Gene Summary

Name:
transmembrane p24 trafficking protein 6
Synonyms:
1810018I24Rik,  1810015P03Rik

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
small pancreas Tmed6em1(IMPC)Rbrc HOM Early adult 0.00
abnormal pancreas morphology Tmed6em1(IMPC)Rbrc HOM Early adult 0.00
abnormal liver morphology Tmed6em1(IMPC)Rbrc HOM Late adult 0.00
enlarged liver Tmed6em1(IMPC)Rbrc HOM Late adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Gross Pathology and Tissue Collection

Images

4 Images

Eye Morphology

Images Ophthalmoscopy

2 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Gross Pathology and Tissue Collection

Images

7 Images

Human diseases caused by Tmed6 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 Tmed6 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
Pancreatic Agenesis 2
Pancreatic hypoplasia OMIM:615935
Polycystic Liver Disease 2 With Or Without Kidney Cysts
Hepatomegaly, Hepatic cysts OMIM:617004
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Splenomegaly ORPHA:294
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly ORPHA:79281
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Hepatomegaly OMIM:605911
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatic steatosis, Hepatic fibrosis, Hepatomegaly, Splenomegaly OMIM:614480
Pancreatic Agenesis 1
Pancreatic hypoplasia, Exocrine pancreatic insufficiency OMIM:260370
Congenital Bile Acid Synthesis Defect Type 2
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Chronic hepatic fai... ORPHA:79303
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated hepatic transaminase OMIM:614582
Tyrosinemia Type 1
Hepatomegaly, Hepatocellular carcinoma, Acute hepatic failure, Splenomegaly ORPHA:882
Glycogen Storage Disease Ixb
Hepatomegaly, Increased hepatic glycogen content OMIM:261750
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly OMIM:615158
Congenital Bile Acid Synthesis Defect Type 3
Elevated hepatic transaminase, Neonatal cholestatic liver disease, Biliary tract abnormality, Hep... ORPHA:79302
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Aplasia/Hypoplasia of the pancreas ORPHA:65288
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Splenomegaly ORPHA:46532
Hemoglobin H Disease
Hepatomegaly, Splenomegaly OMIM:613978
Glycogen Storage Disease Ixa1
Hepatomegaly, Elevated hepatic transaminase OMIM:306000
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Splenomegaly OMIM:606445
Annular Pancreas
Annular pancreas ORPHA:675
Pancreas, Annular
Annular pancreas OMIM:167750
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly OMIM:615947
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatitis, Hepatic failure ORPHA:60
Immunodeficiency 48
Hepatomegaly, Splenomegaly OMIM:269840
Sclerosing Cholangitis, Neonatal
Cirrhosis, Elevated hepatic transaminase, Sclerosing cholangitis, Biliary cirrhosis, Cholestasis,... OMIM:617394
Martinez-Frias Syndrome
Hypoplasia of the gallbladder, Pancreatic hypoplasia, Annular pancreas, Extrahepatic biliary duct... OMIM:601346
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Increased hepatic glycogen content, Hepatomegaly OMIM:232700
Nephronophthisis 19
Cholestasis, Hepatic fibrosis, Hepatomegaly, Splenomegaly, Bile duct proliferation OMIM:616217
Bile Acid Conjugation Defect 1
Elevated circulating alanine aminotransferase concentration, Hepatomegaly, Jaundice, Hepatic fail... OMIM:619232
Duodenal Atresia
Abnormality of the pancreas, Annular pancreas ORPHA:1203
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly OMIM:609016
Immunodeficiency 47
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Prolonged neonatal jau... OMIM:300972
Systemic Primary Carnitine Deficiency
Hepatomegaly, Elevated hepatic transaminase ORPHA:158
Heme Oxygenase 1 Deficiency
Hepatomegaly OMIM:614034
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Abnormality of the liver ORPHA:1980
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Cholestasis, Pancreatic hypoplasia, Absent gallbladder, Acholi... OMIM:615710
Congenital Disorder Of Glycosylation, Type Ii
Hepatomegaly OMIM:607906
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Biliary tract abnor... ORPHA:79301
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Splen... OMIM:602347
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hepatic steatosis OMIM:615238
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Biliary Atresia, Extrahepatic
Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Extrahepatic biliary duct atresia,... OMIM:210500
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Jaundice, Splenomegaly OMIM:237800
Peroxisome Biogenesis Disorder 10A (Zellweger)
Hepatomegaly OMIM:614882
Multiple Symmetric Lipomatosis
Hepatomegaly ORPHA:2398
Mulibrey Nanism
Hepatomegaly ORPHA:2576
Cholestasis-Lymphedema Syndrome
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Hepatomegaly, Jaund... OMIM:214900
Congenital Disorder Of Glycosylation, Type Iir
Micronodular cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Jaundice,... OMIM:301045
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Portal hypertension, Hepatic fibrosis, Jaundice, Hepatomegaly, Hep... OMIM:616278
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Jaundice, Elevated circulating aspartate aminotransferase concentration OMIM:614876
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Cyanosis, Transient Neonatal
Hepatomegaly, Jaundice OMIM:613977
Retinitis Pigmentosa 59
Hepatomegaly, Elevated hepatic transaminase OMIM:613861
Rft1-Cdg
Hepatomegaly ORPHA:244310
Galactose Mutarotase Deficiency
Hepatomegaly, Decreased liver function, Cholestasis ORPHA:570422
Congenital Bile Acid Synthesis Defect Type 4
Hepatomegaly, Cirrhosis, Biliary tract abnormality, Cholestasis ORPHA:79095
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Hepatomegaly, Hepatic failure, Splenomegaly OMIM:616719
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Splenomegaly OMIM:618541
