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

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

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 Similarity of
phenotypes
Matching phenotypes Source
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hepatomegaly, Hypertriglyceridemia, Elevated hepatic transaminase OMIM:306000
Glycogen Storage Disease Vi
Hepatomegaly, Hyperlipidemia, Increased hepatic glycogen content, Hypercholesterolemia, Hypertrig... OMIM:232700
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Hypertriglyceridemia, Elevated h... OMIM:614480
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Hypertriglyceridemia, Splenomegaly OMIM:619175
Atherosclerosis Susceptibility
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:108725
Cholesteryl Ester Storage Disease
Hepatomegaly, Esophageal varix, Splenomegaly, Hypercholesterolemia, Cirrhosis, Hypertriglyceridem... ORPHA:75234
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... ORPHA:79506
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hypercholesterolemia, Cirrhosis, Hyp... OMIM:605814
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Acholic stools, Hypocholesterolemia, Hyperbilirubinemia, Sple... OMIM:607765
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Hyperlipidemia, Vomiting, Hypercholesterolemia, Hypoalbuminemia, Diarrhea, Prote... OMIM:615863
Lipodystrophy, Familial Partial, Type 5
Abnormal circulating lipid concentration, Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis OMIM:615238
Hyperlipoproteinemia, Type Ii, And Deafness
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:144300
Chylomicron Retention Disease
Vomiting, Hypocholesterolemia, Hypotriglyceridemia, Steatorrhea, Hypoalbuminemia, Decreased LDL c... OMIM:246700
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypercholestero... OMIM:615703
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Decreased circulating ceruloplasmin concentration, Hyper... OMIM:616829
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Fish-Eye Disease
Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration, Decreased HDL ... OMIM:136120
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:610947
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Niemann-Pick Disease, Type B
Hepatomegaly, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, S... OMIM:607616
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis, Hypertriglyceridemia ORPHA:436182
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis, Hypertriglyceridemia OMIM:613877
Lipase Deficiency, Combined
Pancreatitis, Hypertriglyceridemia OMIM:246650
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Hyperlipidemia, Malabsorption, Splenomegaly, Cirrhosis, Neonatal cholestatic liver ... OMIM:214900
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Elevated circulating creatine kinase concentration, Hepatic steatosis, Hypertriglyc... OMIM:610717
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Splenomegaly, Hypercholesterolemia, Hepatic steatosis, Hepatosplenomegaly, Hypertri... OMIM:612526
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Ballooning hepatocyte degeneration, Hepatocellular carcinoma, Pancreatitis, Hyp... OMIM:603471
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Hepatomegaly, Hypersplenism, Splenomegaly OMIM:610539
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hepatosplenomegaly, Hypertriglyceridemia OMIM:608898
Chylomicron Retention Disease
Vomiting, Hypocholesterolemia, Increased hepatocellular lipid droplets, Hepatic steatosis, Steato... ORPHA:71
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hypertriglyceridemia OMIM:615924
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hypertriglyceridemia, Hepatic failure OMIM:177000
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Elevated hepatic transaminase, Increased LDL cholesterol concentration, Elevated ci... OMIM:616828
Glycosylphosphatidylinositol Biosynthesis Defect 17
High palate, Hypertriglyceridemia OMIM:618010
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Decreased c... OMIM:207750
Lysosomal Acid Lipase Deficiency
Esophageal varix, Splenomegaly, Hepatosplenomegaly, Hypersplenism, Steatorrhea, Portal hypertensi... OMIM:278000
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... OMIM:616516
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Acute hepatic steatosis, Hepatitis, Hypercholesterolemia... ORPHA:209902
Peroxisome Biogenesis Disorder 3B
Hypocholesterolemia, Hepatomegaly, Steatorrhea OMIM:266510
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Inflammation of the large intestine, Hepatitis, Splenomegaly, Increased circulating... OMIM:300635
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Hepatic fibrosis, Esophageal varix, Bile duct proliferation, Hypercholesterolemia, ... OMIM:619662
Low Phospholipid-Associated Cholelithiasis
Cholangitis, Hepatocellular carcinoma, Sclerosing cholangitis, Biliary tract obstruction, Choleli... ORPHA:69663
Hypertriglyceridemia 1
Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:145750
Hyperlipoproteinemia, Type Iv
Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:144600
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia, J... OMIM:603552
Hyperlipoproteinemia, Type I
Hyperlipidemia, Vomiting, Nausea, Pancreatitis, Lactescent serum, Splenomegaly, Hypercholesterole... OMIM:238600
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Glycogen Storage Disease Ixc
Hepatomegaly, Increased hepatic glycogen content, Bile duct proliferation, Splenomegaly, Cirrhosi... OMIM:613027
Plin1-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hypertriglyceridemia, Hepatic fibrosis ORPHA:280356
