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Gene: Mat1a MGI:88017

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
methionine adenosyltransferase 1A
Synonyms:
MATA1,  SAMS,  SAMS1,  MAT,  AdoMet,  Ams

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 Mat1a 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.

The table below shows human diseases associated to Mat1a by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Methionine Adenosyltransferase I/Iii Deficiency
OMIM:250850

The table below shows human diseases predicted to be associated to Mat1a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Glycine N-Methyltransferase Deficiency
Elevated hepatic transaminase, Hepatomegaly OMIM:606664
Hepatocellular Carcinoma
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis OMIM:114550
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... OMIM:615395
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Complement Component C1S Deficiency
Hepatitis, Hashimoto thyroiditis OMIM:613783
Combined Low Ldl And Fibrinogen
Elevated circulating aspartate aminotransferase concentration OMIM:620364
Cholestasis, Progressive Familial Intrahepatic, 11
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... OMIM:619874
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Elevated gamma-gluta... OMIM:614480
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatic failure, Hepatitis ORPHA:60
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating lactate dehydrogenase concentration, Hepatomegaly, Elevated circulating ala... OMIM:605911
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Hepatic steatosis OMIM:261650
Congenital Disorder Of Glycosylation, Type Iip
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Hepatic s... OMIM:616829
Tyrosinemia Type 1
Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc... ORPHA:882
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Alaninuria, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated c... OMIM:615158
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Elevated hepatic transaminase, Cholestatic liver disease OMIM:602114
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... OMIM:613812
Complement Component 4B Deficiency
Recurrent otitis media, Recurrent sinusitis, Chronic active hepatitis, Recurrent pneumonia OMIM:614379
Congenital Disorder Of Glycosylation, Type Iir
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Decreased liver fu... OMIM:301045
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Hepatic steatosis OMIM:618400
Diarrhea 13
Elevated hepatic transaminase, Hepatic steatosis OMIM:620357
Patent Ductus Venosus
Hepatic steatosis, Decreased liver function OMIM:601466
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Acne, Recurrent skin infections, Erythema nodosum, Splenomegaly, Hepatitis, Follicu... OMIM:300635
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Hepatic failure, Hash... OMIM:618549
Idiopathic Copper-Associated Cirrhosis
Hepatic steatosis, Copper accumulation in liver, Cirrhosis ORPHA:209919
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Recurrent otitis media, Splenomegaly, Hepatitis ORPHA:444463
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn... ORPHA:139507
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Increased hepatic glycogen content OMIM:232700
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Jaun... OMIM:607765
Citrullinemia, Type Ii, Adult-Onset
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... OMIM:603471
Systemic Primary Carnitine Deficiency
Elevated hepatic transaminase, Hepatomegaly ORPHA:158
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Increased muscle lipid content OMIM:610717
Gilbert Syndrome
Elevated hepatic transaminase, Jaundice, Hepatic failure OMIM:143500
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... OMIM:214950
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Abnormal circulating enzyme co... ORPHA:79303
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... ORPHA:905
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alkalin... OMIM:214900
Rotor Syndrome
Abnormal circulating enzyme concentration or activity, Jaundice, Storage in hepatocytes, Intermit... ORPHA:3111
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... OMIM:619658
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Elevated circulating creatinine concentration, Hepatic failure, Hepatic steatosis OMIM:617872
Bile Acid Conjugation Defect 1
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated c... OMIM:619232
Autoimmune Hepatitis
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp... ORPHA:2137
Cholestasis, Progressive Familial Intrahepatic, 3
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po... OMIM:602347
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi... OMIM:620010
Gallbladder Disease 1
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ... OMIM:600803
