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Gene: Krt18 MGI:96692

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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:
keratin 18
Synonyms:
CK18,  K18,  Endo B,  Krt1-18

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 Krt18 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 Krt18 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cirrhosis, Familial
Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Hypertension, Cirrhosis... OMIM:215600

The table below shows human diseases predicted to be associated to Krt18 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
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, Hypertrophic cardiomyopathy, Elevated circulating alanine amino... 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
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Elevated gamma-gluta... OMIM:614480
Polycystic Liver Disease 2 With Or Without Kidney Cysts
Hepatomegaly, Hepatic cysts OMIM:617004
Nphp3-Related Meckel-Like Syndrome
Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology ORPHA:3032
Hemochromatosis, Neonatal
Abnormal bleeding, Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Prolonged n... OMIM:231100
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Hepatic steatosis OMIM:261650
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Hepatic steatosis OMIM:618400
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatic failure, Hepatitis ORPHA:60
Patent Ductus Venosus
Hepatic steatosis, Persistent patent ductus venosus, Decreased liver function, Congenital portosy... OMIM:601466
Pediatric Hepatocellular Carcinoma
Portal vein thrombosis, Hepatomegaly, Hepatic fibrosis, Hepatic necrosis ORPHA:33402
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Congestive heart failure, Micronodular c... ORPHA:139507
Fetal Cytomegalovirus Syndrome
Splenomegaly, Hepatomegaly ORPHA:294
Congenital Disorder Of Glycosylation, Type Iip
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Hepatic s... OMIM:616829
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Cholestasis, Progressive Familial Intrahepatic, 11
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... OMIM:619874
Complement Component 4B Deficiency
Recurrent otitis media, Recurrent sinusitis, Chronic active hepatitis, Recurrent pneumonia OMIM:614379
Diarrhea 13
Elevated hepatic transaminase, Hepatic steatosis OMIM:620357
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Dilated cardiomyopathy, Hepatic necrosis, Decreased 3-hydroxyacyl-CoA ... OMIM:231530
Congenital Disorder Of Glycosylation, Type Iir
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Decreased liver fu... OMIM:301045
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... OMIM:613812
Idiopathic Copper-Associated Cirrhosis
Hepatic steatosis, Copper accumulation in liver, Cirrhosis ORPHA:209919
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatomegaly, Increased muscle lipid content, Cardiomyopathy, Hepa... OMIM:610717
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Recurrent otitis media, Splenomegaly, Hepatitis ORPHA:444463
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly ORPHA:79281
Citrullinemia, Type Ii, Adult-Onset
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... OMIM:603471
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Acne, Recurrent skin infections, Erythema nodosum, Splenomegaly, Hepatitis, Follicu... OMIM:300635
Carcinoid Syndrome
Elevated hepatic transaminase, Tricuspid regurgitation, Right ventricular failure, Heart murmur, ... ORPHA:100093
Congenital Macroglossia
Neurofibroma, Abnormal hepatic glycogen storage ORPHA:2430
Hepatoportal Sclerosis
Abnormal bleeding, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Portal hypertensio... ORPHA:64743
Rotor Syndrome
Abnormal circulating enzyme concentration or activity, Jaundice, Storage in hepatocytes, Intermit... ORPHA:3111
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Increased hepatic glycogen content OMIM:232700
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Gingival bleeding, He... OMIM:618549
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... ORPHA:905
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Jaun... OMIM:607765
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Congestive heart fai... OMIM:619048
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis ORPHA:436182
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... OMIM:214950
Morbid Obesity And Spermatogenic Failure
Congestive heart failure, Hypertension, Hepatic steatosis, Myocardial infarction OMIM:615703
Autoimmune Hepatitis
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Viral hepatitis, Diffuse hepatic stea... ORPHA:2137
Obesity And Hypopigmentation
Hepatic steatosis OMIM:620195
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Hypertension, Pancreatitis, Hepatic steatosis ORPHA:79084
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Hemochromatosis, Type 4
Hepatomegaly, Osteoarthritis, Cardiomyopathy, Cirrhosis, Arrhythmia, Hepatic steatosis OMIM:606069
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Necrotizing enterocolitis, Sudden cardiac death, Hepatocellular necrosis, Periporta... OMIM:201475
Tyrosinemia Type 1
Acute hepatic failure, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly ORPHA:882
Medullary Thyroid Carcinoma
Neoplasm of the skeletal system, Abnormal liver parenchyma morphology, Neoplasm of the lung, Pheo... ORPHA:1332
Immunodeficiency 54
Splenomegaly, Hepatomegaly, Chromosome breakage, Lymphoproliferative disorder OMIM:609981
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... OMIM:605911
Peroxisomal Acyl-Coa Oxidase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Diffuse hep... OMIM:264470
Immunodeficiency 56
Cholangitis, Recurrent pneumonia, Bronchiectasis, Cirrhosis, Chronic hepatitis due to cryptospori... OMIM:615207
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Cardiomyopathy, Hypertrophic cardiomyopathy, Hepatic steatosis OMIM:615119