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly ORPHA:2432
Hemochromatosis, Type 2B
Hepatomegaly, Cirrhosis, Elevated hepatic transaminase, Splenomegaly OMIM:613313
Congenital Respiratory-Biliary Fistula
Abnormality of the liver ORPHA:2040
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Hepatomegaly, Splenomegaly OMIM:608971
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Hepat... OMIM:613812
Galactosemia Iii
Hepatomegaly, Jaundice, Splenomegaly OMIM:230350
Cholestasis, Benign Recurrent Intrahepatic, 2
Hepatomegaly, Jaundice, Intrahepatic cholestasis, Cholelithiasis OMIM:605479
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Elevated hepatic transaminase, Cholestasis, Hepatomegaly, Jaundice, Hepatic failure OMIM:618528
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Hepatomegaly, Prol... OMIM:214950
Liver Failure, Infantile, Transient
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Macrovesicular hepatic steatosis... OMIM:613070
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly ORPHA:417
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Hepatic failure OMIM:618549
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Intermittent jaundice, Intrahepatic cholestasis with episodic jaundice, Pancreatitis OMIM:243300
Hepatic Veno-Occlusive Disease
Hepatomegaly, Jaundice, Ascites, Elevated hepatic transaminase ORPHA:890
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Splenomegaly OMIM:618495
Campomelia, Cumming Type
Pancreatic cysts, Polysplenia, Polycystic liver disease OMIM:211890
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatomegaly, Jaundice, Splenomegaly OMIM:211600
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hepatic steatosis, Hepatic failure OMIM:617872
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Jaundice, Splenomegaly, Cholestasis ORPHA:172
Pancreatitis, Hereditary
Pancreatic pseudocyst, Pancreatic calcification, Exocrine pancreatic insufficiency, Pancreatitis OMIM:167800
Congenital Disorder Of Glycosylation, Type Iio
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Prolonged neonatal jaundice, Cholestatic ... OMIM:616828
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Splenomegaly OMIM:607685
Cholesteryl Ester Storage Disease
Cirrhosis, Hepatomegaly, Jaundice, Hepatic failure, Splenomegaly ORPHA:75234
Dubin-Johnson Syndrome
Hepatomegaly, Jaundice, Abnormality of the liver, Biliary tract abnormality ORPHA:234
Matthew-Wood Syndrome
Cryptorchidism, Abnormal spleen morphology, Annular pancreas, Aplasia/Hypoplasia of the pancreas ORPHA:2470
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Pancreatic calcification, Chronic pancreatitis OMIM:608189
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Macrovesicular hepatic steatosis OMIM:618234
Peroxisome Biogenesis Disorder 6A (Zellweger)
Hepatomegaly, Decreased liver function OMIM:614870
Pediatric Hepatocellular Carcinoma
Hepatic fibrosis, Hepatic necrosis, Hepatomegaly ORPHA:33402
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Splenomegaly OMIM:133180
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Pancreatic cysts, Cholestasis, Hepatic fibrosis, Hepatomegaly, Hepatitis, Pancreatic hypoplasia, ... OMIM:610199
Amyloidosis, Familial Visceral
Hepatomegaly, Splenomegaly, Cholestasis OMIM:105200
Developmental And Epileptic Encephalopathy 36
Hepatomegaly OMIM:300884
African Iron Overload
Peritonitis, Micronodular cirrhosis, Viral hepatitis, Hepatic steatosis, Hepatocellular carcinoma... ORPHA:139507
Mitochondrial Complex I Deficiency, Nuclear Type 3
Hepatomegaly OMIM:618224
Glycogen Storage Disease Ixc
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation OMIM:613027
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Hepatomegaly, Hepatic fibrosi... ORPHA:369
3-Methylglutaconic Aciduria Type 1
Hepatomegaly ORPHA:67046
Nephronophthisis 13
Hepatic cysts, Pancreatic cysts OMIM:614377
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly OMIM:611721
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Elevated hepatic transaminase OMIM:615895
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Hepatic steatosis, Pancreatitis ORPHA:79084
Senior-Loken Syndrome 8
Hepatic cysts, Pancreatic cysts OMIM:616307
Sandhoff Disease
Hepatomegaly, Splenomegaly ORPHA:796
Perlman Syndrome
Hepatomegaly, Cryptorchidism, Abnormal pancreas morphology ORPHA:2849
Cholestasis-Lymphedema Syndrome
Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice,... ORPHA:1414
Cystic Fibrosis
Hepatomegaly, Biliary cirrhosis, Exocrine pancreatic insufficiency ORPHA:586
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
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly OMIM:615285
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Hepatic steatosis, Elevated hepatic transaminase OMIM:610717
Klatskin Tumor
Hepatomegaly, Jaundice, Cholangiocarcinoma, Extrahepatic cholestasis ORPHA:99978
Peroxisome Biogenesis Disorder 13A (Zellweger)
Hepatomegaly, Jaundice, Cholestasis OMIM:614887
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Hepatom... OMIM:607765
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Hepatic failure,... OMIM:235555
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Splenomegaly ORPHA:86893
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Splenomegaly OMIM:618852
Isolated Polycystic Liver Disease
Hepatomegaly, Abnormality of the pancreas, Polycystic liver disease ORPHA:2924
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
Coproporphyria, Hereditary
Hepatomegaly, Jaundice, Splenomegaly OMIM:121300
Peroxisomal Acyl-Coa Oxidase Deficiency
Hepatomegaly, Elevated hepatic transaminase, Diffuse hepatic steatosis OMIM:264470
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Hepatic steatosis, Hepatosplenomegaly, Splenomegaly OMIM:612526
Budd-Chiari Syndrome
Peritonitis, Cirrhosis, Elevated hepatic transaminase, Cholecystitis, Acute hepatic failure, Hepa... ORPHA:131