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly, Skin rash OMIM:619175
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619048
Congenital Bile Acid Synthesis Defect Type 1
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C... ORPHA:79301
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... OMIM:616278
Galactosemia Iii
Hepatomegaly, Splenomegaly, Jaundice, Decreased beta-galactosidase activity, Aminoaciduria OMIM:230350
Sea-Blue Histiocyte Disease
Splenomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... OMIM:269600
Cholesteryl Ester Storage Disease
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... OMIM:278000
Immunodeficiency 56
Cholangitis, Recurrent pneumonia, Bronchiectasis, Cirrhosis, Chronic hepatitis due to cryptospori... OMIM:615207
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatomegaly, Elevated alkaline phosphatase of bone origin, Spleno... OMIM:616828
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614582
Cholestasis, Intrahepatic, Of Pregnancy, 1
Elevated hepatic transaminase, Intrahepatic cholestasis, Jaundice, Abnormal liver function tests ... OMIM:147480
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... OMIM:618528
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi... OMIM:619868
Galactose Mutarotase Deficiency
Hepatomegaly, Decreased liver function, Cholestasis, Abnormal circulating enzyme concentration or... ORPHA:570422
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatitis, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic s... ORPHA:209902
Biliary Atresia, Extrahepatic
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... OMIM:210500
Congenital Macroglossia
Abnormal hepatic glycogen storage ORPHA:2430
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Hepatic steatosis, Pancreatitis ORPHA:79084
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Macrovesicular hepatic steatosis, Incr... OMIM:600649
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Hyperglycinuria OMIM:201450
Peroxisomal Acyl-Coa Oxidase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Diffuse hep... OMIM:264470
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatomegaly, Hepatic steatosis, Elevated hepatic transaminase OMIM:615438
Obesity And Hypopigmentation
Hepatic steatosis OMIM:620195
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... OMIM:618641
Bile Acid Malabsorption, Primary, 2
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:619481
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... ORPHA:567983
Preeclampsia/Eclampsia 1
Elevated hepatic transaminase OMIM:189800
Hepatic Veno-Occlusive Disease
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Ascites ORPHA:890
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis ORPHA:436182
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hepatic steatosis, Pan... OMIM:618805
Macrophage Activation Syndrome
Hepatomegaly, Increased inflammatory response, Elevated circulating aspartate aminotransferase co... ORPHA:158061
Combined Oxidative Phosphorylation Deficiency 52
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:619386
Congenital Disorder Of Glycosylation, Type Iih
Interface hepatitis, Elevated serum transaminases during infections, Elevated circulating asparta... OMIM:611182
Protoporphyria, Erythropoietic, X-Linked
Elevated hepatic transaminase, Cholelithiasis OMIM:300752
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... OMIM:619849
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Hepatitis ORPHA:363523
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Jaundice, Cholestatic liver di... OMIM:613404
Beta-Thalassemia
Splenomegaly, Hepatomegaly, Cholelithiasis, Hepatitis ORPHA:848
Hemochromatosis, Type 4
Hepatomegaly, Osteoarthritis, Hepatic steatosis, Cirrhosis OMIM:606069
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Cholelithiasis OMIM:194380
Gracile Syndrome
Hepatic steatosis, Cirrhosis, Cholestasis, Elevated hepatic iron concentration ORPHA:53693
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, El... OMIM:235555
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Viral hepatitis, Recurrent bacterial skin infections, Abnormal cir... ORPHA:101330
Congenital Bile Acid Synthesis Defect Type 3
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... ORPHA:79302
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:255120
Polycystic Liver Disease 2 With Or Without Kidney Cysts
Hepatomegaly, Hepatic cysts OMIM:617004
Adult-Onset Still Disease
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Skin rash, Splenomegaly, Myocarditis, ... ORPHA:829
Hemoglobin H Disease
Splenomegaly, Hepatomegaly OMIM:613978
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Hepatomegaly OMIM:606445
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Ulcerative colitis, Abnorm... ORPHA:562639
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis OMIM:613313