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Abnormal circulating enzyme co... ORPHA:79303
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Reduced systolic function, Dilated cardiomyopathy, Elevated circulating alanine ami... OMIM:618805
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614582
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... OMIM:251880
Gracile Syndrome
Hepatic steatosis, Cirrhosis, Cholestasis, Elevated hepatic iron concentration ORPHA:53693
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis OMIM:615918
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Hepatitis ORPHA:363523
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatomegaly, Hepatic steatosis, Elevated hepatic transaminase OMIM:615438
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... OMIM:618528
N Syndrome
Abnormality of chromosome stability, Leukemia, Neoplasm OMIM:310465
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Viral hepatitis, Abnormal circulating enzyme concentration or acti... ORPHA:101330
Plin1-Related Familial Partial Lipodystrophy
Hypertension, Hepatic fibrosis, Hepatic steatosis ORPHA:280356
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Mac... OMIM:600649
Lipodystrophy, Partial, Acquired, Susceptibility To
Membranoproliferative glomerulonephritis, Hepatic steatosis OMIM:608709
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... OMIM:618641
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatitis, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic s... ORPHA:209902
Cholesteryl Ester Storage Disease
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... OMIM:278000
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hepatic failure, Hepatic steatosis OMIM:617872
Acquired Partial Lipodystrophy
Hepatic steatosis ORPHA:79087
Short Chain Acyl-Coa Dehydrogenase Deficiency
Cardiomyopathy, Hepatic steatosis ORPHA:26792
Mitochondrial Complex I Deficiency, Nuclear Type 11
Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Macrovesicular hepatic st... OMIM:618234
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Hemoglobin H Disease
Splenomegaly, Hepatomegaly OMIM:613978
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Hepatomegaly OMIM:606445
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Hepatomegaly, Viral hepatitis, Splenomegaly, Vasculitis, Arthritis, ... ORPHA:91138
Combined Oxidative Phosphorylation Deficiency 52
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:619386
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatomegaly, Elevated alkaline phosphatase of bone origin, Spleno... OMIM:616828
Congenital Disorder Of Glycosylation, Type Iih
Interface hepatitis, Elevated serum transaminases during infections, Elevated circulating asparta... OMIM:611182
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Ataxia-Telangiectasia
Elevated hepatic transaminase, Abnormality of chromosome stability, Telangiectasia of the skin, N... ORPHA:100
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly ORPHA:46532
Bile Acid Malabsorption, Primary, 2
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:619481
Beta-Thalassemia
Hepatomegaly, Splenomegaly, Hepatitis, Cholelithiasis, Hypertrophic cardiomyopathy ORPHA:848
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Prolonged QT interval, Elevated hepatic transaminase, Dilated cardiomyopat... ORPHA:71212
Fanconi Anemia, Complementation Group G
Abnormality of chromosome stability, Leukemia, Myelodysplasia OMIM:614082
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Elevated circulating aspartate aminotra... OMIM:614921
Autosomal Agammaglobulinemia
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Hepatitis, Bronchiectasis, Arthri... ORPHA:33110
Lipodystrophy, Congenital Generalized, Type 3
Splenomegaly, Hepatomegaly, Hepatic steatosis, Hepatosplenomegaly OMIM:612526
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Cirrhosis, Hepato... ORPHA:369
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... OMIM:256810
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... ORPHA:567983
Lipodystrophy, Familial Partial, Type 4
Hypertension, Hepatic steatosis OMIM:613877
Trichohepatoenteric Syndrome 2
Hepatomegaly, Colitis, Cirrhosis, Chronic hepatitis OMIM:614602
Leigh Syndrome
Hepatocellular necrosis OMIM:256000
Lichen Planopilaris
Neoplasm of the oral cavity, Hepatitis ORPHA:525
Fanconi Anemia, Complementation Group Q
Chromosome breakage, Biliary atresia OMIM:615272
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:255120
Congenital Bile Acid Synthesis Defect Type 4
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... ORPHA:79095
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Increased hepatic echo... OMIM:261680
Macrocephaly-Intellectual Disability-Autism Syndrome
Hurthle cell thyroid adenoma, Multiple lipomas, Hepatic steatosis, Thyroid carcinoma ORPHA:210548
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Pneumonia, Recurrent pneumonia, Hepatitis, Hepatosplenomegaly, Otitis m... ORPHA:169160
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis OMIM:201450
Macrophage Activation Syndrome
Hepatomegaly, Increased inflammatory response, Elevated circulating aspartate aminotransferase co... ORPHA:158061
Adult-Onset Still Disease
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Skin rash, Myocarditis, Splenomegaly, ... ORPHA:829
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Ulcerative colitis, Abnorm... ORPHA:562639
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Hepatomegaly, Fetal ascites OMIM:619462
Congenital Isolated Acth Deficiency
Hepatitis, Hypotension, Prolonged neonatal jaundice ORPHA:199296
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Cholelithiasis OMIM:194380
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:616433
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... OMIM:212140
Glycogen Storage Disease Ixb
Splenomegaly, Hepatomegaly, Increased hepatic glycogen content, Increased muscle glycogen content OMIM:261750