Dextrocardia
Abnormality of the spleen, Pancreatic hypoplasia, Abnormality of abdominal situs ORPHA:1666
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Cholestasis, Hepatomegaly, Jaundice, Splenomegaly, Portal hypertension ORPHA:59303
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Hepatomegaly, Lef... OMIM:619048
Dihydrolipoamide Dehydrogenase Deficiency
Hepatomegaly, Decreased liver function, Elevated hepatic transaminase OMIM:246900
Dysplastic Cortical Hyperostosis
Hepatomegaly, Splenomegaly ORPHA:2204
Infantile Liver Failure Syndrome 3
Elevated hepatic transaminase, Hepatic steatosis, Hepatic bridging fibrosis, Acute hepatic failur... OMIM:618641
Propionic Acidemia
Hepatomegaly ORPHA:35
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly OMIM:615234
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly OMIM:615924
Meckel Syndrome, Type 3
Hepatic fibrosis, Bile duct proliferation, Malformation of the hepatic ductal plate, Hepatomegaly OMIM:607361
Gaucher Disease Type 2
Hepatomegaly, Splenomegaly ORPHA:77260
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia OMIM:609069
Farber Lipogranulomatosis
Hepatomegaly, Splenomegaly OMIM:228000
Caroli Disease, Isolated
Hepatomegaly, Cholangitis, Liver abscess, Portal hypertension OMIM:600643
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Jaundice, Splenomegaly OMIM:185000
Combined Oxidative Phosphorylation Deficiency 1
Hepatomegaly, Fulminant hepatic failure, Cholestasis OMIM:609060
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Hepatomegaly, Ascites ORPHA:2198
Alpha-Heavy Chain Disease
Hepatomegaly, Ascites, Splenomegaly ORPHA:100025
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Splenomegaly OMIM:608540
Hemochromatosis, Type 2A
Hepatomegaly, Cirrhosis, Splenomegaly OMIM:602390
Congenital Disorder Of Glycosylation, Type In
Hepatomegaly OMIM:612015
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Hepatomegaly, Abnormal liver parenchy... ORPHA:456312
Mu-Heavy Chain Disease
Hepatomegaly, Splenomegaly ORPHA:100024
Mody
Hepatocellular adenoma, Pancreatic hypoplasia, Exocrine pancreatic insufficiency ORPHA:552
Peroxisome Biogenesis Disorder 3A (Zellweger)
Hepatomegaly OMIM:614859
Hodgkin Lymphoma
Hepatomegaly, Splenomegaly ORPHA:98293
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Elevate... OMIM:251880
Glycogen Storage Disease Iii
Hepatic fibrosis, Elevated hepatic transaminase, Hepatomegaly OMIM:232400
Peroxisome Biogenesis Disorder 7A (Zellweger)
Hepatomegaly, Jaundice OMIM:614872
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Jaundice, Splenomegaly OMIM:603552
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Splenomegaly OMIM:615085
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Pan... OMIM:618805
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Cirrhosis, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Macrovesicular hepati... OMIM:256810
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Cardiomegaly, Macrovesicular hepatic steatosis, Elevated hepatic transaminase OMIM:600649
Congenital Disorder Of Glycosylation, Type Ib
Hepatic fibrosis, Cirrhosis, Hepatic failure, Hepatomegaly OMIM:602579
Infantile Liver Failure Syndrome 1
Hepatomegaly, Hepatic steatosis, Acute hepatic failure, Elevated hepatic transaminase OMIM:615438
Lysosomal Acid Lipase Deficiency
Elevated circulating aspartate aminotransferase concentration, Cirrhosis, Increased hepatic echog... OMIM:278000
Fish-Eye Disease
Hepatomegaly, Splenomegaly ORPHA:79292
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Hepatosplenomegaly, Elevated hepatic transaminase, Splenomegaly OMIM:610333
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatomegaly, Hepatic steatosis, Elevated hepatic transaminase ORPHA:369840
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Hepatic cysts, Pancreatic cysts, Polysplenia, Biliary cirrhosis, Pancreatic fibrosis, ... OMIM:208540
Caroli Disease
Cirrhosis, Intrahepatic cholestasis, Elevated circulating alanine aminotransferase concentration,... ORPHA:53035
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Hepatomegaly, Abnormality of the liver ORPHA:254864
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Cholelithiasis, Biliary hyperplasia,... ORPHA:567983
Congenital Disorder Of Glycosylation, Type Iij
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Splenomegaly OMIM:613489
Congenital Toxoplasmosis
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Ascites, Cardiomegaly ORPHA:858
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Macrovesicular hepatic steatosis, Cholestasis OMIM:614924
Hyperzincemia With Functional Zinc Depletion
Hepatomegaly OMIM:601979
Leber Congenital Amaurosis 1
Hepatomegaly OMIM:204000
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Jaundice, Splenomegaly OMIM:615631
Microcephaly, Amish Type
Hepatomegaly OMIM:607196
Combined Oxidative Phosphorylation Deficiency 33
Elevated hepatic transaminase, Left ventricular hypertrophy, Cardiomegaly, Hepatomegaly OMIM:617713
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly OMIM:613730
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly ORPHA:28
Lcat Deficiency
Hepatomegaly, Splenomegaly ORPHA:650
Mitochondrial Pyruvate Carrier Deficiency
Hepatomegaly OMIM:614741
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Cholestasis, Hepatic fibrosis, Hepatomegaly, Asplenia OMIM:615415
Congenital Disorder Of Glycosylation, Type Iik
Hepatomegaly, Elevated hepatic transaminase OMIM:614727
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Pancreatic hypoplasia, Splenomegaly, Retroperitoneal fibrosis, Hepatosplenomegaly, ... OMIM:602782
Pfapa Syndrome
Hepatomegaly, Splenomegaly ORPHA:42642
Harderoporphyria
Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly OMIM:618892
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Splenomegaly OMIM:618107
Wilson Disease
