary hemorrhagic telangiectasia
- Hereditary hemorrhagic telangiectasia type 2
- Hereditary hemorrhagic telangiectasia type 3
- Hereditary hemorrhagic telangiectasia type 4
- Hereditary pancreatitis
- Hirschsprung disease type d brachydactyly
- Hirschsprung's disease
- Hyperbilirubinemia transient familial neonatal
- Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis
- Idiopathic achalasia
- Imerslund-Grasbeck syndrome
- Immunodysregulation, polyendocrinopathy and enteropathy X-linked
- Infantile liver failure syndrome 1
- Infantile onset spinocerebellar ataxia
- Intestinal atresia multiple
- Intrahepatic cholestasis of pregnancy
- Jejunal atresia
- Johanson-Blizzard syndrome
- Juvenile polyposis syndrome
- Kabuki syndrome
- Kernicterus
- Klatskin tumor
- Limb-body wall complex
- LRBA deficiency
- Lucey-Driscoll syndrome
- Lynch syndrome - Not a rare disease
- Malakoplakia
- Mallory-Weiss syndrome
- Meckel syndrome
- Megacystis microcolon intestinal hypoperistalsis syndrome
- Megaduodenum and/or megacystis
- Menetrier disease
- Mental retardation skeletal dysplasia abducens palsy
- Microgastria limb reduction defect
- Microphthalmia syndromic 9
- Microphthalmia with linear skin defects syndrome
- Microvillus inclusion disease
- Mitochondrial neurogastrointestinal encephalopathy syndrome
- MOGS-CDG (CDG-IIb)
- MPI-CDG (CDG-Ib)
- MPV17-related hepatocerebral mitochondrial DNA depletion syndrome
- Muir-Torre syndrome
- Multiple endocrine neoplasia type 1
- Multiple endocrine neoplasia type 2A
- Multiple endocrine neoplasia type 2B
- Multisystemic smooth muscle dysfunction syndrome
- MURCS association
- Necrotizing enterocolitis
- Neonatal adrenoleukodystrophy
- Neonatal hemochromatosis
- Nodular regenerative hyperplasia
- Occipital horn syndrome
- Omphalocele cleft palate syndrome lethal
- Omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex
- Omphalomesenteric cyst
- Pallister-Hall syndrome
- Pallister-Killian mosaic syndrome
- Pancreatic adenoma
- Pancreatic cancer
- Pearson syndrome
- Pediatric Crohn's disease
- Pediatric ulcerative colitis
- Pentalogy of Cantrell
- Peutz-Jeghers syndrome
- PGM1-CDG
- Plummer Vinson syndrome
- PMM2-CDG (CDG-Ia)
- Polycystic liver disease
- Primary biliary cholangitis
- Primary intestinal lymphangiectasia
- Primary liver cancer
- Primary sclerosing cholangitis
- Progressive familial intrahepatic cholestasis 1
- Progressive familial intrahepatic cholestasis type 2
- Progressive familial intrahepatic cholestasis type 3
- Pseudomyxoma peritonei
- Refsum disease, infantile form
- Renal nutcracker syndrome
- Retroperitoneal fibrosis
- Reynolds syndrome
- RFT1-CDG (CDG-In)
- Ring chromosome 13
- Rotor syndrome
- Sandifer syndrome
- Satoyoshi syndrome
- SCARF syndrome
- Sclerosing mesenteritis
- Short rib-polydactyly syndrome type 3
- Shprintzen omphalocele syndrome
- Shwachman-Diamond syndrome
- Simpson-Golabi-Behmel syndrome
- Sirenomelia
- Small Intestinal Adenocarcinoma
- Splenogonadal fusion limb defects micrognatia
- Stalker Chitayat syndrome
- STAR syndrome
- Superior mesenteric artery syndrome
- Syndromic microphthalmia, type 3
- Thoraco abdominal enteric duplication
- TMEM165-CDG (CDG-IIk)
- Townes-Brocks syndrome
- Transient infantile liver failure
- Trichohepatoenteric syndrome
- Triple A syndrome
- Trisomy 13
- Trisomy 18
- Tufting enteropathy
- Tylosis with esophageal cancer
- Tyrosinemia type 1
- Ulnar-mammary syndrome
- VACTERL association
- VIPoma
- Waardenburg syndrome type 4
- Watermelon stomach
- Whipple disease
- Wilson disease
- Wolf-Hirschhorn syndrome
- Wolman disease
- Wrinkly skin syndrome
- Zellweger syndrome
- Zollinger-Ellison syndrome
NIH genetic and rare disease info[edit source]
List of rare digestive diseases is a rare disease.
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Contributors: Prab R. Tumpati, MD