Combined Oxidative Phosphorylation Deficiency 19
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... OMIM:615595
Melioidosis
Shock, Foot osteomyelitis, Liver abscess, Pneumonia, Abnormality of the spleen, Osteoarthritis, H... ORPHA:31202
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Cardiac arrest, Pustule, Myocard... ORPHA:139402
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Elevated circulating aspartate aminotransfer... OMIM:610198
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... OMIM:615158
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Abnormal bleeding, Giant cell hepatitis, Elevated hepatic transaminase, Hepatic melanin-like lyso... OMIM:208085
Ddost-Cdg
Elevated hepatic transaminase, Hepatic steatosis ORPHA:300536
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Abnormal circulating enzyme concentration or activity, Congestive heart failure, Decreased liver ... ORPHA:70472
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hypertension, Hepatic steatosis OMIM:615238
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated hepatic transaminase, Hepatomegaly, Cardiomyopathy, Reduced carnitine O-palmitoyltransfe... ORPHA:228305
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Recurrent pneumonia, ... ORPHA:47
Autoimmune Polyendocrine Syndrome, Type Ii
Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Chronic mucocutaneous candidiasis, Keratoconjunc... OMIM:269200
Liver Failure, Infantile, Transient
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato... OMIM:613070
Bardet-Biedl Syndrome 19
Patent ductus arteriosus, Hepatic steatosis OMIM:615996
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Acute hepatitis, Decreased liver function, Hepatomegaly OMIM:238970
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Congestive heart failure, Cardio... ORPHA:26791
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Increased susceptibility to spontaneous sister chromatid exchange, Malar rash OMIM:618097
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly OMIM:609016
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating alanine aminotransferase concentration, Cholestasis, Prolonged prothrombin t... OMIM:614300
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hepatic periportal necrosis, Hepatic steatosis, Jaundice OMIM:231680
Primary Biliary Cholangitis
Orthostatic hypotension, Portal hypertension, Jaundice, Hepatitis, Biliary cirrhosis, Gastrointes... ORPHA:186
Dyskeratosis Congenita, Autosomal Dominant 1
Myelodysplasia, Hepatic necrosis, Interstitial pneumonitis, Squamous cell carcinoma of the skin, ... OMIM:127550
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Cardiac arrest, Ventricular tachycardia, Atrioventri... OMIM:212138
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Jaundice, Cholestatic liver di... OMIM:613404
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In... OMIM:613027
Systemic Primary Carnitine Deficiency
Elevated hepatic transaminase, Hepatomegaly ORPHA:158
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... OMIM:619849
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Hepatic steatosis, Hepatosplenomegaly OMIM:619013
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Abnormality of chromosome stability OMIM:600546
Bile Acid Conjugation Defect 1
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated c... OMIM:619232
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Cholangitis, Biliary tract abnormality, Chronic mucocutaneous candidiasis, Colit... OMIM:209920
Graft Versus Host Disease
Elevated hepatic transaminase, Tachycardia, Fasciitis, Myositis, Maculopapular exanthema, Pneumon... ORPHA:39812
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal lactate dehydrogenase level, Decreased live... ORPHA:42
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Hepatomegaly, Hepatic steatosis, Hypertension ORPHA:363400
Lig4 Syndrome
Hepatomegaly, Abnormality of chromosome stability, Telangiectasia of the skin, Lymphoma, Acute le... ORPHA:99812
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis OMIM:275630
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Hepatomegaly, Telangiectasia of the skin, Elevated circulating ala... OMIM:615381
Primary Sclerosing Cholangitis
Acute hepatic failure, Spider hemangioma, Uveitis, Hepatic fibrosis, Neoplasm of the gallbladder,... ORPHA:171
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Splenomegaly, Hepatitis, Chronic hepatitis, Sclerosing cholangitis, Cirrhosis, Chro... OMIM:308230
Citrullinemia, Type Ii, Neonatal-Onset
Elevated circulating aspartate aminotransferase concentration, Microvesicular hepatic steatosis, ... OMIM:605814
Cirrhosis, Familial
Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Hypertension, Cirrhosis... OMIM:215600
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholestasis, Jaundice... OMIM:617093
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi... OMIM:620010
Lipodystrophy, Familial Partial, Type 6
Hypertension, Hepatic steatosis OMIM:615980
Griscelli Syndrome
Splenomegaly, Hepatomegaly, Jaundice, Hepatitis ORPHA:381
Hyperbilirubinemia, Shunt, Primary
Splenomegaly, Hepatomegaly, Jaundice OMIM:237800
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Congestive heart failure, Dilate... OMIM:611126
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Congenital Enterovirus Infection
Abnormal bleeding, Skin rash, Myocarditis, Hepatitis, Cholestasis, Cardiomyopathy, Hypotension, H... ORPHA:292
Bloom Syndrome
Chromosome breakage, Abnormality of chromosome stability, Lymphoma, Bronchiectasis, Squamous cell... OMIM:210900
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Sudden cardiac death, Congestive heart fail... ORPHA:99901
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis ORPHA:369840
Congenital Bile Acid Synthesis Defect Type 1
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C... ORPHA:79301
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hepatic steatosis ORPHA:79085
Isolated Sedoheptulokinase Deficiency
