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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
Biliary cirrhosis, Micronodular cirrhosis, Cirrhosis, Pulmonary arterial hypertension, Jaundice, ... 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
Hepatomegaly, Elevated circulating hepatic transaminase concentration OMIM:606664
Hepatocellular Carcinoma
Micronodular cirrhosis, Subacute progressive viral hepatitis, Hepatocellular carcinoma OMIM:114550
Combined Oxidative Phosphorylation Deficiency 16
Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase concentration, Eleva... 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
Hashimoto thyroiditis, Hepatitis OMIM:613783
Hepatitis Delta
Hepatic failure, Abnormal bleeding, Hepatitis, Bruising susceptibility, Elevated circulating aspa... ORPHA:402823
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transami... OMIM:614480
Polycystic Liver Disease 2 With Or Without Kidney Cysts
Hepatomegaly, Hepatic cysts OMIM:617004
Nphp3-Related Meckel-Like Syndrome
Abnormal liver parenchyma morphology, Abnormality of the pancreas, Abnormal biliary tract morphology ORPHA:3032
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Hepatic steatosis OMIM:261650
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated circulating hepatic transaminase concentration, Hepatic steatosis OMIM:618400
Hemochromatosis, Neonatal
Hepatic fibrosis, Hepatic failure, Abnormal bleeding, Hepatocellular necrosis, Cholestasis, Cirrh... OMIM:231100
Patent Ductus Venosus
Persistent patent ductus venosus, Congenital portosystemic venous shunt, Hepatic steatosis, Decre... OMIM:601466
Congenital Disorder Of Glycosylation, Type Iip
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Decreased liver funct... OMIM:616829
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Complement Component 4B Deficiency
Recurrent otitis media, Recurrent pneumonia, Recurrent sinusitis, Chronic active hepatitis OMIM:614379
Pediatric Hepatocellular Carcinoma
Portal vein thrombosis, Hepatic fibrosis, Hepatic necrosis, Hepatomegaly ORPHA:33402
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Micronodular cirrhosis, Hepatic periporta... ORPHA:139507
Cholestasis, Progressive Familial Intrahepatic, 11
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619874
Diarrhea 13
Elevated circulating hepatic transaminase concentration, Hepatic steatosis OMIM:620357
Galactosemia Iv
Hepatomegaly, Prolonged neonatal jaundice OMIM:618881
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hepatic necrosis, Fulminant hepatic failure,... OMIM:231530
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Hepatic steatosis, Copper accumulation in liver ORPHA:209919
Congenital Disorder Of Glycosylation, Type Iir
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... OMIM:301045
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hematochezia, Hepatitis, El... OMIM:613812
Carcinoid Syndrome
Elevated circulating hepatic transaminase concentration, Right ventricular failure, Tricuspid reg... ORPHA:100093
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
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Portal inflammation, Ballooning hepat... OMIM:603471
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Hepatitis, Splenomegaly, Erythema nodosum, Hep... OMIM:300635
Congenital Macroglossia
Abnormal hepatic glycogen storage, Neurofibroma ORPHA:2430
Alpha-1-Antitrypsin Deficiency
Hepatic failure, Hepatitis, Cholestasis, Cirrhosis, Hepatomegaly, Jaundice, Panniculitis, Bronchi... ORPHA:60
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circulating hepatic tran... ORPHA:64743
Hepatitis, Fulminant Viral, Susceptibility To
Gingival bleeding, Hepatic failure, Elevated circulating hepatic transaminase concentration, Hash... OMIM:618549
Glycogen Storage Disease Vi
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased hepatic glycogen... OMIM:232700
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:607765
Wilson Disease
Elevated circulating hepatic transaminase concentration, Hepatitis, Bruising susceptibility, Acut... ORPHA:905
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Elevated circulating aspartate aminotransferase concentration, Hepatic ... OMIM:619048
Bile Acid Synthesis Defect, Congenital, 4
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:214950
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis ORPHA:436182
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Spider hema... ORPHA:2137
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Increased hepatic glycogen content ORPHA:293964
Obesity And Hypopigmentation
Hepatic steatosis OMIM:620195
Morbid Obesity And Spermatogenic Failure
Myocardial infarction, Hypertension, Hepatic steatosis, Congestive heart failure OMIM:615703
Hemochromatosis, Type 4
Cardiomyopathy, Hepatic steatosis, Arrhythmia, Cirrhosis, Osteoarthritis, Hepatomegaly OMIM:606069
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Pancreatitis, Hypertension, Hepatic steatosis ORPHA:79084
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy, Hepatic steatosis, Cardiomyopathy OMIM:615119
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertension, Splen... OMIM:617068
Immunodeficiency 56
Hepatic failure, Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic hepati... OMIM:615207
Immunodeficiency 54
Hepatomegaly, Chromosome breakage, Lymphoproliferative disorder, Splenomegaly OMIM:609981
Peroxisomal Acyl-Coa Oxidase Deficiency
Elevated circulating hepatic transaminase concentration, Reduced circulating acyl-CoA oxidase act... OMIM:264470
Medullary Thyroid Carcinoma
Pheochromocytoma, Neoplasm of the skeletal system, Medullary thyroid carcinoma, Abnormal liver pa... ORPHA:1332
Tyrosinemia Type 1
Acute hepatic failure, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma ORPHA:882
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I... ORPHA:79303
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Hepatic steatosis, Elevated circulating alanine aminotransferase concentr... OMIM:618805
Combined Oxidative Phosphorylation Deficiency 9
Elevated gamma-glutamyltransferase level, Hypertrophic cardiomyopathy, Elevated circulating aspar... OMIM:614582
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Hepatitis ORPHA:363523
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hep... OMIM:615438
