Disease | Gene | Location | Function |
Defects of digestion, absorption, and transport of nutrients and electrolytes | |||
Disaccharidase deficiency | |||
Congenital lactase deficiency | LCT | 2q21 | Lactase-phlorizin hydrolase activity |
Sucrase-isomaltase deficiency | EC 3.2.1.48 | 3q25-q26 | Isomaltase-sucrase |
Maltase-glucoamylase deficiency | MGAM | 7q34 | Maltase-glucoamylase activity |
Ion and nutrient transport defects | |||
Glucose-galactose malabsorption | SLC5A1 (SGLT1) | 22q13.1 | Na+/glucose cotransporter |
Fructose malabsorption | GLUT5 | 1p36 | Fructose transporter |
Fanconi-Bickel syndrome | GLUT2 | 3q26 | Basolateral glucose transporter |
Cystic fibrosis | CFTR | 7q31.2 | cAMP-dependent Cl– channel |
Acrodermatitis enteropathica | SLC39A4 | 8q24.3 | Zn2+ transporter |
Congenital chloride diarrhea | SLC26A3 (DRA) | 7q22-q31.1 | Cl–/base exchanger |
Congenital sodium diarrhea | SPINT2* | 19q13.1 | Serine-protease inhibitor |
Familial diarrhea syndrome[1] | GUCY2C | 12p12.3 | Intestinal guanylate cyclase C (ligand for bacterial heat-stable enterotoxins) |
Lysinuric protein intolerance | SLC7A7 | 14q11 | Hydrolyzes endo-/exopeptidases, amino acid basolateral transport |
Congenital bile acid diarrhea | SLC10A2 (ABAT) | 13q33 | Ileal Na+/bile salt transporter |
Pancreatic insufficiency | |||
Enterokinase deficiency | PRSS7 | 21q21 | Proenterokinase |
Trypsinogen deficiency | PRSS1 | 7q35 | Trypsinogen synthesis |
Pancreatic lipase deficiency | PNLIP | 10q26.1 | Hydrolyzes triglycerides to fatty acids |
Lipid trafficking | |||
Abetalipoproteinemia | MTP | 4q22 | Transfer lipids to apolipoprotein B |
Hypobetalipoproteinemia | APOB | 2p24 | Apolipoprotein that forms chylomicrons |
Chylomicron retention disease | SAR1B | 5q31.1 | Intracellular chylomicron trafficking |
Diacylglycerol acyltransferase 1 deficiency[2] | DGAT1 | 8q24.3 | Enzyme that catalyzes the final step in triglyceride synthesis |
Defects of enterocyte differentiation and polarization | |||
Microvillous inclusion disease | MY05B | 18q21 | Intracellular protein trafficking |
Congenital tufting enteropathy | EpCAM | 2p21 | Cell-cell interaction |
Syndromic diarrhea | Unknown | Unknown | Unknown |
Defects of enteroendocrine cell differentiation | |||
Enteric anendocrinosis | NEUROG3 | 10q21.3 | Enteroendocrine cell fate determination |
Enteric dysendocrinosis | Unknown | Unknown | Enteroendocrine cell function |
Proprotein convertase 1 deficiency | PCSK1 | 5q15-q21 | Prohormone processing |
Defects of modulation of the intestinal immune response | |||
IPEX | FOXP3 | Xp11.23-q13.3 | Transcription factor |
IPEX-like syndrome | Unknown | Unknown | Unknown |
Immunodeficiency-associated autoimmune enteropathy | Unknown | Unknown | Unknown |
APS-1 | AIRE | 21p22.3 | Regulation gene transcription |
Autoimmune enteropathy with colitis-GAGD | Unknown | Unknown | Unknown |
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