Cholestasis, Cholestatic liver disease, Hepatitis, Portal hypertension ORPHA:440713
Cholestasis, Progressive Familial Intrahepatic, 4
Portal hypertension, Intrahepatic cholestasis, Cirrhosis, Hepatocellular carcinoma, Hepatic failure OMIM:615878
Biliary Atresia, Extrahepatic
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... OMIM:210500
Adrenomyodystrophy
Hepatic steatosis ORPHA:977
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Atopic dermatitis, Hepatosplenomegaly, Membranous nephropathy, C... OMIM:618999
Ebola Hemorrhagic Fever
Abnormal bleeding, Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Hepa... ORPHA:319218
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Abnormality of the liver ORPHA:1980
Aspergillosis
Sinusitis, Osteomyelitis, Pneumonia, Hematological neoplasm, Keratitis, Hepatitis, Bronchiectasis... ORPHA:1163
Interstitial Lung And Liver Disease
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:615486
Q Fever
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Osteomyelitis, Maculopapular exanthema... ORPHA:781
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Acute hepatic failure, Cholangitis, Portal hypertension, Hypersplenism, Hepatitis, Thyroiditis, H... ORPHA:228426
Acute Liver Failure
Abnormal bleeding, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Shock, Skin rash, ... ORPHA:90062
Legionnaires Disease
Pericarditis, Myocarditis, Jaundice, Splenomegaly, Hepatitis, Endocarditis, Hypotension, Arrhythm... ORPHA:549
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Hepatic fibrosis, Esophagitis, He... ORPHA:541423
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... OMIM:616278
Lipodystrophy, Familial Partial, Type 3
Hypertension, Hepatic steatosis, Cirrhosis OMIM:604367
Fanconi Anemia, Complementation Group D1
Acute myeloid leukemia, T-cell acute lymphoblastic leukemias, Chromosomal breakage induced by cro... OMIM:605724
Multiple Symmetric Lipomatosis
Hepatomegaly ORPHA:2398
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Glomerulonephritis, Eczema, Hepatitis, Arthritis, Erythroderma OMIM:304790
Chylomicron Retention Disease
Elevated hepatic transaminase, Increased hepatocellular lipid droplets, Hepatic steatosis ORPHA:71
Mulibrey Nanism
Hepatomegaly ORPHA:2576
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Gallbladder Disease 1
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ... OMIM:600803
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Hepatic steatosis, Pancreatitis ORPHA:435651
Cholestasis, Progressive Familial Intrahepatic, 3
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po... OMIM:602347
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... ORPHA:264580
Cyanosis, Transient Neonatal
Hepatomegaly, Jaundice OMIM:613977
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Jaundice, Elevated circulating aspartate aminotransferase concentration OMIM:614876
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholesta... OMIM:214900
Avian Influenza
Elevated hepatic transaminase, Pneumonia, Congestive heart failure, Hepatitis, Conjunctivitis, In... ORPHA:454836
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Astrocytoma, Lymphoma, Abnormal cardiovascular system physiolog... ORPHA:79086
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Congestive heart failure, Splenomegaly, Hypertension, Cirrhosis, Hypertrophic cardi... ORPHA:79083
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma morphology, Hyperecho... ORPHA:456312
Bacterial Toxic-Shock Syndrome
Shock, Tachycardia, Fasciitis, Sinusitis, Myositis, Pneumonia, Osteomyelitis, Skin rash, Myocardi... ORPHA:36234
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephri... ORPHA:91139
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Cardiomyopathy, Elevated circulating alkaline phosphatase concentration, Hepatic steatosis, Conge... ORPHA:52430
Alstrom Syndrome
Elevated hepatic transaminase, Hepatomegaly, Chronic active hepatitis, Congestive heart failure, ... OMIM:203800
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi... OMIM:619868
Galactose Epimerase Deficiency
Splenomegaly, Hepatomegaly, Jaundice ORPHA:79238
Galactose Mutarotase Deficiency
Hepatomegaly, Decreased liver function, Cholestasis ORPHA:570422
Immunodeficiency 47
Elevated hepatic transaminase, Hepatomegaly, Accessory spleen, Tricuspid regurgitation, Elevated ... OMIM:300972
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Cholestasis, Hepati... OMIM:610199
Rift Valley Fever
Abnormal bleeding, Elevated hepatic transaminase, Skin rash, Hematemesis, Jaundice, Retinal hemor... ORPHA:319251
Cholestasis, Benign Recurrent Intrahepatic, 2
Hepatomegaly, Jaundice, Intrahepatic cholestasis, Cholelithiasis OMIM:605479
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Portal hypertension, Hypersplenism, Splenomegaly, Hepatitis, Hashimoto thyroiditis OMIM:613385
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Viral hepatitis, Chronic gastritis, Liver abscess, Psoriasiform dermatitis, Cholangitis, Pneumoni... ORPHA:183675
Myasthenia Gravis
Myositis, Raynaud phenomenon, Hepatitis, Rheumatoid arthritis, Hashimoto thyroiditis ORPHA:589
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Chromosomal breakage induced by crosslinking agents OMIM:616435
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Splenomegaly, Fulminant hepatitis, Vasculitis, Lymphoma, Burkitt lymphoma, Hepatic ... OMIM:308240
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Splenomegaly, Congestive heart failure, Hypertrophic cardiomyopathy, Hepatic steato... ORPHA:2348
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Pyoderma, Conjunctivitis,... OMIM:307200
Dpm1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Hepatosplenomegaly, Hepatic fibrosis, Hepatic steatosis ORPHA:79322
Neutral Lipid Storage Disease With Ichthyosis
Elevated hepatic transaminase, Hepatomegaly, Micronodular cirrhosis, Cardiomyopathy, Increased in... ORPHA:98907
Dominant Beta-Thalassemia
