Genetic Diseases & Conditions - 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
acute intermittent porphyria
Adenomatous Polyposis Coli see familial adenomatous polyposis
Adenomatous Polyposis of the Colon see familial adenomatous polyposis
ADP see ALAD deficiency porphyria
AIP see acute intermittent porphyria
5-ALA dehydratase-deficient porphyria see ALAD deficiency porphyria
ALA-D porphyria see ALAD deficiency porphyria
ALA dehydratase porphyria see ALAD deficiency porphyria
ALAD deficiency porphyria
Alagille syndrome
alpha-1 antitrypsin deficiency
Alström syndrome
Amino levulinic acid dehydratase deficiency see ALAD deficiency porphyria
5-aminolaevulinic dehydratase deficiency porphyria see ALAD deficiency porphyria
arteriohepatic dysplasia (AHD) see Alagille syndrome
Arthrochalasis multiplex congenita see Ehlers-Danlos syndrome, arthrochalasia type
Autosomal dominant Opitz G/BBB syndrome see 22q11.2 deletion syndrome
BDLS see Cornelia de Lange syndrome
Brachmann-De Lange Syndrome see Cornelia de Lange syndrome
Cancer Family Syndrome see hereditary nonpolyposis colorectal cancer
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
Classic Galactosaemia see galactosaemia
Classical Ehlers-Danlos syndrome see Ehlers-Danlos syndrome, classical type
Classical Niemann-Pick Disease see Niemann-Pick disease
COCA 1 see hereditary nonpolyposis colorectal cancer
Colitis, Granulomatous see Crohn disease
Colon cancer, familial see familial adenomatous polyposis
Colon Cancer, Familial Nonpolyposis see hereditary nonpolyposis colorectal cancer
Conotruncal anomaly face syndrome (CTAF) see 22q11.2 deletion syndrome
Copper storage disease see Wilson disease
Coproporphyria, Hereditary see hereditary coproporphyria
Coproporphyrinogen oxidase deficiency see hereditary coproporphyria
Cornelia de Lange syndrome
CPO deficiency see hereditary coproporphyria
CPRO deficiency see hereditary coproporphyria
CPX deficiency see hereditary coproporphyria
Crohn disease
cystic fibrosis
DAF syndrome see Niemann-Pick disease
De Lange Syndrome see Cornelia de Lange syndrome
22q11.2 deletion syndrome
Delta-aminolevulinate dehydratase deficiency porphyria see ALAD deficiency porphyria
Dermatosparactic type of Ehlers-Danlos syndrome see Ehlers-Danlos syndrome, dermatosparaxis type
Dermatosparaxis see Ehlers-Danlos syndrome, dermatosparaxis type
DiGeorge Syndrome see 22q11.2 deletion syndrome
Doss porphyria see ALAD deficiency porphyria
EDS see Ehlers-Danlos syndrome
Ehlers-Danlos syndrome
Enteritis, Granulomatous see Crohn disease
Enteritis, Regional see Crohn disease
familial adenomatous polyposis
Familial nonpolyposis colon cancer see hereditary nonpolyposis colorectal cancer
FAP see familial adenomatous polyposis
Fibrocystic Disease of Pancreas see cystic fibrosis
Galactokinase Deficiency Disease see galactosaemia
Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease see galactosaemia
galactosaemia
GALT Deficiency see galactosaemia
genetic emphysema see alpha-1 antitrypsin deficiency
HCP see hereditary coproporphyria
Hematoporphyria see porphyria
hepatic ductular hypoplasia see Alagille syndrome
hepatofacioneurocardiovertebral syndrome see Alagille syndrome
Hepatolenticular degeneration syndrome see Wilson disease
hereditary coproporphyria
hereditary nonpolyposis colorectal cancer
Hereditary Polyposis Coli see familial adenomatous polyposis
hereditary pulmonary emphysema see alpha-1 antitrypsin deficiency
HNPCC see hereditary nonpolyposis colorectal cancer
Human dermatosparaxis see Ehlers-Danlos syndrome, dermatosparaxis type
Hydroxymethylbilane synthase deficiency see acute intermittent porphyria
Ileitis see Crohn disease
Ileocolitis see Crohn disease
inherited emphysema see alpha-1 antitrypsin deficiency
Intermittent acute porphyria syndrome see acute intermittent porphyria
Intestinal polyposis-cutaneous pigmentation syndrome see Peutz-Jeghers syndrome
Lentiginosis, Perioral see Peutz-Jeghers syndrome
lipoid histiocytosis (classical phosphatide) see Niemann-Pick disease
Lynch Syndrome see hereditary nonpolyposis colorectal cancer
Lysyl-hydroxylase deficiency see Ehlers-Danlos syndrome, kyphoscoliosis type
Mucoviscidosis see cystic fibrosis
MYH-associated polyposis see familial adenomatous polyposis
neuroneal Cholesterol Lipidosis see Niemann-Pick disease
Niemann-Pick disease
NPD see Niemann-Pick disease
Ophthalmoplegia, Supraoptic Vertical see Niemann-Pick disease
paucity of interlobular bile ducts see Alagille syndrome
PBGD deficiency see acute intermittent porphyria
Periorificial lentiginosis syndrome see Peutz-Jeghers syndrome
Peutz-Jeghers syndrome
PJS see Peutz-Jeghers syndrome
Plumboporphyria see ALAD deficiency porphyria
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
Porphobilinogen deaminase deficiency see acute intermittent porphyria
Porphobilinogen synthase deficiency see ALAD deficiency porphyria
porphyria
porphyrin disorder see porphyria
PPOX deficiency see variegate porphyria
Procollagen type EDS VII, mutant see Ehlers-Danlos syndrome, arthrochalasia type
Protoporphyrinogen oxidase deficiency see variegate porphyria
Pyrroloporphyria see acute intermittent porphyria
Sack-Barabas syndrome see Ehlers-Danlos syndrome, vascular type
Sedlackova syndrome see 22q11.2 deletion syndrome
Shprintzen syndrome see 22q11.2 deletion syndrome
South African genetic porphyria see variegate porphyria
Sphingomyelin/cholesterol lipidosis see Niemann-Pick disease
Sphingomyelin lipidosis see Niemann-Pick disease
Sphingomyelinase deficiency see Niemann-Pick disease
Swedish genetic porphyria see acute intermittent porphyria
Swedish porphyria see acute intermittent porphyria
UDP-Galactose-4-Epimerase Deficiency Disease see galactosaemia
UDPglucose 4-Epimerase Deficiency Disease see galactosaemia
UDPglucose Hexose-1-Phosphate Uridylyltransferase Deficiency see galactosaemia
UPS deficiency see acute intermittent porphyria
Uroporphyrinogen synthase deficiency see acute intermittent porphyria
UTP Hexose-1-Phosphate Uridylyltransferase Deficiency see galactosaemia
variegate porphyria
VCFS see 22q11.2 deletion syndrome
Velo-cardio-facial syndrome see 22q11.2 deletion syndrome
Velocardiofacial syndrome see 22q11.2 deletion syndrome
VP see variegate porphyria
Watson-Miller syndrome see Alagille syndrome
WD - Wilson's disease see Wilson disease
Wilson disease