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Cholestasis, Hepatic steatosis, Cholesterol gallstones, Macro... ORPHA:209902
Gracile Syndrome
Cholestasis, Cirrhosis, Hepatic steatosis, Elevated hepatic iron concentration ORPHA:53693
Fetal Cytomegalovirus Syndrome
Elevated circulating hepatic transaminase concentration, Hepatitis, Retinal hemorrhage, Petechiae... ORPHA:294
Porphyria Cutanea Tarda
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation... ORPHA:101330
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis OMIM:615918
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... OMIM:600649
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Depletion of mitochondrial DNA in liver, Cholestasis, Elevated circulating aspartate aminotransfe... OMIM:618528
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hypertension, Hepatic steatosis ORPHA:280356
Infantile Liver Failure Syndrome 3
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ... OMIM:618641
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Periportal fibrosis, Elevated gamma... OMIM:278000
N Syndrome
Leukemia, Abnormality of chromosome stability, Neoplasm OMIM:310465
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hepatic failure, Hepatic steatosis OMIM:617872
Lipodystrophy, Partial, Acquired, Susceptibility To
Hepatic steatosis, Membranoproliferative glomerulonephritis OMIM:608709
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Hepatocellular necrosis, Hypertrophic cardiomyopathy, Reduced left ventricul... OMIM:201475
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatic steatosis ORPHA:369840
Acquired Partial Lipodystrophy
Hepatic steatosis ORPHA:79087
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... OMIM:616828
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Short Chain Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Cardiomyopathy ORPHA:26792
Mitochondrial Complex I Deficiency, Nuclear Type 11
Congestive heart failure, Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, Hepatomega... OMIM:618234
Cryoglobulinemic Vasculitis
Vasculitis, Gastrointestinal hemorrhage, Abnormality of the liver, Petechiae, Splenomegaly, Kerat... ORPHA:91138
Combined Oxidative Phosphorylation Deficiency 52
Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase concentration, Hepat... OMIM:619386
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Splenomegaly OMIM:606445
Hemoglobin H Disease
Hepatomegaly, Splenomegaly OMIM:613978
Beta-Thalassemia
Cholelithiasis, Hepatitis, Hypertrophic cardiomyopathy, Splenomegaly, Hepatomegaly ORPHA:848
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, Elevated circulati... OMIM:251880
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Congenital Disorder Of Glycosylation, Type Iih
Elevated serum transaminases during infections, Elevated circulating aspartate aminotransferase c... OMIM:611182
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Splenomegaly ORPHA:46532
Ataxia-Telangiectasia
Elevated circulating hepatic transaminase concentration, Abnormality of chromosome stability, Neo... ORPHA:100
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Acute hepatic fa... ORPHA:71212
Autosomal Agammaglobulinemia
Verrucae, Bronchiectasis, Hepatitis, Osteomyelitis, Skin rash, Arthritis, Sinusitis, Conjunctivit... ORPHA:33110
Fanconi Anemia, Complementation Group G
Leukemia, Abnormality of chromosome stability, Myelodysplasia OMIM:614082
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hyper... ORPHA:369
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Aborted sudden cardiac death, Elevated circulating hepatic transaminase... OMIM:614921
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hepatic steatosis OMIM:612526
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... ORPHA:567983
Macrocephaly-Intellectual Disability-Autism Syndrome
Thyroid carcinoma, Intestinal polyposis, Hepatic steatosis, Multiple lipomas, Hurthle cell thyroi... ORPHA:210548
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatic failure, Increased hepatic echogenicity, Hepatic steatosis, Elevated circulating alanine ... OMIM:261680
Trichohepatoenteric Syndrome 2
Hepatomegaly, Colitis, Cirrhosis, Chronic hepatitis OMIM:614602
Fanconi Anemia, Complementation Group Q
Chromosome breakage, Biliary atresia OMIM:615272
Congenital Isolated Acth Deficiency
Prolonged neonatal jaundice, Hypotension, Hepatitis ORPHA:199296
Lipodystrophy, Familial Partial, Type 4
Hypertension, Hepatic steatosis OMIM:613877
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Glycogen Storage Disease Ixb
Splenomegaly, Increased hepatic glycogen content, Hepatomegaly, Reduced hepatic phosphorylase kin... OMIM:261750
Congenital Bile Acid Synthesis Defect Type 4
Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Elevated circulating hepatic tra... ORPHA:79095
Lichen Planopilaris
Hepatitis, Neoplasm of the oral cavity ORPHA:525
Leigh Syndrome, Nuclear
Hepatocellular necrosis OMIM:256000
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Elevated gamma-glutamyltransferase level, Inflammation of the large in... ORPHA:562639
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Fetal ascites, Splenomegaly OMIM:619462
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Reduced... OMIM:201450
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatitis, Splenomegaly, Hepatomegaly, Jaundice OMIM:194380
Immunodeficiency 40
Focal active colitis, Recurrent pneumonia, Recurrent otitis media, Elevated circulating aspartate... OMIM:616433
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Pneumonia, Recurrent pneumonia, Hepatitis, Hepatosplenomegaly, Otitis media, Erythroderma, Chroni... ORPHA:169160
Bile Acid Malabsorption, Primary, 2
Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating aspartate ami... OMIM:619481
Melioidosis
Pneumonia, Hepatitis, Foot osteomyelitis, Cutaneous abscess, Shock, Abnormality of the spleen, Pa... ORPHA:31202
Macrophage Activation Syndrome
Increased circulating lactate dehydrogenase concentration, Hepatitis, Decreased liver function, E... ORPHA:158061
Drug Reaction With Eosinophilia And Systemic Symptoms
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Inters... ORPHA:139402
Carnitine-Acylcarnitine Translocase Deficiency
Reduced tissue carnitine-acylcarnitine translocase activity, Hypotension, Elevated circulating he... OMIM:212138
Combined Oxidative Phosphorylation Deficiency 19
