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Gene: Soat2 MGI:1332226

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

sterol O-acyltransferase 2

Synonyms:

D15Wsu97e, ACAT2

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Soat2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Soat2 (0 diseases)
Human diseases predicted to be associated with Soat2 (383 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Soat2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Glycogen Storage Disease Vi	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia, Hypercholester...	OMIM:232700
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly, Hypertriglyceridemia	OMIM:619175
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:620058
Atherosclerosis Susceptibility	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:108725
Cholesteryl Ester Storage Disease	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Diarrhea, Esophageal varix, Cirrhosis...	ORPHA:75234
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis...	OMIM:614480
Pancreatic Lipase Deficiency	Fat malabsorption, Hypocholesterolemia, Steatorrhea	OMIM:614338
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia,...	OMIM:607765
Chylomicron Retention Disease	Diarrhea, Accumulation of lipid droplets in small-bowel enterocytes, Decreased LDL cholesterol co...	OMIM:246700
Diarrhea 7, Protein-Losing Enteropathy Type	Villous atrophy, Hyperlipidemia, Diarrhea, Protein-losing enteropathy, Hypoalbuminemia, Vomiting,...	OMIM:615863
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:619868
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr...	OMIM:615703
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating aspartate ami...	OMIM:615558
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
Fish-Eye Disease	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:136120
Congenital Disorder Of Glycosylation, Type Iip	Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c...	OMIM:616829
Sitosterolemia 2	Elevated circulating sitosterol concentration, Hypercholesterolemia	OMIM:618666
Glycogen Storage Disease Ixa1	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, H...	OMIM:306000
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia	ORPHA:366
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr...	OMIM:603471
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Hypertriglyceridemia, Hepatic steatosis	ORPHA:436182
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Conjugated hyperbilirubinemia, Spleno...	OMIM:214900
Lipase Deficiency, Combined	Hypertriglyceridemia, Pancreatitis	OMIM:246650
Chylomicron Retention Disease	Elevated hepatic transaminase, Hypertriglyceridemia, Increased hepatocellular lipid droplets, Dia...	ORPHA:71
Neutral Lipid Storage Disease With Myopathy	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ...	OMIM:610717
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypersplenism, Hepatomegaly, Splenomegaly, Hypocholesterolemia	OMIM:610539
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholeste...	OMIM:612526
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E...	OMIM:616828
Glycosylphosphatidylinositol Biosynthesis Defect 17	Hypertriglyceridemia, High palate	OMIM:618010
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia, Hepatosplenomegaly	OMIM:608898
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hepatomegaly, Hypertriglyceridemia	OMIM:615924
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circula...	OMIM:605814
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration...	OMIM:207750
Protoporphyria, Erythropoietic, 1	Cholelithiasis, Hypertriglyceridemia, Hepatic failure	OMIM:177000
Cholesteryl Ester Storage Disease	Acute hepatic failure, Decreased HDL cholesterol concentration, Hepatic fibrosis, Vomiting, Hepat...	OMIM:278000
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619662
Niemann-Pick Disease, Type B	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increa...	OMIM:607616
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, H...	OMIM:300635
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia	OMIM:608320
Hypertriglyceridemia 1	Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Low Phospholipid-Associated Cholelithiasis	Elevated hepatic transaminase, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirr...	ORPHA:69663
Hyperlipoproteinemia, Type I	Nausea, Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Vomiting, I...	OMIM:238600
Coronary Artery Disease, Autosomal Dominant 2	Increased LDL cholesterol concentration, Hypertriglyceridemia	OMIM:610947
Papular Xanthoma	Hyperlipidemia	ORPHA:158008
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, J...	OMIM:603552
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Acute hepa...	ORPHA:209902
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct prolif...	OMIM:613027
Peroxisome Biogenesis Disorder 3B	Hepatomegaly, Elevated circulating phytanic acid concentration, Hypocholesterolemia, Steatorrhea	OMIM:266510
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina...	OMIM:616516
Hypothyroidism, Congenital, Nongoitrous, 8	Hypercholesterolemia, Constipation	OMIM:301033
