Registered for phenotyping at IMPC

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

Gene Summary

Name:
chloride channel accessory 2
Synonyms:
Clca5

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Clca2 mutations

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

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

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

The table below shows human diseases predicted to be associated to Clca2 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 hepatic transaminase OMIM:606664
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Splenomegaly ORPHA:294
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly ORPHA:79281
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Hepatomegaly OMIM:605911
Pediatric Hepatocellular Carcinoma
Hepatic fibrosis, Hepatic necrosis, Hepatomegaly ORPHA:33402
Polycystic Liver Disease 2 With Or Without Kidney Cysts
Hepatomegaly, Hepatic cysts OMIM:617004
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatic steatosis, Hepatic fibrosis, Hepatomegaly, Splenomegaly OMIM:614480
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated hepatic transaminase OMIM:614582
Glycogen Storage Disease Ixb
Hepatomegaly, Increased hepatic glycogen content OMIM:261750
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly OMIM:615158
Hemochromatosis, Neonatal
Cirrhosis, Hepatocellular necrosis, Cholestasis, Hepatic fibrosis, Prolonged neonatal jaundice, H... OMIM:231100
Tyrosinemia Type 1
Hepatomegaly, Hepatocellular carcinoma, Acute hepatic failure, Splenomegaly ORPHA:882
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Congenital Bile Acid Synthesis Defect Type 2
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Chronic hepatic fai... ORPHA:79303
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Splenomegaly ORPHA:46532
Glycogen Storage Disease Ixa1
Hepatomegaly, Elevated hepatic transaminase OMIM:306000
Hemoglobin H Disease
Hepatomegaly, Splenomegaly OMIM:613978
Congenital Bile Acid Synthesis Defect Type 3
Elevated hepatic transaminase, Neonatal cholestatic liver disease, Biliary tract abnormality, Hep... ORPHA:79302
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Splenomegaly OMIM:606445
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly OMIM:615947
Immunodeficiency 48
Hepatomegaly, Splenomegaly OMIM:269840
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly OMIM:609016
Congenital Disorder Of Glycosylation, Type Ii
Hepatomegaly OMIM:607906
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Increased hepatic glycogen content, Hepatomegaly OMIM:232700
Heme Oxygenase 1 Deficiency
Hepatomegaly OMIM:614034
African Iron Overload
Peritonitis, Micronodular cirrhosis, Viral hepatitis, Hepatic steatosis, Hepatocellular carcinoma... ORPHA:139507
Systemic Primary Carnitine Deficiency
Hepatomegaly, Elevated hepatic transaminase ORPHA:158
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatitis, Hepatic failure ORPHA:60
Multiple Symmetric Lipomatosis
Hepatomegaly ORPHA:2398
Mulibrey Nanism
Hepatomegaly ORPHA:2576
Nphp3-Related Meckel-Like Syndrome
Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology ORPHA:3032
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hepatic steatosis OMIM:615238
Peroxisome Biogenesis Disorder 10A (Zellweger)
Hepatomegaly OMIM:614882
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Immunodeficiency 47
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Prolonged neonatal jau... OMIM:300972
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Abnormality of the liver ORPHA:1980
Bile Acid Conjugation Defect 1
Elevated circulating alanine aminotransferase concentration, Hepatomegaly, Jaundice, Hepatic fail... OMIM:619232
Nephronophthisis 19
Cholestasis, Hepatic fibrosis, Hepatomegaly, Splenomegaly, Bile duct proliferation OMIM:616217
Sclerosing Cholangitis, Neonatal
Cirrhosis, Elevated hepatic transaminase, Sclerosing cholangitis, Biliary cirrhosis, Cholestasis,... OMIM:617394
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Jaundice, Splenomegaly OMIM:237800
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Elevate... OMIM:251880
Retinitis Pigmentosa 59
Hepatomegaly, Elevated hepatic transaminase OMIM:613861
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Jaundice, Elevated circulating aspartate aminotransferase concentration OMIM:614876
Rft1-Cdg
Hepatomegaly ORPHA:244310
Cyanosis, Transient Neonatal
Hepatomegaly, Jaundice OMIM:613977
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Biliary tract abnor... ORPHA:79301
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly ORPHA:2432
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Splenomegaly OMIM:618541
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Hepatomegaly, Splenomegaly OMIM:608971
Congenital Disorder Of Glycosylation, Type Iir
Micronodular cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Jaundice,... OMIM:301045
Cholestasis-Lymphedema Syndrome
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Hepatomegaly, Jaund... OMIM:214900
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Splen... OMIM:602347
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Hepatomegaly, Hepatic failure, Splenomegaly OMIM:616719
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Hepatic steatosis, Hepatic necrosis OMIM:231530
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly ORPHA:417
Galactose Mutarotase Deficiency
Hepatomegaly, Decreased liver function, Cholestasis ORPHA:570422
Galactosemia Iii
Hepatomegaly, Jaundice, Splenomegaly OMIM:230350
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Portal hypertension, Hepatic fibrosis, Jaundice, Hepatomegaly, Hep... OMIM:616278
Hemochromatosis, Type 2B
Hepatomegaly, Cirrhosis, Elevated hepatic transaminase, Splenomegaly OMIM:613313
Congenital Bile Acid Synthesis Defect Type 4
Hepatomegaly, Cirrhosis, Biliary tract abnormality, Cholestasis ORPHA:79095
Biliary Atresia, Extrahepatic
Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Extrahepatic biliary duct atresia,... OMIM:210500
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Splenomegaly OMIM:607685
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Splenomegaly OMIM:618495