Elevated gamma-glutamyltransferase level, Elevated circulating aspartate aminotransferase concent... OMIM:615595
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Elevated gamma-glutamyltransferase level, Hepatic failure, Micronodular cirrhosis, Hepatocellular... OMIM:256810
3-Methylglutaconic Aciduria, Type V
Dilated cardiomyopathy, Congestive heart failure, Elevated circulating aspartate aminotransferase... OMIM:610198
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased hepatic glycogen... OMIM:613027
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Elevated circulating aspar... OMIM:212140
Ddost-Cdg
Elevated circulating hepatic transaminase concentration, Hepatic steatosis ORPHA:300536
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Giant cell hepatitis, Elevated gamma-glutamyltransferase level, Elevat... OMIM:208085
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Hepatitis, Chronic mucocutaneous candidiasis, Exocrine pancreatic insufficiency, Keratoc... OMIM:269200
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Decreased liver function, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal circula... ORPHA:70472
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatic failure, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Hepatic... ORPHA:228305
Liver Failure, Infantile, Transient
Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Microvesicular he... OMIM:613070
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hypertension, Hepatic steatosis OMIM:615238
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:615158
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatomegaly, Acute hepatitis, Decreased liver function OMIM:238970
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatosplenomegaly, Elevated circulating hepatic transaminase concentration, Hepatic steatosis OMIM:619013
X-Linked Agammaglobulinemia
Recurrent pneumonia, Hepatitis, Osteomyelitis, Neoplasm, Skin rash, Recurrent cutaneous abscess f... ORPHA:47
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... OMIM:605911
Bardet-Biedl Syndrome 19
Patent ductus arteriosus, Hepatic steatosis OMIM:615996
Primary Sclerosing Cholangitis
Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho... ORPHA:171
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly OMIM:609016
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Malar rash, Increased susceptibility to spontaneous sister chromatid exchange OMIM:618097
Hypermethioninemia Due To Adenosine Kinase Deficiency
Portal fibrosis, Cholestasis, Hepatic steatosis, Elevated circulating alanine aminotransferase co... OMIM:614300
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen... OMIM:613404
Mhc Class Ii Deficiency 1
Chronic mucocutaneous candidiasis, Infectious encephalitis, Biliary tract abnormality, Colitis, C... OMIM:209920
Systemic Primary Carnitine Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration ORPHA:158
Cirrhosis, Familial
Biliary cirrhosis, Micronodular cirrhosis, Cirrhosis, Pulmonary arterial hypertension, Jaundice, ... OMIM:215600
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Abnormality of chromosome stability OMIM:600546
Cholestasis, Progressive Familial Intrahepatic, 9
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... OMIM:619849
Lig4 Syndrome
Acute leukemia, Abnormality of chromosome stability, Lymphoma, Telangiectasia of the skin, Hepato... ORPHA:99812
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Decreased liver function, Abnormal circu... ORPHA:42
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Intrahepatic cholestasis, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Decreased l... OMIM:617093
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Cirrhosis, Hypertension, Hepatic steatosis ORPHA:363400
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Telangiectasia of the... OMIM:615381
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis OMIM:275630
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran... OMIM:255120
Bile Acid Conjugation Defect 1
Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Elevated circulat... OMIM:619232
Citrullinemia, Type Ii, Neonatal-Onset
Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Portal fibrosis, Elevated cir... OMIM:605814
Immunodeficiency With Hyper-Igm, Type 1
Hepatitis, Splenomegaly, Sclerosing cholangitis, Enteroviral encephalitis, Cirrhosis, Chronic hep... OMIM:308230
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... ORPHA:26791
Graft Versus Host Disease
Pneumonia, Elevated circulating hepatic transaminase concentration, Inflammatory abnormality of t... ORPHA:39812
Dyskeratosis Congenita, Autosomal Dominant 1
Budd-Chiari syndrome, Squamous cell carcinoma of the skin, Hepatic necrosis, Interstitial pneumon... OMIM:127550
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Jaundice, Hepatic steatosis, Hepatic periportal necrosis OMIM:231680
Lipodystrophy, Familial Partial, Type 6
Hypertension, Hepatic steatosis OMIM:615980
Griscelli Syndrome
Hepatomegaly, Jaundice, Hepatitis, Splenomegaly ORPHA:381
Cholestasis, Progressive Familial Intrahepatic, 12
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevate... OMIM:620010
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hepatic failure, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration,... OMIM:611126
Aspergillosis
Pneumonia, Keratitis, Hepatitis, Osteomyelitis, Infectious encephalitis, Hematological neoplasm, ... ORPHA:1163
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Jaundice, Splenomegaly OMIM:237800
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... ORPHA:99901
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Interstitial Lung And Liver Disease
Hepatic fibrosis, Hepatic failure, Elevated gamma-glutamyltransferase level, Cholestasis, Elevate... OMIM:615486
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Hepatitis, Acute hepatic failure, Hepatosplenomegaly, Hypersplenism, Portal hypertension, Cirrhos... ORPHA:228426
Bloom Syndrome
Facial telangiectasia in butterfly midface distribution, Chromosome breakage, Abnormality of chro... OMIM:210900
Congenital Bile Acid Synthesis Defect Type 1
Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple... ORPHA:79301
Congenital Enterovirus Infection
Hypotension, Hepatic failure, Abnormal bleeding, Hepatitis, Cardiomyopathy, Cholestasis, Skin ras... ORPHA:292
Cholestasis, Progressive Familial Intrahepatic, 4