Portal Hypertension, Noncirrhotic, 2
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi... OMIM:619463
Lipodystrophy, Congenital Generalized, Type 3
Splenomegaly, Hepatomegaly, Hepatic steatosis, Hepatosplenomegaly OMIM:612526
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:614921
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Acute hepatitis, Homocitrullinuria, Decreased liver function, Hepatomegaly OMIM:238970
Hepatorenocardiac Degenerative Fibrosis
Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Hepatosplenomegaly, ... OMIM:619902
Cholestasis, Progressive Familial Intrahepatic, 6
Elevated hepatic transaminase, Intrahepatic cholestasis, Periportal fibrosis, Elevated circulatin... OMIM:619484
Immunodeficiency 42
Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Recurrent aphthous stomatitis,... OMIM:616622
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Elevated circulating aspartate aminotransferase concentration, Microvesicular h... OMIM:605814
Alpha-1-Antitrypsin Deficiency
Elevated hepatic transaminase, Splenomegaly, Bronchiectasis, Cirrhosis, Hepatocellular carcinoma OMIM:613490
Cholestasis, Benign Recurrent Intrahepatic, 2
Hepatomegaly, Intrahepatic cholestasis, Jaundice, Elevated circulating alkaline phosphatase conce... OMIM:605479
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Pneumonia, Recurrent pneumonia, Hepatitis, Hepatosplenomegaly, Otitis m... ORPHA:169160
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... OMIM:619662
Autosomal Agammaglobulinemia
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Bronchiectasis, Hepatitis, Arthri... ORPHA:33110
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:616433
Combined Oxidative Phosphorylation Deficiency 19
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... OMIM:615595
Trichohepatoenteric Syndrome 2
Hepatomegaly, Colitis, Cirrhosis, Chronic hepatitis OMIM:614602
Cholestasis, Intrahepatic, Of Pregnancy 3
Abnormal liver function tests during pregnancy, Intrahepatic cholestasis, Jaundice OMIM:614972
Glycogen Storage Disease Ixb
Splenomegaly, Hepatomegaly, Increased hepatic glycogen content, Increased muscle glycogen content OMIM:261750
Benign Recurrent Intrahepatic Cholestasis
Elevated hepatic transaminase, Jaundice, Acholic stools, Cholestatic liver disease, Cirrhosis, He... ORPHA:65682
Telangiectasia, Hereditary Hemorrhagic, Type 5
Elevated hepatic transaminase, Portal hypertension OMIM:615506
Coach Syndrome 2
Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated circulating creatinine conce... OMIM:619111
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis OMIM:615918
Congenital Bile Acid Synthesis Defect Type 4
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... ORPHA:79095
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Pustule, Myocarditis, Hepatitis,... ORPHA:139402
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Increased hepatic echo... OMIM:261680
Hyperbilirubinemia, Shunt, Primary
Splenomegaly, Hepatomegaly, Jaundice OMIM:237800
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Cirrhosis, Hepato... ORPHA:369
Lipodystrophy, Partial, Acquired, Susceptibility To
Membranoproliferative glomerulonephritis, Hepatic steatosis OMIM:608709
Morbid Obesity And Spermatogenic Failure
Hepatic steatosis OMIM:615703
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... OMIM:251880
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In... OMIM:613027
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Hepatic melanin-like lysosomal pigmentation,... OMIM:208085
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Hepatosplenomegaly, Cirrhosi... OMIM:616860
Liver Failure, Infantile, Transient
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato... OMIM:613070
Cyanosis, Transient Neonatal
Hepatomegaly, Jaundice OMIM:613977
Acquired Partial Lipodystrophy
Hepatic steatosis ORPHA:79087
Cholestasis, Progressive Familial Intrahepatic, 4
Portal hypertension, Intrahepatic cholestasis, Cirrhosis, Hepatocellular carcinoma, Hepatic failure OMIM:615878
Graft Versus Host Disease
Elevated hepatic transaminase, Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammat... ORPHA:39812
Primary Biliary Cholangitis
Portal hypertension, Jaundice, Hepatic failure, Hepatitis, Biliary cirrhosis, Gastrointestinal in... ORPHA:186
Cryoglobulinemic Vasculitis
Hepatomegaly, Viral hepatitis, Splenomegaly, Arthritis, Abnormality of the liver, Keratoconjuncti... ORPHA:91138
Plin1-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hepatic fibrosis ORPHA:280356
Interstitial Lung And Liver Disease
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:615486
Melioidosis
Foot osteomyelitis, Liver abscess, Pneumonia, Abnormality of the spleen, Osteoarthritis, Hepatiti... ORPHA:31202
Congenital Isolated Acth Deficiency
Hepatitis, Prolonged neonatal jaundice ORPHA:199296