Acute hepatitis, Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic failu... ORPHA:905
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Hepatitis, Splenomegaly OMIM:300635
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic cysts, Periportal fibrosis, Pancreatic cysts, Hepatomegaly, Splenomegaly, Portal hyperten... OMIM:263200
Carnitine Deficiency, Systemic Primary
Elevated hepatic transaminase, Hepatic steatosis, Decreased carnitine level in liver, Hepatomegal... OMIM:212140
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Hepatic steatosis, Jaundice, Abnormality of exocrine pancreas physiology, Aplasia/Hypoplasia of t... ORPHA:93111
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Hepatomegaly OMIM:615704
Hereditary Chronic Pancreatitis
Jaundice, Pancreatic calcification, Recurrent pancreatitis ORPHA:676
Hemochromatosis, Type 1
Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Hepatomegaly, Ascites, Cardio... OMIM:235200
Pancreatitis, Sclerosing Cholangitis, And Sicca Complex
Hepatomegaly, Jaundice, Sclerosing cholangitis, Pancreatitis OMIM:260480
Macrocephaly/Autism Syndrome
Hepatomegaly, Splenomegaly OMIM:605309
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Cardiomegaly, Hepatomegaly OMIM:619064
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Hepatosplenomegaly, Splenomegaly OMIM:611490
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Ascites ORPHA:2123
Babesiosis
Hepatomegaly, Jaundice, Hepatic failure, Splenomegaly ORPHA:108
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatomegaly, Jaundice, Hepatitis, Splenomegaly OMIM:194380
Isolated Permanent Neonatal Diabetes Mellitus
Pancreatic hypoplasia, Reduced pancreatic beta cells ORPHA:99885
Dk1-Cdg
Hepatomegaly, Congenital hepatic fibrosis, Elevated hepatic transaminase, Splenomegaly ORPHA:91131
Immunodeficiency, Common Variable, 6
Hepatomegaly, Enlarged kidney OMIM:613496
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Acute pancreatitis OMIM:608600
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Jaundice OMIM:613839
Gaucher Disease, Type Iii
Hepatomegaly, Splenomegaly OMIM:231000
Isolated Biliary Atresia
Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Periportal fibrosis, Cholestasis, ... ORPHA:30391
Wolman Disease
Hepatomegaly, Ascites, Hepatic failure, Splenomegaly ORPHA:75233
Mitochondrial Myopathy, Infantile, Transient
Hepatomegaly OMIM:500009
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Hepatic steatosis, Cardiomegaly, Elevated hepatic transaminase OMIM:255120
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Hepatomegaly, Elevated hepatic transaminase OMIM:613561
Beta-Thalassemia
Hepatomegaly, Hepatitis, Cholelithiasis, Splenomegaly ORPHA:848
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Splenomegaly OMIM:615846
Shwachman-Diamond Syndrome
Exocrine pancreatic insufficiency, Hypopituitarism, Hepatomegaly, Pancreatic hypoplasia, Decrease... ORPHA:811
Hypermanganesemia With Dystonia 1
Hepatomegaly, Cirrhosis, Decreased liver function, Elevated hepatic transaminase OMIM:613280
Combined Oxidative Phosphorylation Deficiency 47
Hepatomegaly, Elevated hepatic transaminase OMIM:618958
Trichohepatoenteric Syndrome 2
Hepatomegaly, Cirrhosis, Hepatitis OMIM:614602
Interstitial Lung And Liver Disease
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Decreased liver function OMIM:615486
Infantile Sialic Acid Storage Disease
Hepatomegaly, Ascites, Cardiomegaly, Splenomegaly OMIM:269920
Sialidosis Type 2
Hepatomegaly, Ascites, Splenomegaly ORPHA:87876
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Jaundice, Exocrine pancreatic insufficiency, Splenomegaly OMIM:612714
Classic Mycosis Fungoides
Hepatomegaly, Splenomegaly ORPHA:2584
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Splenomegaly OMIM:614470
Pyruvate Carboxylase Deficiency
Hepatomegaly OMIM:266150
Renal Cysts And Diabetes Syndrome
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Biliary tract abnormality OMIM:137920
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Jaundice, Splenomegaly OMIM:616689
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Hepatic steatosis, Elevated hepatic transaminase OMIM:201450
Galactosemia I
Hepatomegaly, Cirrhosis, Decreased liver function OMIM:230400
Meckel Syndrome, Type 7
Pancreatic cysts, Biliary cirrhosis, Cholestasis, Portal hypertension, Bile duct proliferation, H... OMIM:267010
Hurler-Scheie Syndrome
Hepatomegaly, Splenomegaly ORPHA:93476
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Splenomegaly ORPHA:163596
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Hepatomegaly OMIM:614299
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Exocrine pancreatic insufficiency, Aplasia/Hypoplasia of the gallbladder, Biliary atresia, Anteri... ORPHA:2255
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Cholestasis, Hepatic fibrosis, Hepatomegaly, Hepatic failure, Splenomegaly OMIM:615630
Thoraco-Abdominal Enteric Duplication
Hepatomegaly ORPHA:1759
Schnitzler Syndrome
Hepatomegaly, Splenomegaly ORPHA:37748
17Q12 Microdeletion Syndrome
Cryptorchidism, Pancreatic aplasia ORPHA:261265
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis OMIM:275630
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hepatomegaly, Jaundice, Splenomegaly OMIM:608885
Pleural Mesothelioma
Hepatomegaly ORPHA:50251
Transaldolase Deficiency
Micronodular cirrhosis, Cirrhosis, Hepatic fibrosis, Hepatomegaly, Decreased liver function, Sple... OMIM:606003
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly OMIM:207750
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Ascites, Splenomegaly ORPHA:2414
Indolent Systemic Mastocytosis
Hepatomegaly, Splenomegaly ORPHA:98848
Lymphoproliferative Syndrome 2
Hepatomegaly, Hepatosplenomegaly, Ascites, Splenomegaly OMIM:615122
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Hepatosplenomegaly, Splenomegaly OMIM:612840