Intrahepatic cholestasis, Hepatic failure, Portal hypertension, Cirrhosis, Hepatocellular carcinoma OMIM:615878
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega... OMIM:616217
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Hepatosplenomegaly, Hepatic cysts, Colonic eosinophilia, Membranous nephropath... OMIM:618999
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Abnormal bleeding, Hepatitis, Melena, Maculopapular exanthema, Acute... ORPHA:319218
Isolated Sedoheptulokinase Deficiency
Cholestasis, Portal hypertension, Hepatitis, Cholestatic liver disease ORPHA:440713
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hepatic steatosis ORPHA:79085
Q Fever
Pneumonia, Vasculitis, Elevated circulating hepatic transaminase concentration, Hepatitis, Osteom... ORPHA:781
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole... ORPHA:541423
Adrenomyodystrophy
Hepatic steatosis ORPHA:977
Biliary Atresia, Extrahepatic
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Atretic gallbladder, Ci... OMIM:210500
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Abnormality of the liver ORPHA:1980
Primary Biliary Cholangitis
Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Elevated gamma-glutamyltransferase level, H... ORPHA:186
Chylomicron Retention Disease
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Increased hepatocellu... ORPHA:71
Legionnaires Disease
Hypotension, Hepatitis, Splenomegaly, Infectious encephalitis, Arrhythmia, Pancreatitis, Myocardi... ORPHA:549
Acute Liver Failure
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Hypotension... ORPHA:90062
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Hypertension, Hepatic steatosis OMIM:604367
Adult-Onset Still Disease
Elevated circulating hepatic transaminase concentration, Hepatitis, Interstitial pneumonitis, Spl... ORPHA:829
Fanconi Anemia, Complementation Group D1
Acute myeloid leukemia, T-cell acute lymphoblastic leukemias, Chromosomal breakage induced by cro... OMIM:605724
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta... OMIM:616278
Gallbladder Disease 1
Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal... OMIM:600803
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Pancreatitis, Hepatic steatosis ORPHA:435651
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Portal inflamm... OMIM:602347
Avian Influenza
Pneumonia, Myelitis, Elevated circulating hepatic transaminase concentration, Increased circulati... ORPHA:454836
Cholestasis-Lymphedema Syndrome
Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple... OMIM:214900
Multiple Symmetric Lipomatosis
Hepatomegaly ORPHA:2398
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Cardi... ORPHA:264580
Mulibrey Nanism
Hepatomegaly ORPHA:2576
Cyanosis, Transient Neonatal
Hepatomegaly, Jaundice OMIM:613977
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczematoid dermatitis, Hepatitis, Erythroderma, Glomerulonephritis, Arthritis OMIM:304790
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice OMIM:614876
Acquired Generalized Lipodystrophy
Acute pancreatitis, Lymphoma, Cardiomyopathy, Abnormal cardiovascular system physiology, Hepatic ... ORPHA:79086
Wolman Disease
Acute hepatic failure, Hepatomegaly, Splenomegaly OMIM:620151
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Cholestasis, Asci... OMIM:617394
Pparg-Related Familial Partial Lipodystrophy
Congestive heart failure, Hypertrophic cardiomyopathy, Hepatic steatosis, Splenomegaly, Cirrhosis... ORPHA:79083
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Abnormal liver parenchyma morphology,... ORPHA:456312
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatitis, Hypersplenism, Portal hypertension, Splenomegaly, Hashimoto thyroiditis, Hepatomegaly OMIM:613385
Immunodeficiency 47
Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans... OMIM:300972
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Portal hypertension, Splenic cys... OMIM:610199
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Cholestasis, Progressive Familial Intrahepatic, 10
Portal fibrosis, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Ele... OMIM:619868
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Cardiomyopathy, Hepatic steatosis, Elevated circulating alkaline phosphatase concentration, Conge... ORPHA:52430
Rift Valley Fever
Gingival bleeding, Elevated circulating hepatic transaminase concentration, Abnormal bleeding, He... ORPHA:319251
Neutral Lipid Storage Disease With Ichthyosis
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Cardiomyopathy, ... ORPHA:98907
Bacterial Toxic-Shock Syndrome
Pneumonia, Hypotension, Septic arthritis, Hepatitis, Fasciitis, Shock, Osteomyelitis, Skin rash, ... ORPHA:36234
Galactose Mutarotase Deficiency
Cholestasis, Hepatomegaly, Decreased liver function ORPHA:570422
Simple Cryoglobulinemia
Vasculitis, Monoclonal immunoglobulin M proteinemia, Gastrointestinal hemorrhage, Nephritis, Cong... ORPHA:91139
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Allergic rhinitis, Pneumonia, Recurrent pneumonia, Rheumatoid arthritis, Bronchiectasis, Atopic d... ORPHA:183675
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Chromosomal breakage induced by crosslinking agents OMIM:616435
Cardiomyopathy, Familial Restrictive, 6
Ascites, Hepatomegaly, Portal vein hypoplasia, Hepatic artery hyperplasia OMIM:619433
Dpm1-Cdg
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, He... ORPHA:79322
Cholestasis, Benign Recurrent Intrahepatic, 2
Hepatomegaly, Intrahepatic cholestasis, Cholelithiasis, Jaundice OMIM:605479
Dominant Beta-Thalassemia
Hepatic fibrosis, Dilated cardiomyopathy, Hepatosplenomegaly, Hypersplenism, High-output congesti... ORPHA:231226
Transcobalamin Deficiency
Abnormality of chromosome stability ORPHA:859
Congenital Generalized Lipodystrophy
Congestive heart failure, Hypertrophic cardiomyopathy, Hepatic steatosis, Cirrhosis, Hepatomegaly ORPHA:528
Myasthenia Gravis
Rheumatoid arthritis, Hepatitis, Hashimoto thyroiditis, Myositis, Raynaud phenomenon ORPHA:589
Neutral Lipid Storage Disease With Myopathy
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Chronic pancreatitis, He... OMIM:610717
Familial Partial Lipodystrophy, Dunnigan Type
Congestive heart failure, Hypertrophic cardiomyopathy, Hepatic steatosis, Splenomegaly, Pancreati... ORPHA:2348
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly ORPHA:417