Hypersplenism, High-output congestive heart failure, Jaundice, Dilated cardiomyopathy, Splenomega... ORPHA:231226
Hepatic Veno-Occlusive Disease
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Ascites ORPHA:890
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Hepatomegaly ORPHA:417
Congenital Generalized Lipodystrophy
Hepatomegaly, Congestive heart failure, Cirrhosis, Hypertrophic cardiomyopathy, Hepatic steatosis ORPHA:528
Transcobalamin Deficiency
Abnormality of chromosome stability ORPHA:859
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis OMIM:613313
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Hepatic steatosis, Decreased liver function, Cardiomyopathy OMIM:614922
Autoimmune Lymphoproliferative Syndrome
Hepatocellular carcinoma, Uveitis, Colitis, Thyroid carcinoma, Abnormal bleeding, Hepatomegaly, B... ORPHA:3261
Chronic Mucocutaneous Candidiasis
Cheilitis, Skin rash, Hepatitis ORPHA:1334
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice OMIM:243300
Immunodeficiency 42
Splenomegaly, Hepatomegaly OMIM:616622
Galactosemia Iii
Splenomegaly, Hepatomegaly, Jaundice OMIM:230350
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Hepatomegaly OMIM:603902
Fragile X Syndrome
Chronic otitis media, Folate-dependent fragile site at Xq28, Sinusitis, Otitis media ORPHA:908
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated hepatic transaminase, Macrovesicular hepatic steatosis, Cirrhosis ORPHA:298
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Hepatic steatosis ORPHA:435660
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Congestive heart failure, Jaundi... OMIM:617156
Immunodeficiency 48
Splenomegaly, Hepatomegaly OMIM:269840
Fanconi Anemia, Complementation Group S
Chromosome breakage, Ovarian carcinoma, Breast carcinoma, Ovarian neoplasm OMIM:617883
Hypereosinophilic Syndrome, Idiopathic
Splenomegaly, Hepatomegaly OMIM:607685
Mucopolysaccharidosis Type 7
Splenomegaly, Hepatitis ORPHA:584
Citrullinemia Type Ii
Elevated hepatic transaminase, Hepatomegaly, Hepatic fibrosis, Hepatocellular carcinoma, Hepatic ... ORPHA:247585
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Increased hepatic glycogen content ORPHA:293964
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Iridocyclitis, Hepatitis, Biliary cirrhosis, Thymoma, Chronic mucocutaneous c... ORPHA:227990
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Elevated hepatic transaminase, Myositis, Psoriasiform dermatitis, Osteomyelitis, Eczema, Pneumoni... ORPHA:37042
Microsporidiosis
Myositis, Sinusitis, Osteomyelitis, Cholangitis, Pneumonia, Keratitis, Myocarditis, Abnormality o... ORPHA:2552
Aicardi-Goutieres Syndrome 9
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Acute pancreatitis, Chilblains, Portal... OMIM:619487
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Abnormal circulating enzyme concentrati... ORPHA:348
Spondyloenchondrodysplasia
Enchondroma, Skin rash, Pneumonia, Raynaud phenomenon, Vasculitis, Hepatitis, Hypertension, Arthr... ORPHA:1855
Cardiomyopathy, Familial Restrictive, 6
Hepatomegaly, Ascites, Portal vein hypoplasia OMIM:619433
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Hepatic failure ORPHA:75234
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis OMIM:616719
Fanconi Anemia, Complementation Group J
Chromosomal breakage induced by crosslinking agents OMIM:609054
Progressive Familial Intrahepatic Cholestasis
Splenomegaly, Hepatomegaly, Jaundice, Cholestasis ORPHA:172
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Prolonged prothrombin time, Bile duct proliferation, Macrovesicula... OMIM:618329
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Skin rash, Acute otitis media, Chronic mucocutaneous candidiasis, Sclerosing cholangit... ORPHA:572
Erythroleukemia, Familial, Susceptibility To
Splenomegaly, Hepatomegaly OMIM:133180
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614924
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Elevated hepatic transaminase, Hepatomegaly, Hepatitis, Decreased liver function, Hepatic failure ORPHA:415
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Iridocyclitis, Hepatitis, Biliary cirrhosis, Thymoma, Chronic mucocutaneous c... ORPHA:227982
Isolated Polycystic Liver Disease
Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas ORPHA:2924
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Hematemesis, Splenomegaly, Va... OMIM:615846
Familial Chylomicronemia Syndrome
Acute pancreatitis, Pulmonary embolism, Perianal abscess, Jaundice, Hepatosplenomegaly, Recurrent... ORPHA:444490
Seckel Syndrome 10
Acute pancreatitis, Elevated circulating aspartate aminotransferase concentration, Congestive hea... OMIM:617253
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Cholestasis, Portal fibrosis, Hepatic fibrosis, Prolonged neona... OMIM:619377
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Chronic active hepatitis, Asplenia, Iridocyclitis, Chronic mucocutaneous cand... OMIM:240300
Portal Hypertension, Noncirrhotic, 2
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi... OMIM:619463
Monosomy 13Q34
Epistaxis, Hematochezia, Prolonged prothrombin time, Pulmonic stenosis, Hepatic steatosis ORPHA:96168
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Psoriasiform dermatitis, T-cell lymphoma, Enterocolitis, Hematochezia, Interface hepatitis OMIM:243150
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Microvesicular hepatic steatosis, Hepatosplenomegaly, Hepatocellular necrosis OMIM:618278
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Oropharyngeal squamous cell carcinoma, Inflammatory abnormality of the skin, Eczema, Congestive h... ORPHA:391487
Dysbetalipoproteinemia
Hepatomegaly, Acute pancreatitis, Angina pectoris, Gout, Hepatic steatosis ORPHA:412
Leptospirosis
Hepatomegaly, Pericarditis, Skin rash, First degree atrioventricular block, Jaundice, Retinal hem... ORPHA:509
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... OMIM:277900
Neutral Lipid Storage Myopathy
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Chronic pan... ORPHA:98908