Hepatic Veno-Occlusive Disease
Hepatomegaly, Jaundice, Ascites, Elevated hepatic transaminase ORPHA:890
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Hepatic failure OMIM:618549
Peroxisome Biogenesis Disorder 6A (Zellweger)
Hepatomegaly, Decreased liver function OMIM:614870
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hepatic steatosis, Hepatic failure OMIM:617872
Mitochondrial Complex I Deficiency, Nuclear Type 3
Hepatomegaly OMIM:618224
Liver Failure, Infantile, Transient
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Macrovesicular hepatic steatosis... OMIM:613070
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Splenomegaly OMIM:133180
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatocellular necrosis, Hepatic steatosis, Periportal fibrosis, Hepatomegaly, Cardiomegaly OMIM:201475
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Hepatomegaly, Prol... OMIM:214950
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Intermittent jaundice, Intrahepatic cholestasis with episodic jaundice, Pancreatitis OMIM:243300
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Elevated hepatic transaminase, Cholestasis, Hepatomegaly, Jaundice, Hepatic failure OMIM:618528
Cholestasis, Benign Recurrent Intrahepatic, 2
Hepatomegaly, Jaundice, Intrahepatic cholestasis, Cholelithiasis OMIM:605479
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Macrovesicular hepatic steatosis OMIM:618234
3-Methylglutaconic Aciduria Type 1
Hepatomegaly ORPHA:67046
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Hepat... OMIM:613812
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Jaundice, Splenomegaly, Cholestasis ORPHA:172
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatomegaly, Jaundice, Splenomegaly OMIM:211600
Developmental And Epileptic Encephalopathy 36
Hepatomegaly OMIM:300884
Cholesteryl Ester Storage Disease
Cirrhosis, Hepatomegaly, Jaundice, Hepatic failure, Splenomegaly ORPHA:75234
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Elevated hepatic transaminase OMIM:615895
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly OMIM:611721
Amyloidosis, Familial Visceral
Hepatomegaly, Splenomegaly, Cholestasis OMIM:105200
Congenital Disorder Of Glycosylation, Type Iio
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Prolonged neonatal jaundice, Cholestatic ... OMIM:616828
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly OMIM:615285
Sandhoff Disease
Hepatomegaly, Splenomegaly ORPHA:796
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Splenomegaly OMIM:618852
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Splenomegaly ORPHA:86893
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Hepatic steatosis, Pancreatitis ORPHA:79084
Glycogen Storage Disease Ixc
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation OMIM:613027
Dubin-Johnson Syndrome
Hepatomegaly, Jaundice, Abnormality of the liver, Biliary tract abnormality ORPHA:234
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Splenomegaly OMIM:613673
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly ORPHA:66661
Niemann-Pick Disease, Type B
Hepatomegaly, Splenomegaly OMIM:607616
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Hepatic steatosis, Elevated hepatic transaminase OMIM:610717
Leigh Syndrome
Hepatocellular necrosis OMIM:256000
Cystic Fibrosis
Hepatomegaly, Biliary cirrhosis, Exocrine pancreatic insufficiency ORPHA:586
Propionic Acidemia
Hepatomegaly ORPHA:35
Peroxisome Biogenesis Disorder 13A (Zellweger)
Hepatomegaly, Jaundice, Cholestasis OMIM:614887
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Hepatomegaly, Hepatic fibrosi... ORPHA:369
Isolated Polycystic Liver Disease
Hepatomegaly, Abnormality of the pancreas, Polycystic liver disease ORPHA:2924
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Jaundice, Splenomegaly, Elevated hepatic ... OMIM:616860
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatocellular carcinoma, Hepatomegaly, Intermittent jaundic... OMIM:601847
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly OMIM:615234
Farber Lipogranulomatosis
Hepatomegaly, Splenomegaly OMIM:228000
Klatskin Tumor
Hepatomegaly, Jaundice, Cholangiocarcinoma, Extrahepatic cholestasis ORPHA:99978
Dysplastic Cortical Hyperostosis
Hepatomegaly, Splenomegaly ORPHA:2204
Peroxisome Biogenesis Disorder 3A (Zellweger)
Hepatomegaly OMIM:614859
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly OMIM:615924
Coproporphyria, Hereditary
Hepatomegaly, Jaundice, Splenomegaly OMIM:121300
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Jaundice, Hepatic steatosis, Hepatic periportal necrosis OMIM:231680
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Hepatic failure,... OMIM:235555
Cholestasis-Lymphedema Syndrome
Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice,... ORPHA:1414
Dihydrolipoamide Dehydrogenase Deficiency
Hepatomegaly, Decreased liver function, Elevated hepatic transaminase OMIM:246900
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Hepatomegaly, Ascites ORPHA:2198
Gaucher Disease Type 2
Hepatomegaly, Splenomegaly ORPHA:77260
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Hepatic steatosis, Hepatosplenomegaly, Splenomegaly OMIM:612526
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Hepatom... OMIM:607765
Peroxisomal Acyl-Coa Oxidase Deficiency
Hepatomegaly, Elevated hepatic transaminase, Diffuse hepatic steatosis OMIM:264470
Alpha-Heavy Chain Disease
Hepatomegaly, Ascites, Splenomegaly ORPHA:100025
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Hepatomegaly, Lef... OMIM:619048
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Splenomegaly OMIM:615085
Mu-Heavy Chain Disease
Hepatomegaly, Splenomegaly ORPHA:100024
Carcinoid Syndrome
Hepatic necrosis, Elevated hepatic transaminase ORPHA:100093
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Splenomegaly OMIM:608540
Congenital Disorder Of Glycosylation, Type In
Hepatomegaly OMIM:612015
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Cholestasis, Hepatomegaly, Jaundice, Splenomegaly, Portal hypertension ORPHA:59303
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Jaundice, Splenomegaly OMIM:185000