Plin1-Related Familial Partial Lipodystrophy	Hepatic steatosis, Hypertriglyceridemia, Hepatic fibrosis	ORPHA:280356
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c...	OMIM:144250
Hyperlipoproteinemia, Type Id	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre...	OMIM:615947
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol...	OMIM:616834
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg...	OMIM:613101
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:245900
Pancreatic Colipase Deficiency	Chronic diarrhea, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine pancreatic insufficiency	ORPHA:309108
Lipodystrophy, Familial Partial, Type 4	Hypertriglyceridemia, Hepatic steatosis	OMIM:613877
Secondary Short Bowel Syndrome	Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys...	ORPHA:95427
Lipodystrophy, Familial Partial, Type 1	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia	OMIM:608600
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Increased C-peptide level	OMIM:615238
Alpha-Heavy Chain Disease	Hepatomegaly, Abnormal small intestine morphology, Malabsorption, Splenomegaly, Hypocalcemia	ORPHA:100025
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jau...	ORPHA:1414
Bile Acid Malabsorption, Primary, 1	Increased fecal bile acid, Fat malabsorption, Chronic diarrhea, Steatorrhea	OMIM:613291
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia	ORPHA:71529
Immunodeficiency 109 With Lymphoproliferation	Splenomegaly, Hypertriglyceridemia	OMIM:620282
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hyperlipidemia, Portal fibrosis, Hepatic fibrosis, C...	ORPHA:369
Citrullinemia Type Ii	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp...	ORPHA:247585
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration	ORPHA:140905
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H...	ORPHA:247598
Congenital Short Bowel Syndrome	Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Chronic diarrhea, Decreased in...	OMIM:615237
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ...	ORPHA:264580
Mitchell-Riley Syndrome	Absent gallbladder, Jejunal atresia, Intestinal malrotation, Malabsorption, Diarrhea, Biliary atr...	OMIM:615710
Secondary Intestinal Lymphangiectasia	Intestinal obstruction, Intestinal lymphedema, Increased stool alpha1-antitrypsin concentration, ...	ORPHA:90363
Congenital Bile Acid Synthesis Defect Type 3	Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala...	ORPHA:79302
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Elevated hepatic transaminase, Hypertriglyceridemia, Elevated circulating C-reactive protein conc...	ORPHA:158057
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Elevated hepatic transaminase, Hyperlipidemia	ORPHA:329249
Rajab Interstitial Lung Disease With Brain Calcifications 2	Elevated hepatic transaminase, Hypertriglyceridemia, Hepatosplenomegaly, Hypoalbuminemia, Hepatic...	OMIM:619013
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Splenomegaly, Diarrhea, In...	OMIM:601847
Somatostatinoma	Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Neoplasm of the pancreas, Hype...	ORPHA:97283
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis	ORPHA:79085
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality	OMIM:237500
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Portal hypertension, Conjugated hyp...	ORPHA:567983
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Villous atrophy, Diarrhea, Hepatic fibrosis, Protein-losing enteropathy, Hypoalbumi...	OMIM:602579
Body Mass Index Quantitative Trait Locus 19	Hyperlipidemia, Hypertriglyceridemia	OMIM:617885
Mpi-Cdg	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Diarrhea, Hepatic fibrosis, Prote...	ORPHA:79319
Gallbladder Disease 1	Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f...	OMIM:600803
Distal Myopathy, Tateyama Type	Hypercholesterolemia, Abnormal circulating creatine kinase concentration	ORPHA:488650
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Elevated hepatic transaminase,...	ORPHA:131
Lipodystrophy, Familial Partial, Type 3	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia, Cirrhosis, Hepatic ...	OMIM:604367
Glycogen Storage Disease Iii	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:232400
Severe Neurodegenerative Syndrome With Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Cirrhosis	ORPHA:363400
Congenital Tufting Enteropathy	Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor...	ORPHA:92050
Potocki-Lupski Syndrome	Gastroesophageal reflux, Hypocholesterolemia, High palate, Oral-pharyngeal dysphagia	OMIM:610883
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ...	ORPHA:79240
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypercholesterolemia, Chronic constipation, Hyperammonemia, Increased C-peptide level	OMIM:620211
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Spl...	OMIM:211600
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Hypoalbuminemia	ORPHA:94124
Meckel Diverticulum	Meckel diverticulum	OMIM:155140
Blood Group, Cromer System	Protein-losing enteropathy	OMIM:613793
Analbuminemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat...	OMIM:616000
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ...	ORPHA:412