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hepatic steatosis, Pancreatitis, Myocardial infarction OMIM:236200
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Hepatomegaly, Elevated hepatic transaminase, Tachycardia, Atrial fibrillat... OMIM:613327
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Heart block, Hepatic calcification, Renal tubular epithelial necrosis, Cardiomyopat... ORPHA:228308
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Cardiomyopathy, Hepatic steatosis ORPHA:445038
Mitochondrial Trifunctional Protein Deficiency
Tricuspid regurgitation, Congestive heart failure, Cholestasis, Cardiomyopathy, Mitral regurgitat... ORPHA:746
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis OMIM:210200
Relapsing Polychondritis
Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Hepatitis, Large vessel ... ORPHA:728
Diaphanospondylodysostosis
Nephroblastomatosis, Abnormal liver lobulation OMIM:608022
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Infectious encephalitis, Nephritis, He... ORPHA:73263
Kawasaki Disease
Pericarditis, Skin rash, Congestive heart failure, Jaundice, Vasculitis, Myocarditis, Hepatitis, ... ORPHA:2331
Idiopathic Hypereosinophilic Syndrome
Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Colitis, Myelodysplasia, Raynaud phenom... ORPHA:3260
Radial-Renal Syndrome
Chromosome breakage OMIM:179280
Fanconi-Bickel Syndrome
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic failure, Ele... ORPHA:2088
Amyloidosis, Familial Visceral
Splenomegaly, Hepatomegaly, Cholestasis OMIM:105200
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... OMIM:619662
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Hepatosplenomegaly, Cirrhosi... OMIM:616860
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Microvesicular hepatic steatosis, Splenomegaly, Macronodular cirr... OMIM:619418
Progeria-Short Stature-Pigmented Nevi Syndrome
Elevated hepatic transaminase, Neoplasm of the pancreas, Supraventricular arrhythmia, Neoplasm, H... ORPHA:2959
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Chromosome breakage, Eczema, Pancreatic steatosis, Hyperechogenic pancrea... OMIM:617052
T-Cell Immunodeficiency With Thymic Aplasia
Sinusitis, Pneumonia, Atypical or prolonged hepatitis, Thyroiditis, Chronic oral candidiasis, Chr... ORPHA:83471
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:608836
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of exocr... ORPHA:93111
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Chromosomal breakage induced by crosslinking agents OMIM:619060
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Hypertrophic cardiomyopathy, Diffuse hepatic steatosis, Decreased liver function ORPHA:436271
Fanconi Anemia, Complementation Group N
Nephroblastoma, Medulloblastoma, Neuroblastoma, Chromosomal breakage induced by crosslinking agents OMIM:610832
Cimdag Syndrome
Microvesicular hepatic steatosis, Cholelithiasis, Hepatomegaly OMIM:619273
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Biliary tract abnormality, Acholic sto... ORPHA:1414
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... OMIM:601847
Mccune-Albright Syndrome
Cutaneous myxoma, Hepatocellular adenoma, Hepatitis, Cholestasis, Breast carcinoma, Pancreatitis ORPHA:562
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Abnormal bleeding, Hepatomegaly, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Jaun... ORPHA:247598
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent pneumonia, Bronchiectasis, Pyoderma, ... OMIM:300755
Fanconi Anemia, Complementation Group O
Chromosome breakage OMIM:613390
Dubin-Johnson Syndrome
Hepatomegaly, Jaundice, Abnormality of the liver, Biliary tract abnormality ORPHA:234
Fragile X Syndrome
Folate-dependent fragile site at Xq28 OMIM:300624
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Mitral regurgitation, Hepatic steatosis, Arrhythmia ORPHA:254346
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, He... OMIM:235555
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Abnormal bleeding, Hepatomegaly, Abnormal circulating enzyme concentration or activity, Epistaxis... ORPHA:79259
Acute Disseminated Encephalomyelitis
Viral hepatitis, Herpes simplex encephalitis, Optic neuritis, Myelitis ORPHA:83597
Late-Onset Isolated Acth Deficiency
Orthostatic hypotension, Pituitary adenoma, Hepatitis, Hypotension, Hashimoto thyroiditis ORPHA:199299
Autoinflammation With Episodic Fever And Lymphadenopathy
Splenomegaly, Hepatomegaly OMIM:618852
Dilated Cardiomyopathy With Ataxia
Prolonged QT interval, Microvesicular hepatic steatosis, Dilated cardiomyopathy, Elevated hepatic... ORPHA:66634
3-Methylglutaconic Aciduria, Type Viib
Abnormal bleeding, Congestive heart failure, Recurrent pneumonia, Prolonged prothrombin time, Hep... OMIM:616271
Combined Oxidative Phosphorylation Deficiency 27
Microvesicular hepatic steatosis OMIM:616672
Combined Immunodeficiency-Enteropathy Spectrum
Psoriasiform dermatitis, Hepatitis, Abnormal ductus choledochus morphology, Hashimoto thyroiditis... ORPHA:436252
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Acne, Pituitary adenoma, Hypertension, Renal cell carcinoma, Bruising susceptibility, Hepatic ste... ORPHA:189427
Fructose Intolerance, Hereditary
Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Jaundice, Cirrhosis, He... OMIM:229600
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Splenomegaly, Hepatomegaly, Enlarged kidney OMIM:615285
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Cardiomyopathy, Prolonged prothrombin ... OMIM:212065
Postinfectious Vasculitis
Cerebral vasculitis, Viral hepatitis, Inflammatory abnormality of the skin, Palpable purpura, Mem... ORPHA:48435
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis ORPHA:59303
D-Bifunctional Protein Deficiency
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Splenomegal... OMIM:261515
Budd-Chiari Syndrome
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... ORPHA:131