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Macrovesicular hepatic steatosis OMIM:618234
Lichen Planopilaris
Hepatitis ORPHA:525
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirr... ORPHA:69663
Griscelli Syndrome
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Ascites ORPHA:381
Short Chain Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis ORPHA:26792
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice OMIM:243300
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hepatic steatosis, He... OMIM:231530
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Recurrent pneumonia, ... ORPHA:47
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Splenomegaly, Hepatitis, Chronic hepatitis, Sclerosing cholangitis, Cirrhosis, Chro... OMIM:308230
Primary Sclerosing Cholangitis
Acute hepatic failure, Uveitis, Hepatic fibrosis, Neoplasm of the gallbladder, Elevated alkaline ... ORPHA:171
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated hepatic transaminase, Hepatomegaly, Reduced carnitine O-palmitoyltransferase level, Hepa... ORPHA:228305
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Cardiomegaly, Microv... OMIM:212140
Tyrosinemia, Type Iii
Elevated hepatic transaminase, Hypertyrosinemia OMIM:276710
Budd-Chiari Syndrome
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... ORPHA:131
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Elevated circulating... OMIM:601847
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hepatic steatosis OMIM:615238
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Abnormal lactate dehydrogenase level, ... ORPHA:42
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Cholangitis, Biliary tract abnormality, Chronic mucocutaneous candidiasis, Colit... OMIM:209920
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholestasis, Jaundice... OMIM:617093
Autoimmune Polyendocrine Syndrome, Type Ii
Asplenia, Hepatitis, Chronic mucocutaneous candidiasis, Chronic hepatitis, Keratoconjunctivitis, ... OMIM:269200
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis OMIM:613877
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly OMIM:306000
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating alanine aminotransferase concen... OMIM:615381
Ddost-Cdg
Elevated hepatic transaminase, Hepatic steatosis ORPHA:300536
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis OMIM:275630
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Hepatic steatosis, Hepatosplenomegaly OMIM:619013
Congenital Disorder Of Glycosylation, Type Iij
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Elevated circulating alkaline phosphat... OMIM:613489
Q Fever
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Osteomyelitis, Maculopapular exanthema... ORPHA:781
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Abnormal circulating enzyme concentration or activity, Hepatic steatosis, Decreased liver function ORPHA:70472
Cirrhosis, Familial
Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Cirrhosis, Ascites OMIM:215600
Dubin-Johnson Syndrome
Hepatomegaly, Jaundice, Abnormality of the liver, Biliary tract abnormality ORPHA:234
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Acute hepatic failure, Cholangitis, Portal hypertension, Hypersplenism, Hepatitis, Thyroiditis, H... ORPHA:228426
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hepatic steatosis ORPHA:79085
Congenital Enterovirus Infection
Skin rash, Fetal ascites, Myocarditis, Hepatitis, Cholestasis, Hepatic failure, Infectious enceph... ORPHA:292
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis ORPHA:369840
Pediatric Hepatocellular Carcinoma
Portal vein thrombosis, Hepatomegaly, Hepatic fibrosis, Hepatic necrosis ORPHA:33402
Isolated Sedoheptulokinase Deficiency
Cholestasis, Cholestatic liver disease, Hepatitis, Portal hypertension ORPHA:440713
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... OMIM:256810
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, He... ORPHA:210136
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Glomerulonephritis, Eczema, Hepatitis, Arthritis, Erythroderma OMIM:304790
Avian Influenza
Elevated hepatic transaminase, Pneumonia, Hepatitis, Conjunctivitis, Increased circulating lactat... ORPHA:454836
Legionnaires Disease
Pericarditis, Splenomegaly, Jaundice, Myocarditis, Hepatitis, Endocarditis, Infectious encephalit... ORPHA:549
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Necrotizing enterocolitis, Cardiomegaly, Hepatocellular necrosis, Periportal fibros... OMIM:201475
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Elevated hepatic transaminase, Hypertyrosinemia, Microvesicular hepatic steatosis, Jaundice, Chol... OMIM:617156
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Hepatic steatosis, Cirrhosis ORPHA:363400
Bacterial Toxic-Shock Syndrome
Myositis, Sinusitis, Fasciitis, Pneumonia, Osteomyelitis, Skin rash, Glomerulonephritis, Recurren... ORPHA:36234