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia, Constipation OMIM:301033
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomegaly, Hypertriglyceride... OMIM:613101
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... OMIM:144250
Congenital Short Bowel Syndrome
Vomiting, Congenital shortened small intestine, Abnormal peristalsis, Intestinal malrotation, Chr... OMIM:615237
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Hypocholesterolemia, Decreased LDL cholesterol concentration OMIM:616834
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:245900
Ataxia With Vitamin E Deficiency
Hypercholesterolemia, Xanthelasma, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:277460
Secondary Short Bowel Syndrome
Aganglionic megacolon, Villous atrophy, Abnormality of the small intestine, Vomiting, Volvulus, M... ORPHA:95427
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia OMIM:608600
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Pancreatitis, Hypertriglyceridemia OMIM:606721
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Portal fibrosis, Vomiting, Hepatic fibrosis, Hepatocellular carcinoma, Esophageal v... ORPHA:370
Pancreatic Lipase Deficiency
Hypolipidemia, Steatorrhea, Fat malabsorption OMIM:614338
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Villous atrophy, Hepatic fibrosis, Vomiting, Cirrhosis, Hepatic failure, Hypoalbumi... OMIM:602579
Temple Syndrome
High palate, Cleft palate, Bifid uvula, Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Hyperlipidemia, Acholic stools, Biliary tract abnormality, Splenomegaly, Cirrhosis,... ORPHA:1414
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia, Hepatic steatosis ORPHA:79085
Bile Acid Malabsorption, Primary, 1
Chronic diarrhea, Steatorrhea, Increased fecal bile acid, Fat malabsorption OMIM:613291
Citrullinemia Type Ii
Hepatomegaly, Hypoproteinemia, Decreased HDL cholesterol concentration, Hepatic fibrosis, Vomitin... ORPHA:247585
Pancreatic Colipase Deficiency
Cholelithiasis, Chronic diarrhea, Steatorrhea, Exocrine pancreatic insufficiency, Fat malabsorption ORPHA:309108
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia ORPHA:71529
Alpha-Heavy Chain Disease
Hepatomegaly, Abnormality of the small intestine, Malabsorption, Splenomegaly, Hypocalcemia ORPHA:100025
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Bile Acid Synthesis Defect, Congenital, 4
Hepatomegaly, Giant cell hepatitis, Elevated hepatic transaminase, Hyperbilirubinemia, Hepatic fa... OMIM:214950
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Villous atrophy, Hepatic fibrosis, Hyperlipidemia, Abnormal circulating fatty-acid ... ORPHA:567983
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatomegaly, Hepatic fibrosis, Portal fibrosis, Hyperlipidemia, Increased hepatic glycogen conte... ORPHA:369
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Portal fibrosis, Vomiting, Nausea, Hepatic fibrosis, Esophageal varix, Elevated cir... ORPHA:264580
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Hyperlipidemia, Pancreatitis, Hepatic steatosis, Hypertriglyceridemia ORPHA:435651
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatic steatosis, Hepatosplenomegaly, Hypertriglyceridemia, Hypoalbuminemia, Elevated hepatic tr... OMIM:619013
Secondary Intestinal Lymphangiectasia
Hypoalbuminemia, Decreased prealbumin level, Vomiting, Celiac disease, Hypocholesterolemia, Incre... ORPHA:90363
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Hyperammonemia, Gastrointestinal hemorrhage, Hepatosplenomegaly, Hyperthreonin... ORPHA:247598
Congenital Bile Acid Synthesis Defect Type 3
Bile duct proliferation, Hyperbilirubinemia, Cirrhosis, Elevated circulating aspartate aminotrans... ORPHA:79302
Somatostatinoma
Hepatomegaly, Hypercalcemia, Gallbladder dysfunction, Increased circulating cortisol level, Neopl... ORPHA:97283
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hepatocellular carcinoma, Hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concen... ORPHA:158057
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Hyperuricemia, Cirrhosis, Hepatic steatosis, Hypertrigly... OMIM:604367
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Cirrhosis, Conjugated hyperbilirubinemia, I... OMIM:601847
Familial Chylomicronemia Syndrome
Hyperlipidemia, Recurrent pancreatitis, Hepatic steatosis, Hepatosplenomegaly, Perianal abscess, ... ORPHA:444490
Dubin-Johnson Syndrome
Biliary tract abnormality, Conjugated hyperbilirubinemia, Jaundice OMIM:237500
Budd-Chiari Syndrome
Hepatomegaly, Gastrointestinal infarctions, Esophageal varix, Peritonitis, Malabsorption, Splenom... ORPHA:131
Mpi-Cdg
Portal hypertension, Hepatomegaly, Hepatic fibrosis, Vomiting, Decreased liver function, Gastroin... ORPHA:79319
Mitchell-Riley Syndrome
Pancreatic hypoplasia, Duodenal atresia, Acholic stools, Annular pancreas, Malabsorption, Intesti... OMIM:615710
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration ORPHA:488650
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Hepatic fibrosis, Vomiting, Nausea, Hepatocellular carcinoma, Elevated circulating ... ORPHA:79240
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia ORPHA:363400
Disorder Of Bile Acid Synthesis
Abnormality of the liver, Cholestasis, Elevated hepatic transaminase, Biliary tract abnormality, ... ORPHA:79168
Congenital Tufting Enteropathy
Villous atrophy, Vomiting, Malabsorption, Cholestatic liver disease, Chronic diarrhea, Abnormal s... ORPHA:92050
Glycogen Storage Disease Iii
Hepatomegaly, Hepatic fibrosis, Hyperlipidemia, Elevated circulating creatine kinase concentratio... OMIM:232400
Congenital Generalized Lipodystrophy