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated hepatic transaminase, Cholangitis, Microvesicular hepatic steatosis, Cholestasis, Tubulo... OMIM:124000
Mast Cell Sarcoma
Splenomegaly, Hepatomegaly ORPHA:66661
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Hypertrophic cardiomyopathy, Decreased liver function, Increased intramyocellular l... OMIM:220110
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Atrophic gastritis, Necrotizing enterocolitis, Elevated circulating aspartate amino... OMIM:619573
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatomegaly, Abnormal atrioventricular conduction, Supraventricular arrhythmia, Congestive heart... ORPHA:280365
Lysosomal Acid Lipase Deficiency
Elevated hepatic transaminase, Fatal liver failure in infancy, Hypersplenism, Microvesicular hepa... ORPHA:275761
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Esophagitis OMIM:615356
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Elevated circulating alkaline phosphata... ORPHA:263455
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Hepatic steatosis, Exocrine pancreatic insuf... OMIM:616263
Propionic Acidemia
Hepatomegaly ORPHA:35
Mosaic Trisomy 9
Asplenia, Patent ductus arteriosus, Abnormal liver lobulation ORPHA:99776
Klatskin Tumor
Hepatomegaly, Jaundice, Cholangiocarcinoma, Extrahepatic cholestasis ORPHA:99978
Familial Adenomatous Polyposis 1
Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medulloblastoma, Desmoid tumor... OMIM:175100
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Congestive heart failure, Patent ductus arteriosus, Splenomegaly, Recurrent pneumon... OMIM:617303
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Cardiac arrest, Jaundice, Dilate... ORPHA:20
Lipodystrophy, Congenital Generalized, Type 1
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Splenomegaly, Cardiomyopathy, Ci... OMIM:608594
Primary Sjögren Syndrome
Myositis, Chronic active hepatitis, Lymphoproliferative disorder, Glomerulonephritis, Lymphocytic... ORPHA:289390
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Elevated c... OMIM:619525
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly OMIM:306000
Familial Adenomatous Polyposis
Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Angiofibromas, Papillary thyroid carcinoma, Ad... ORPHA:733
Immunodeficiency 82 With Systemic Inflammation
Osteomyelitis, Skin rash, B-cell lymphoma, Pneumonia, Recurrent skin infections, Gastritis, Splen... OMIM:619381
Meckel Syndrome, Type 3
Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Malformation of the hepatic ductal plate OMIM:607361
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... OMIM:211600
Cartilage-Hair Hypoplasia
Hepatomegaly, Abnormality of chromosome stability, Heart block, Abnormality of the pancreas, Card... ORPHA:175
Fanconi Anemia, Complementation Group V
Chromosomal breakage induced by crosslinking agents OMIM:617243
Abetalipoproteinemia
Abnormal bleeding, Elevated hepatic transaminase, Hepatomegaly, Congestive heart failure, Prolong... ORPHA:14
Fanconi Anemia, Complementation Group D2
Patent ductus arteriosus, Leukemia, Deficient excision of UV-induced pyrimidine dimers in DNA, An... OMIM:227646
Gardner Syndrome
Neoplasm of the pancreas, Astrocytoma, Brain neoplasm, Adrenocortical carcinoma, Pilomatrixoma, M... ORPHA:79665
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato... OMIM:203700
Lipodystrophy, Congenital Generalized, Type 2
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Splenomegaly, Cirrhosis, Hypertr... OMIM:269700
Gaucher Disease
Abnormal bleeding, Hepatomegaly, Osteomyelitis, Splenomegaly, Osteoarthritis, Hepatitis, Gingival... ORPHA:355
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Acute pancreatitis, Hepatic steatosis, Hypertension OMIM:151660
Fanconi Anemia, Complementation Group U
Chromosome breakage, Patent ductus arteriosus OMIM:617247
Fish-Eye Disease
Splenomegaly, Hepatomegaly ORPHA:79292
Combined Oxidative Phosphorylation Deficiency 14
Increased hepatic glycogen content, Copper accumulation in liver, Elevated hepatic iron concentra... OMIM:614946
Dyskeratosis Congenita, Autosomal Recessive 8
Chromosomal breakage induced by crosslinking agents, Inflammation of the large intestine, Pancoli... OMIM:620133
Sarcoidosis
Hepatomegaly, Abnormal cardiac ventricular function, Maculopapular exanthema, Portal hypertension... ORPHA:797
Fanconi Anemia, Complementation Group P
Chromosomal breakage induced by crosslinking agents, Squamous cell carcinoma OMIM:613951
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... ORPHA:17
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Folate-dependent fragile site at Xq28 ORPHA:85327
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... ORPHA:309854
Turcot Syndrome With Polyposis
Glioblastoma multiforme, Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Glioma, Pilomatrixoma... ORPHA:99818
Fanconi Anemia, Complementation Group B
Abnormality of chromosome stability, Patent ductus arteriosus OMIM:300514
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... ORPHA:53035
Lujo Hemorrhagic Fever
Elevated hepatic transaminase, Shock, Increased circulating lactate dehydrogenase concentration, ... ORPHA:319213
Arima Syndrome
Hepatomegaly, Hypertension, Hepatic fibrosis, Cirrhosis, Hepatic steatosis OMIM:243910
Liver Disease, Severe Congenital
Chronic gastritis, Biliary hyperplasia, Abnormal left ventricular function, Elevated hepatic iron... OMIM:619991
Fanconi Anemia, Complementation Group E
Deficient excision of UV-induced pyrimidine dimers in DNA, Leukemia, Bruising susceptibility, Chr... OMIM:600901
Pearson Syndrome
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Cardiac conduction abnormality,... ORPHA:699
Nijmegen Breakage Syndrome
Abnormality of chromosome stability, Glioma, B-cell lymphoma, Rhabdomyosarcoma, Lymphoma, Recurre... ORPHA:647
Hyperzincemia With Functional Zinc Depletion
Hepatomegaly OMIM:601979
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... OMIM:607626
Fanconi Anemia, Complementation Group A