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly ORPHA:158029
Pearson Marrow-Pancreas Syndrome
Pancreatic fibrosis OMIM:557000
Cold Agglutinin Disease
Hepatomegaly, Splenomegaly ORPHA:56425
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatomegaly, Elevated hepatic transaminase, Hepatic failure ORPHA:156
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Decreased liver function, Ascites, Cholestasis OMIM:608104
Caroli Syndrome
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Chola... ORPHA:480520
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Decreased liver function, Ascites, Hepati... ORPHA:367
Gaucher Disease, Type Ii
Hepatomegaly, Splenomegaly OMIM:230900
Beta-Thalassemia Intermedia
Cirrhosis, Hepatocellular carcinoma, Cholelithiasis, Hepatomegaly, Jaundice, Decreased liver func... ORPHA:231222
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Focal pancreatic islet hyperplasia, Diffuse pancreatic islet hyperplasia ORPHA:276575
Autoimmune Lymphoproliferative Syndrome, Type Iii
Elevated circulating alanine aminotransferase concentration, Hepatomegaly, Splenomegaly, Elevated... OMIM:615559
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Hepatic steatosis, Cirrhosis ORPHA:363400
Immunodeficiency, Common Variable, 1
Hepatomegaly, Splenomegaly OMIM:607594
Nephronophthisis-Like Nephropathy 1
Pancreatic cysts, Chronic pancreatitis OMIM:613159
Immunodeficiency, Common Variable, 2
Hepatomegaly, Splenomegaly OMIM:240500
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cryptorchidism, Biliary hyperplasia, Cholelithiasis, Hepatomegaly, Pancreatic hypoplasia ORPHA:83617
Galactosemia
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Jaundice, Ascites, Hepatic failure ORPHA:352
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Hepatomegaly OMIM:604273
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hepatic steatosis ORPHA:79085
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Cirrhosis, Elevated hepatic transaminase, Hepatocellular adenoma, Hepatocellular carcinoma, Hepat... ORPHA:370
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Hepatic fibrosis, Hepatomegaly, Cholestasis OMIM:266920
Campomelia, Cumming Type
Hepatomegaly, Pancreatic cysts, Abnormality of the pancreas ORPHA:1318
Pseudo-Torch Syndrome 2
Elevated hepatic transaminase, Decreased liver function, Ascites, Hepatomegaly OMIM:617397
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Splenomegaly OMIM:201100
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Diffuse pancreatic islet hyperplasia ORPHA:276556
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Splenomegaly OMIM:619375
Pyruvate Dehydrogenase E3 Deficiency
Hepatomegaly, Elevated hepatic transaminase, Hepatic failure ORPHA:2394
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Pancreatitis, Splenomegaly ORPHA:79312
Cystic Echinococcosis
Peritoneal abscess, Elevated hepatic transaminase, Hepatic cysts, Abnormality of the peritoneum, ... ORPHA:400
Immunodeficiency 54
Hepatomegaly, Splenomegaly OMIM:609981
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Pancreatitis ORPHA:289916
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Hepatic steatosis, Hepatic failure OMIM:261680
Congenital Rubella Syndrome
Hepatomegaly, Jaundice, Splenomegaly ORPHA:290
Griscelli Syndrome Type 2
Hepatomegaly, Jaundice, Splenomegaly ORPHA:79477
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatocellular necrosis, Hepatic steatosis, Periportal fibrosis, Hepatomegaly, Cardiomegaly OMIM:201475
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Decreased liver function, Cardiom... ORPHA:42
Desmoplastic Small Round Cell Tumor
Hepatomegaly, Neoplasm of the pancreas, Abnormality of the peritoneum, Ascites ORPHA:83469
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Hepatic steatosis, Pancreatitis ORPHA:435651
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Fulminant hepatitis, Hepatic failure, Splenomegaly OMIM:308240
Coach Syndrome 1
Cirrhosis, Elevated hepatic transaminase, Abnormal abdomen morphology, Hepatic fibrosis, Hepatome... OMIM:216360
Diffuse Cutaneous Mastocytosis
Hepatomegaly ORPHA:79456
Feingold Syndrome
Abnormality of the spleen, Annular pancreas ORPHA:1305
Neuraminidase Deficiency
Hepatomegaly, Ascites, Cardiomegaly, Splenomegaly OMIM:256550
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Diffuse pancreatic islet hyperplasia ORPHA:276580
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Hepatosplenomegaly, Ascites OMIM:608776
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Splenomegaly ORPHA:85414
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Hepatomegaly ORPHA:50812
Pancreatic Agenesis-Holoprosencephaly Syndrome
Absent gallbladder, Pancreatic aplasia ORPHA:556955
Maternal Uniparental Disomy Of Chromosome 1
Hepatomegaly ORPHA:251009
Fanconi-Bickel Syndrome
Hepatocellular carcinoma, Elevated circulating alanine aminotransferase concentration, Hepatomega... ORPHA:2088
Tangier Disease
Hepatomegaly, Left ventricular hypertrophy, Splenomegaly OMIM:205400
Classic Hodgkin Lymphoma
Hepatomegaly, Splenomegaly ORPHA:391
Pseudo-Torch Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Decreased liver function, Splenomegaly OMIM:251290
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Hepatomegaly OMIM:251900
Cryoglobulinemic Vasculitis
Viral hepatitis, Splenomegaly, Abnormality of the liver, Hepatomegaly ORPHA:91138
Distal Monosomy 17Q
Hepatomegaly ORPHA:1597
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatomegaly, Hepatic steatosis, Elevated hepatic transaminase OMIM:615381
Von Hippel-Lindau Syndrome
Pheochromocytoma, Pancreatic cysts, Neoplasm of the pancreas, Abnormality of the liver OMIM:193300
Griscelli Syndrome
Hepatomegaly, Jaundice, Hepatitis, Ascites, Splenomegaly ORPHA:381
Congenital Disorder Of Glycosylation, Type Ie
Hepatomegaly, Elevated hepatic transaminase, Splenomegaly OMIM:608799