Hepatomegaly, Macroglossia, Hypercholesterolemia, Hepatic steatosis, Cirrhosis, Hypertriglyceride... ORPHA:528
Dysbetalipoproteinemia
Hepatomegaly, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, H... ORPHA:412
Analbuminemia
Hypercholesterolemia, Elevated circulating transferrin concentration, Increased LDL cholesterol c... OMIM:616000
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Hyperlipidemia, Elevated circulating creatine kinase concentration, Hepatic steatos... ORPHA:435660
Macrophage Activation Syndrome
Hepatomegaly, Hepatitis, Splenomegaly, Decreased liver function, Elevated circulating aspartate a... ORPHA:158061
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jau... OMIM:211600
Idiopathic Steroid-Resistant Nephrotic Syndrome
Peritonitis, Abnormal circulating lipid concentration, Hypercholesterolemia, Hypertriglyceridemia... ORPHA:567548
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia OMIM:615381
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Squalene Synthase Deficiency
Hypocholesterolemia, Increased circulating farnesol concentration, Elevated circulating methylsuc... OMIM:618156
Peutz-Jeghers Syndrome
Rectal prolapse, Abnormality of the gallbladder, Stomach cancer, Vomiting, Gastrointestinal infar... ORPHA:2869
Congenital Bile Acid Synthesis Defect Type 2
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Abnormal serum bil... ORPHA:79303
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Hypertriglyceridemia, Splenomegaly OMIM:618398
Glycerol Kinase Deficiency
Hypertriglyceridemia, Episodic vomiting OMIM:307030
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia, Hepatomegaly OMIM:618810
Hypercholesterolemia, Familial, 3
Hypercholesterolemia, Xanthelasma, Abnormal LDL cholesterol concentration OMIM:603776
Potocki-Lupski Syndrome
Oral-pharyngeal dysphagia, Hypocholesterolemia, High palate, Gastroesophageal reflux OMIM:610883
Inflammatory Bowel Disease (Crohn Disease) 30
Bloody diarrhea, Abnormal intestine morphology, Vomiting, Esophagitis, Duodenitis, Chronic diarrh... OMIM:619079
Alg6-Cdg
Macroglossia, Abnormality of the liver, Hypoalbuminemia, Decreased LDL cholesterol concentration,... ORPHA:79320
Fanconi-Bickel Syndrome
Hepatomegaly, Hepatocellular carcinoma, Increased hepatic glycogen content, Abnormal hepatic glyc... ORPHA:2088
Cog4-Cdg
Recurrent infection of the gastrointestinal tract, Fatal liver failure in infancy, Intermittent d... ORPHA:263501
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Hyponatremia, Decreased HDL cholesterol concentration, Hypoproteinemia, Increased L... OMIM:267700
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Splenomegaly, Decreased liver function, Cholestatic liver disease, Increased circul... ORPHA:540
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Vomiting, Decreased liver function, Cholestasis, Hypoalbuminemia, Diarrhea, Protein... OMIM:608104
Gallbladder Disease 1
Cholangitis, Hepatic fibrosis, Cholelithiasis, Pancreatitis, Cholesterol gallstones, Cholecystiti... OMIM:600803
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Hyperbilirubinemia, Cholelithiasis, Splenomegaly, Cholecystitis, Jaundice OMIM:235700
Pyruvate Kinase Deficiency Of Red Cells
Unconjugated hyperbilirubinemia, Cholelithiasis, Splenomegaly, Cholecystitis, Jaundice OMIM:266200
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Acholic stools, Hepatitis, Splenomegaly, Cirrhosis, Steatorrhea, Hepatic failure, E... OMIM:613812
Biliary Atresia, Extrahepatic
Hepatomegaly, Unconjugated hyperbilirubinemia, Portal fibrosis, Acholic stools, Atretic gallbladd... OMIM:210500
Hypercholesterolemia, Familial, 2
Hypercholesterolemia, Xanthelasma, Increased LDL cholesterol concentration OMIM:144010
Chronic Diarrhea Due To Glucoamylase Deficiency
Vomiting, Nausea, Malabsorption, Chronic diarrhea, Abnormal small intestinal mucosa morphology, D... ORPHA:103907
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated hepatic transaminase, Hyperlipidemia, Abnormality of the gastrointestinal tract ORPHA:2089
Smith-Magenis Syndrome
Hypercholesterolemia, Velopharyngeal insufficiency, Hypertriglyceridemia, Constipation OMIM:182290
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia, Small bowel diverticula, Jejunoileal ulceration, Fat malabsorption OMIM:221400
Hypercholanemia, Familial 1
Increased serum bile acid concentration, Steatorrhea, Fat malabsorption OMIM:607748
Abdominal Obesity-Metabolic Syndrome 4
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:618620
Lcat Deficiency
Decreased circulating apolipoprotein AI concentration, Decreased HDL cholesterol concentration, H... ORPHA:650
Eosinophilic Gastroenteritis
Hypoalbuminemia, Dysphagia, Elevated circulating C-reactive protein concentration, Vomiting, Mala... ORPHA:2070
Sitosterolemia 1
Elevated circulating sitosterol concentration, Splenomegaly, Hypercholesterolemia, Abnormality of... OMIM:210250
Lipodystrophy, Congenital Generalized, Type 4
Pyloric stenosis, Hepatomegaly, Dysphagia, Elevated circulating creatine kinase concentration, Sp... OMIM:613327
Trichohepatoenteric Syndrome 2
Hepatomegaly, Villous atrophy, Colitis, Hepatitis, Decreased serum iron, Cirrhosis, Diarrhea OMIM:614602
Abetalipoproteinemia
Hepatomegaly, Decreased HDL cholesterol concentration, Hepatic fibrosis, Vomiting, Hypocholestero... ORPHA:14
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia ORPHA:181393
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Hepatic fibrosis, Vomiting, Hypocholesterolemia, Hepatic steatosis, Hypoalbuminemia... OMIM:212065
Maternal Uniparental Disomy Of Chromosome 4
Hypocholesterolemia, Elevated circulating creatine kinase concentration, Abetalipoproteinemia, De... ORPHA:96180