Caroli Disease, Isolated
Hepatomegaly, Cholangitis, Liver abscess, Portal hypertension OMIM:600643
Hemochromatosis, Type 2A
Hepatomegaly, Cirrhosis, Splenomegaly OMIM:602390
Microcephaly, Amish Type
Hepatomegaly OMIM:607196
Hodgkin Lymphoma
Hepatomegaly, Splenomegaly ORPHA:98293
Hyperzincemia With Functional Zinc Depletion
Hepatomegaly OMIM:601979
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly OMIM:613730
Peroxisome Biogenesis Disorder 7A (Zellweger)
Hepatomegaly, Jaundice OMIM:614872
Fish-Eye Disease
Hepatomegaly, Splenomegaly ORPHA:79292
Meckel Syndrome, Type 3
Hepatic fibrosis, Bile duct proliferation, Malformation of the hepatic ductal plate, Hepatomegaly OMIM:607361
Budd-Chiari Syndrome
Peritonitis, Cirrhosis, Elevated hepatic transaminase, Cholecystitis, Acute hepatic failure, Hepa... ORPHA:131
Infantile Liver Failure Syndrome 3
Elevated hepatic transaminase, Hepatic steatosis, Hepatic bridging fibrosis, Acute hepatic failur... OMIM:618641
Combined Oxidative Phosphorylation Deficiency 1
Hepatomegaly, Fulminant hepatic failure, Cholestasis OMIM:609060
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly ORPHA:28
Leber Congenital Amaurosis 1
Hepatomegaly OMIM:204000
Glycogen Storage Disease Iii
Hepatic fibrosis, Elevated hepatic transaminase, Hepatomegaly OMIM:232400
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Jaundice, Splenomegaly OMIM:603552
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hepatic necrosis, Hepatic steatosis, Acute hepatic failure, Elevated hepatic transaminase ORPHA:71212
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Cardiomegaly, Macrovesicular hepatic steatosis, Elevated hepatic transaminase OMIM:600649
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Acute pancreatitis, Hepatomegaly, Decreased liver function, Hepati... ORPHA:26791
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Hepatocellular necrosis, Cardiomegaly OMIM:618278
Infantile Liver Failure Syndrome 1
Hepatomegaly, Hepatic steatosis, Acute hepatic failure, Elevated hepatic transaminase OMIM:615438
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Pan... OMIM:618805
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Jaundice, Splenomegaly OMIM:615631
Congenital Disorder Of Glycosylation, Type Ib
Hepatic fibrosis, Cirrhosis, Hepatic failure, Hepatomegaly OMIM:602579
Mitochondrial Pyruvate Carrier Deficiency
Hepatomegaly OMIM:614741
Pfapa Syndrome
Hepatomegaly, Splenomegaly ORPHA:42642
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Splenomegaly OMIM:618107
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatomegaly, Hepatic steatosis, Elevated hepatic transaminase ORPHA:369840
Lcat Deficiency
Hepatomegaly, Splenomegaly ORPHA:650
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Hepatosplenomegaly, Elevated hepatic transaminase, Splenomegaly OMIM:610333
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Hepatomegaly OMIM:615704
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Patent ductus arteriosus, Ascites ORPHA:2123
Congenital Disorder Of Glycosylation, Type Iij
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Splenomegaly OMIM:613489
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Cirrhosis, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Macrovesicular hepati... OMIM:256810
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Macrovesicular hepatic steatosis, Cholestasis OMIM:614924
Combined Oxidative Phosphorylation Deficiency 33
Elevated hepatic transaminase, Left ventricular hypertrophy, Cardiomegaly, Hepatomegaly OMIM:617713
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Hepatomegaly, Abnormality of the liver ORPHA:254864
Congenital Toxoplasmosis
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Ascites, Cardiomegaly ORPHA:858
Harderoporphyria
Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly OMIM:618892
Macrocephaly/Autism Syndrome
Hepatomegaly, Splenomegaly OMIM:605309
Congenital Disorder Of Glycosylation, Type Iik
Hepatomegaly, Elevated hepatic transaminase OMIM:614727
Lysosomal Acid Lipase Deficiency
Elevated circulating aspartate aminotransferase concentration, Cirrhosis, Increased hepatic echog... OMIM:278000
Hepatocellular Carcinoma
Abnormality of the hepatic vasculature, Elevated hepatic transaminase, Hemobilia, Hepatomegaly, J... ORPHA:88673
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Hepatitis, Splenomegaly OMIM:300635
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Cholestasis, Hepatic fibrosis, Hepatomegaly, Asplenia OMIM:615415
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Cholelithiasis, Biliary hyperplasia,... ORPHA:567983
Mitochondrial Myopathy, Infantile, Transient
Hepatomegaly OMIM:500009
Pyruvate Carboxylase Deficiency
Hepatomegaly OMIM:266150
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Hepatosplenomegaly, Splenomegaly OMIM:611490
Dk1-Cdg
Hepatomegaly, Congenital hepatic fibrosis, Elevated hepatic transaminase, Splenomegaly ORPHA:91131
Immunodeficiency, Common Variable, 6
Hepatomegaly, Enlarged kidney OMIM:613496
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Hepatomegaly, Elevated hepatic transaminase OMIM:613561
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Acute pancreatitis OMIM:608600
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Cardiomegaly, Hepatomegaly OMIM:619064
Gaucher Disease, Type Iii
Hepatomegaly, Splenomegaly OMIM:231000
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Jaundice OMIM:613839
Carnitine Deficiency, Systemic Primary
Elevated hepatic transaminase, Hepatic steatosis, Decreased carnitine level in liver, Hepatomegal... OMIM:212140
Thoraco-Abdominal Enteric Duplication
Hepatomegaly ORPHA:1759
Pancreatitis, Sclerosing Cholangitis, And Sicca Complex
Hepatomegaly, Jaundice, Sclerosing cholangitis, Pancreatitis OMIM:260480
Medullary Thyroid Carcinoma
Abnormal liver parenchyma morphology ORPHA:1332
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Splenomegaly OMIM:615846
Caroli Disease
Cirrhosis, Intrahepatic cholestasis, Elevated circulating alanine aminotransferase concentration,... ORPHA:53035
Wilson Disease
Acute hepatitis, Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic failu... ORPHA:905