Congenital Generalized Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Macroglossia, Cirrhosis, Hypercholesterolemia, Hepatic steato...	ORPHA:528
Cog4-Cdg	Elevated hepatic transaminase, Fatal liver failure in infancy, Hepatosplenomegaly, Cirrhosis, Int...	ORPHA:263501
Familial Chylomicronemia Syndrome	Acute pancreatitis, Hypertriglyceridemia, Perianal abscess, Hyperlipidemia, Jaundice, Hepatosplen...	ORPHA:444490
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Peritonitis, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating li...	ORPHA:567548
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Hypoalbuminemia	OMIM:607250
Cidec-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Pancreatitis	ORPHA:435651
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hepatomegaly, Hypocholesterolemia	OMIM:618810
Macrophage Activation Syndrome	Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration...	ORPHA:158061
Peutz-Jeghers Syndrome	Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Neoplasm of the colon, In...	ORPHA:2869
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating alanine a...	OMIM:615381
Bile Acid Synthesis Defect, Congenital, 4	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate...	OMIM:214950
Temple Syndrome	Hypertriglyceridemia, Cleft palate, High palate, Hypercholesterolemia, Bifid uvula	OMIM:616222
Biliary Atresia, Extrahepatic	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres...	OMIM:210500
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,...	ORPHA:79303
Hypercholesterolemia, Familial, 3	Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia	OMIM:603776
Abdominal Obesity-Metabolic Syndrome 4	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:618620
Alg6-Cdg	Jaundice, Decreased LDL cholesterol concentration, Macroglossia, Abnormality of the liver, Protei...	ORPHA:79320
Inflammatory Bowel Disease (Crohn Disease) 30	Gastritis, Duodenitis, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-losing enteropathy,...	OMIM:619079
Squalene Synthase Deficiency	Increased circulating farnesol concentration, Decreased LDL cholesterol concentration, Elevated c...	OMIM:618156
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:618398
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa...	OMIM:267700
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin...	ORPHA:540
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Intrahepatic cholestasis, Jaundice, S...	OMIM:602347
Hypercholesterolemia, Familial, 2	Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia	OMIM:144010
Chronic Diarrhea Due To Glucoamylase Deficiency	Abnormal small intestinal mucosa morphology, Malabsorption, Decreased small intestinal mucosa lac...	ORPHA:103907
Lipe-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Elevated circulating creatine kinase conce...	ORPHA:435660
Fanconi-Bickel Syndrome	Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration...	ORPHA:2088
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Splenomegaly, Jaundice, Cholecystitis, Hyperbilirubinemia, Cholelithiasis	OMIM:235700
Hypercholanemia, Familial 1	Fat malabsorption, Increased serum bile acid concentration, Steatorrhea	OMIM:607748
Abdominal Obesity-Metabolic Syndrome 3	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:615812
Smith-Magenis Syndrome	Hypercholesterolemia, Velopharyngeal insufficiency, Hypertriglyceridemia, Constipation	OMIM:182290
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Abnormality of the gastrointestinal tract, Hyperlipidemia, Elevated hepatic transaminase	ORPHA:2089
Eosinophilic Gastroenteritis	Abnormality of the gastrointestinal tract, Elevated circulating C-reactive protein concentration,...	ORPHA:2070
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:650
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Hypoproteinemia, Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration	OMIM:221400
Galactokinase Deficiency	Hepatomegaly, Hepatosplenomegaly, Increased level of galactitol in plasma, Hypergalactosemia, Hyp...	ORPHA:79237
Ataxia With Vitamin E Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma	OMIM:277460
Pyruvate Kinase Deficiency Of Red Cells	Hepatomegaly, Splenomegaly, Jaundice, Cholecystitis, Unconjugated hyperbilirubinemia, Cholelithia...	OMIM:266200
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, Cirrhosis, Hepatic steatosis, Pa...	ORPHA:79083
Abetalipoproteinemia	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Chronic dia...	ORPHA:14
Lysosomal Acid Lipase Deficiency	Hyponatremia, Elevated hepatic transaminase, Fatal liver failure in infancy, Hypertriglyceridemia...	ORPHA:275761
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Di...	ORPHA:103910
Maternal Uniparental Disomy Of Chromosome 4	Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Diarrhea, Decreased LDL...	ORPHA:96180
Protoporphyria, Erythropoietic, X-Linked	Elevated hepatic transaminase, Cholelithiasis, Increased erythrocyte protoporphyrin concentration	OMIM:300752
Alg1-Cdg	Abnormality of the gastrointestinal tract, Chronic diarrhea, Protein-losing enteropathy, Hypoalbu...	ORPHA:79327
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic steatosis, Pancreatitis	ORPHA:2348