Chronic Mucocutaneous Candidiasis
Skin rash, Cheilitis, Hepatitis ORPHA:1334
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Cardiomyopathy, Hepatic steatosis, Decreased liver function OMIM:614922
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Hepatic Veno-Occlusive Disease
Ascites, Hepatomegaly, Jaundice, Elevated circulating hepatic transaminase concentration ORPHA:890
Lymphoproliferative Syndrome, X-Linked, 1
Vasculitis, Hepatic failure, Lymphoma, Splenomegaly, Infectious encephalitis, Hepatomegaly, Fulmi... OMIM:308240
Hemochromatosis, Type 2B
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Splenomegaly, Cirrhosi... OMIM:613313
Mitochondrial Neurogastrointestinal Encephalomyopathy
Macrovesicular hepatic steatosis, Cirrhosis, Elevated circulating hepatic transaminase concentration ORPHA:298
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Hematochezia, Minimal change glomerulonephritis, Hepatitis, Eczematoid dermatitis, Splenomegaly, ... OMIM:620565
Immunodeficiency 42
Hepatomegaly, Splenomegaly OMIM:616622
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Recurrent otitis media, Pyoderma, Infectious encephalitis, Prostatitis, Enteroviral he... OMIM:307200
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly OMIM:603902
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice OMIM:243300
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hepatic failure, Elevated circulating hepatic transaminase concentration, Congestive heart failur... OMIM:617156
Galactosemia Iii
Hepatomegaly, Jaundice, Splenomegaly OMIM:230350
Citrullinemia Type Ii
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Pan... ORPHA:247585
Autoimmune Lymphoproliferative Syndrome
Neoplasm of the skin, Hypersplenism, Hodgkin lymphoma, Glomerulonephritis, Basal cell carcinoma, ... ORPHA:3261
Mucopolysaccharidosis Type 7
Splenomegaly, Hepatitis ORPHA:584
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Thymoma, Aplasia/Hypoplasia of the spleen, Rheumatoid arthritis, Biliary cirr... ORPHA:227990
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Hepatic steatosis ORPHA:435660
Fanconi Anemia, Complementation Group S
Chromosome breakage, Ovarian neoplasm, Ovarian carcinoma, Breast carcinoma OMIM:617883
Familial Chylomicronemia Syndrome
Pulmonary embolism, Hepatosplenomegaly, Hepatic steatosis, Recurrent pancreatitis, Perianal absce... ORPHA:444490
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Reduced 3-methylcrotonyl CoA carboxylase activity in cultured fibroblasts, Acute hepatic steatosis OMIM:210200
Neutral Lipid Storage Myopathy
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... ORPHA:98908
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Splenomegaly OMIM:607685
Progressive Familial Intrahepatic Cholestasis
Cholestasis, Hepatomegaly, Jaundice, Splenomegaly ORPHA:172
Fanconi Anemia, Complementation Group J
Chromosomal breakage induced by crosslinking agents OMIM:609054
Osteootohepatoenteric Syndrome
Hepatic fibrosis, Portal fibrosis, Cholestasis, Microvesicular hepatic steatosis, Prolonged neona... OMIM:619377
Fructose-1,6-Bisphosphatase Deficiency
Elevated circulating hepatic transaminase concentration, Abnormal circulating enzyme concentratio... ORPHA:348
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Splenomegaly, Hepatomegaly OMIM:616719
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Pneumonia, Inflammatory abnormality of the skin, Elevated circulating hepatic transaminase concen... ORPHA:37042
Aicardi-Goutieres Syndrome 9
Acute pancreatitis, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, He... OMIM:619487
Combined Oxidative Phosphorylation Deficiency 37
Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration... OMIM:618329
Microsporidiosis
Pneumonia, Nephritis, Lymphadenitis, Hepatitis, Keratitis, Abnormality of the spleen, Osteomyelit... ORPHA:2552
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Splenomegaly OMIM:133180
Spondyloenchondrodysplasia
Pneumonia, Vasculitis, Hepatitis, Skin rash, Enchondroma, Raynaud phenomenon, Arthritis, Juvenile... ORPHA:1855
Immunodeficiency By Defective Expression Of Mhc Class Ii
Chronic mucocutaneous candidiasis, Skin rash, Sclerosing cholangitis, Acute otitis media, Chronic... ORPHA:572
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepatitis, Decreased li... ORPHA:415
Cholesteryl Ester Storage Disease
Hepatic failure, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice ORPHA:75234
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Vasculitis, Hematochezia, Pneumonia, Atopic dermatitis, Hepatitis, Hypertroph... OMIM:615846
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Myocardial infarction, Pancreatitis, Hepatic steatosis, Reduced cystathionine beta-synthase activ... OMIM:236200
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Thymoma, Aplasia/Hypoplasia of the spleen, Rheumatoid arthritis, Biliary cirr... ORPHA:227982
Isolated Polycystic Liver Disease
Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas ORPHA:2924
Seckel Syndrome 10
Acute pancreatitis, Congestive heart failure, Elevated circulating aspartate aminotransferase con... OMIM:617253
Fragile X Syndrome
Folate-dependent fragile site at Xq28, Sinusitis, Chronic otitis media, Otitis media ORPHA:908
Combined Oxidative Phosphorylation Deficiency 12
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Elevated circulating ... OMIM:614924
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase concentratio... OMIM:619463
Leptospirosis
Hypotension, Uveitis, Subconjunctival hemorrhage, Hepatitis, Pulmonary hemorrhage, Retinal hemorr... ORPHA:509
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Cholelithiasis, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Irid... OMIM:240300
Monosomy 13Q34
Hematochezia, Epistaxis, Hepatic steatosis, Prolonged prothrombin time, Pulmonic stenosis ORPHA:96168
Lipodystrophy, Congenital Generalized, Type 4
Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, ... OMIM:613327
Dysbetalipoproteinemia
Gout, Hepatic steatosis, Angina pectoris, Hepatomegaly, Acute pancreatitis ORPHA:412
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Psoriasiform dermatitis, Interface hepatitis, Enterocolitis, T-cell lymphoma OMIM:243150
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Hepatitis, Eczematoid dermatitis, Congestive heart failure,... ORPHA:391487
Zygomycosis