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Enlarged kidney, Hepatic cysts, Pancreatic cysts, Polysplenia, Biliary cirrhosis, Pate... OMIM:208540
Wolman Disease
Hepatomegaly, Ascites, Hepatic failure, Splenomegaly ORPHA:75233
Pleural Mesothelioma
Hepatomegaly ORPHA:50251
Trichohepatoenteric Syndrome 2
Hepatomegaly, Cirrhosis, Hepatitis OMIM:614602
Hurler-Scheie Syndrome
Hepatomegaly, Splenomegaly ORPHA:93476
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Hepatic steatosis, Cardiomegaly, Elevated hepatic transaminase OMIM:255120
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatomegaly, Jaundice, Hepatitis, Splenomegaly OMIM:194380
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Splenomegaly ORPHA:163596
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Splenomegaly OMIM:614470
Hypermanganesemia With Dystonia 1
Hepatomegaly, Cirrhosis, Decreased liver function, Elevated hepatic transaminase OMIM:613280
Babesiosis
Hepatomegaly, Jaundice, Hepatic failure, Splenomegaly ORPHA:108
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Jaundice, Exocrine pancreatic insufficiency, Splenomegaly OMIM:612714
Hemochromatosis, Type 1
Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Hepatomegaly, Ascites, Cardio... OMIM:235200
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis OMIM:275630
Combined Oxidative Phosphorylation Deficiency 47
Hepatomegaly, Elevated hepatic transaminase OMIM:618958
Beta-Thalassemia
Hepatomegaly, Hepatitis, Cholelithiasis, Splenomegaly ORPHA:848
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly ORPHA:158029
Cold Agglutinin Disease
Hepatomegaly, Splenomegaly ORPHA:56425
Classic Mycosis Fungoides
Hepatomegaly, Splenomegaly ORPHA:2584
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Hepatic steatosis, Elevated hepatic transaminase OMIM:201450
Interstitial Lung And Liver Disease
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Decreased liver function OMIM:615486
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly OMIM:207750
Indolent Systemic Mastocytosis
Hepatomegaly, Splenomegaly ORPHA:98848
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Jaundice, Splenomegaly OMIM:616689
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hepatomegaly, Jaundice, Splenomegaly OMIM:608885
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Hepatic cysts, Periportal fibrosis, Pancreatic cysts, Hepatomegaly, Splenomegaly... OMIM:263200
Schnitzler Syndrome
Hepatomegaly, Splenomegaly ORPHA:37748
Sialidosis Type 2
Hepatomegaly, Ascites, Splenomegaly ORPHA:87876
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Hepatomegaly OMIM:614299
Infantile Sialic Acid Storage Disease
Hepatomegaly, Ascites, Cardiomegaly, Splenomegaly OMIM:269920
Galactosemia I
Hepatomegaly, Cirrhosis, Decreased liver function OMIM:230400
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Hepatosplenomegaly, Splenomegaly OMIM:612840
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Ascites, Splenomegaly ORPHA:2414
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatomegaly, Elevated hepatic transaminase, Hepatic failure ORPHA:156
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Hepatomegaly OMIM:604273
Pseudo-Torch Syndrome 2
Elevated hepatic transaminase, Patent ductus arteriosus, Hepatomegaly, Decreased liver function, ... OMIM:617397
Gaucher Disease, Type Ii
Hepatomegaly, Splenomegaly OMIM:230900
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hepatic steatosis ORPHA:79085
Lymphoproliferative Syndrome 2
Hepatomegaly, Hepatosplenomegaly, Ascites, Splenomegaly OMIM:615122
Transaldolase Deficiency
Micronodular cirrhosis, Cirrhosis, Patent ductus arteriosus, Hepatic fibrosis, Hepatomegaly, Decr... OMIM:606003
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Splenomegaly OMIM:619375
Diffuse Cutaneous Mastocytosis
Hepatomegaly ORPHA:79456
Immunodeficiency, Common Variable, 2
Hepatomegaly, Splenomegaly OMIM:240500
Congenital Disorder Of Glycosylation, Type Ih
Patent ductus arteriosus, Cholestasis, Hepatomegaly, Decreased liver function, Ascites OMIM:608104
Immunodeficiency, Common Variable, 1
Hepatomegaly, Splenomegaly OMIM:607594
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Splenomegaly OMIM:201100
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Cholestasis, Hepatic fibrosis, Hepatomegaly, Hepatic failure, Splenomegaly OMIM:615630
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Hepatomegaly ORPHA:50812
Immunodeficiency 54
Hepatomegaly, Splenomegaly OMIM:609981
Isolated Biliary Atresia
Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Periportal fibrosis, Cholestasis, ... ORPHA:30391
Porphyria Cutanea Tarda
Hepatic lobular inflammation, Elevated hepatic transaminase, Viral hepatitis, Hepatic steatosis, ... ORPHA:101330
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Hepatic steatosis, Hepatic failure OMIM:261680
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Focal pancreatic islet hyperplasia, Diffuse pancreatic islet hyperplasia ORPHA:276575
Congenital Rubella Syndrome
Hepatomegaly, Jaundice, Patent ductus arteriosus, Splenomegaly ORPHA:290
Idiopathic/Heritable Pulmonary Arterial Hypertension
Hepatomegaly ORPHA:422
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Splenomegaly ORPHA:85414
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Diffuse pancreatic islet hyperplasia ORPHA:276556
Perlman Syndrome
Hepatomegaly, Abnormal pancreas morphology ORPHA:2849
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Hepatomegaly OMIM:251900
Distal Monosomy 17Q
Hepatomegaly, Patent ductus arteriosus ORPHA:1597
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Pancreatitis ORPHA:289916
Griscelli Syndrome Type 2
Hepatomegaly, Jaundice, Splenomegaly ORPHA:79477
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Hepatic steatosis, Cirrhosis ORPHA:363400
Pyruvate Dehydrogenase E3 Deficiency
Hepatomegaly, Elevated hepatic transaminase, Hepatic failure ORPHA:2394
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Pancreatitis, Splenomegaly ORPHA:79312
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Hepatic steatosis, Pancreatitis ORPHA:435651