Idiopathic/Heritable Pulmonary Arterial Hypertension
Hepatomegaly ORPHA:422
Aa Amyloidosis
Hepatomegaly, Cholestasis, Enlarged kidney ORPHA:85445
Mulibrey Nanism
Hepatomegaly, Ascites, Cardiomegaly OMIM:253250
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hepatomegaly ORPHA:79279
Primary Sclerosing Cholangitis
Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Acute hepatic failure, Chroni... ORPHA:171
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Splenomegaly OMIM:252900
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Sialadenitis, Abnormal salivary gland morphology, Enlargement of paroti... ORPHA:449432
Alpha-Mannosidosis
Hepatomegaly, Splenomegaly ORPHA:61
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:252920
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatomegaly, Hepatic steatosis, Elevated hepatic transaminase, Hepatic failure ORPHA:228305
Leishmaniasis
Hepatomegaly, Elevated hepatic transaminase, Splenomegaly ORPHA:507
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Pancreatic hypoplasia, Biliary atresia OMIM:600001
Reynolds Syndrome
Hepatomegaly, Jaundice, Cirrhosis, Ascites ORPHA:779
Primary Hepatic Neuroendocrine Carcinoma
Elevated hepatic transaminase, Hepatic cysts, Intrahepatic cholestasis with episodic jaundice, Ne... ORPHA:100085
Severe Combined Immunodeficiency, X-Linked
Hepatomegaly OMIM:300400
Aceruloplasminemia
Elevated hepatic iron concentration, Abnormal pancreas morphology ORPHA:48818
Neonatal Lupus Erythematosus
Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Splenomegaly, Abnormality of the liver ORPHA:398124
Sickle Cell Anemia
Cholelithiasis, Hepatomegaly, Jaundice, Cardiomegaly, Splenomegaly OMIM:603903
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatomegaly, Decreased liver function, Acute hepatitis OMIM:238970
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Pancreatitis ORPHA:27
Niemann-Pick Disease, Type A
Elevated circulating alanine aminotransferase concentration, Hepatomegaly, Prolonged neonatal jau... OMIM:257200
Fetal Gaucher Disease
Hepatomegaly, Abnormality of the spleen, Splenomegaly ORPHA:85212
Classic Galactosemia
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Ascites, Hepatic failure ORPHA:79239
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Cirrhosis, Elevated hepatic transaminase, Hepatocellular adenoma, Hepatic steatosis, Cholestasis,... ORPHA:264580
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Jaundice, Cholangitis OMIM:607626
Immunodeficiency With Hyper-Igm, Type 1
Cirrhosis, Sclerosing cholangitis, Hepatomegaly, Chronic hepatitis, Hepatitis, Splenomegaly OMIM:308230
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly ORPHA:324575
Symptomatic Form Of Hemochromatosis Type 1
Cirrhosis, Hepatocellular carcinoma, Chronic hepatic failure, Hepatomegaly, Cardiomegaly, Cholang... ORPHA:465508
Roifman Syndrome
Hepatomegaly, Splenomegaly OMIM:616651
Spondyloepimetaphyseal Dysplasia, Shohat Type
Hepatomegaly, Splenomegaly OMIM:602557
Free Sialic Acid Storage Disease
Hepatomegaly, Ascites, Splenomegaly ORPHA:834
Shwachman-Diamond Syndrome 2
Hepatomegaly, Hyperechogenic pancreas, Exocrine pancreatic insufficiency OMIM:617941
Typhoid
Hepatomegaly, Splenomegaly ORPHA:99745
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Splenomegaly ORPHA:2785
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Splenomegaly OMIM:619183
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cholestatic liver disease ORPHA:5
Argininemia
Hepatomegaly, Micronodular cirrhosis, Portal fibrosis, Cholestasis OMIM:207800
Peroxisome Biogenesis Disorder 1B
Hepatic fibrosis, Cirrhosis, Hepatomegaly OMIM:601539
Combined D-2- And L-2-Hydroxyglutaric Aciduria
Hepatomegaly OMIM:615182
Cardiomyopathy, Familial Hypertrophic, 4
Hepatomegaly, Ascites, Cardiomegaly OMIM:115197
Alveolar Echinococcosis
Abnormality of mesentery morphology, Hepatic cysts, Pancreatic cysts, Biliary cirrhosis, Abnormal... ORPHA:284
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Hepatic steatosis, Decreased liver function OMIM:614922
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Splenomegaly ORPHA:33577
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Splenomegaly OMIM:601859
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Hepatic steatosis, Hepatomegaly, Pancreatitis, Splenomegaly ORPHA:79083
Adult-Onset Still Disease
Hepatomegaly, Hepatitis, Elevated hepatic transaminase, Splenomegaly ORPHA:829
Peroxisome Biogenesis Disorder 3B
Hepatomegaly OMIM:266510
Combined Oxidative Phosphorylation Deficiency 4
Hepatomegaly OMIM:610678
Peroxisomal Acyl-Coa Oxidase Deficiency
Hepatomegaly ORPHA:2971
Acrocephalopolydactylous Dysplasia
Hepatic fibrosis, Polysplenia, Pancreatic fibrosis, Hepatomegaly OMIM:200995
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Hepatic steatosis, Pancreatitis, Splenomegaly ORPHA:2348
Congenital Disorder Of Glycosylation, Type Iil
Cirrhosis, Elevated hepatic transaminase, Cholestasis, Hepatomegaly, Splenomegaly OMIM:614576
Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Increased hepatic glycogen content, Elevated hepatic transaminase, Pancreatic islet... ORPHA:263455
Sialuria
Hepatomegaly, Hepatosplenomegaly, Elevated hepatic transaminase, Cholelithiasis ORPHA:3166
Hurler-Scheie Syndrome
Hepatomegaly, Splenomegaly OMIM:607015
Joubert Syndrome 8
Hepatomegaly, Prolonged neonatal jaundice OMIM:612291
Wolcott-Rallison Syndrome
Elevated hepatic transaminase, Exocrine pancreatic insufficiency, Acute hepatic failure, Hepatome... ORPHA:1667
Tyrosinemia, Type I
Cirrhosis, Elevated hepatic transaminase, Enlarged kidney, Hepatocellular carcinoma, Acute hepati... OMIM:276700
Cronkhite-Canada Syndrome
Hepatomegaly, Splenomegaly ORPHA:2930
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hepatomegaly OMIM:619053
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pancreatic cysts, Polycystic liver disease, Pancreatic fibrosis, Hepatic fibrosis, Jaundice, Bile... OMIM:208500