Congenital Disorder Of Glycosylation, Type Ia	Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Diarrhea, Steatorrhea, Hepatic fibr...	OMIM:212065
Refractory Celiac Disease	Elevated hepatic transaminase, Villous atrophy, Malabsorption, Chronic diarrhea, Hypophosphatemia...	ORPHA:398063
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Increased circulating ferritin concentration, Hypoplastic spleen, Hypertriglyceridemia, Diarrhea	OMIM:619313
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Hypercholesterolemia, High palate	ORPHA:254531
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:255120
Lipodystrophy, Familial Partial, Type 6	Hyperlipidemia, Abnormal circulating lipid concentration, Hepatic steatosis, Elevated circulating...	OMIM:615980
Gaisböck Syndrome	Hypertriglyceridemia, Peptic ulcer, Splenomegaly, Hyperproteinemia, Increased circulating renin l...	ORPHA:90041
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Atretic gallbladder, ...	ORPHA:30391
Lipodystrophy, Congenital Generalized, Type 4	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ...	OMIM:613327
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Increased circul...	OMIM:603553
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hyperuricemia	ORPHA:364
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Diarrhea, Elevated circulating creatinine concentration, Cholestasis, Protein-losin...	OMIM:608104
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Protein-losing enteropathy, Hyperglycinemia	OMIM:619063
Visceral Myopathy 2	Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr...	OMIM:619350
Hyperbiliverdinemia	Cholelithiasis, Elevated circulating biliverdin concentration, Decreased liver function, Cholestasis	OMIM:614156
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Cirrhosis, Abnormal circulating lipid con...	ORPHA:79086
Tangier Disease	Hepatosplenomegaly, Hypertriglyceridemia, Hypocholesterolemia	ORPHA:31150
Neutral Lipid Storage Disease With Ichthyosis	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Abnorm...	ORPHA:98907
Immunodeficiency 97 With Autoinflammation	Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, Diarrhea, Enter...	OMIM:619802
Werner Syndrome	Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration, Elevated hem...	OMIM:277700
Trichohepatoenteric Syndrome 2	Hepatomegaly, Villous atrophy, Decreased serum iron, Diarrhea, Chronic diarrhea, Chronic hepatiti...	OMIM:614602
Mandibuloacral Dysplasia	Hypertriglyceridemia, Increased circulating free fatty acid level, Abnormal tongue morphology, Hi...	ORPHA:2457
Metachromatic Leukodystrophy	Gallbladder dysfunction, Cholecystitis	OMIM:250100
Autoinflammatory Disease, Familial, Behcet-Like 3	Ileitis	OMIM:618287
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Microvesicular hepatic steatosis, Splenomeg...	OMIM:619418
Acth Deficiency, Isolated	Cholestasis, Decreased circulating cortisol level, Jaundice	OMIM:201400
Mednik Syndrome	Jejunal atresia, Diarrhea, Cholestasis, Hepatic fibrosis, Increased circulating very long-chain f...	OMIM:609313
Ataxia-Oculomotor Apraxia 4	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Griscelli Syndrome Type 2	Splenomegaly, Hepatomegaly, Hyperlipidemia, Jaundice	ORPHA:79477
Lipodystrophy, Familial Partial, Type 2	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ...	OMIM:151660
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Vomiting, Hepatomegaly, Abnormal circulating serine conc...	ORPHA:470
Carnitine Palmitoyl Transferase 1A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Transient hyperlipidemia	ORPHA:156
Immunodeficiency 87 And Autoimmunity	Hepatomegaly, Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Hypertriglyceridemi...	OMIM:619573
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Malabsorption, Diarrhea, Xerostomia, Hamartomatous polyposis, Hematochezia, Hypokalemia, Protein-...	OMIM:175500
Mednik Syndrome	Intrahepatic cholestasis, Decreased circulating copper concentration, Decreased circulating cerul...	ORPHA:171851
Griscelli Syndrome Type 1	Hyperlipidemia	ORPHA:79476
Multiple Intestinal Atresia	Gastrointestinal atresia, Duodenal stenosis	ORPHA:2300
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia	OMIM:610644
Immunodeficiency 47	Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Decreased circulating copper conce...	OMIM:300972
Alstrom Syndrome	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Chronic act...	OMIM:203800
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Hypoalbuminemia	OMIM:603278
Seckel Syndrome 10	Acute pancreatitis, Hypertriglyceridemia, Elevated hemoglobin A1c, Elevated circulating aspartate...	OMIM:617253
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperlipidemia, Mildly elevated creatine kinase	OMIM:604484
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly	OMIM:617591
Cholestasis, Benign Recurrent Intrahepatic, 2	Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Cholelithiasis	OMIM:605479
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Hypersplenism, Splen...	ORPHA:77293
Smith-Magenis Syndrome	Hypertriglyceridemia, Cleft palate, Constipation, Gastroesophageal reflux, Hypercholesterolemia	ORPHA:819