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Decreased liver function, Ascites, Hepati... ORPHA:367
Classic Hodgkin Lymphoma
Hepatomegaly, Splenomegaly ORPHA:391
Autoimmune Lymphoproliferative Syndrome, Type Iii
Elevated circulating alanine aminotransferase concentration, Hepatomegaly, Splenomegaly, Elevated... OMIM:615559
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Splenomegaly OMIM:252900
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Hepatic fibrosis, Hepatomegaly, Cholestasis OMIM:266920
Desmoplastic Small Round Cell Tumor
Hepatomegaly, Neoplasm of the pancreas, Abnormality of the peritoneum, Ascites ORPHA:83469
Acute Liver Failure
Elevated hepatic transaminase, Hepatocellular necrosis, Jaundice, Hepatitis, Hepatic necrosis, He... ORPHA:90062
Tangier Disease
Hepatomegaly, Left ventricular hypertrophy, Splenomegaly OMIM:205400
Maternal Uniparental Disomy Of Chromosome 1
Hepatomegaly ORPHA:251009
Galactosemia
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Jaundice, Ascites, Hepatic failure ORPHA:352
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Fulminant hepatitis, Hepatic failure, Splenomegaly OMIM:308240
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Diffuse pancreatic islet hyperplasia ORPHA:276580
Severe Combined Immunodeficiency, X-Linked
Hepatomegaly OMIM:300400
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hepatomegaly ORPHA:79279
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:252920
Neuraminidase Deficiency
Hepatomegaly, Ascites, Cardiomegaly, Splenomegaly OMIM:256550
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Hepatosplenomegaly, Ascites OMIM:608776
Combined D-2- And L-2-Hydroxyglutaric Aciduria
Hepatomegaly OMIM:615182
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatomegaly, Hepatic steatosis, Elevated hepatic transaminase OMIM:615381
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Decreased liver function, Cardiom... ORPHA:42
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Splenomegaly OMIM:619183
X-Linked Lymphoproliferative Disease
Elevated hepatic transaminase, Decreased liver function, Fulminant hepatitis, Hepatic failure, Sp... ORPHA:2442
Beta-Thalassemia Intermedia
Cirrhosis, Hepatocellular carcinoma, Cholelithiasis, Hepatomegaly, Jaundice, Decreased liver func... ORPHA:231222
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Splenomegaly ORPHA:33577
Peroxisome Biogenesis Disorder 3B
Hepatomegaly OMIM:266510
Caroli Syndrome
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Chola... ORPHA:480520
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Hepatomegaly, Abnormal liver parenchy... ORPHA:456312
Pseudo-Torch Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Decreased liver function, Splenomegaly OMIM:251290
Congenital Disorder Of Glycosylation, Type Ie
Hepatomegaly, Patent ductus arteriosus, Elevated hepatic transaminase, Splenomegaly OMIM:608799
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatomegaly, Hepatic steatosis, Elevated hepatic transaminase, Hepatic failure ORPHA:228305
Peroxisome Biogenesis Disorder 4A (Zellweger)
Hepatomegaly OMIM:614862
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Splenomegaly ORPHA:2785
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Pancreatitis ORPHA:27
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatomegaly, Decreased liver function, Acute hepatitis OMIM:238970
Combined Oxidative Phosphorylation Deficiency 4
Hepatomegaly OMIM:610678
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Jaundice, Cholangitis OMIM:607626
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Cirrhosis, Elevated hepatic transaminase, Hepatocellular adenoma, Hepatocellular carcinoma, Hepat... ORPHA:370
Leishmaniasis
Hepatomegaly, Elevated hepatic transaminase, Splenomegaly ORPHA:507
Aa Amyloidosis
Hepatomegaly, Cholestasis, Enlarged kidney ORPHA:85445
Fetal Gaucher Disease
Hepatomegaly, Abnormality of the spleen, Splenomegaly ORPHA:85212
Peroxisome Biogenesis Disorder 1B
Hepatic fibrosis, Cirrhosis, Hepatomegaly OMIM:601539
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hepatomegaly OMIM:619053
Sickle Cell Anemia
Cholelithiasis, Hepatomegaly, Jaundice, Cardiomegaly, Splenomegaly OMIM:603903
Griscelli Syndrome
Hepatomegaly, Jaundice, Hepatitis, Ascites, Splenomegaly ORPHA:381
Reynolds Syndrome
Hepatomegaly, Jaundice, Cirrhosis, Ascites ORPHA:779
Cryoglobulinemic Vasculitis
Viral hepatitis, Splenomegaly, Abnormality of the liver, Hepatomegaly ORPHA:91138
Coach Syndrome 1
Cirrhosis, Elevated hepatic transaminase, Abnormal abdomen morphology, Hepatic fibrosis, Hepatome... OMIM:216360
Cystic Echinococcosis
Peritoneal abscess, Elevated hepatic transaminase, Hepatic cysts, Abnormality of the peritoneum, ... ORPHA:400
Fanconi-Bickel Syndrome
Hepatocellular carcinoma, Elevated circulating alanine aminotransferase concentration, Hepatomega... ORPHA:2088
Peroxisomal Acyl-Coa Oxidase Deficiency
Hepatomegaly ORPHA:2971
Free Sialic Acid Storage Disease
Hepatomegaly, Ascites, Splenomegaly ORPHA:834
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly ORPHA:324575
Joubert Syndrome 8
Hepatomegaly, Prolonged neonatal jaundice OMIM:612291
Mulibrey Nanism
Hepatomegaly, Ascites, Cardiomegaly OMIM:253250
Typhoid
Hepatomegaly, Splenomegaly ORPHA:99745
Alpha-Mannosidosis
Hepatomegaly, Splenomegaly ORPHA:61
Spondyloepimetaphyseal Dysplasia, Shohat Type
Hepatomegaly, Splenomegaly OMIM:602557
Cardiomyopathy, Familial Hypertrophic, 4
Hepatomegaly, Ascites, Cardiomegaly OMIM:115197
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cholestatic liver disease ORPHA:5
Hurler-Scheie Syndrome
Hepatomegaly, Splenomegaly OMIM:607015
Immunodeficiency With Hyper-Igm, Type 1
Cirrhosis, Sclerosing cholangitis, Hepatomegaly, Chronic hepatitis, Hepatitis, Splenomegaly OMIM:308230
Niemann-Pick Disease, Type A
Elevated circulating alanine aminotransferase concentration, Hepatomegaly, Prolonged neonatal jau... OMIM:257200
Scheie Syndrome
Hepatomegaly, Splenomegaly ORPHA:93474
Roifman Syndrome
Hepatomegaly, Splenomegaly OMIM:616651
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hepatomegaly OMIM:616026
Infantile Refsum Disease
Hepatomegaly ORPHA:772