Protoporphyria, Erythropoietic, X-Linked
Elevated hepatic transaminase, Increased erythrocyte protoporphyrin concentration, Cholelithiasis OMIM:300752
Lysosomal Acid Lipase Deficiency
Hyperkalemia, Microvesicular hepatic steatosis, Hyponatremia, Hepatic fibrosis, Vomiting, Esophag... ORPHA:275761
Galactokinase Deficiency
Hepatomegaly, Hypergalactosemia, Hypercholesterolemia, Hepatosplenomegaly, Increased level of gal... ORPHA:79237
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Hyperammonemia, Hepatic steatos... OMIM:255120
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Pancreatitis, Splenomegaly, Cirrhosis, Hepatic steatosis, Hyperuricemia, Hypertrigl... ORPHA:79083
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, Hy... ORPHA:103910
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Pancreatitis, Splenomegaly, Hepatic steatosis, Hypertriglyceridemia ORPHA:2348
Refractory Celiac Disease
Jejunitis, Hypoproteinemia, Villous atrophy, Hypophosphatemia, Malabsorption, Hypocalcemia, Chron... ORPHA:398063
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Increased total iron binding capacity, Hyperbili... OMIM:616278
Proprotein Convertase 1/3 Deficiency
Diarrhea, Villous atrophy, Malabsorption, Decreased circulating cortisol level OMIM:600955
Isolated Biliary Atresia
Hepatomegaly, Acholic stools, Elevated hepatic transaminase, Atretic gallbladder, Bile duct proli... ORPHA:30391
Alg1-Cdg
Chronic diarrhea, Decreased liver function, Abnormality of the gastrointestinal tract, Hypoalbumi... ORPHA:79327
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, Diarrhea, Hypertriglyceridemia, Hypoplastic spleen OMIM:619313
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia, High palate ORPHA:254531
Neutral Lipid Storage Disease With Ichthyosis
Hepatomegaly, Abnormal circulating creatine kinase concentration, Micronodular cirrhosis, Hepatic... ORPHA:98907
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatomegaly, Hyponatremia, Hypoproteinemia, Increased total bilirubin, Splenomegaly, Increased c... OMIM:603553
Acquired Generalized Lipodystrophy
Hepatomegaly, Abnormal circulating lipid concentration, Cirrhosis, Hepatic steatosis, Acute pancr... ORPHA:79086
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia ORPHA:364
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypocalcemia, Hypomagnesemia, Hypertriglyceridemia, Hypoalbuminemia, Secretory diar... OMIM:618183
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Protein-losing enteropathy, Hyperglycinemia OMIM:619063
Visceral Myopathy 2
Dysphagia, Rectal prolapse, Megaduodenum, Intestinal pseudo-obstruction, Esophagitis, Volvulus, G... OMIM:619350
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Villous atrophy, Portal fibrosis, Hepatic fibrosis, Ileoileal i... OMIM:619377
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Decreased HDL cholesterol concentration, Hypercholesterolemia, Hepatic steatosis, A... OMIM:151660
Metachromatic Leukodystrophy
Gallbladder dysfunction, Cholecystitis OMIM:250100
Mucocutaneous Ulceration, Chronic
Ileitis OMIM:618287
Tangier Disease
Hypocholesterolemia, Hepatosplenomegaly, Hypertriglyceridemia ORPHA:31150
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia OMIM:617885
Gaisböck Syndrome
Hyperproteinemia, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Cholecystitis, Incre... ORPHA:90041
Mandibuloacral Dysplasia
High palate, Increased circulating free fatty acid level, Hypercholesterolemia, Abnormal tongue m... ORPHA:2457
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Microvesicular hepatic steatosis, Hepatomegaly, High palate, Vomiting, Macronodular cirrhosis, Sp... OMIM:619418
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Mildly elevated creatine kinase, Hyperlipidemia OMIM:604484
Acth Deficiency, Isolated
Jaundice, Cholestasis, Decreased circulating cortisol level OMIM:201400
Griscelli Syndrome Type 2
Jaundice, Hepatomegaly, Hyperlipidemia, Splenomegaly ORPHA:79477
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Vomiting, Microvillus inclusions, Microvillar PAS-positive secretory granules, S... OMIM:619445
Carnitine Palmitoyl Transferase 1A Deficiency
Elevated hepatic transaminase, Transient hyperlipidemia, Hepatomegaly, Hepatic failure ORPHA:156
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Villous atrophy, Splenomegaly, Increased circulating ferritin concentration, Ent... OMIM:616050
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Portal fibrosis, Bile duct proliferation, Malabsorption, Splenomegaly, Cirrhosis, E... OMIM:602347
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Vomiting, Hypokalemia, Xerostomia, Gastrointestinal carcinoma, Malabsorption, Hypomagnesemia, Ham... OMIM:175500
Alstrom Syndrome
Hepatomegaly, Chronic active hepatitis, Decreased HDL cholesterol concentration, Hyperuricemia, H... OMIM:203800
Mednik Syndrome
Intrahepatic cholestasis, Abnormal intestine morphology, Decreased circulating copper concentrati... ORPHA:171851
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly OMIM:617591
Diarrhea 2, With Microvillus Atrophy
Protracted diarrhea, Abnormal intestine morphology, Villous atrophy OMIM:251850
Lysinuric Protein Intolerance
Hyperglycinemia, Hyperammonemia, Increased circulating ferritin concentration, Hepatosplenomegaly... ORPHA:470
Nephrotic Syndrome, Type 14
Hypertriglyceridemia, Hypoalbuminemia OMIM:617575
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Decreased HDL cholesterol concentration, Hyperlipidemia, Increased LDL cholesterol ... ORPHA:77293
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Cleft palate, Villous atrophy, Elevated circulating C-reactive protein concentratio... OMIM:619573