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Secretory diarrhea, Hematochezia, Hypoalbuminemia, Protein-lo...	OMIM:618183
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Pyloric stenosis, Cleft palate, High palate, Hypercholesterolemia, Bifid uvula	ORPHA:96184
Proprotein Convertase 1/3 Deficiency	Villous atrophy, Decreased circulating cortisol level, Diarrhea, Malabsorption	OMIM:600955
Osteootohepatoenteric Syndrome	Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Microvesicular hep...	OMIM:619377
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen...	ORPHA:64753
Martinez-Frias Syndrome	Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Ex...	OMIM:601346
Nephrotic Syndrome, Type 11	Hypercholesterolemia, High palate, Hypoalbuminemia, Cleft palate	OMIM:616730
Diarrhea 5, With Tufting Enteropathy, Congenital	Intractable diarrhea, Villous atrophy, Crypt hyperplasia	OMIM:613217
Caroli Disease	Cholangiocarcinoma, Hepatomegaly, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp...	ORPHA:53035
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia, Diarrhea, Hepatocellular adenoma, Enterocolit...	ORPHA:79259
Neutral Lipid Storage Myopathy	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Chronic pancreatitis, Abnormal...	ORPHA:98908
Lmna-Related Cardiocutaneous Progeria Syndrome	Abnormal intrahepatic bile duct morphology, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:363618
Autoinflammation With Infantile Enterocolitis	Villous atrophy, Elevated circulating C-reactive protein concentration, Increased circulating fer...	OMIM:616050
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Pigment gallstones, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis	OMIM:613470
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia	ORPHA:66628
Reni Syndrome	Hypertriglyceridemia, Hypoalbuminemia	OMIM:617575
Laron Syndrome	Hypercholesterolemia	ORPHA:633
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:208920
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia	ORPHA:179494
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina...	ORPHA:98855
Nephrotic Syndrome, Type 1	Pyloric stenosis, Hyperlipidemia, Gastroesophageal reflux, Hypoalbuminemia, Hypoproteinemia	OMIM:256300
Hemophagocytic Syndrome Associated With An Infection	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin...	ORPHA:158048
Diarrhea 12, With Microvillus Atrophy	Villous atrophy, Microvillus inclusions, Secretory diarrhea, Vomiting, Microvillar PAS-positive s...	OMIM:619445
Congenital Analbuminemia	Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia	ORPHA:86816
Intrahepatic Cholestasis Of Pregnancy	Elevated hepatic transaminase, Abnormality of the pancreas, Jaundice, Cholecystitis, Increased se...	ORPHA:69665
Glycogen Storage Disease Xii	Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Jaundice, Elevate...	OMIM:611881
Morgagni-Stewart-Morel Syndrome	Hypercholesterolemia, Hyperuricemia	ORPHA:77296
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis	Villous atrophy, Abnormal intestine morphology, Protracted diarrhea	OMIM:251850
X-Linked Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina...	ORPHA:98863
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina...	ORPHA:98853
Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina...	ORPHA:261
Alg12-Cdg	Hyponatremia, Elevated hepatic transaminase, Intestinal malrotation, Hypoalbuminemia, Gastroesoph...	ORPHA:79324
Gallbladder Neuroendocrine Tumor	Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Cholecystitis, Nausea, B...	ORPHA:100086
Triploidy	Hepatomegaly, Intestinal malrotation, Abnormality of the pancreas, Abnormality of the gallbladder...	ORPHA:3376
Alagille Syndrome 1	Elevated hepatic transaminase, Hypertriglyceridemia, Cholestasis, Reduced number of intrahepatic ...	OMIM:118450
Abetalipoproteinemia	Fat malabsorption, Abetalipoproteinemia	OMIM:200100
Sitosterolemia 1	Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Splenomegaly, Xanthel...	OMIM:210250
Kaufman Oculocerebrofacial Syndrome	Constipation, High palate, Intestinal malrotation, Hypocholesterolemia	OMIM:244450
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepati...	ORPHA:280365
Xp21 Deletion Syndrome	Hypertriglyceridemia, Elevated circulating creatine kinase concentration	ORPHA:261476
Vascular Hyalinosis	Hematochezia, Diarrhea, Protein-losing enteropathy, Malabsorption	OMIM:277175
9Q31.1Q31.3 Microdeletion Syndrome	Hypercholesterolemia	ORPHA:401923
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Intestinal pseudo-obstruction, Intestinal malrotation, Pyloric stenosis, Vomiting, Congenital sho...	OMIM:300048
H Syndrome	Hepatosplenomegaly, Hypertriglyceridemia, Malabsorption	ORPHA:168569
Galloway-Mowat Syndrome 7	Hypercholesterolemia, High palate, Cleft palate	OMIM:618348
Diarrhea 9	Villous atrophy, Diarrhea	OMIM:618168
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Protein-losing ente...	ORPHA:731
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Splenomega...	OMIM:608594
Dubowitz Syndrome	Velopharyngeal insufficiency, Submucous cleft hard palate, Chronic diarrhea, Gastroesophageal ref...	OMIM:223370