Pustule, Hematological neoplasm, Acute infectious pneumonia, Endocarditis, Gastrointestinal hemor... ORPHA:73263
3-Methylglutaconic Aciduria Type 7
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Cardiomyopathy ORPHA:445038
Garg-Mishra Progeroid Syndrome
Increased circulating lactate dehydrogenase concentration, Microvesicular hepatic steatosis OMIM:620601
Diaphanospondylodysostosis
Abnormal liver lobulation, Nephroblastomatosis OMIM:608022
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Hepatosplenomegaly, Erythroderma, Myeloproliferative disord... ORPHA:3260
Mitochondrial Trifunctional Protein Deficiency
Cardiomyopathy, Congestive heart failure, Cholestasis, Tricuspid regurgitation, Mitral regurgitat... ORPHA:746
Fanconi-Bickel Syndrome
Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Abnormal hepatic ... ORPHA:2088
Relapsing Polychondritis
Uveitis, Keratitis, Hepatitis, Large vessel vasculitis, Recurrent aphthous stomatitis, Episclerit... ORPHA:728
Radial-Renal Syndrome
Chromosome breakage OMIM:179280
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Cholestatic liver disease, Accessory spleen, Polysplenia, Exocrine pancreatic insufficiency, Hepa... OMIM:619418
Mccune-Albright Syndrome
Hepatitis, Cholestasis, Benign gastrointestinal tract tumors, Pancreatitis, Hepatocellular adenom... ORPHA:562
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatic failure, Cardiomyopathy, Hepatic steatosis, Hepatic calcification, Arrhythmia, Reduced ti... ORPHA:228308
Bone Marrow Failure Syndrome 3
Chromosome breakage, Eczematoid dermatitis, Exocrine pancreatic insufficiency, Hyperechogenic pan... OMIM:617052
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Elevated circula... OMIM:608836
Progeria-Short Stature-Pigmented Nevi Syndrome
Elevated circulating hepatic transaminase concentration, Neoplasm, Hepatic steatosis, Supraventri... ORPHA:2959
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Hypertrophic cardiomyopathy, Decreased liver function, Diffuse hepatic steatosis ORPHA:436271
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated circulating hepatic transaminase concentration, Abnormality of exocrine pancreas physiol... ORPHA:93111
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Chromosomal breakage induced by crosslinking agents OMIM:619060
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Splenomegaly, Cirrho... OMIM:616860
Fragile X Syndrome
Folate-dependent fragile site at Xq28 OMIM:300624
T-Cell Immunodeficiency With Thymic Aplasia
Pneumonia, Eczematoid dermatitis, Atypical or prolonged hepatitis, Sinusitis, Chronic otitis medi... ORPHA:83471
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra... OMIM:619662
Cholestasis-Lymphedema Syndrome
Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,... ORPHA:1414
Fanconi Anemia, Complementation Group O
Chromosome breakage OMIM:613390
Dubin-Johnson Syndrome
Hepatomegaly, Jaundice, Abnormality of the liver, Biliary tract abnormality ORPHA:234
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated gamma-glutamyltransferase level, Gastrointestinal hemorrhage, Elevated circulating hepat... ORPHA:247598
Cimdag Syndrome
Hepatomegaly, Cholelithiasis, Microvesicular hepatic steatosis OMIM:619273
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Mitral regurgitation, Hepatic steatosis, Arrhythmia ORPHA:254346
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Hepatosplenomegaly, Microvesicular hepatic steatosis, Hepatocellular necrosis OMIM:618278
Agammaglobulinemia, X-Linked
Recurrent pneumonia, Bronchiectasis, Recurrent otitis media, Pyoderma, Recurrent sinusitis, Infec... OMIM:300755
Cholestasis, Progressive Familial Intrahepatic, 2
Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Hepatocel... OMIM:601847
Late-Onset Isolated Acth Deficiency
Hypotension, Pituitary adenoma, Hepatitis, Hashimoto thyroiditis, Orthostatic hypotension ORPHA:199299
Familial Adenomatous Polyposis
Stomach cancer, Hepatoblastoma, Brain neoplasm, Osteoma, Desmoid tumors, Angiofibromas, Neoplasm ... ORPHA:733
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Thyroiditis, Epistaxis, Inflammation of the large intestine, Abnormal bleeding, Bruising suscepti... ORPHA:79259
Amyloidosis, Hereditary Systemic 2
Cholestasis, Hepatomegaly, Splenomegaly OMIM:105200
Wilson Disease
Hepatic failure, Portal fibrosis, Acute hepatic failure, Elevated circulating aspartate aminotran... OMIM:277900
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:235555
Acute Disseminated Encephalomyelitis
Optic neuritis, Myelitis, Herpes simplex encephalitis, Viral hepatitis ORPHA:83597
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Splenomegaly OMIM:618852
Familial Adenomatous Polyposis 1
Adrenocortical adenoma, Fibroadenoma of the breast, Adenomatous colonic polyposis, Duodenal adeno... OMIM:175100
Dilated Cardiomyopathy With Ataxia
Prolonged QT interval, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentr... ORPHA:66634
Gardner Syndrome
Colon cancer, Ampulla of Vater carcinoma, Hepatoblastoma, Brain neoplasm, Osteoma, Fibrosarcoma, ... ORPHA:79665
3-Methylglutaconic Aciduria, Type Viib
Recurrent pneumonia, Abnormal bleeding, Congestive heart failure, Hepatic steatosis, Prolonged pr... OMIM:616271
Fructose Intolerance, Hereditary
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Hepatic ste... OMIM:229600
Combined Oxidative Phosphorylation Deficiency 27
Microvesicular hepatic steatosis OMIM:616672
Alstrom Syndrome
Nephritis, Recurrent pneumonia, Dilated cardiomyopathy, Elevated circulating hepatic transaminase... OMIM:203800
Congenital Disorder Of Glycosylation, Type Ia
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Hepati... OMIM:212065
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Enlarged kidney OMIM:615285
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Hepatitis, Psoriasiform dermatitis, Hashimoto thyroiditis, Abnormal ductus ch... ORPHA:436252
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Acne, Pituitary adenoma, Neuroendocrine neoplasm, Bruising susceptibility, Meningioma, Hepatic st... ORPHA:189427
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Elevated gamma-glutamyltransferase level, Hepatic failure, Dilated cardiomyop... OMIM:619573
Budd-Chiari Syndrome
Elevated circulating hepatic transaminase concentration, Ascites, Acute hepatic failure, Portal h... ORPHA:131
Postinfectious Vasculitis