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating alanine aminotransferase concentration, Hepatic steatosis, Cholestasis, Port... OMIM:614300
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Elevated hepatic transaminase, Exocrine pancreatic insufficiency OMIM:618752
Aspergillosis
Sinusitis, Osteomyelitis, Pneumonia, Keratitis, Bronchiectasis, Hepatitis, Infectious encephalitis ORPHA:1163
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... ORPHA:264580
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Cholestasis, Hepati... OMIM:610199
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Hepatic fibrosis, Esophagitis, He... ORPHA:541423
3-Methylglutaconic Aciduria, Type V
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... OMIM:610198
Bardet-Biedl Syndrome 19
Hepatic steatosis OMIM:615996
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Portal hypertension, Hypersplenism, Splenomegaly, Hepatitis, Hashimoto thyroiditis OMIM:613385
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Hepatic steatosis, Pancreatitis ORPHA:435651
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... OMIM:277900
Alstrom Syndrome
Elevated hepatic transaminase, Hepatomegaly, Chronic active hepatitis, Recurrent pneumonia, Tubul... OMIM:203800
Immunodeficiency 47
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Elevated circulating aspartate ami... OMIM:300972
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Pyoderma, Conjunctivitis,... OMIM:307200
Macrocephaly-Intellectual Disability-Autism Syndrome
Hepatic steatosis ORPHA:210548
Hepatoportal Sclerosis
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... ORPHA:64743
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholest... ORPHA:30391
Chylomicron Retention Disease
Elevated hepatic transaminase, Increased hepatocellular lipid droplets, Hepatic steatosis ORPHA:71
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Viral hepatitis, Chronic gastritis, Liver abscess, Psoriasiform dermatitis, Cholangitis, Pneumoni... ORPHA:183675
Interstitial Nephritis, Karyomegalic
Elevated hepatic transaminase, Tubulointerstitial nephritis, Elevated circulating creatinine conc... OMIM:614817
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Elevated hepatic transaminase, Myositis, Psoriasiform dermatitis, Osteomyelitis, Eczema, Pneumoni... ORPHA:37042
Fanconi-Bickel Syndrome
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic failure, Ele... ORPHA:2088
Lipodystrophy, Familial Partial, Type 6
Hepatic steatosis OMIM:615980
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure OMIM:611126
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis OMIM:212138
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Elevated hepatic transaminase, Hepatomegaly, Hepatitis, Decreased liver function, Hepatic failure ORPHA:415
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... ORPHA:53035
Microsporidiosis
Myositis, Sinusitis, Osteomyelitis, Cholangitis, Pneumonia, Keratitis, Abnormality of the spleen,... ORPHA:2552
Mucopolysaccharidosis Type 7
Splenomegaly, Ascites, Hepatitis ORPHA:584
Myasthenia Gravis
Rheumatoid arthritis, Myositis, Hepatitis, Hashimoto thyroiditis ORPHA:589
Adrenomyodystrophy
Hepatic steatosis ORPHA:977
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Abnormal muscle glycogen conten... ORPHA:367
Klatskin Tumor
Hepatomegaly, Jaundice, Cholangiocarcinoma, Extrahepatic cholestasis ORPHA:99978
Dpm1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Hepatosplenomegaly, Hepatic fibrosis, Hepatic steatosis ORPHA:79322
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Splenomegaly, Fulminant hepatitis, Hepatic failure, Infectious encephalitis OMIM:308240
Chronic Mucocutaneous Candidiasis
Cheilitis, Skin rash, Hepatitis ORPHA:1334
Hypermanganesemia With Dystonia 1
Elevated hepatic transaminase, Hepatomegaly, Decreased liver function, Cirrhosis OMIM:613280
Ebola Hemorrhagic Fever
Acute pancreatitis, Maculopapular exanthema, Hepatitis ORPHA:319218
Dominant Beta-Thalassemia
Hypersplenism, Splenomegaly, Jaundice, Chronic hepatitis, Hepatosplenomegaly, Hepatic fibrosis, C... ORPHA:231226
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Jaundice, Generalized aminoaciduria, Hepatic periportal necrosis, Hepatic steatosis OMIM:231680
Infantile Liver Failure Syndrome 2
Elevated hepatic transaminase, Jaundice, Acute hepatic failure OMIM:616483
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Skin rash, Acute otitis media, Chronic mucocutaneous candidiasis, Sclerosing cholangit... ORPHA:572
Neutral Lipid Storage Disease With Ichthyosis
Elevated hepatic transaminase, Hepatomegaly, Micronodular cirrhosis, Increased intramyocellular l... ORPHA:98907
Lipodystrophy, Familial Partial, Type 3
Hepatic steatosis, Cirrhosis OMIM:604367
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic steatosis, Pancreatitis ORPHA:79083