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Immunodeficiency 47
Hepatomegaly, Hepatic fibrosis, Elevated hepatic transaminase, Splenomegaly, Chronic diarrhea, Hy... OMIM:300972
Neutral Lipid Storage Myopathy
Hepatomegaly, Abnormal circulating creatine kinase concentration, Hepatic steatosis, Chronic panc... ORPHA:98908
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Abnormality of the intrahepatic bile duct, Hypertriglyceridemia ORPHA:363618
Cholestasis, Benign Recurrent Intrahepatic, 2
Hepatomegaly, Cholelithiasis, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice OMIM:605479
Martinez-Frias Syndrome
Pancreatic hypoplasia, Duodenal atresia, Annular pancreas, Intestinal malrotation, Jejunal atresi... OMIM:601346
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Pyloric stenosis, High palate, Cleft palate, Bifid uvula, Hypercholesterolemia ORPHA:96184
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Inflammation of the large intestine, Hyperlipidemia, Increased hepatic glycogen con... ORPHA:79259
Nephrotic Syndrome, Type 11
Hypercholesterolemia, High palate, Cleft palate, Hypoalbuminemia OMIM:616730
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Pigment gallstones, Cholelithiasis, Splenomegaly, Cholecystitis, Jaundice OMIM:613470
Caroli Disease
Cholangitis, Hepatomegaly, Cholangiocarcinoma, Vomiting, Nausea, Hepatic fibrosis, Esophageal var... ORPHA:53035
Intrahepatic Cholestasis Of Pregnancy
Hyperbilirubinemia, Abnormality of the pancreas, Increased serum bile acid concentration, Cholecy... ORPHA:69665
Smith-Magenis Syndrome
Cleft palate, Hypercholesterolemia, Hypertriglyceridemia, Gastroesophageal reflux, Constipation ORPHA:819
Laron Syndrome
Hypercholesterolemia ORPHA:633
Seckel Syndrome 10
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Elevated circulat... OMIM:617253
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Dysphagia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Elevated alp... ORPHA:64753
Nephrotic Syndrome, Type 1
Pyloric stenosis, Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Gastroesophageal reflux OMIM:256300
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... ORPHA:98855
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Hyperproteinemia, Splenomegaly, Increased circulating ferritin concentration, Hyper... ORPHA:158048
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia OMIM:208920
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia ORPHA:66628
Alagille Syndrome 1
Hepatocellular carcinoma, Elevated hepatic transaminase, Hypercholesterolemia, Cirrhosis, Hypertr... OMIM:118450
Diarrhea 9
Diarrhea, Villous atrophy OMIM:618168
Erythrocytosis, Familial, 8
Jaundice, Cholelithiasis, Cholecystitis, Splenomegaly OMIM:222800
Gallbladder Neuroendocrine Tumor
Nausea, Biliary tract obstruction, Biliary tract neoplasm, Extrahepatic cholestasis, Cholecystiti... ORPHA:100086
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia OMIM:615812
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia ORPHA:179494
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Increased alpha-globulin ORPHA:86816
X-Linked Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... ORPHA:98853
Diarrhea 11, Malabsorptive, Congenital
Diarrhea, Villous atrophy OMIM:618662
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Hyperuricemia ORPHA:77296
Alg12-Cdg
Hyponatremia, Hypocholesterolemia, Intestinal malrotation, Hypoalbuminemia, Elevated hepatic tran... ORPHA:79324
Bare Lymphocyte Syndrome, Type Ii
Cholangitis, Villous atrophy, Biliary tract abnormality, Protracted diarrhea, Malabsorption, Vira... OMIM:209920
Abetalipoproteinemia
Abetalipoproteinemia, Fat malabsorption OMIM:200100
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatomegaly, Decreased HDL cholesterol concentration, Pancreatitis, Splenomegaly, Hepatic steato... ORPHA:280365
Triploidy
Hepatomegaly, Cleft palate, Abnormality of the gallbladder, Macroglossia, Intestinal malrotation,... ORPHA:3376
Primary Lipodystrophy
Hyperlipidemia, Pancreatitis, Splenomegaly, Cirrhosis, Hepatic steatosis ORPHA:90970
Kaufman Oculocerebrofacial Syndrome
Hypocholesterolemia, High palate, Intestinal malrotation, Constipation OMIM:244450
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Intractable diarrhea OMIM:613217
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Increased stool alpha1-antitrypsin concentration, Functional abnormality of the ... ORPHA:90362
Smith-Lemli-Opitz Syndrome
Pyloric stenosis, Cleft palate, Aganglionic megacolon, Vomiting, Elevated 7-dehydrocholesterol, H... OMIM:270400
Glycogen Storage Disease Xii
Jaundice, Cholelithiasis, Cholecystitis, Splenomegaly OMIM:611881
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic steatosis, Acute pancreatitis, Hypertriglyceridemi... OMIM:608594
H Syndrome
Hepatosplenomegaly, Malabsorption, Hypertriglyceridemia ORPHA:168569
Xp21 Deletion Syndrome
Elevated circulating creatine kinase concentration, Hypertriglyceridemia ORPHA:261476
Autosomal Recessive Polycystic Kidney Disease
Abnormality of the intrahepatic bile duct, Cholangitis, Cholangiocarcinoma, Esophageal varix, Spl... ORPHA:731
Vascular Hyalinosis
Diarrhea, Protein-losing enteropathy, Malabsorption, Hematochezia OMIM:277175
Microtriplication 11Q24.1
Cleft palate, Hyperlipidemia ORPHA:289522
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Pyloric stenosis, Vomiting, Intestinal pseudo-obstruction, Congenital shortened small intestine, ... OMIM:300048
Galloway-Mowat Syndrome 7
Hypercholesterolemia, High palate, Cleft palate OMIM:618348
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic steatosis, Acute pancreatitis, Hypertriglyceridemi... OMIM:269700