Smith-Lemli-Opitz Syndrome	Hepatomegaly, Aganglionic megacolon, Intestinal malrotation, Pyloric stenosis, Gastrointestinal d...	OMIM:270400
Microtriplication 11Q24.1	Hyperlipidemia, Cleft palate	ORPHA:289522
Glycerol Kinase Deficiency	Hypertriglyceridemia, Episodic vomiting, Hyperglycerolemia, Chronic pancreatitis	OMIM:307030
Primary Biliary Cholangitis	Portal hypertension, Celiac disease, Conjugated hyperbilirubinemia, Jaundice, Hepatic failure, Bi...	ORPHA:186
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Hyperlipidemia, X...	OMIM:232220
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Hepatomegaly, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hepatoce...	OMIM:232200
Diarrhea 11, Malabsorptive, Congenital	Villous atrophy, Diarrhea	OMIM:618662
Mirizzi Syndrome	Elevated hepatic transaminase, Nausea, Pancreatitis, Jaundice, Cholesterol gallstones, Vomiting, ...	ORPHA:521219
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated h...	OMIM:269700
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Biliary tract abnormality, Protract...	OMIM:209920
Methanol Poisoning	Hyperlipidemia, Vomiting, Diarrhea	ORPHA:31825
Primary Intestinal Lymphangiectasia	Increased stool alpha1-antitrypsin concentration, Peritoneal effusion, Chronic diarrhea, Function...	ORPHA:90362
Thoraco-Abdominal Enteric Duplication	Hepatomegaly, Intestinal malrotation, Duodenal stenosis	ORPHA:1759
Isolated Thyroid-Stimulating Hormone Deficiency	Macroglossia, Constipation, Prolonged neonatal jaundice, Hypercholesterolemia, Abnormal circulati...	ORPHA:90674
Rett Syndrome	Increased serum pyruvate, Cholecystitis, Hyperammonemia	ORPHA:778
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypercholesterolemia, Vomiting, Nausea	ORPHA:90065
Neuhauser Syndrome	Hypercholesterolemia, High palate, Bifid uvula, Dysphagia	OMIM:249310
Oculoskeletodental Syndrome	Hepatomegaly, Hypercalcemia, Splenomegaly, Macroglossia, Protein-losing enteropathy, Hypocalcemia	OMIM:618440
Annular Pancreas	Annular pancreas, High intestinal obstruction, Duodenal stenosis	ORPHA:675
Pancreas, Annular	Annular pancreas, High intestinal obstruction, Duodenal stenosis	OMIM:167750
Chédiak-Higashi Syndrome	Hyponatremia, Elevated hepatic transaminase, Hypertriglyceridemia, Increased circulating ferritin...	ORPHA:167
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Splenomegaly, Pancreatic lymphangiectasis, Cleft palate, High palate, Hypocalcemia,...	OMIM:235255
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:157
Bardet-Biedl Syndrome 20	Elevated hepatic transaminase, Hypercholesterolemia, Pancreatitis	OMIM:619471
Spherocytosis, Type 1	Splenomegaly, Jaundice, Cholelithiasis, Hyperbilirubinemia	OMIM:182900
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:228308
Vacterl/Vater Association	Abnormality of the pancreas, Anorectal anomaly, Abnormality of the gallbladder, Tracheoesophageal...	ORPHA:887
Hereditary Hemorrhagic Telangiectasia	Intestinal polyposis, Gastrointestinal hemorrhage, Portal hypertension, Esophageal varix, Cholecy...	ORPHA:774
Colonic Atresia	Peptic ulcer, Abnormal mesentery morphology, Duodenal stenosis, Abdominal situs inversus, Colonic...	ORPHA:1198
Combined Deficiency Of Factor V And Factor Viii	Gastrointestinal hemorrhage, Hyperlipidemia, Hyperuricemia	ORPHA:35909
Genitopalatocardiac Syndrome	Abnormal mesentery morphology, Abnormality of the gallbladder, Cleft palate	ORPHA:2075
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Hepatomegaly, Hyperlipidemia, High palate, Hypercholesterolemia	OMIM:248370
Systemic Sclerosis	Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus...	ORPHA:90291
Agammaglobulinemia 4, Autosomal Recessive	Protein-losing enteropathy	OMIM:613502
Glycogen Storage Disease Ic	Hepatomegaly, Stomatitis, Chronic pancreatitis, Hyperlipidemia, Xanthelasma, Inflammation of the ...	OMIM:232240
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Hypercalcemia, High, narrow palate, Gastroesophageal reflux, Abnormal gastr...	ORPHA:369837
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Splenomegaly, Pancreatic lymphangiectasis, Hepatosplenomegaly, High palate, Hypocal...	ORPHA:1655
Megalocornea-Intellectual Disability Syndrome	Hypercholesterolemia, High palate	ORPHA:2479
Juvenile Polyposis Syndrome	Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Protein...	ORPHA:2929
Metachromatic Leukodystrophy	Bowel incontinence, Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal gallbladde...	ORPHA:512
Juvenile Polyposis Of Infancy	Gastrointestinal hemorrhage, High, narrow palate, Rectal prolapse, Adenomatous colonic polyposis,...	ORPHA:79076
Classical-Like Ehlers-Danlos Syndrome Type 2	Long uvula, High palate, Narrow palate, Hypertriglyceridemia	ORPHA:536532
Mandibuloacral Dysplasia Progeroid Syndrome	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated hemoglobin A1c, High ...	OMIM:619127
Fucosidosis	Hepatomegaly, Abnormality of the gallbladder	ORPHA:349
Cog8-Cdg	Elevated hepatic transaminase, Protein-losing enteropathy	ORPHA:95428
Pearson Marrow-Pancreas Syndrome	Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Pancreatic fibrosis, Malabsorption,...	OMIM:557000
Visceral Myopathy 1	Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Pancreatitis, Diarrhea, Vomi...	OMIM:155310