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614924
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Chronic active hepatitis, Asplenia, Iridocyclitis, Chronic mucocutaneous cand... OMIM:240300
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Increased circulating lactate dehydrogenase concentration, Hepatic steatos... ORPHA:99901
Aicardi-Goutieres Syndrome 9
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Pericarditis, Chilblains, Portal... OMIM:619487
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Hepatic steatosis, Decreased liver function OMIM:614922
Familial Partial Lipodystrophy, Dunnigan Type
Splenomegaly, Hepatomegaly, Hepatic steatosis, Pancreatitis ORPHA:2348
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Iridocyclitis, Hepatitis, Biliary cirrhosis, Chronic mucocutaneous candidiasi... ORPHA:227990
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:608836
Citrullinemia Type Ii
Elevated hepatic transaminase, Hepatomegaly, Hepatic fibrosis, Hepatocellular carcinoma, Hepatic ... ORPHA:247585
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Hepatic steatosis ORPHA:435660
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Abnormal circulating enzyme conce... ORPHA:348
Caroli Syndrome
Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port... ORPHA:480520
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Elevated circulating alkaline phosphatase concentration, Hepatic steatosis ORPHA:52430
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Methioninuria, Homocystinuria, Hepatic steatosis, Pancreatitis OMIM:236200
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Iridocyclitis, Hepatitis, Biliary cirrhosis, Chronic mucocutaneous candidiasi... ORPHA:227982
Rift Valley Fever
Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Uveitis, Infectious encephalitis ORPHA:319251
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypertyrosinemia, Jaundice, Cholestasis, Hepatosplen... ORPHA:247598
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated hepatic transaminase, Macrovesicular hepatic steatosis, Cirrhosis ORPHA:298
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Aminoaciduria, Diffuse hepatic steatosis, Decreased liver function ORPHA:436271
Relapsing Polychondritis
Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Hepatitis, Uveitis, Scle... ORPHA:728
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Splenomegaly, Hepatitis, Atop... OMIM:615846
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating alkaline phosphatase concentrat... OMIM:616026
Congenital Generalized Lipodystrophy
Hepatomegaly, Hepatic steatosis, Cirrhosis ORPHA:528
Spondyloenchondrodysplasia
Skin rash, Pneumonia, Hepatitis, Arthritis, Juvenile rheumatoid arthritis ORPHA:1855
T-Cell Immunodeficiency With Thymic Aplasia
Sinusitis, Pneumonia, Atypical or prolonged hepatitis, Thyroiditis, Chronic oral candidiasis, Chr... ORPHA:83471
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent pneumonia, Bronchiectasis, Pyoderma, ... OMIM:300755
Neutral Lipid Storage Myopathy
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Chronic pan... ORPHA:98908
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Hepatic necrosis, Decreased 3-hydroxyacyl-C... ORPHA:71212
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated hepatic transaminase, Hypertyrosinemia, Cholangitis, Microvesicular hepatic steatosis, C... OMIM:124000
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Bile duct proliferation, Macrovesicular hepatic steatosis, Elevate... OMIM:618329
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Panniculitis, Cirrhosis, Hepatic steatosis ORPHA:79086
Kawasaki Disease
Pericarditis, Skin rash, Myocarditis, Jaundice, Hepatitis, Cheilitis, Arthritis, Conjunctivitis, ... ORPHA:2331
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Microvesicular hepatic steatosis, Splenomegaly, Macronodular cirr... OMIM:619418
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Psoriasiform dermatitis, Enterocolitis, Interface hepatitis OMIM:243150
Fructose Intolerance, Hereditary
Elevated hepatic transaminase, Hepatomegaly, Transient aminoaciduria, Jaundice, Cirrhosis, Hepati... OMIM:229600
Acute Disseminated Encephalomyelitis
Viral hepatitis, Herpes simplex encephalitis, Optic neuritis, Myelitis ORPHA:83597
Familial Chylomicronemia Syndrome
Acute pancreatitis, Perianal abscess, Jaundice, Hepatosplenomegaly, Recurrent pancreatitis, Hepat... ORPHA:444490
Dysbetalipoproteinemia
Hepatomegaly, Acute pancreatitis, Hepatic steatosis, Gout ORPHA:412
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Gastritis, Glomerulonephritis, Hypersplenism, Splenomegaly, Hepatitis, Uveitis, Thy... ORPHA:3261
Mccune-Albright Syndrome
Hepatocellular adenoma, Pancreatitis, Hepatitis, Cholestasis ORPHA:562
Seckel Syndrome 10
Acute pancreatitis, Elevated circulating alanine aminotransferase concentration, Hepatic steatosi... OMIM:617253