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Hepatic steatosis, Decreased liver function OMIM:614922
Bone Dysplasia, Lethal Holmgren Type
Hepatomegaly, Patent ductus arteriosus ORPHA:1842
Argininemia
Hepatomegaly, Micronodular cirrhosis, Portal fibrosis, Cholestasis OMIM:207800
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Splenomegaly OMIM:601859
Amish Lethal Microcephaly
Hepatomegaly ORPHA:99742
Klippel-Trénaunay Syndrome
Hepatomegaly, Patent ductus arteriosus, Ascites ORPHA:90308
Periodic Fever, Familial, Autosomal Dominant
Hepatomegaly, Hepatic amyloidosis OMIM:142680
Adult-Onset Still Disease
Hepatomegaly, Hepatitis, Elevated hepatic transaminase, Splenomegaly ORPHA:829
Primary Hepatic Neuroendocrine Carcinoma
Elevated hepatic transaminase, Hepatic cysts, Intrahepatic cholestasis with episodic jaundice, Ne... ORPHA:100085
Omenn Syndrome
Hepatomegaly, Splenomegaly OMIM:603554
Galactokinase Deficiency
Hepatomegaly, Hepatosplenomegaly ORPHA:79237
Neonatal Lupus Erythematosus
Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Splenomegaly, Abnormality of the liver ORPHA:398124
Classic Galactosemia
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Ascites, Hepatic failure ORPHA:79239
Sézary Syndrome
Hepatomegaly, Splenomegaly ORPHA:3162
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Pancreatic cysts, Cholestasis, Hepatic fibrosis, Hepatomegaly, Hepatitis, Pancreatic hypoplasia, ... OMIM:610199
Sialuria
Hepatomegaly, Hepatosplenomegaly, Elevated hepatic transaminase, Cholelithiasis ORPHA:3166
Niemann-Pick Disease, Type C1
Fatal liver failure in infancy, Fetal ascites, Hepatomegaly, Prolonged neonatal jaundice, Splenom... OMIM:257220
Dengue Fever
Hepatomegaly, Ascites ORPHA:99828
Symptomatic Form Of Hemochromatosis Type 1
Cirrhosis, Hepatocellular carcinoma, Chronic hepatic failure, Hepatomegaly, Cardiomegaly, Cholang... ORPHA:465508
Hardikar Syndrome
Elevated hepatic transaminase, Patent ductus arteriosus, Hepatomegaly, Jaundice, Cholangitis, Spl... OMIM:612726
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Pancreatitis OMIM:251000
Aredyld Syndrome
Hepatomegaly, Splenomegaly ORPHA:1133
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Hepatic steatosis, Pancreatitis, Splenomegaly ORPHA:2348
Cronkhite-Canada Syndrome
Hepatomegaly, Splenomegaly ORPHA:2930
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Cirrhosis, Elevated hepatic transaminase, Hepatocellular adenoma, Hepatic steatosis, Cholestasis,... ORPHA:264580
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Splenomegaly ORPHA:3226
Congenital Disorder Of Glycosylation, Type Iil
Cirrhosis, Elevated hepatic transaminase, Patent ductus arteriosus, Cholestasis, Hepatomegaly, Sp... OMIM:614576
Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Increased hepatic glycogen content, Elevated hepatic transaminase, Pancreatic islet... ORPHA:263455
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Hepatic steatosis, Hepatomegaly, Pancreatitis, Splenomegaly ORPHA:79083
Prolidase Deficiency
Hepatomegaly, Splenomegaly, Prolonged neonatal jaundice, Elevated circulating aspartate aminotran... OMIM:170100
Primary Myelofibrosis
Hepatomegaly, Portal hypertension, Hepatosplenomegaly, Splenomegaly ORPHA:824
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Hepatic steatosis ORPHA:435660
Primary Sclerosing Cholangitis
Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Acute hepatic failure, Chroni... ORPHA:171
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly OMIM:229700
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Splenomegaly OMIM:612387
American Trypanosomiasis
Hepatomegaly, Splenomegaly ORPHA:3386
Acquired Idiopathic Sideroblastic Anemia
Hepatomegaly, Splenomegaly ORPHA:75564
Aicardi-Goutieres Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly, Hepatospl... OMIM:225750
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Splenomegaly OMIM:252930
Congenital Generalized Lipodystrophy
Hepatomegaly, Hepatic steatosis, Cirrhosis ORPHA:528
Tyrosinemia, Type I
Cirrhosis, Elevated hepatic transaminase, Enlarged kidney, Hepatocellular carcinoma, Acute hepati... OMIM:276700
Juvenile Sialidosis Type 2
Hepatomegaly, Hepatosplenomegaly, Visceromegaly ORPHA:93399
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Hepatomegaly OMIM:560000
Congenital Disorder Of Glycosylation, Type Iib
Hepatomegaly OMIM:606056
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Polysplenia, Pancreatic fibrosis, Hepatic fibrosis, Hepatomegaly, Ascites OMIM:200995
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Hepatomegaly ORPHA:1194
Wilson Disease
Cirrhosis, Hepatocellular carcinoma, Hepatomegaly, Atypical or prolonged hepatitis, Hepatic failure OMIM:277900
Autoimmune Lymphoproliferative Syndrome, Type V
Hepatomegaly, Splenomegaly OMIM:616100
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Micronodular cirrhosis, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatome... OMIM:203700
Chronic Granulomatous Disease
Hepatomegaly, Liver abscess, Splenomegaly ORPHA:379
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Hepatomegaly ORPHA:927
Sialuria
Hepatomegaly, Splenomegaly OMIM:269921
Fucosidosis
Hepatomegaly, Cardiomegaly, Abnormality of the gallbladder ORPHA:349
Peroxisome Biogenesis Disorder 5A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Jaundice, Splenomegaly, Hepatosplenomegaly OMIM:614866
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Splenomegaly OMIM:617388
Reynolds Syndrome
Elevated hepatic transaminase, Biliary cirrhosis, Hepatomegaly, Jaundice, Splenomegaly OMIM:613471
Wolcott-Rallison Syndrome
Elevated hepatic transaminase, Exocrine pancreatic insufficiency, Acute hepatic failure, Hepatome... ORPHA:1667
Gaucher Disease, Type Iiic
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:231005
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Hepatic steatosis, Elevated hepatic transaminase OMIM:212138
Diaphanospondylodysostosis
Abnormal liver lobulation, Enlarged kidney OMIM:608022
Juvenile Idiopathic Arthritis
Hepatomegaly, Splenomegaly ORPHA:92
Gaucher Disease, Type I
Hepatomegaly, Hypersplenism, Splenomegaly OMIM:230800
Muckle-Wells Syndrome
Hepatomegaly, Splenomegaly ORPHA:575