Niemann-Pick Disease, Type C1
Fatal liver failure in infancy, Fetal ascites, Hepatomegaly, Prolonged neonatal jaundice, Splenom... OMIM:257220
Prolidase Deficiency
Hepatomegaly, Splenomegaly, Prolonged neonatal jaundice, Elevated circulating aspartate aminotran... OMIM:170100
Infantile Refsum Disease
Hepatomegaly ORPHA:772
Aicardi-Goutieres Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly, Hepatospl... OMIM:225750
Primary Myelofibrosis
Hepatomegaly, Portal hypertension, Hepatosplenomegaly, Splenomegaly ORPHA:824
Omenn Syndrome
Hepatomegaly, Splenomegaly OMIM:603554
Bone Dysplasia, Lethal Holmgren Type
Hepatomegaly ORPHA:1842
Scheie Syndrome
Hepatomegaly, Splenomegaly ORPHA:93474
Amish Lethal Microcephaly
Hepatomegaly ORPHA:99742
Periodic Fever, Familial, Autosomal Dominant
Hepatomegaly, Hepatic amyloidosis OMIM:142680
Aredyld Syndrome
Hepatomegaly, Splenomegaly ORPHA:1133
Galactokinase Deficiency
Hepatomegaly, Hepatosplenomegaly ORPHA:79237
Sézary Syndrome
Hepatomegaly, Splenomegaly ORPHA:3162
Hardikar Syndrome
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Cholangitis, Splenomegaly, Portal hyperten... OMIM:612726
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Splenomegaly ORPHA:3226
Peroxisome Biogenesis Disorder 5A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Jaundice, Splenomegaly, Hepatosplenomegaly OMIM:614866
Congenital Generalized Lipodystrophy
Hepatomegaly, Hepatic steatosis, Cirrhosis ORPHA:528
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Pancreatitis OMIM:251000
Dengue Fever
Hepatomegaly, Ascites ORPHA:99828
Autosomal Dominant Polycystic Kidney Disease
Pituitary growth hormone cell adenoma, Hepatic cysts, Polycystic liver disease, Pancreatic cysts ORPHA:730
Klippel-Trénaunay Syndrome
Hepatomegaly, Ascites ORPHA:90308
Wilson Disease
Cirrhosis, Hepatocellular carcinoma, Hepatomegaly, Atypical or prolonged hepatitis, Hepatic failure OMIM:277900
Peroxisome Biogenesis Disorder 4A (Zellweger)
Hepatomegaly OMIM:614862
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Asplenia, Annular pancreas ORPHA:210122
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Micronodular cirrhosis, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatome... OMIM:203700
Acquired Idiopathic Sideroblastic Anemia
Hepatomegaly, Splenomegaly ORPHA:75564
Citrullinemia Type Ii
Elevated hepatic transaminase, Hepatic steatosis, Hepatocellular carcinoma, Hepatic fibrosis, Hep... ORPHA:247585
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hepatomegaly OMIM:616026
Juvenile Sialidosis Type 2
Hepatomegaly, Hepatosplenomegaly, Visceromegaly ORPHA:93399
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic fibrosis, Hepatic steatosis, Pancreatic fibrosis, Hepatomegaly OMIM:616263
American Trypanosomiasis
Hepatomegaly, Splenomegaly ORPHA:3386
Gaucher Disease Type 1
Cirrhosis, Biliary tract obstruction, Hepatomegaly, Ascites, Hypersplenism, Splenomegaly ORPHA:77259
Fucosidosis
Hepatomegaly, Cardiomegaly, Abnormality of the gallbladder ORPHA:349
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pancreatic fibrosis OMIM:615503
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Hepatic steatosis ORPHA:435660
Bohring-Opitz Syndrome
Hyperechogenic pancreas, Supernumerary nipple OMIM:605039
Triploidy
Hepatomegaly, Abnormality of the pancreas, Abnormality of the gallbladder ORPHA:3376
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Jaundice, Hepatic steatosis, Hepatic periportal necrosis OMIM:231680
Familial Hemophagocytic Lymphohistiocytosis
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Decreased liver function, Cholestatic live... ORPHA:540
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated hepatic transaminase, Enlarged kidney, Macrovesicular hepatic steatosis, Hepatomegaly, H... OMIM:608836
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Splenomegaly OMIM:612387
Spondyloepimetaphyseal Dysplasia, Krakow Type
Annular pancreas OMIM:618162
Atelosteogenesis Type I
Abnormal pancreatic duct morphology ORPHA:1190
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Hepatomegaly ORPHA:927
Reynolds Syndrome
Elevated hepatic transaminase, Biliary cirrhosis, Hepatomegaly, Jaundice, Splenomegaly OMIM:613471
Autosomal Recessive Polycystic Kidney Disease
Pancreatic cysts, Periportal fibrosis, Biliary hyperplasia, Cholestasis, Hepatic fibrosis, Jaundi... ORPHA:731
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Splenomegaly OMIM:252930
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Ascites, Hepatic failure, Splenomegaly OMIM:259720
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Hepatomegaly ORPHA:1194
Kaposiform Lymphangiomatosis
Pancreatic cysts, Hepatosplenomegaly, Abnormal spleen morphology, Splenomegaly ORPHA:464329
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Hepatomegaly OMIM:560000
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Hepatic steatosis, Elevated hepatic transaminase OMIM:212138
Autoimmune Lymphoproliferative Syndrome, Type V
Hepatomegaly, Splenomegaly OMIM:616100
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Elevated hepatic transaminase, Chronic hepatic failure, Hepatomegaly, Jaundice, Ascites, Portal h... ORPHA:79124
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Splenomegaly OMIM:617388
Muckle-Wells Syndrome
Hepatomegaly, Splenomegaly ORPHA:575
Chronic Granulomatous Disease
Hepatomegaly, Liver abscess, Splenomegaly ORPHA:379
Sialuria
Hepatomegaly, Splenomegaly OMIM:269921
Gaucher Disease, Type I
Hepatomegaly, Hypersplenism, Splenomegaly OMIM:230800
Niemann-Pick Disease, Type C2
Hepatomegaly, Prolonged neonatal jaundice, Fetal ascites, Splenomegaly OMIM:607625
Hereditary Spherocytosis
Hepatomegaly, Jaundice, Cholelithiasis, Splenomegaly ORPHA:822
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly OMIM:229700
Juvenile Idiopathic Arthritis