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Cholestasis, Portal fibrosis, Hepatic fibrosis, Prolonged neona... OMIM:619377
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Recurrent pneumonia, Hepatic steatosis OMIM:613327
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Aminoaciduria, Decreased liver function, Increased intramyocellular lipid droplets,... OMIM:220110
Zygomycosis
Fasciitis, Sinusitis, Pericarditis, Gastritis, Pustule, Myocarditis, Peritonitis, Hepatitis, Ente... ORPHA:73263
Combined Immunodeficiency-Enteropathy Spectrum
Psoriasiform dermatitis, Hepatitis, Abnormal ductus choledochus morphology, Hashimoto thyroiditis... ORPHA:436252
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Cardiomegaly, Hepatic calcification, Tubulointerstitial nephritis, Reduced carnitin... ORPHA:228308
Cimdag Syndrome
Microvesicular hepatic steatosis, Cholelithiasis, Hepatomegaly OMIM:619273
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Hepatic steatosis ORPHA:445038
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Eczema, Bronchiectasis, Hepatitis, Hepatosplenomegaly, Ente... ORPHA:391487
D-Bifunctional Protein Deficiency
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Fetal ascit... OMIM:261515
Idiopathic Hypereosinophilic Syndrome
Elevated hepatic transaminase, Inflammatory abnormality of the skin, Cholangitis, Eczema, Splenom... ORPHA:3260
Leptospirosis
Hepatomegaly, Pericarditis, Skin rash, Jaundice, Hepatitis, Uveitis, Optic neuritis, Elevated ser... ORPHA:509
Mirizzi Syndrome
Elevated hepatic transaminase, Pancreatitis, Jaundice, Elevated circulating alkaline phosphatase ... ORPHA:521219
Simple Cryoglobulinemia
Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Arthritis, Nephritis ORPHA:91139
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Hepatomegaly, Myositis, Sinusitis, Skin rash, Splenomegaly, Arthri... OMIM:617591
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis OMIM:210200
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of exocr... ORPHA:93111
Late-Onset Isolated Acth Deficiency
Hepatitis, Hashimoto thyroiditis ORPHA:199299
Senior-Boichis Syndrome
Elevated hepatic transaminase, Malformation of the hepatic ductal plate, Portal hypertension, Con... ORPHA:84081
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Elevated c... OMIM:619525
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Esophagitis OMIM:615356
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato... OMIM:203700
Lysosomal Acid Lipase Deficiency
Elevated hepatic transaminase, Fatal liver failure in infancy, Hypersplenism, Microvesicular hepa... ORPHA:275761
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Atrophic gastritis, Necrotizing enterocolitis, Elevated circulating aspartate amino... OMIM:619573
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Hepatic fibrosis, Hepatic steatosis OMIM:212065
Progeria-Short Stature-Pigmented Nevi Syndrome
Elevated hepatic transaminase, Neoplasm of the pancreas, Hepatic steatosis ORPHA:2959
Immunodeficiency 82 With Systemic Inflammation
Osteomyelitis, Skin rash, Pneumonia, Recurrent skin infections, Gastritis, Splenomegaly, Bronchie... OMIM:619381
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Hepatocellular adenoma, Gout... ORPHA:79259
Mitochondrial Trifunctional Protein Deficiency
Left ventricular hypertrophy, Diffuse hepatic steatosis, Chronic hepatic failure, Cholestasis ORPHA:746
Tyrosinemia, Type I
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Hypertyrosinemia, Splenomegal... OMIM:276700
Acute Liver Failure
Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Hepatic necrosis, Hepatocellular n... ORPHA:90062
19P13.12 Microdeletion Syndrome
Hepatic steatosis ORPHA:254346
Primary Sjögren Syndrome
Myositis, Chronic active hepatitis, Glomerulonephritis, Lymphocytic interstitial pneumonia, Eryth... ORPHA:289390
Lipodystrophy, Congenital Generalized, Type 1
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Splenomegaly, Cirrhosis, Hepatic... OMIM:608594
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Hepatic steatosis, Exocrine pancreatic insuf... OMIM:616263
Dilated Cardiomyopathy With Ataxia
Elevated hepatic transaminase, Microvesicular hepatic steatosis ORPHA:66634
Combined Oxidative Phosphorylation Deficiency 27
Microvesicular hepatic steatosis OMIM:616672
Postinfectious Vasculitis
Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... ORPHA:48435
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Splenomegaly, Recurrent pneumonia, Macrovesicular hepatic steatosis, Nephritis, Enl... OMIM:617303
Gaucher Disease
Hepatomegaly, Osteomyelitis, Splenomegaly, Osteoarthritis, Hepatitis, Cirrhosis ORPHA:355
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Jaundice, Lipid accumulation in ... ORPHA:20
Abetalipoproteinemia
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Keratoconjunctivitis sicca, Hepatic fi... ORPHA:14