Primary Biliary Cholangitis
Abnormality of the intrahepatic bile duct, Hepatic fibrosis, Hepatocellular carcinoma, Celiac dis... ORPHA:186
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Glycogen Storage Disease Ia
Hepatomegaly, Hyperlipidemia, Hepatocellular carcinoma, Pancreatitis, Hyperuricemia, Intermittent... OMIM:232200
Mirizzi Syndrome
Gallbladder perforation, Vomiting, Nausea, Cholelithiasis, Pancreatitis, Hyperbilirubinemia, Chol... ORPHA:521219
Methanol Poisoning
Vomiting, Diarrhea, Hyperlipidemia ORPHA:31825
Immunodeficiency 31C
Abnormal intestine morphology, Diarrhea, Villous atrophy OMIM:614162
Isolated Thyroid-Stimulating Hormone Deficiency
Neonatal hyperbilirubinemia, Macroglossia, Abnormal circulating thyroglobulin level, Hypercholest... ORPHA:90674
Rett Syndrome
Hyperammonemia, Increased serum pyruvate, Cholecystitis ORPHA:778
Megalocornea-Mental Retardation Syndrome
Hypercholesterolemia, Dysphagia, High palate, Bifid uvula OMIM:249310
Thoraco-Abdominal Enteric Duplication
Hepatomegaly, Intestinal malrotation, Duodenal stenosis ORPHA:1759
X-Linked Lymphoproliferative Disease
Inflammation of the large intestine, Hepatic necrosis, Fulminant hepatitis, Splenomegaly, Decreas... ORPHA:2442
Annular Pancreas
High intestinal obstruction, Duodenal stenosis, Annular pancreas ORPHA:675
Pancreas, Annular
High intestinal obstruction, Duodenal stenosis, Annular pancreas OMIM:167750
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Hypoproteinemia, Cleft palate, High palate, Splenomegaly, Pancreatic lymphangiectas... OMIM:235255
Oculoskeletodental Syndrome
Hepatomegaly, Hypercalcemia, Macroglossia, Splenomegaly, Hypocalcemia, Protein-losing enteropathy OMIM:618440
Chédiak-Higashi Syndrome
Hyponatremia, Hypoproteinemia, Splenomegaly, Decreased liver function, Increased circulating ferr... ORPHA:167
Spherocytosis, Type 1
Jaundice, Hyperbilirubinemia, Cholelithiasis, Splenomegaly OMIM:182900
Glycogen Storage Disease Ib
Hepatomegaly, Hepatocellular carcinoma, Hyperlipidemia, Pancreatitis, Hyperuricemia, Xanthelasma,... OMIM:232220
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia, Vomiting, Nausea ORPHA:90065
Bardet-Biedl Syndrome 20
Hypercholesterolemia, Pancreatitis, Elevated hepatic transaminase OMIM:619471
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Hepatic calcification, Decreased plasma free carnitine, Hyperlipidemia, Elevated ci... ORPHA:157
Vacterl/Vater Association
Cleft palate, Abnormality of the gallbladder, Anal atresia, Abnormality of the pancreas, Anorecta... ORPHA:887
Combined Deficiency Of Factor V And Factor Viii
Gastrointestinal hemorrhage, Hyperlipidemia, Hyperuricemia ORPHA:35909
Genitopalatocardiac Syndrome
Cleft palate, Abnormality of the gallbladder, Abnormality of mesentery morphology ORPHA:2075
Diverticulosis, Small-Intestinal
Duodenal diverticula, Jejunoileal diverticula, Ulcerative colitis, Jejunal diverticula OMIM:223320
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Hepatic calcification, High, narrow palate, Decreased plasma free carnitine, Hyperl... ORPHA:228308
Trichohepatoenteric Syndrome 1
Increased serum iron, Hepatomegaly, Abnormality of iron homeostasis, Villous atrophy, Hepatic fib... OMIM:222470
Systemic Sclerosis
Dysphagia, Abnormality of the small intestine, Abnormal large intestine morphology, Elevated circ... ORPHA:90291
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
High, narrow palate, Hypercalcemia, Morphological abnormality of the gastrointestinal tract, Hype... ORPHA:369837
Hereditary Hemorrhagic Telangiectasia
Esophageal varix, Cholelithiasis, Cirrhosis, Gastrointestinal hemorrhage, Intestinal polyposis, H... ORPHA:774
Scleroderma
Abnormality of the small intestine, Abnormal large intestine morphology, Elevated circulating cre... ORPHA:801
Colonic Atresia
Abdominal situs inversus, Abnormality of mesentery morphology, Duodenal stenosis, Colonic atresia... ORPHA:1198
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia, High palate ORPHA:2479
Juvenile Polyposis Syndrome
Neoplasm of the small intestine, Intussusception, Gastrointestinal hemorrhage, Diarrhea, Small in... ORPHA:2929
Metachromatic Leukodystrophy
Neoplasm of the gallbladder, Hemobilia, Abnormal gallbladder morphology, Abnormal stomach morphol... ORPHA:512
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Hypoproteinemia, High palate, Splenomegaly, Hepatosplenomegaly, Pancreatic lymphang... ORPHA:1655
Juvenile Polyposis Of Infancy
High, narrow palate, Rectal prolapse, Adenomatous colonic polyposis, Melena, Intussusception, Gas... ORPHA:79076
Glycogen Storage Disease Ic
Hepatomegaly, Hepatocellular carcinoma, Hyperlipidemia, Hepatoblastoma, Hyperuricemia, Xanthelasm... OMIM:232240
Classical-Like Ehlers-Danlos Syndrome Type 2
Long uvula, Narrow palate, High palate, Hypertriglyceridemia ORPHA:536532
Triosephosphate Isomerase Deficiency
Jaundice, Cholelithiasis, Cholecystitis, Splenomegaly OMIM:615512
Mandibuloacral Dysplasia Progeroid Syndrome
Hepatomegaly, High palate, Macrovesicular hepatic steatosis, Hypertriglyceridemia, Elevated hemog... OMIM:619127
Visceral Myopathy 1
Dysphagia, Aganglionic megacolon, Megaduodenum, Vomiting, Intestinal pseudo-obstruction, Gastropa... OMIM:155310
Fucosidosis
Hepatomegaly, Abnormality of the gallbladder ORPHA:349
Congenital Alveolar Capillary Dysplasia
Aganglionic megacolon, Duodenal stenosis, Asplenia, Annular pancreas, Volvulus, Intestinal malrot... ORPHA:210122
Cog8-Cdg
Elevated hepatic transaminase, Protein-losing enteropathy ORPHA:95428
Familial Multiple Lipomatosis
Functional intestinal obstruction, Hyperlipidemia ORPHA:199276
Autoinflammatory Syndrome, Familial, Behcet-Like