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Ascites, Hepatic failure, Splenomegaly OMIM:259720
Gaucher Disease Type 1
Cirrhosis, Biliary tract obstruction, Hepatomegaly, Ascites, Hypersplenism, Splenomegaly ORPHA:77259
Citrullinemia Type Ii
Elevated hepatic transaminase, Hepatic steatosis, Hepatocellular carcinoma, Hepatic fibrosis, Hep... ORPHA:247585
Mucopolysaccharidosis, Type Iiid
Hepatomegaly, Splenomegaly OMIM:252940
Niemann-Pick Disease, Type C2
Hepatomegaly, Prolonged neonatal jaundice, Fetal ascites, Splenomegaly OMIM:607625
Hyperimmunoglobulinemia D With Periodic Fever
Peritonitis, Hepatomegaly ORPHA:343
Opsismodysplasia
Hepatomegaly, Splenomegaly ORPHA:2746
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly OMIM:246450
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Splenomegaly ORPHA:169090
Triploidy
Hepatomegaly, Abnormality of the pancreas, Abnormality of the gallbladder ORPHA:3376
Campomelia, Cumming Type
Hepatomegaly, Pancreatic cysts, Abnormality of the pancreas ORPHA:1318
Familial Tumoral Calcinosis
Hepatomegaly, Splenomegaly ORPHA:53715
Lymphoproliferative Syndrome 1
Hepatomegaly, Splenomegaly OMIM:613011
Citrullinemia, Classic
Hepatomegaly, Cirrhosis OMIM:215700
Hereditary Spherocytosis
Hepatomegaly, Jaundice, Cholelithiasis, Splenomegaly ORPHA:822
Glutaric Acidemia I
Hepatomegaly OMIM:231670
Familial Hemophagocytic Lymphohistiocytosis
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Decreased liver function, Cholestatic live... ORPHA:540
Glycogen Storage Disease Ii
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:232300
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated hepatic transaminase, Enlarged kidney, Macrovesicular hepatic steatosis, Hepatomegaly, H... OMIM:608836
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Increased hepatocellular lipid droplets, Decreased liver function OMIM:220110
Gamma-Heavy Chain Disease
Hepatomegaly, Splenomegaly ORPHA:100026
Cimdag Syndrome
Hepatomegaly, Microvesicular hepatic steatosis, Cholelithiasis OMIM:619273
Neutral Lipid Storage Disease With Ichthyosis
Hepatomegaly, Micronodular cirrhosis, Elevated hepatic transaminase, Hepatic steatosis ORPHA:98907
Omenn Syndrome
Hepatomegaly, Splenomegaly ORPHA:39041
Acquired Generalized Lipodystrophy
Hepatomegaly, Hepatic steatosis, Cirrhosis, Acute pancreatitis ORPHA:79086
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Hepatomegaly, Elevated hepatic transaminase ORPHA:329178
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Elevated hepatic transaminase, Chronic hepatic failure, Hepatomegaly, Jaundice, Ascites, Portal h... ORPHA:79124
Craniofaciofrontodigital Syndrome
Hepatomegaly ORPHA:363705
Wild Type Attr Amyloidosis
Hepatomegaly ORPHA:330001
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Decreased liver function, Diffuse hepatic steatosis ORPHA:436271
Pycnodysostosis
Hepatomegaly, Splenomegaly ORPHA:763
Cinca Syndrome
Hepatomegaly, Splenomegaly ORPHA:1451
Hermansky-Pudlak Syndrome 10
Hepatomegaly, Splenomegaly OMIM:617050
Neuroendocrine Tumor Of The Colon
Hepatomegaly, Elevated hepatic transaminase ORPHA:100080
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Ascites OMIM:226300
Multiple Sulfatase Deficiency
Hepatomegaly, Splenomegaly ORPHA:585
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Ascites, Splenomegaly ORPHA:36412
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Left ventricular hypertrophy OMIM:619167
Propionic Acidemia
Hepatomegaly, Pancreatitis OMIM:606054
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hepatomegaly OMIM:618810
Kagami-Ogata Syndrome
Hepatomegaly, Patent ductus arteriosus, Splenomegaly OMIM:608149
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Splenomegaly OMIM:259700
Polycythemia Vera
Hepatomegaly, Portal hypertension, Splenomegaly ORPHA:729
Pediatric-Onset Graves Disease
Hepatomegaly, Jaundice, Elevated hepatic transaminase, Splenomegaly ORPHA:525731
Ppoma
Extrahepatic cholestasis, Abnormal abdomen morphology, Intrahepatic cholestasis, Cholelithiasis, ... ORPHA:97278
Peroxisome Biogenesis Disorder 2A (Zellweger)
Hepatomegaly, Jaundice, Intrahepatic biliary dysgenesis OMIM:214110
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Micronodular cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Jaundice, Splenomegaly, Port... ORPHA:309854
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Pancreatic lymphangiectasis, Hepatomegaly, Ascites, Hepatic failure, Splenomegaly OMIM:235255
Transketolase Deficiency
Hepatomegaly, Patent ductus arteriosus ORPHA:488618
Congenital Sialidosis Type 2
Hepatomegaly, Hepatosplenomegaly, Ascites ORPHA:93400
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Hepatomegaly, Splenomegaly OMIM:612852
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Elevated hepatic transaminase, Hepatic failure ORPHA:159
Beta-Thalassemia Major
Cirrhosis, Hepatocellular carcinoma, Hepatic fibrosis, Jaundice, Hepatomegaly, Hypersplenism, Spl... ORPHA:231214
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Hepatic steatosis, Elevated hepatic transaminase ORPHA:348
Zimmermann-Laband Syndrome
Hepatomegaly, Splenomegaly ORPHA:3473
Dysbetalipoproteinemia
Hepatomegaly, Hepatic steatosis, Acute pancreatitis ORPHA:412
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Hepatitis, Hypersplenism, Splenomegaly, Portal hypertension OMIM:613385
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Elevated hepatic transaminase, Splenomegaly OMIM:617591
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Hepatic steatosis, Elevated hepatic transaminase, Splenomegaly OMIM:613327
Multiple Sulfatase Deficiency
Hepatomegaly, Splenomegaly OMIM:272200
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatomegaly, Hepatosplenomegaly, Elevated hepatic transaminase ORPHA:331206
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Enlarged kidney, Hepatocellular carcinoma, Hepatomegaly, Pancreatitis OMIM:232200
Joubert Syndrome With Hepatic Defect
Cirrhosis, Elevated hepatic transaminase, Chronic hepatic failure, Neoplasm of the liver, Hepatom... ORPHA:1454
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Splenomegaly, Ascites, Cardiomegaly, Hepatic failure, Hepatosplenomegaly OMIM:608013