Lipodystrophy, Congenital Generalized, Type 2
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Splenomegaly, Cirrhosis, Hepatic... OMIM:269700
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Splenomegaly, Hepatomegaly, Hepatic steatosis, Pancreatitis ORPHA:280365
3-Methylglutaconic Aciduria, Type Viib
Recurrent pneumonia, Hepatic steatosis OMIM:616271
Reynolds Syndrome
Elevated hepatic transaminase, Hepatomegaly, Erythema nodosum, Splenomegaly, Jaundice, Biliary ci... OMIM:613471
Liver Disease, Severe Congenital
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Aminoaciduria, Elevated hepatic iron concen... OMIM:619991
Monosomy 13Q34
Hepatic steatosis ORPHA:96168
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... ORPHA:17
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Acute pancreatitis, Hepatic steatosis OMIM:151660
Occipital Horn Syndrome
Esophagitis, Jaundice, Hepatitis, Cholestasis ORPHA:198
Pearson Syndrome
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Macronodular cirr... ORPHA:699
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated hepatic transaminase, Portal hypertension, Cholestasis, Bile duct proliferation, Decreas... OMIM:613658
Arima Syndrome
Hepatic steatosis, Hepatic fibrosis, Cirrhosis, Hepatomegaly OMIM:243910
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Elevated hepatic transaminase, Hepatomegaly, Nodular regenerative hyperplasia of liver, Splenomeg... ORPHA:404454
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Hepatic steatosis, Acne ORPHA:189427
Lujo Hemorrhagic Fever
Elevated hepatic transaminase, Maculopapular exanthema, Skin rash, Myocarditis, Fulminant hepatit... ORPHA:319213
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Cardiomegaly, Microvesicular hepatic steatosis, Hepatocellular necrosis, Hepatosple... OMIM:618278
Bloom Syndrome
Malar rash, Hepatic steatosis, Bronchiectasis OMIM:210900
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hepatomegaly, Seborrheic dermatitis, Microvesicular hepatic steatosis, Elevated circulating alkal... OMIM:300868
Aromatase Deficiency
Enlarged polycystic ovaries, Hepatic steatosis ORPHA:91
Intellectual Developmental Disorder, Autosomal Dominant 68
Hepatic steatosis OMIM:619934
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hepatic transaminase, Hepatomegaly, Left ventricular hypertrophy, Macrovesicular hepatic... OMIM:619127
Turner Syndrome Due To Structural X Chromosome Anomalies
Elevated hepatic transaminase, Biliary cirrhosis, Thyroiditis, Gastrointestinal inflammation, Cho... ORPHA:99413
Turner Syndrome
Elevated hepatic transaminase, Biliary cirrhosis, Thyroiditis, Gastrointestinal inflammation, Cho... ORPHA:881
Mosaic Monosomy X
Elevated hepatic transaminase, Biliary cirrhosis, Thyroiditis, Gastrointestinal inflammation, Cho... ORPHA:99228
Monosomy X
Elevated hepatic transaminase, Biliary cirrhosis, Thyroiditis, Gastrointestinal inflammation, Cho... ORPHA:99226
Smith-Lemli-Opitz Syndrome
Hepatomegaly, Eczema, Splenomegaly, Cholestatic liver disease, Cirrhosis, Recurrent otitis media,... OMIM:270400
Alström Syndrome
Elevated hepatic transaminase, Hepatomegaly, Glomerulonephritis, Portal hypertension, Splenomegal... ORPHA:64
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Elevated hepatic transaminase, Osteomyelitis, Abnormal abdomen morphology, Jaundice, Otitis media... OMIM:619475
Ogden Syndrome
Eczema, Cardiomegaly, Microvesicular hepatic steatosis, Jaundice, Macrovesicular hepatic steatosi... OMIM:300855
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hepatic steatosis OMIM:619321
1P36 Deletion Syndrome
Abnormality of the spleen, Abnormality of the liver, Hepatic steatosis, Annular pancreas ORPHA:1606
Digeorge Syndrome
Acne, Seborrheic dermatitis, Splenomegaly, Recurrent pneumonia, Recurrent sinusitis, Recurrent ot... OMIM:188400
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Fetal ascites, Portal hypertension, Atopic dermatitis, Cholestasis, Hepatosplenomegaly, Recurrent... OMIM:619503
Atypical Werner Syndrome
Hepatic steatosis ORPHA:79474
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Left ventricular hypertrophy, Microvesicular hepatic steatosis, Increased hepatocellular lipid dr... OMIM:220111
Wiedemann-Rautenstrauch Syndrome
Recurrent skin infections, Recurrent otitis media, Hepatic steatosis, Synovitis ORPHA:3455
Homozygous Familial Hypercholesterolemia
Hepatic steatosis ORPHA:391665
Methionine Adenosyltransferase I/Iii Deficiency
OMIM:250850

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 Mat1a

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 Mat1a.

No publications found that use IMPC mice or data for Mat1a.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Mat1atm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Mat1atm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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