Hepatomegaly, Splenomegaly ORPHA:92
Mucopolysaccharidosis, Type Iiid
Hepatomegaly, Splenomegaly OMIM:252940
Ppoma
Extrahepatic cholestasis, Abnormal abdomen morphology, Intrahepatic cholestasis, Cholelithiasis, ... ORPHA:97278
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Increased hepatocellular lipid droplets, Decreased liver function OMIM:220110
Gaucher Disease, Type Iiic
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:231005
Congenital Disorder Of Glycosylation, Type Iib
Hepatomegaly OMIM:606056
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly OMIM:246450
Neutral Lipid Storage Disease With Ichthyosis
Hepatomegaly, Micronodular cirrhosis, Elevated hepatic transaminase, Hepatic steatosis ORPHA:98907
Hyperimmunoglobulinemia D With Periodic Fever
Peritonitis, Hepatomegaly ORPHA:343
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Micronodular cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Jaundice, Splenomegaly, Port... ORPHA:309854
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Hepatomegaly, Elevated hepatic transaminase ORPHA:329178
Beta-Thalassemia Major
Cirrhosis, Hepatocellular carcinoma, Hepatic fibrosis, Jaundice, Hepatomegaly, Hypersplenism, Spl... ORPHA:231214
Pycnodysostosis
Hepatomegaly, Splenomegaly ORPHA:763
Opsismodysplasia
Hepatomegaly, Splenomegaly ORPHA:2746
Cimdag Syndrome
Hepatomegaly, Microvesicular hepatic steatosis, Cholelithiasis OMIM:619273
Pediatric-Onset Graves Disease
Hepatomegaly, Jaundice, Elevated hepatic transaminase, Splenomegaly ORPHA:525731
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Ascites, Splenomegaly ORPHA:36412
Acquired Generalized Lipodystrophy
Hepatomegaly, Hepatic steatosis, Cirrhosis, Acute pancreatitis ORPHA:79086
Cinca Syndrome
Hepatomegaly, Splenomegaly ORPHA:1451
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Splenomegaly ORPHA:169090
Joubert Syndrome With Hepatic Defect
Cirrhosis, Elevated hepatic transaminase, Chronic hepatic failure, Neoplasm of the liver, Hepatom... ORPHA:1454
Peroxisome Biogenesis Disorder 2A (Zellweger)
Hepatomegaly, Jaundice, Intrahepatic biliary dysgenesis OMIM:214110
Omenn Syndrome
Hepatomegaly, Splenomegaly ORPHA:39041
Propionic Acidemia
Hepatomegaly, Pancreatitis OMIM:606054
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Pancreatic lymphangiectasis, Hepatomegaly, Ascites, Hepatic failure, Splenomegaly OMIM:235255
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Decreased liver function, Diffuse hepatic steatosis ORPHA:436271
Lymphoproliferative Syndrome 1
Hepatomegaly, Splenomegaly OMIM:613011
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Splenomegaly, Ascites, Cardiomegaly, Hepatic failure, Hepatosplenomegaly OMIM:608013
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Acute pancreatitis, Hepatomegaly, Decreased liver function, Hepati... ORPHA:26791
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Hepatitis, Hypersplenism, Splenomegaly, Portal hypertension OMIM:613385
Meckel Syndrome
Cryptorchidism, Accessory spleen, Pancreatic cysts, Pancreatic fibrosis, Cystic liver disease, As... ORPHA:564
Glycogen Storage Disease Ii
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:232300
Congenital Sialidosis Type 2
Hepatomegaly, Hepatosplenomegaly, Ascites ORPHA:93400
Wild Type Attr Amyloidosis
Hepatomegaly ORPHA:330001
Orofaciodigital Syndrome I
Hepatic fibrosis, Hepatic cysts, Pancreatic cysts, Ovarian cyst OMIM:311200
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Hepatic steatosis, Elevated hepatic transaminase, Splenomegaly OMIM:613327
Feingold Syndrome 1
Polysplenia, Asplenia, Accessory spleen, Annular pancreas OMIM:164280
Glutaric Acidemia I
Hepatomegaly OMIM:231670
Zimmermann-Laband Syndrome
Hepatomegaly, Splenomegaly ORPHA:3473
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Splenomegaly OMIM:259700
Gamma-Heavy Chain Disease
Hepatomegaly, Splenomegaly ORPHA:100026
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Enlarged kidney, Hepatocellular carcinoma, Hepatomegaly, Pancreatitis OMIM:232200
Citrullinemia, Classic
Hepatomegaly, Cirrhosis OMIM:215700
Hermansky-Pudlak Syndrome 10
Hepatomegaly, Splenomegaly OMIM:617050
Somatostatinoma
Extrahepatic cholestasis, Abnormal abdomen morphology, Intrahepatic cholestasis, Gallbladder dysf... ORPHA:97283
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Hepatic steatosis, Elevated hepatic transaminase ORPHA:348
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Pancreatic lymphangiectasis, Hepatomegaly, Ascites, Hepatic failure, Splenomegaly, Hepatosplenome... ORPHA:1655
Congenital Disorder Of Glycosylation, Type Iie
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Decreased liver function, Splenomegaly OMIM:608779
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Elevated hepatic transaminase, Hepatic failure ORPHA:159
Zellweger Syndrome
Hepatomegaly, Jaundice, Hepatic failure ORPHA:912
Craniofaciofrontodigital Syndrome
Hepatomegaly ORPHA:363705
Multiple Sulfatase Deficiency
Hepatomegaly, Splenomegaly ORPHA:585
Familial Tumoral Calcinosis
Hepatomegaly, Splenomegaly ORPHA:53715
Alstrom Syndrome
Hepatomegaly, Hepatic steatosis, Elevated hepatic transaminase, Chronic active hepatitis OMIM:203800
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Ascites OMIM:226300
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Left ventricular hypertrophy OMIM:619167
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatomegaly, Hepatosplenomegaly, Elevated hepatic transaminase ORPHA:331206
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Splenomegaly, Macrovesicular hepatic steatosis, Enlarged kidney OMIM:617303
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Enlarged kidney, Hepatocellular carcinoma, Hepatomegaly, Pancreatitis OMIM:232220
Felty Syndrome
Hepatomegaly, Splenomegaly ORPHA:47612
Neuroendocrine Tumor Of The Colon
Hepatomegaly, Elevated hepatic transaminase ORPHA:100080