Pneumonia, Bacterial endocarditis, Palpable purpura, Inflammatory abnormality of the skin, Cerebr... ORPHA:48435
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Cholestasis, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice ORPHA:59303
Lysosomal Acid Lipase Deficiency
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypot... ORPHA:275761
D-Bifunctional Protein Deficiency
Elevated circulating hepatic transaminase concentration, Cholestasis, Hepatic steatosis, Splenome... OMIM:261515
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating hepatic trans... OMIM:124000
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic fibrosis, Exocrine pancreatic insufficiency, Hepatic steatosis, Pancreatic fibrosis, Hepa... OMIM:616263
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Esophagitis, Hepatic steat... OMIM:615356
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Decreased liver function, Hypertrophic cardiomyopathy, Increased intramyocellular lipid droplets,... OMIM:220110
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly ORPHA:66661
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Abnormal atrioventricular conduction, Congestive heart failure, Hypertrophic cardiomyopathy, Vent... ORPHA:280365
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated circulating hepatic transaminase concentration, Elevated circulating alkaline phosphatas... ORPHA:263455
Kawasaki Disease
Vasculitis, Hepatitis, Conjunctivitis, Congestive heart failure, Cholecystitis, Skin rash, Arrhyt... ORPHA:2331
Propionic Acidemia
Hepatomegaly ORPHA:35
3-Hydroxy-3-Methylglutaric Aciduria
Hypotension, Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Lip... ORPHA:20
Primary Sjögren Syndrome
Vasculitis, Biliary cirrhosis, Arteritis, Lymphoma, Parotitis, Chronic hepatitis, Lymphocytic int... ORPHA:289390
Lipodystrophy, Congenital Generalized, Type 1
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Hepatic steatosis, Splen... OMIM:608594
Congenital Disorder Of Glycosylation, Type Iiw
Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration... OMIM:619525
Cartilage-Hair Hypoplasia
Abnormality of chromosome stability, Cardiomyopathy, Hepatomegaly, Abnormality of the pancreas, H... ORPHA:175
Mosaic Trisomy 9
Asplenia, Patent ductus arteriosus, Abnormal liver lobulation ORPHA:99776
Mucopolysaccharidosis-Plus Syndrome
Nephritis, Recurrent pneumonia, Congestive heart failure, Hypertrophic cardiomyopathy, Splenomega... OMIM:617303
Klatskin Tumor
Hepatomegaly, Jaundice, Cholangiocarcinoma, Extrahepatic cholestasis ORPHA:99978
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hepatic failure, Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis,... OMIM:203700
Abetalipoproteinemia
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Abnormal bleeding, Con... ORPHA:14
Immunodeficiency 82 With Systemic Inflammation
Pneumonia, Hepatitis, Pustular rash, Recurrent otitis media, Osteomyelitis, Splenomegaly, Skin ra... OMIM:619381
Meckel Syndrome, Type 3
Malformation of the hepatic ductal plate, Hepatic fibrosis, Bile duct proliferation, Hepatomegaly OMIM:607361
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom... OMIM:211600
Fanconi Anemia, Complementation Group D2
Deficient excision of UV-induced pyrimidine dimers in DNA, Annular pancreas, Bruising susceptibil... OMIM:227646
Gaucher Disease
Gingival bleeding, Splenic infarction, Cholelithiasis, Hepatic failure, Abnormal bleeding, Hepati... ORPHA:355
Lipodystrophy, Congenital Generalized, Type 2
Elevated circulating hepatic transaminase concentration, Hypertrophic cardiomyopathy, Hepatic ste... OMIM:269700
Fanconi Anemia, Complementation Group V
Chromosomal breakage induced by crosslinking agents OMIM:617243
Glycogen Storage Disease Ixa1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly OMIM:306000
Fish-Eye Disease
Hepatomegaly, Splenomegaly ORPHA:79292
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Hypertension, Hepatic steatosis, Acute pancreatitis OMIM:151660
Sarcoidosis
Hepatic failure, Bronchiectasis, Uveitis, Decreased liver function, Parotitis, Portal hypertensio... ORPHA:797
Combined Oxidative Phosphorylation Deficiency 14
Increased hepatic glycogen content, Elevated hepatic iron concentration, Copper accumulation in l... OMIM:614946
Dyskeratosis Congenita, Autosomal Recessive 8
Inflammation of the large intestine, Chromosomal breakage induced by crosslinking agents, Petechi... OMIM:620133
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hepatic sinusoidal dilatation, Tricuspid regurgitation, Splenic cyst, Vitreous hemorrhage, Pancre... OMIM:620371
Fanconi Anemia, Complementation Group P
Squamous cell carcinoma, Chromosomal breakage induced by crosslinking agents OMIM:613951
Turcot Syndrome With Polyposis
Glioma, Hepatoblastoma, Brain neoplasm, Desmoid tumors, Leukemia, Basal cell carcinoma, Glioblast... ORPHA:99818
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated circulating hepatic transaminase concentration, Hypertrophic cardiomyopathy, Abnormal ci... ORPHA:17
Fanconi Anemia, Complementation Group N
Medulloblastoma, Nephroblastoma, Acute myeloid leukemia, Chromosomal breakage induced by crosslin... OMIM:610832
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Hypertrophic car... ORPHA:309854
Lujo Hemorrhagic Fever
Hypotension, Elevated circulating hepatic transaminase concentration, Increased circulating lacta... ORPHA:319213
Arima Syndrome
Hepatic fibrosis, Hepatic steatosis, Cirrhosis, Hepatomegaly, Hypertension OMIM:243910
Caroli Disease
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit... ORPHA:53035
Liver Disease, Severe Congenital
Portal inflammation, Recurrent otitis media, Hepatic steatosis, Abnormal hepatic echogenicity, He... OMIM:619991
Pearson Syndrome
Hepatic failure, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Exocrin... ORPHA:699
Fanconi Anemia, Complementation Group E
Leukemia, Deficient excision of UV-induced pyrimidine dimers in DNA, Chromosomal breakage induced... OMIM:600901
Nijmegen Breakage Syndrome
Acute leukemia, Abnormality of chromosome stability, Glioma, Recurrent pneumonia, Lymphoma, Neopl... ORPHA:647
Hyperzincemia With Functional Zinc Depletion
Hepatomegaly OMIM:601979
Fanconi Anemia, Complementation Group U
Chromosome breakage, Patent ductus arteriosus OMIM:617247
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated circulating hepatic transaminase concentration, Decreased liver function, Cholestasis, P... OMIM:613658