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia, Annular pancreas, Tr...	ORPHA:210122
Lipodystrophy, Familial Partial, Type 7	Hypertriglyceridemia, Diarrhea, Recurrent pancreatitis, Vomiting, Dysphagia, Hypercholesterolemia	OMIM:606721
Familial Multiple Lipomatosis	Hyperlipidemia, Functional intestinal obstruction	ORPHA:199276
19P13.12 Microdeletion Syndrome	Hyperlipidemia, Hepatic steatosis, Cleft palate	ORPHA:254346
Cat Eye Syndrome	Anal stenosis, Intestinal malrotation, Rectal fistula, Rectal atresia, Biliary atresia, Cleft pal...	OMIM:115470
Inflammatory Skin And Bowel Disease, Neonatal, 1	Villous atrophy, Duodenitis, Bloody diarrhea	OMIM:614328
Trichohepatoenteric Syndrome 1	Intractable diarrhea, Hepatomegaly, Villous atrophy, Abnormality of the pancreas, Splenomegaly, J...	OMIM:222470
Triosephosphate Isomerase Deficiency	Splenomegaly, Jaundice, Cholecystitis, Prolonged neonatal jaundice, Cholelithiasis	OMIM:615512
Proteasome-Associated Autoinflammatory Syndrome 1	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertrigly...	OMIM:256040
Mungan Syndrome	Barrett esophagus, Gastroparesis, Intestinal pseudo-obstruction, Hypoperistalsis, Megaduodenum	OMIM:611376
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Viral hepatitis, Liver abscess, Cholangitis, Celiac disease, Cholecystitis	ORPHA:183675
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Paradoxical increased cortisol secretion on dexamethasone suppression test, Hyperlipidemia, Incre...	ORPHA:189427
Trigonocephaly 1	High, narrow palate, Meckel diverticulum	OMIM:190440
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hyperlipidemia, Elevated circulating creatinine concentration, Diarrhea, Increased blood urea nit...	OMIM:235400
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Meckel diverticulum, Dysphagia	ORPHA:163961
Aapoaiv Amyloidosis	Abnormality of the gastrointestinal tract, Hyperlipidemia, Elevated circulating creatinine concen...	ORPHA:439232
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Hyperlipidemia, P...	ORPHA:565612
Liver Disease, Severe Congenital	Chronic gastritis, Biliary hyperplasia, Protein-losing enteropathy, Hypocalcemia, Vomiting, Eleva...	OMIM:619991
Metachromatic Leukodystrophy, Adult Form	Cholecystitis, Bowel incontinence, Neoplasm of the gallbladder	ORPHA:309271
Immunodeficiency 31C	Hepatomegaly, Villous atrophy, Splenomegaly, Diarrhea, Gastrointestinal eosinophilia, Protein-los...	OMIM:614162
Q Fever	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatitis, Hepatosplenomegaly, Abnorma...	ORPHA:781
Smith-Lemli-Opitz Syndrome	Aganglionic megacolon, Pyloric stenosis, Abnormality of the gallbladder, Cleft palate, Gastroesop...	ORPHA:818
Schimke Immuno-Osseous Dysplasia	Hyperlipidemia, Abnormal intestine morphology, Pancreatitis	ORPHA:1830
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatomegaly, Cleft palate, Hepatosplenomegaly, Chronic constipation, Cholecystitis, Cholelithiasis	OMIM:301066
Syndromic Diarrhea	Hepatomegaly, Villous atrophy, Gastritis, Splenomegaly, Bloody diarrhea, Abnormality of the liver...	ORPHA:84064
Acrocephalopolydactylous Dysplasia	Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Hypoplasia of the small intestine, Hepatic ...	OMIM:200995
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Chronic diarrhea, Villous atrophy, Ileus, Hepatitis	OMIM:304790
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Rectal prolapse, Narrow palate, Protein-losing enteropathy, Hypoalbuminemia, Intestinal lymphangi...	OMIM:235510
Metachromatic Leukodystrophy, Late Infantile Form	Cholecystitis	ORPHA:309256
Listeriosis	Liver abscess, Jaundice, Peritonitis, Diarrhea, Hepatic granulomatosis, Vomiting, Cholecystitis, ...	ORPHA:533
Metachromatic Leukodystrophy, Juvenile Form	Cholecystitis	ORPHA:309263
Hennekam Lymphangiectasia-Lymphedema Syndrome 3	Protein-losing enteropathy	OMIM:618154
Mandibuloacral Dysplasia With Type B Lipodystrophy	Hyperlipidemia, High palate	OMIM:608612
Aromatase Deficiency	Hyperlipidemia, Hepatic steatosis	ORPHA:91
Biliary, Renal, Neurologic, And Skeletal Syndrome	Conjugated hyperbilirubinemia, Gastroesophageal reflux, Hypoalbuminemia, Hepatic fibrosis, Intrah...	OMIM:619534
Microvillus Inclusion Disease	Villous atrophy, Abnormal small intestinal villus morphology, Diarrhea	ORPHA:2290
Atypical Werner Syndrome	Hypertriglyceridemia, Hepatic steatosis, Neoplasm of the small intestine	ORPHA:79474
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Hyperlipidemia	ORPHA:90154
Shwachman-Diamond Syndrome	Abnormality of the gastrointestinal tract, Hepatomegaly, Elevated hepatic transaminase, Hypoamyla...	ORPHA:811
Mandibuloacral Dysplasia With Type A Lipodystrophy	Hyperlipidemia, High palate	ORPHA:90153
Dextrocardia	Meckel diverticulum, Intestinal malrotation, Abnormality of the spleen, Abnormality of abdominal ...	ORPHA:1666
Crimean-Congo Hemorrhagic Fever	Hepatomegaly, Acute pancreatitis, Elevated circulating creatine kinase concentration, Hematemesis...	ORPHA:99827
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Retroperitoneal fibrosis, Abnormal mesente...	ORPHA:449395
Zygomycosis	Gastrointestinal hemorrhage, Gastritis, Nausea, Hematemesis, Peritonitis, Diarrhea, Enterocolitis...	ORPHA:73263