Colitis, Ileal ulcer OMIM:616744
19P13.12 Microdeletion Syndrome
Hepatic steatosis, Cleft palate, Hyperlipidemia ORPHA:254346
Congenital Disorder Of Glycosylation, Type Id
High palate, Villous atrophy, Vomiting, Bifid uvula, Diarrhea OMIM:601110
Trigonocephaly 1
Meckel diverticulum OMIM:190440
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Decreased HDL cholesterol concentration, Macroglossia, Splenomegaly, Parotitis, Hyp... OMIM:256040
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Hyperlipidemia, Increased circulating cortisol level, Paradoxical increased cortisol secretion on... ORPHA:189427
Inflammatory Skin And Bowel Disease, Neonatal, 1
Bloody diarrhea, Villous atrophy, Duodenitis OMIM:614328
Mungan Syndrome
Barrett esophagus, Megaduodenum, Hypoperistalsis, Intestinal pseudo-obstruction OMIM:611376
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Cholangitis, Celiac disease, Chronic gastritis, Cholecystitis, Viral hepatitis, Liver abscess ORPHA:183675
Syndromic Diarrhea
Hepatomegaly, Bloody diarrhea, Abnormality of iron homeostasis, Villous atrophy, Hepatic fibrosis... ORPHA:84064
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Meckel diverticulum OMIM:300864
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Elevated circulating creatinine concentration, Diarrhea, Increased blood urea nitrogen, Hyperlipi... OMIM:235400
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Dysphagia, Meckel diverticulum ORPHA:163961
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Chronic diarrhea, Hepatitis, Ileus, Villous atrophy OMIM:304790
Microvillus Inclusion Disease
Diarrhea, Villous atrophy, Abnormality of small intestinal villus morphology ORPHA:2290
Primary Pigmented Nodular Adrenocortical Disease
Hyperlipidemia, Increased circulating cortisol level, Paradoxical increased cortisol secretion on... ORPHA:189439
Metachromatic Leukodystrophy, Adult Form
Bowel incontinence, Neoplasm of the gallbladder, Cholecystitis ORPHA:309271
Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Hyperlipidemia, Elevated circulating creatine kinase concentration, Pancreatitis, S... ORPHA:565612
Q Fever
Hepatomegaly, Hepatitis, Splenomegaly, Abnormality of the liver, Hepatosplenomegaly, Cholecystiti... ORPHA:781
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Hyperlipidemia, Abnormality of the gastrointestina... ORPHA:439232
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Cleft palate, Cholelithiasis, Hepatosplenomegaly, Cholecystitis, Chronic constipation OMIM:301066
Schimke Immuno-Osseous Dysplasia
Abnormal intestine morphology, Pancreatitis, Hyperlipidemia ORPHA:1830
Smith-Lemli-Opitz Syndrome
Pyloric stenosis, Aganglionic megacolon, Cleft palate, Abnormality of the gallbladder, Elevated 7... ORPHA:818
Mandibuloacral Dysplasia With Type B Lipodystrophy
High palate, Hyperlipidemia OMIM:608612
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Hypoplastic colon, Hepatic fibrosis, Pancreatic fibrosis, Polysplenia, Hypoplasia o... OMIM:200995
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Rectal prolapse, Intestinal lymphangiectasia, Narrow palate, Hypoalbuminemia, Protein-losing ente... OMIM:235510
Aromatase Deficiency
Hepatic steatosis, Hyperlipidemia ORPHA:91
Combined Immunodeficiency-Enteropathy Spectrum
Bloody diarrhea, Peritoneal abscess, Hepatitis, Gastrointestinal atresia, Intestinal malrotation,... ORPHA:436252
Igg4-Related Kidney Disease
Abnormality of mesentery morphology, Retroperitoneal fibrosis, Elevated circulating creatinine co... ORPHA:449395
Metachromatic Leukodystrophy, Late Infantile Form
Cholecystitis ORPHA:309256
Metachromatic Leukodystrophy, Juvenile Form
Cholecystitis ORPHA:309263
Listeriosis
Splenic abscess, Vomiting, Peritonitis, Nausea, Liver abscess, Cholecystitis, Hepatic granulomato... ORPHA:533
Biliary, Renal, Neurologic, And Skeletal Syndrome
Esophageal varix, Splenomegaly, Increased circulating ferritin concentration, Conjugated hyperbil... OMIM:619534
Netherton Syndrome
Abnormal intestine morphology, Intestinal atresia, Villous atrophy OMIM:256500
Homozygous Familial Hypercholesterolemia
Hypercholesterolemia, Hepatic steatosis, Increased LDL cholesterol concentration, Hyperlipidemia ORPHA:391665
Immunodeficiency 85 And Autoimmunity
Chronic diarrhea, Villous atrophy, Vomiting OMIM:619510
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Protein-losing enteropathy OMIM:618154
Shwachman-Diamond Syndrome
Hepatomegaly, Pancreatic hypoplasia, Hypoamylasemia, Increased serum bile acid concentration, Ste... ORPHA:811
Crimean-Congo Hemorrhagic Fever
Hepatomegaly, Elevated circulating creatine kinase concentration, Melena, Splenomegaly, Parotitis... ORPHA:99827
Dextrocardia
Abnormality of the spleen, Meckel diverticulum, Pancreatic hypoplasia, Abnormality of abdominal s... ORPHA:1666
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Hyperlipidemia ORPHA:90154
Mandibuloacral Dysplasia With Type A Lipodystrophy
High palate, Calcinosis, Hyperlipidemia OMIM:248370
Wiedemann-Rautenstrauch Syndrome
Dysphagia, Hypertriglyceridemia OMIM:264090
Mandibuloacral Dysplasia With Type A Lipodystrophy
High palate, Hyperlipidemia ORPHA:90153
X-Linked Non-Syndromic Intellectual Disability
Pyloric stenosis, Meckel diverticulum ORPHA:777
Harrod Syndrome
Pyloric stenosis, High, narrow palate, Aganglionic megacolon, High palate, Malrotation of small b... OMIM:601095
Zygomycosis
Colon perforation, Splenic abscess, Vomiting, Nausea, Peritonitis, Colitis, Hematemesis, Hepatiti... ORPHA:73263
Atypical Werner Syndrome
Hepatic steatosis, Hypertriglyceridemia, Neoplasm of the small intestine ORPHA:79474
Immunodeficiency 82 With Systemic Inflammation