Deficient excision of UV-induced pyrimidine dimers in DNA, Leukemia, Bruising susceptibility, Chr... OMIM:227650
Occipital Horn Syndrome
Jaundice, Hepatitis, Cholestasis, Esophagitis, Bruising susceptibility, Exostoses ORPHA:198
Intellectual Developmental Disorder, Autosomal Dominant 68
Patent ductus arteriosus, Hepatic steatosis OMIM:619934
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated hepatic transaminase, Portal hypertension, Cholestasis, Bile duct proliferation, Decreas... OMIM:613658
Fanconi Anemia, Complementation Group I
Chromosomal breakage induced by crosslinking agents OMIM:609053
Icf Syndrome
Abnormality of chromosome stability ORPHA:2268
Fanconi Anemia
Abnormality of chromosome stability, Myelodysplasia, Patent ductus arteriosus, Abnormality of the... ORPHA:84
Riddle Syndrome
Conjunctival telangiectasia, Pneumonia, Intraventricular hemorrhage, Recurrent pneumonia, Telangi... ORPHA:420741
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Increased hepatic glycogen content, Congestive heart failure OMIM:619259
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ... OMIM:615415
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Cholangiocarcinoma, Cholangitis, Portal hypertension, Biliary hyperp... ORPHA:731
Fanconi Anemia, Complementation Group C
Deficient excision of UV-induced pyrimidine dimers in DNA, Leukemia, Bruising susceptibility, Chr... OMIM:227645
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,... OMIM:208540
Aromatase Deficiency
Hepatic steatosis ORPHA:91
Fanconi Anemia, Complementation Group R
Chromosomal breakage induced by crosslinking agents OMIM:617244
Fanconi Anemia, Complementation Group F
Patent ductus arteriosus, Pneumonia, Chromosomal breakage induced by crosslinking agents OMIM:603467
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Elevated hepatic transaminase, Hepatomegaly, Nodular regenerative hyperplasia of liver, Microvesi... ORPHA:404454
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Hepatomegaly OMIM:620296
Glycogen Storage Disease Ic
Hepatomegaly, Stomatitis, Spider hemangioma, Chronic pancreatitis, Gout, Hypertension, Inflammati... OMIM:232240
Pyruvate Kinase Deficiency Of Red Cells
Hepatomegaly, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis OMIM:266200
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hepatomegaly, Seborrheic dermatitis, Microvesicular hepatic steatosis, Patent ductus arteriosus, ... OMIM:300868
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholest... ORPHA:30391
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Hepatomegaly, Jaundice, Prolonged neonatal jaundice OMIM:185000
Fanconi Anemia, Complementation Group L
Chromosome breakage, Chromosomal breakage induced by crosslinking agents OMIM:614083
Apolipoprotein C-Ii Deficiency
Splenomegaly, Hepatomegaly, Pancreatitis OMIM:207750
Caroli Syndrome
Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port... ORPHA:480520
Meningioma
Cerebral hemorrhage, Neoplasm of the anterior pituitary, Neurofibroma, Syncope, Chromosomal break... ORPHA:2495
Turner Syndrome Due To Structural X Chromosome Anomalies
Prolonged QT interval, Elevated hepatic transaminase, Myocardial infarction, Biliary cirrhosis, T... ORPHA:99413
Turner Syndrome
Prolonged QT interval, Elevated hepatic transaminase, Myocardial infarction, Biliary cirrhosis, T... ORPHA:881
Mosaic Monosomy X
Prolonged QT interval, Elevated hepatic transaminase, Myocardial infarction, Biliary cirrhosis, T... ORPHA:99228
Monosomy X
Prolonged QT interval, Elevated hepatic transaminase, Myocardial infarction, Biliary cirrhosis, T... ORPHA:99226
Atypical Werner Syndrome
Renal neoplasm, Telangiectasia of the skin, Congestive heart failure, Ovarian neoplasm, Neoplasm ... ORPHA:79474
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f... OMIM:263200
Smith-Lemli-Opitz Syndrome
Hepatomegaly, Eczema, Facial capillary hemangioma, Splenomegaly, Patent ductus arteriosus, Hypert... OMIM:270400
Dehydrated Hereditary Stomatocytosis 2
Splenomegaly, Hepatomegaly, Jaundice OMIM:616689
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Mitral regurgitation, Macro... OMIM:619127
Homozygous Familial Hypercholesterolemia
Angina pectoris, Sudden cardiac death, Myocardial infarction, Heart murmur, Abnormal left ventric... ORPHA:391665
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hepatic steatosis OMIM:619321
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Aortic regurgitation, Elevated hepatic transaminase, Osteomyelitis, Congestive heart failure, Jau... OMIM:619475
1P36 Deletion Syndrome
Abnormality of the spleen, Patent ductus arteriosus, Dilated cardiomyopathy, Telangiectasia, Abno... ORPHA:1606
Revesz Syndrome
Abnormality of chromosome stability OMIM:268130
Ogden Syndrome
Eczema, Microvesicular hepatic steatosis, Jaundice, Patent ductus arteriosus, Ventricular tachyca... OMIM:300855
Alström Syndrome
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Otitis media, Hepatic steatosis, Hepa... ORPHA:64
Digeorge Syndrome
Acne, Seborrheic dermatitis, Splenomegaly, Patent ductus arteriosus, Recurrent pneumonia, Recurre... OMIM:188400
Pmm2-Cdg
Elevated hepatic transaminase, Pericarditis, Angina pectoris, Abnormal liver parenchyma morpholog... ORPHA:79318
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Hypertension, Mitral regurgitation, Hypertrophic cardiomyopathy... OMIM:220111
Hyperlipoproteinemia, Type Id
Splenomegaly, Hepatomegaly, Recurrent pancreatitis, Pancreatitis OMIM:615947
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Portal hypertension, Atopic dermatitis, Cholestasis, Hepatosplenomegaly, Ischemic stroke, Recurre... OMIM:619503
Wiedemann-Rautenstrauch Syndrome
Recurrent skin infections, Synovitis, Pulmonic stenosis, Recurrent otitis media, Hepatic steatosis ORPHA:3455

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 Krt18

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 Krt18.

No publications found that use IMPC mice or data for Krt18.

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