Tarp Syndrome	Cleft palate, Tongue nodules, Glossoptosis, High palate, Hepatic failure, Meckel diverticulum	OMIM:311900
Steinert Myotonic Dystrophy	Elevated hepatic transaminase, Intestinal pseudo-obstruction, Oral-pharyngeal dysphagia, Abnormal...	ORPHA:273
Kawasaki Disease	Jaundice, Diarrhea, Hepatitis, Cholecystitis, Glossitis	ORPHA:2331
Immunodeficiency 82 With Systemic Inflammation	Villous atrophy, Duodenal ulcer, Gastritis, Elevated circulating C-reactive protein concentration...	OMIM:619381
Trichothiodystrophy 3, Photosensitive	Pyloric stenosis, Meckel diverticulum	OMIM:616395
Homozygous Familial Hypercholesterolemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia, Hepatic steatosis	ORPHA:391665
Scedosporiosis	Abnormal jejunum morphology	ORPHA:449280
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hyperlipidemia, Hypoalbuminemia	ORPHA:567546
Musculocontractural Ehlers-Danlos Syndrome	Abnormal mesentery morphology, Malrotation of small bowel, Cleft palate, High palate, Constipation	ORPHA:2953
Matthew-Wood Syndrome	Annular pancreas, Abnormal spleen morphology, Aplasia/Hypoplasia of the pancreas, Duodenal stenosis	ORPHA:2470
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Hypoammonemia, Malabsorption, Narrow palate, Hypokalemia, Hyperaldosteronism, Gastr...	ORPHA:534
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia, Dysphagia	OMIM:264090
Pericardial And Diaphragmatic Defect	Meckel diverticulum, Intestinal malrotation, Abnormal gastrointestinal tract morphology	ORPHA:2847
Wolf-Hirschhorn Syndrome	Abnormality of the gallbladder, Abdominal situs inversus, Cleft palate	ORPHA:280
Wiedemann-Rautenstrauch Syndrome	Submucous cleft soft palate, Hypertriglyceridemia, Hepatic steatosis	ORPHA:3455
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Intestinal malrotation, Asplenia, Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Co...	OMIM:265380
Serkal Syndrome	Malrotation of small bowel	ORPHA:139466
Lowe Oculocerebrorenal Syndrome	Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Bi...	OMIM:309000
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Elevated hepatic transaminase, Celiac disease, Gastrointestinal dysmotility, Hyperl...	ORPHA:293987
Trisomy 8P	Malrotation of small bowel, Cleft palate, Constipation, Aplasia/Hypoplasia of the gallbladder, An...	ORPHA:264450
Alström Syndrome	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Portal hypertension, Splenomeg...	ORPHA:64
Fryns Syndrome	Ectopic pancreatic tissue, Aganglionic megacolon, Intestinal malrotation, Esophageal atresia, Cle...	OMIM:229850
Fabry Disease	Achalasia, Abnormal circulating lipid concentration, Hyperlipidemia, Malabsorption	ORPHA:324
Whim Syndrome	Abnormal small intestine morphology, Parotitis	ORPHA:51636
Congenital Tracheal Stenosis	Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A...	ORPHA:141127
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Villous atrophy, Diarrhea, Esophageal carcinoma, Enterocolitis, Hepatitis, Hepatosplenomegaly, Ab...	ORPHA:391487
Tarp Syndrome	Glossoptosis, Tongue nodules, Cleft palate, Abnormal duodenum morphology	ORPHA:2886
Fanconi Anemia	Aganglionic megacolon, Aplasia/Hypoplasia of the uvula, Tracheoesophageal fistula, Cleft palate, ...	ORPHA:84
Woodhouse-Sakati Syndrome	Hyperlipidemia	OMIM:241080
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Intestinal malrotation, Hiatus hernia, Cleft palate, High palate, Constipation, Abnormal duodenum...	OMIM:601776
Fraser Syndrome 1	Abnormal small intestine morphology, Cleft palate, Abnormality of the anus	OMIM:219000
Thrombocytopenia-Absent Radius Syndrome	Pancreatic cysts, Meckel diverticulum, Cleft palate, Hepatosplenomegaly	OMIM:274000
Woodhouse-Sakati Syndrome	Hyperlipidemia	ORPHA:3464
Wolf-Hirschhorn Syndrome	Accessory spleen, Malrotation of small bowel, Biliary tract abnormality, Cleft palate, Gastroesop...	OMIM:194190
Mosaic Trisomy 16	Anteriorly placed anus, Abnormality of the gastrointestinal tract, Meckel diverticulum	ORPHA:1708
Simpson-Golabi-Behmel Syndrome, Type 1	Exaggerated median tongue furrow, Hepatomegaly, Intestinal malrotation, Splenomegaly, Cleft palat...	OMIM:312870
Viss Syndrome	Chronic gastritis, Duodenitis, Intestinal malrotation, Cleft soft palate, Submucous cleft soft pa...	OMIM:619472
Autosomal Recessive Cutis Laxa Type 1	Pyloric stenosis, Small bowel diverticula	ORPHA:90349
Autosomal Dominant Cutis Laxa	Vomiting, Small bowel diverticula	ORPHA:90348
Genitopatellar Syndrome	Anal stenosis, Malrotation of small bowel, Anteriorly placed anus, Dysphagia, Anal atresia	OMIM:606170

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Soat2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Soat2.

No publications found that use IMPC mice or data for Soat2.

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MGI Allele	Allele Type	Produced
Soat2^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Soat2^{tm81488(L1L2_gt0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Soat2^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Soat2^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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