Felty Syndrome
Hepatomegaly, Splenomegaly ORPHA:47612
Sandhoff Disease
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly OMIM:268800
Lig4 Syndrome
Hepatomegaly ORPHA:99812
Methylmalonic Aciduria, Cblb Type
Hepatomegaly OMIM:251110
Gm1-Gangliosidosis, Type I
Hepatomegaly, Splenomegaly OMIM:230500
Cockayne Syndrome Type 2
Hepatomegaly ORPHA:90322
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Splenomegaly OMIM:603909
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Enlarged kidney, Hepatocellular carcinoma, Hepatomegaly, Pancreatitis OMIM:232220
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Macrovesicular hepatic steatosis, Patent ductus arteriosus, Hepatomegaly, Spleno... OMIM:617303
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic fibrosis, Hepatic steatosis, Pancreatic fibrosis, Hepatomegaly OMIM:616263
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Renal tubular epithelial necrosis, Hepatic calcification, Hepatic failure ORPHA:157
Majeed Syndrome
Hepatomegaly, Splenomegaly ORPHA:77297
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Hepatomegaly, Hepatic hemangioma, Elevated hepatic transaminase ORPHA:73230
Oculoskeletodental Syndrome
Hepatomegaly, Splenomegaly OMIM:618440
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatic steatosis, Renal tubular epithelial necrosis, Hepatomegaly, Hepatic calcification, Cardio... ORPHA:228308
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Pancreatic lymphangiectasis, Hepatomegaly, Ascites, Hepatic failure, Splenomegaly, Hepatosplenome... ORPHA:1655
Argininosuccinic Aciduria
Hepatic fibrosis, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration OMIM:207900
Xylt1-Cdg
Hepatomegaly ORPHA:370930
Congenital Disorder Of Glycosylation, Type Iie
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Decreased liver function, Splenomegaly OMIM:608779
Alstrom Syndrome
Hepatomegaly, Hepatic steatosis, Elevated hepatic transaminase, Chronic active hepatitis OMIM:203800
Shwachman-Diamond Syndrome 1
Hepatomegaly, Exocrine pancreatic insufficiency, Elevated hepatic transaminase, Myocardial necrosis OMIM:260400
Mosaic Trisomy 9
Abnormal liver lobulation, Asplenia, Patent ductus arteriosus ORPHA:99776
Zellweger Syndrome
Hepatomegaly, Jaundice, Hepatic failure ORPHA:912
Shwachman-Diamond Syndrome 2
Hepatomegaly, Hyperechogenic pancreas, Exocrine pancreatic insufficiency OMIM:617941
Cog5-Cdg
Hepatomegaly, Hepatosplenomegaly, Elevated hepatic transaminase ORPHA:263487
Hyperparathyroidism, Neonatal Severe
Hepatomegaly, Splenomegaly OMIM:239200
Fucosidosis
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:230000
Peroxisome Biogenesis Disorder 4B
Hepatomegaly, Decreased liver function OMIM:614863
Methylmalonic Aciduria, Cbla Type
Hepatomegaly OMIM:251100
Neuroendocrine Tumor Of The Rectum
Hepatomegaly, Elevated hepatic transaminase ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hepatomegaly, Elevated hepatic transaminase ORPHA:100082
Somatostatinoma
Extrahepatic cholestasis, Abnormal abdomen morphology, Intrahepatic cholestasis, Gallbladder dysf... ORPHA:97283
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Liver abscess, Splenomegaly OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Liver abscess, Splenomegaly OMIM:233710
Familial Isolated Restrictive Cardiomyopathy
Hepatomegaly ORPHA:75249
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Right ventricular hypertrophy, Cardiomegaly ORPHA:555874
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Hepatomegaly, Jaundice ORPHA:276
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Patent ductus arteriosus, Splenomegaly OMIM:612541
Alagille Syndrome
Hepatomegaly, Reduced number of intrahepatic bile ducts, Cholestasis ORPHA:52
Biotinidase Deficiency
Hepatomegaly, Splenomegaly OMIM:253260
Mastocytosis
Hepatomegaly, Splenomegaly ORPHA:98292
Hereditary Fructose Intolerance
Hepatomegaly, Jaundice, Chronic hepatic failure ORPHA:469
Bronchial Neuroendocrine Tumor
Hepatomegaly, Hepatic failure ORPHA:97287
Congenital Disorder Of Glycosylation, Type Ia
Hepatic fibrosis, Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly OMIM:212065
Prolidase Deficiency
Hepatomegaly, Splenomegaly ORPHA:742
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Liver abscess, Splenomegaly OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Liver abscess, Splenomegaly OMIM:233690
Mucopolysaccharidosis, Type Vii
Hepatomegaly, Splenomegaly OMIM:253220
Vipoma
Extrahepatic cholestasis, Abnormal abdomen morphology, Intrahepatic cholestasis, Neoplasm of the ... ORPHA:97282
Polymyositis
Hepatomegaly ORPHA:732
Hemophagocytic Lymphohistiocytosis, Familial, 2
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Splenomegaly, Hepatosplenomegaly OMIM:603553
Grfoma
Extrahepatic cholestasis, Abnormal abdomen morphology, Intrahepatic cholestasis, Cholelithiasis, ... ORPHA:97261
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Splenomegaly OMIM:309900
Mucopolysaccharidosis, Type Iva
Hepatomegaly OMIM:253000
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Hepatomegaly, Reduced pancreatic beta cells OMIM:226980
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Left ventricular hypertrophy, Elevated circulating alanine aminotransferase concent... ORPHA:308552
Mucopolysaccharidosis, Type Ivb
Hepatomegaly OMIM:253010
Geleophysic Dysplasia 3
Hepatomegaly OMIM:617809
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hepatomegaly, Elevated hepatic transaminase OMIM:301056
Trichohepatoenteric Syndrome 1
Cirrhosis, Cholestasis, Hepatic fibrosis, Jaundice, Hepatomegaly, Abnormality of the pancreas, He... OMIM:222470
Hurler Syndrome
Hepatomegaly, Hepatosplenomegaly, Splenomegaly OMIM:607014
C Syndrome
Hepatomegaly, Patent ductus arteriosus OMIM:211750
Q Fever
Elevated hepatic transaminase, Hepatomegaly, Hepatitis, Splenomegaly, Cholecystitis, Hepatospleno... ORPHA:781
Whipple Disease
Hepatomegaly, Splenomegaly ORPHA:3452
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Jaundice, Splenomegaly OMIM:267700
Mannosidosis, Alpha B, Lysosomal
Hepatomegaly, Splenomegaly OMIM:248500
Mixed Connective Tissue Disease
Hepatomegaly, Splenomegaly ORPHA:809