Duodenal ulcer, Villous atrophy, Elevated circulating C-reactive protein concentration, Vomiting,... OMIM:619381
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Villous atrophy, Splenomegaly, Chronic diarrhea, Colitis OMIM:614700
Steinert Myotonic Dystrophy
Elevated hepatic transaminase, Intestinal pseudo-obstruction, Cholelithiasis, Hypercholesterolemi... ORPHA:273
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Chronic diarrhea, Hepatosplenomegaly, Villous atrophy OMIM:606367
Diverticulosis Of Bowel, Hernia, And Retinal Detachment
Colonic diverticula, Small bowel diverticula OMIM:223330
Scedosporiosis
Abnormal jejunum morphology ORPHA:449280
Matthew-Wood Syndrome
Aplasia/Hypoplasia of the pancreas, Duodenal stenosis, Abnormal spleen morphology, Annular pancreas ORPHA:2470
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
High palate, Cleft palate, Intestinal malrotation, Hiatus hernia, Abnormal duodenum morphology, C... OMIM:601776
Kawasaki Disease
Hepatitis, Glossitis, Cholecystitis, Diarrhea, Jaundice ORPHA:2331
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Musculocontractural Ehlers-Danlos Syndrome
High palate, Cleft palate, Abnormality of mesentery morphology, Malrotation of small bowel, Const... ORPHA:2953
Wolf-Hirschhorn Syndrome
Cleft palate, Abdominal situs inversus, Abnormality of the gallbladder ORPHA:280
Wiedemann-Rautenstrauch Syndrome
Hepatic steatosis, Hypertriglyceridemia, Submucous cleft soft palate ORPHA:3455
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Intestinal malrotation, Morphological abnormality of the gastrointestinal tract ORPHA:2847
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hypokalemia, Hypophosphatemia, Malabsorption, Hypercholesterolemia, Narrow palate, ... ORPHA:534
Alg9-Cdg
Hepatomegaly, Villous atrophy, Vomiting, Hepatic cysts, Bifid uvula, Diarrhea, Gastroesophageal r... ORPHA:79328
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Meckel diverticulum OMIM:602613
Serkal Syndrome
Malrotation of small bowel ORPHA:139466
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Abnormal intestine morphology, Villous atrophy, Hepatitis, Hepatosplenomegaly, Esophageal carcino... ORPHA:391487
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Celiac disease, Hyperlipidemia, Gastrointestinal dysmotility, Elevated hepatic tran... ORPHA:293987
Lowe Oculocerebrorenal Syndrome
Elevated maternal serum alpha-fetoprotein, Hypercholesterolemia, Elevated amniotic fluid alpha-fe... OMIM:309000
Down Syndrome
Aganglionic megacolon, Duodenal stenosis, Macroglossia, Anal atresia, Protruding tongue OMIM:190685
Trisomy 8P
Cleft palate, Annular pancreas, Aplasia/Hypoplasia of the gallbladder, Bifid uvula, Malrotation o... ORPHA:264450
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Cleft palate, Meckel diverticulum, Duodenal atresia, Asplenia, Annular pancreas, Congenital short... OMIM:265380
Alström Syndrome
Hepatomegaly, Hepatic fibrosis, Hyperlipidemia, Esophageal varix, Hepatitis, Pancreatitis, Spleno... ORPHA:64
Turner Syndrome Due To Structural X Chromosome Anomalies
High, narrow palate, Inflammation of the large intestine, High palate, Hepatic fibrosis, Hyperlip... ORPHA:99413
Turner Syndrome
High, narrow palate, Inflammation of the large intestine, High palate, Hepatic fibrosis, Hyperlip... ORPHA:881
Mosaic Monosomy X
High, narrow palate, Inflammation of the large intestine, High palate, Hepatic fibrosis, Hyperlip... ORPHA:99228
Monosomy X
High, narrow palate, Inflammation of the large intestine, High palate, Hepatic fibrosis, Hyperlip... ORPHA:99226
Whim Syndrome
Abnormality of the small intestine, Parotitis ORPHA:51636
Fryns Syndrome
Ectopic pancreatic tissue, Aganglionic megacolon, Cleft palate, Duodenal atresia, Meckel divertic... OMIM:229850
Fabry Disease
Abnormal circulating lipid concentration, Achalasia, Malabsorption, Hyperlipidemia ORPHA:324
Congenital Tracheal Stenosis
Meckel diverticulum, Duodenal atresia, Morphological abnormality of the gastrointestinal tract, D... ORPHA:141127
Fanconi Anemia
Aganglionic megacolon, Cleft palate, High palate, Duodenal stenosis, Meckel diverticulum, Anal at... ORPHA:84
Tarp Syndrome
Abnormal duodenum morphology, Tongue nodules, Cleft palate, Glossoptosis ORPHA:2886
Woodhouse-Sakati Syndrome
Hyperlipidemia OMIM:241080
Thrombocytopenia-Absent Radius Syndrome
Hepatosplenomegaly, Meckel diverticulum, Pancreatic cysts OMIM:274000
Fraser Syndrome 1
Abnormality of the anus, Cleft palate, Abnormality of the small intestine OMIM:219000
Storm Syndrome
Fat malabsorption OMIM:185069
Woodhouse-Sakati Syndrome
Hyperlipidemia ORPHA:3464
Wolf-Hirschhorn Syndrome
Cleft palate, Malrotation of small bowel, Accessory spleen, Biliary tract abnormality, Gastroesop... OMIM:194190
Mosaic Trisomy 16
Anteriorly placed anus, Meckel diverticulum, Abnormality of the gastrointestinal tract ORPHA:1708
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatomegaly, Cleft palate, Meckel diverticulum, Exaggerated median tongue furrow, Macroglossia, ... OMIM:312870
Viss Syndrome
High, narrow palate, Dysphagia, High palate, Malposition of the stomach, Celiac disease, Macroglo... OMIM:619472
Autosomal Recessive Cutis Laxa Type 1
Pyloric stenosis, Small bowel diverticula ORPHA:90349
Autosomal Dominant Cutis Laxa
Small bowel diverticula, Vomiting ORPHA:90348

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
Soat2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Soat2tm81488(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Soat2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Soat2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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