Fanconi Anemia, Complementation Group B
Abnormality of chromosome stability, Patent ductus arteriosus OMIM:300514
Fanconi Anemia, Complementation Group A
Leukemia, Deficient excision of UV-induced pyrimidine dimers in DNA, Chromosomal breakage induced... OMIM:227650
Occipital Horn Syndrome
Bruising susceptibility, Hepatitis, Cholestasis, Esophagitis, Exostoses, Jaundice ORPHA:198
Intellectual Developmental Disorder, Autosomal Dominant 68
Patent ductus arteriosus, Hepatic steatosis OMIM:619934
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho... OMIM:607626
Icf Syndrome
Abnormality of chromosome stability ORPHA:2268
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Hepatomegaly, Jaundice, Splenomegaly OMIM:612714
Fanconi Anemia
Abnormality of chromosome stability, Hypertrophic cardiomyopathy, Abnormality of the liver, Neopl... ORPHA:84
Fanconi Anemia, Complementation Group I
Chromosomal breakage induced by crosslinking agents OMIM:609053
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Splenomegaly OMIM:620296
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Congestive heart failure, Cardiomyopathy, Increased hepatic glycogen content OMIM:619259
Riddle Syndrome
Pneumonia, Recurrent pneumonia, Otitis media, Recurrent sinusitis, Chronic sinusitis, Telangiecta... ORPHA:420741
Renal-Hepatic-Pancreatic Dysplasia 2
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Hepatic cysts, Hepatomeg... OMIM:615415
Fanconi Anemia, Complementation Group C
Leukemia, Deficient excision of UV-induced pyrimidine dimers in DNA, Chromosomal breakage induced... OMIM:227645
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase concentratio... ORPHA:404454
Renal-Hepatic-Pancreatic Dysplasia 1
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole... OMIM:208540
Aromatase Deficiency
Hepatic steatosis ORPHA:91
Fanconi Anemia, Complementation Group R
Chromosomal breakage induced by crosslinking agents OMIM:617244
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Splenomegaly, Cholecystitis, Hepatomegaly, Jaundice OMIM:266200
Isolated Biliary Atresia
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Decreased liver fun... ORPHA:30391
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Elevated circulating alkaline phosphatase concentration, Microvesicular hepatic steatosis, Cirrho... OMIM:300868
Fanconi Anemia, Complementation Group F
Pneumonia, Chromosomal breakage induced by crosslinking agents, Patent ductus arteriosus OMIM:603467
Glycogen Storage Disease Ic
Spider hemangioma, Inflammation of the large intestine, Chronic pancreatitis, Gout, Hepatoblastom... OMIM:232240
Overhydrated Hereditary Stomatocytosis
Prolonged neonatal jaundice, Hepatomegaly, Jaundice, Splenomegaly OMIM:185000
Fanconi Anemia, Complementation Group L
Chromosome breakage, Chromosomal breakage induced by crosslinking agents OMIM:614083
Myelofibrosis
Hepatomegaly, Splenomegaly OMIM:254450
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly OMIM:207750
Turner Syndrome Due To Structural X Chromosome Anomalies
Cholestatic liver disease, Hepatic fibrosis, Inflammation of the large intestine, Elevated circul... ORPHA:99413
Turner Syndrome
Cholestatic liver disease, Hepatic fibrosis, Inflammation of the large intestine, Elevated circul... ORPHA:881
Mosaic Monosomy X
Cholestatic liver disease, Hepatic fibrosis, Inflammation of the large intestine, Elevated circul... ORPHA:99228
Monosomy X
Cholestatic liver disease, Hepatic fibrosis, Inflammation of the large intestine, Elevated circul... ORPHA:99226
Congenital Disorder Of Glycosylation, Type Iiaa
Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, ... OMIM:620454
Meningioma
Neoplasm of the skin, Neurofibroma, Neoplasm of the anterior pituitary, Spinal meningioma, Neopla... ORPHA:2495
Atypical Werner Syndrome
Aortic valve stenosis, Neoplasm of the skin, Neoplasm of the oral cavity, Meningioma, Congestive ... ORPHA:79474
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Hepatic cysts, Splenomegaly, Hepatome... OMIM:263200
Smith-Lemli-Opitz Syndrome
Cholestatic liver disease, Eczematoid dermatitis, Hypertrophic cardiomyopathy, Recurrent otitis m... OMIM:270400
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated circulating hepatic transaminase concentration, Tricuspid regurgitation, Mitral regurgit... OMIM:619127
Caroli Syndrome
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... ORPHA:480520
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Jaundice, Splenomegaly OMIM:616689
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hepatic steatosis OMIM:619321
Homozygous Familial Hypercholesterolemia
Supravalvular aortic stenosis, Mitral regurgitation, Hepatic steatosis, Hypertension, Angina pect... ORPHA:391665
1P36 Deletion Syndrome
Dilated cardiomyopathy, Annular pancreas, Abnormality of the spleen, Abnormality of the liver, He... ORPHA:1606
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Aortic regurgitation, Elevated circulating hepatic transaminase concentration, Neurofibroma, Cong... OMIM:619475
Bardet-Biedl Syndrome
Hepatic fibrosis, Inflammation of the large intestine, Elevated circulating hepatic transaminase ... ORPHA:110
Ogden Syndrome
Eczematoid dermatitis, Torsade de pointes, Premature atrial contractions, Recurrent otitis media,... OMIM:300855
Alström Syndrome
Elevated gamma-glutamyltransferase level, Hepatosplenomegaly, Hepatic steatosis, Cirrhosis, Glome... ORPHA:64
Digeorge Syndrome
Cholelithiasis, Recurrent pneumonia, Recurrent otitis media, Splenomegaly, Hepatic steatosis, Rec... OMIM:188400
Pmm2-Cdg
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Aspiration pneumonia, ... ORPHA:79318
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hypertrophic cardiomyopathy, Mitral regurgitation, Microvesicular hepatic steatosis, Hypertension... OMIM:220111
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Atopic dermatitis, Cholestasis, Recurrent otitis media, Hepatosplenomegaly, Ischemic stroke, Port... OMIM:619503
Hyperlipoproteinemia, Type Id
Hepatomegaly, Recurrent pancreatitis, Pancreatitis, Splenomegaly OMIM:615947
Wiedemann-Rautenstrauch Syndrome
Recurrent otitis media, Hepatic steatosis, Synovitis, Recurrent skin infections, Pulmonic stenosis 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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